SPTAN1 spectrin alpha, non-erythrocytic 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPTAN1provided by HGNC
Official Full Name: spectrin alpha, non-erythrocytic 1provided by HGNC
Primary source: HGNC:HGNC:11273
See related: Ensembl:ENSG00000197694 MIM:182810; AllianceGenome:HGNC:11273
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEE5; NEAS; DEVEP; EIEE5; HMN11; SPG91; SPTA2; HMND11
Summary: Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
Expression: Ubiquitous expression in brain (RPKM 87.7), testis (RPKM 42.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 60

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128552587..128633662)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140759427..140840530)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (131314866..131395941)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Title: Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Title: De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
alpha-Fodrin in Cytoskeletal Organization and the Activity of Certain Key Microtubule Kinesins.
Title: α-Fodrin in Cytoskeletal Organization and the Activity of Certain Key Microtubule Kinesins.
Expression and secretion of the proinflammatory cytokine IL8 is increased in colorectal cancer cells following the knockdown of nonerythroid spectrin alphaII.
Title: Expression and secretion of the pro‑inflammatory cytokine IL‑8 is increased in colorectal cancer cells following the knockdown of non‑erythroid spectrin αII.
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.
Title: Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.
alpha-Fodrin is required for the organization of functional microtubules during mitosis.
Title: α-Fodrin is required for the organization of functional microtubules during mitosis.
Patients with nonsense mutations in SPTAN1 were identified, in hereditary motor neuropathy families.
Title: Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
The 150-kDa (calpain-mediated) cleavage product of SPTAN1 was significantly increased in ischemic and nonischemic heart failure.
Title: Defining new mechanistic roles for αII spectrin in cardiac function.
Our results further suggest that SPTAN1 may cause autosomal recessive hereditary spastic paraplegia (HSP), and that it should be included in genetic screening panels for genetically undiagnosed HSP patients.
Title: SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
Compared with the surrounding normal mucosa, SPTAN1 expression was reduced in MLH1-deficient colorectal cancers (CRCs), whereas MLH1-proficient CRCs showed a significant upregulation of SPTAN1. We conclude that SPTAN1 is a candidate molecule explaining the tumor progression and metastasis of MLH1-deficient CRCs.
Title: Downregulation of SPTAN1 is related to MLH1 deficiency and metastasis in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 5 MedGen: C3150731 OMIM: 613477 GeneReviews: Not available	not available
Developmental delay with or without epilepsy MedGen: C5882702 OMIM: 620540 GeneReviews: Not available	not available
Neuronopathy, distal hereditary motor, autosomal dominant 11 MedGen: C5882697 OMIM: 620528 GeneReviews: Not available	not available
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MedGen: C5882701 OMIM: 620538 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of spectrin, alpha, non-erythrocytic 1 (SPTAN1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify spectrin alpha chain (SPTAN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify spectrin alpha chain (SPTAN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify spectrin alpha chain (SPTAN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify spectrin alpha chain (SPTAN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Rev	rev	HIV-1 Rev interacting protein, spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
Vpr	vpr	HIV-1 Vpr upregulates SPTAN1 in HeLa cells within 12 hours of exposure	PubMed
retropepsin	gag-pol	A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-8025 (e-PCR)
- UniSTS:85777

G28277 (e-PCR)
- UniSTS:14395

RH36410 (e-PCR)
- UniSTS:82245

A006J25 (e-PCR)
- UniSTS:60238

RH103052 (e-PCR)
- UniSTS:97386

G17287 (e-PCR)
- UniSTS:32878

D9S1671E (e-PCR)
- UniSTS:147341

RH12836 (e-PCR)
- UniSTS:26298

D9S183E (e-PCR)
- UniSTS:34291

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	TAS Traceable Author Statement more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	HDA more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament capping	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular vesicle	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in specific granule lumen	TAS Traceable Author Statement more info
part_of spectrin	TAS Traceable Author Statement more info	PubMed
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: spectrin alpha chain, non-erythrocytic 1

Names: alpha-II spectrin; alpha-fodrin; epididymis secretory sperm binding protein; fodrin alpha chain; spectrin, non-erythroid alpha chain; spectrin, non-erythroid alpha subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027748.2 RefSeqGene

Range

5002..86077

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130438.3 → NP_001123910.1 spectrin alpha chain, non-erythrocytic 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL356481

Consensus CDS

CCDS48036.1

UniProtKB/TrEMBL

A0A994J4G5

Related

ENSP00000361824.4, ENST00000372739.7

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2332 → 2400

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2407 → 2475

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1663 → 1765

Spectrin; Spectrin repeat
NM_001195532.2 → NP_001182461.1 spectrin alpha chain, non-erythrocytic 1 isoform 3

See identical proteins and their annotated locations for NP_001182461.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AL356481

Consensus CDS

CCDS75914.1

UniProtKB/TrEMBL

A0A384P5S9, A0A994J4G5

Related

ENSP00000350882.6, ENST00000358161.9

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2307 → 2375

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1638 → 1742

Spectrin; Spectrin repeat

pfam08726
Location:2382 → 2450

EFhand_Ca_insen; Ca2+ insensitive EF hand
NM_001363759.2 → NP_001350688.1 spectrin alpha chain, non-erythrocytic 1 isoform 4

Status: REVIEWED

Source sequence(s)

AL356481

Consensus CDS

CCDS87695.1

UniProtKB/TrEMBL

A0A0D9SGF6, A0A994J4G5

Related

ENSP00000487444.1, ENST00000630866.2

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2353 → 2421

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1663 → 1767

Spectrin; Spectrin repeat

pfam08726
Location:2428 → 2496

EFhand_Ca_insen; Ca2+ insensitive EF hand
NM_001363765.2 → NP_001350694.1 spectrin alpha chain, non-erythrocytic 1 isoform 5

Status: REVIEWED

Source sequence(s)

AL356481

Consensus CDS

CCDS87696.1

UniProtKB/TrEMBL

A0A0D9SF54, A0A994J4G5

Related

ENSP00000486308.1, ENST00000630804.2

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2312 → 2380

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2387 → 2455

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1643 → 1745

Spectrin; Spectrin repeat
NM_001375310.1 → NP_001362239.1 spectrin alpha chain, non-erythrocytic 1 isoform 6

Status: REVIEWED

Source sequence(s)

AL356481

Consensus CDS

CCDS94501.1

UniProtKB/TrEMBL

A0A994J4G5, A0A994J6W3

Related

ENSP00000515764.1, ENST00000704202.1

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2361 → 2429

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2436 → 2504

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1663 → 1765

Spectrin; Spectrin repeat
NM_001375311.2 → NP_001362240.1 spectrin alpha chain, non-erythrocytic 1 isoform 1

Status: REVIEWED

Source sequence(s)

AL356481

Consensus CDS

CCDS48036.1

UniProtKB/TrEMBL

A0A994J4G5

Related

ENSP00000516412.1, ENST00000706487.1

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2332 → 2400

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2407 → 2475

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1663 → 1765

Spectrin; Spectrin repeat
NM_001375312.2 → NP_001362241.2 spectrin alpha chain, non-erythrocytic 1 isoform 8

Status: REVIEWED

Source sequence(s)

AL356481

Consensus CDS

CCDS94500.1

UniProtKB/TrEMBL

A0A0D9SFF6, A0A994J4G5

Related

ENSP00000515765.1, ENST00000704203.1

Conserved Domains (5) summary

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2344 → 2412

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2419 → 2487

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1675 → 1777

Spectrin; Spectrin repeat
NM_001375313.1 → NP_001362242.1 spectrin alpha chain, non-erythrocytic 1 isoform 7

Status: REVIEWED

Source sequence(s)

AL356481

UniProtKB/TrEMBL

A0A994J4G5

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2326 → 2394

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2401 → 2469

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1663 → 1765

Spectrin; Spectrin repeat
NM_001375314.2 → NP_001362243.1 spectrin alpha chain, non-erythrocytic 1 isoform 5

Status: REVIEWED

Source sequence(s)

AL356481

Consensus CDS

CCDS87696.1

UniProtKB/TrEMBL

A0A0D9SF54, A0A994J4G5

Conserved Domains (5) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2312 → 2380

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2387 → 2455

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1643 → 1745

Spectrin; Spectrin repeat
NM_001375318.1 → NP_001362247.1 spectrin alpha chain, non-erythrocytic 1 isoform 9

Status: REVIEWED

Source sequence(s)

AL356481

UniProtKB/TrEMBL

A0A994J4G5

Conserved Domains (5) summary

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2365 → 2433

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam08726
Location:2440 → 2508

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam00435
Location:1675 → 1777

Spectrin; Spectrin repeat
NM_003127.4 → NP_003118.2 spectrin alpha chain, non-erythrocytic 1 isoform 2

See identical proteins and their annotated locations for NP_003118.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AL356481

Consensus CDS

CCDS6905.1

UniProtKB/Swiss-Prot

Q13186, Q13813, Q15324, Q16606, Q59EF1, Q5VXV5, Q5VXV6, Q7Z6M5, Q9P0V0

UniProtKB/TrEMBL

A0A994J4G5

Related

ENSP00000361816.4, ENST00000372731.8

Conserved Domains (6) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2327 → 2395

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1658 → 1762

Spectrin; Spectrin repeat

pfam08726
Location:2402 → 2470

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:2330 → 2395

EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

128552587..128633662

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423783.1 → XP_047279739.1 spectrin alpha chain, non-erythrocytic 1 isoform X1
XM_047423787.1 → XP_047279743.1 spectrin alpha chain, non-erythrocytic 1 isoform X5

UniProtKB/TrEMBL

A0A0D9SFF6

Related

ENSP00000486547.2, ENST00000627441.3
XM_047423790.1 → XP_047279746.1 spectrin alpha chain, non-erythrocytic 1 isoform X8
XM_047423784.1 → XP_047279740.1 spectrin alpha chain, non-erythrocytic 1 isoform X2
XM_047423789.1 → XP_047279745.1 spectrin alpha chain, non-erythrocytic 1 isoform X7
XM_047423791.1 → XP_047279747.1 spectrin alpha chain, non-erythrocytic 1 isoform X9
XM_047423786.1 → XP_047279742.1 spectrin alpha chain, non-erythrocytic 1 isoform X4
XM_047423794.1 → XP_047279750.1 spectrin alpha chain, non-erythrocytic 1 isoform X12
XM_017015060.2 → XP_016870549.1 spectrin alpha chain, non-erythrocytic 1 isoform X15

UniProtKB/TrEMBL

A0A994J4G5

Conserved Domains (5) summary

PTZ00184
Location:2311 → 2460

PTZ00184; calmodulin; Provisional

smart00150
Location:1658 → 1758

SPEC; Spectrin repeats

cd11808
Location:983 → 1035

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2318 → 2386

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:691 → 902

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_047423788.1 → XP_047279744.1 spectrin alpha chain, non-erythrocytic 1 isoform X6
XM_047423796.1 → XP_047279752.1 spectrin alpha chain, non-erythrocytic 1 isoform X14
XM_047423797.1 → XP_047279753.1 spectrin alpha chain, non-erythrocytic 1 isoform X16
XM_047423785.1 → XP_047279741.1 spectrin alpha chain, non-erythrocytic 1 isoform X3
XM_047423795.1 → XP_047279751.1 spectrin alpha chain, non-erythrocytic 1 isoform X13
XM_006717251.3 → XP_006717314.1 spectrin alpha chain, non-erythrocytic 1 isoform X10

UniProtKB/TrEMBL

A0A994J4G5

Related

ENSP00000515766.1, ENST00000704204.1

Conserved Domains (6) summary

cd11808
Location:971 → 1023

SH3_Alpha_Spectrin; Src homology 3 domain of Alpha Spectrin

cd00051
Location:2333 → 2401

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:679 → 890

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00435
Location:1643 → 1747

Spectrin; Spectrin repeat

pfam08726
Location:2408 → 2476

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:2336 → 2401

EF-hand_7; EF-hand domain pair
XM_047423798.1 → XP_047279754.1 spectrin alpha chain, non-erythrocytic 1 isoform X17
XM_047423793.1 → XP_047279749.1 spectrin alpha chain, non-erythrocytic 1 isoform X11
XM_047423799.1 → XP_047279755.1 spectrin alpha chain, non-erythrocytic 1 isoform X18

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

140759427..140840530

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363628.1 → XP_054219603.1 spectrin alpha chain, non-erythrocytic 1 isoform X1
XM_054363632.1 → XP_054219607.1 spectrin alpha chain, non-erythrocytic 1 isoform X5

UniProtKB/TrEMBL

A0A0D9SFF6
XM_054363635.1 → XP_054219610.1 spectrin alpha chain, non-erythrocytic 1 isoform X8
XM_054363629.1 → XP_054219604.1 spectrin alpha chain, non-erythrocytic 1 isoform X2
XM_054363634.1 → XP_054219609.1 spectrin alpha chain, non-erythrocytic 1 isoform X7
XM_054363636.1 → XP_054219611.1 spectrin alpha chain, non-erythrocytic 1 isoform X9
XM_054363631.1 → XP_054219606.1 spectrin alpha chain, non-erythrocytic 1 isoform X4
XM_054363639.1 → XP_054219614.1 spectrin alpha chain, non-erythrocytic 1 isoform X12
XM_054363642.1 → XP_054219617.1 spectrin alpha chain, non-erythrocytic 1 isoform X15
XM_054363633.1 → XP_054219608.1 spectrin alpha chain, non-erythrocytic 1 isoform X6
XM_054363641.1 → XP_054219616.1 spectrin alpha chain, non-erythrocytic 1 isoform X14
XM_054363643.1 → XP_054219618.1 spectrin alpha chain, non-erythrocytic 1 isoform X16
XM_054363630.1 → XP_054219605.1 spectrin alpha chain, non-erythrocytic 1 isoform X3
XM_054363640.1 → XP_054219615.1 spectrin alpha chain, non-erythrocytic 1 isoform X13
XM_054363637.1 → XP_054219612.1 spectrin alpha chain, non-erythrocytic 1 isoform X10
XM_054363644.1 → XP_054219619.1 spectrin alpha chain, non-erythrocytic 1 isoform X17
XM_054363638.1 → XP_054219613.1 spectrin alpha chain, non-erythrocytic 1 isoform X11
XM_054363645.1 → XP_054219620.1 spectrin alpha chain, non-erythrocytic 1 isoform X18