SNTG1 syntrophin gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNTG1provided by HGNC
Official Full Name: syntrophin gamma 1provided by HGNC
Primary source: HGNC:HGNC:13740
See related: Ensembl:ENSG00000147481 MIM:608714; AllianceGenome:HGNC:13740
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: SYN4; G1SYN
Summary: The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
Expression: Biased expression in brain (RPKM 1.6), spleen (RPKM 0.7) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q11.21

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (49909796..50796692)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (50288289..51170264)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (50822356..51709252)

Chromosome 8 - NC_000008.11 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?

Includes a comparison of the Drosophila and human syntrophin proteins.
Title: Syntrophin-2 is required for eye development in Drosophila.
Brain-specific gamma1-syntrophin participates in gamma-enolase translocation towards the plasma membrane, a pre-requisite for its neurotrophic activity.
Title: γ-1-syntrophin mediates trafficking of γ-enolase towards the plasma membrane and enhances its neurotrophic activity.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of genotype prevalence. (HuGE Navigator)
Title: SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.
suggests a differentiated role of a modified dystrophin-associated complex in the central nervous system
Title: Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants at 1p36 are associated with superior frontal gyrus volume. EBI GWAS Catalog EBI GWAS CatalogPubMed
Framingham Heart Study genome-wide association: results for pulmonary function measures. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1133 (e-PCR), detects polymorphism
- UniSTS:57344

D8S589 (e-PCR), detects polymorphism
- UniSTS:3073

G62805 (e-PCR)
- UniSTS:139780

NoName (e-PCR)
- UniSTS:482347

RH123865 (e-PCR)
- UniSTS:136240

RH27231 (e-PCR)
- UniSTS:88137

RH121378 (e-PCR)
- UniSTS:134224

SHGC-80691 (e-PCR)
- UniSTS:102238

SHGC-106016 (e-PCR)
- UniSTS:169589

G62662 (e-PCR)
- UniSTS:139642

SHGC-106022 (e-PCR)
- UniSTS:169599

G32166 (e-PCR)
- UniSTS:72066

B353XD9 (e-PCR)
- UniSTS:38019

D8S1652 (e-PCR)
- UniSTS:18052

WI-20652 (e-PCR)
- UniSTS:23428

NoName (e-PCR)
- UniSTS:488118

SHGC-153621 (e-PCR)
- UniSTS:177847

AFM189yg1 (e-PCR)
- UniSTS:64697

SHGC-82879 (e-PCR)
- UniSTS:103356

RH119693 (e-PCR)
- UniSTS:133062

SHGC-148740 (e-PCR)
- UniSTS:176589

RH66337 (e-PCR)
- UniSTS:30939

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell communication	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info
part_of dystrophin-associated glycoprotein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
part_of syntrophin complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gamma-1-syntrophin

Names: gamma1-syntrophin; syntrophin 4

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.

mRNA and Protein(s)

NM_001287813.3 → NP_001274742.1 gamma-1-syntrophin isoform 1

See identical proteins and their annotated locations for NP_001274742.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 all encode isoform 1.

Source sequence(s)

AC087173, AC090450, AK314084

Consensus CDS

CCDS6147.1

UniProtKB/Swiss-Prot

Q2M3Q0, Q9NSN8, Q9NY98

UniProtKB/TrEMBL

B2RA84

Related

ENSP00000429276.1, ENST00000518864.5

Conserved Domains (2) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001287814.3 → NP_001274743.1 gamma-1-syntrophin isoform 2

See identical proteins and their annotated locations for NP_001274743.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a 5' non-coding exon and an in-frame penultimate coding exon compared to variant 1. The resulting shorter isoform (2) lacks an internal protein segment in the C-terminal region compared to isoform 1.

Source sequence(s)

AC023762, AC090450, AJ003030, DN995011

Consensus CDS

CCDS75737.1

UniProtKB/TrEMBL

B2RA84

Related

ENSP00000431123.1, ENST00000517473.5

Conserved Domains (2) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001321773.2 → NP_001308702.1 gamma-1-syntrophin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 all encode isoform 1.

Source sequence(s)

AC023762, AC090450, AJ003030, AL161971, DN995011

Consensus CDS

CCDS6147.1

UniProtKB/Swiss-Prot

Q2M3Q0, Q9NSN8, Q9NY98

UniProtKB/TrEMBL

B2RA84

Conserved Domains (2) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001321775.2 → NP_001308704.1 gamma-1-syntrophin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.

Source sequence(s)

AC087173, AK314084, BG194056

Consensus CDS

CCDS87608.1

UniProtKB/TrEMBL

A0A2R8Y5T2, A0A2R8Y6P6

Conserved Domains (3) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd00821
Location:191 → 259

PH; Pleckstrin homology (PH) domain
NM_001321776.2 → NP_001308705.1 gamma-1-syntrophin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.

Source sequence(s)

AC023762, AC087173, AL161971, BG194056, DN995011

Consensus CDS

CCDS87608.1

UniProtKB/TrEMBL

A0A2R8Y5T2, A0A2R8Y6P6

Related

ENSP00000495470.1, ENST00000643999.1

Conserved Domains (3) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd00821
Location:191 → 259

PH; Pleckstrin homology (PH) domain
NM_001321777.2 → NP_001308706.1 gamma-1-syntrophin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.

Source sequence(s)

AC023762, AJ003030, BG194056, DN995011

Consensus CDS

CCDS87608.1

UniProtKB/TrEMBL

A0A2R8Y5T2, A0A2R8Y6P6

Conserved Domains (3) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd00821
Location:191 → 259

PH; Pleckstrin homology (PH) domain
NM_001321778.2 → NP_001308707.1 gamma-1-syntrophin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and lacks two 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 5, 6, 7 and 8 all encode isoform 3.

Source sequence(s)

AC023842, AC087173, AK314084, BG194056

Consensus CDS

CCDS87608.1

UniProtKB/TrEMBL

A0A2R8Y5T2, A0A2R8Y6P6

Related

ENSP00000494713.1, ENST00000647273.1

Conserved Domains (3) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd00821
Location:191 → 259

PH; Pleckstrin homology (PH) domain
NM_018967.5 → NP_061840.1 gamma-1-syntrophin isoform 1

See identical proteins and their annotated locations for NP_061840.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2 and 4 all encode isoform 1.

Source sequence(s)

AC023762, AC087173, AC090450, AL161971, DN995011

Consensus CDS

CCDS6147.1

UniProtKB/Swiss-Prot

Q2M3Q0, Q9NSN8, Q9NY98

UniProtKB/TrEMBL

B2RA84

Related

ENSP00000493900.1, ENST00000642720.2

Conserved Domains (2) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RNA

NR_135794.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC023762, AC087173, AC090450, AL161971, DN995011
NR_135795.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (10) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC023762, AC087173, AC090450, AL161971, DN995011
NR_135796.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (11) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC023762, AC087173, AC090450, BC143695, DN995011
NR_135797.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (12) uses alternate splice sites in two internal exons and includes two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC023762, AC087173, AC087366, AC090450, AL161971, DN995011
NR_135798.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13) lacks an internal exon and two 3' exons but contains an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC023762, AJ003030, BG194056, DN995011

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_000008.11 Reference GRCh38.p14 Primary Assembly

Range

49909796..50796692

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421896.1 → XP_047277852.1 gamma-1-syntrophin isoform X1

UniProtKB/Swiss-Prot

Q2M3Q0, Q9NSN8, Q9NY98
XM_017013579.2 → XP_016869068.1 gamma-1-syntrophin isoform X1

UniProtKB/Swiss-Prot

Q2M3Q0, Q9NSN8, Q9NY98

UniProtKB/TrEMBL

B2RA84

Conserved Domains (2) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_047421897.1 → XP_047277853.1 gamma-1-syntrophin isoform X2

UniProtKB/TrEMBL

A0A2R8Y631

Related

ENSP00000494929.1, ENST00000642164.1
XM_024447183.2 → XP_024302951.1 gamma-1-syntrophin isoform X1

UniProtKB/Swiss-Prot

Q2M3Q0, Q9NSN8, Q9NY98

UniProtKB/TrEMBL

B2RA84

Conserved Domains (2) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_047421898.1 → XP_047277854.1 gamma-1-syntrophin isoform X4
XM_017013582.2 → XP_016869071.1 gamma-1-syntrophin isoform X4
XM_017013581.2 → XP_016869070.1 gamma-1-syntrophin isoform X3
XM_017013580.3 → XP_016869069.1 gamma-1-syntrophin isoform X1

UniProtKB/Swiss-Prot

Q2M3Q0, Q9NSN8, Q9NY98

UniProtKB/TrEMBL

B2RA84

Conserved Domains (2) summary

smart00233
Location:284 → 389

PH; Pleckstrin homology domain

cd00992
Location:55 → 136

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...