REPS1 RALBP1 associated Eps domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: REPS1provided by HGNC
Official Full Name: RALBP1 associated Eps domain containing 1provided by HGNC
Primary source: HGNC:HGNC:15578
See related: Ensembl:ENSG00000135597 MIM:614825; AllianceGenome:HGNC:15578
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: NBIA7; RALBP1
Summary: This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression: Ubiquitous expression in testis (RPKM 17.4), skin (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (138903493..138988253, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (140092038..140176789, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (139224630..139309390, complement)

Chromosome 6 - NC_000006.12 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?

Phosphorylation of REPS1 at Ser709 by RSK attenuates the recycling of transferrin receptor.
Title: Phosphorylation of REPS1 at Ser709 by RSK attenuates the recycling of transferrin receptor.
SGIP1 and the signaling adaptor Reps1 interact with ITSN1 in vivo.
Title: Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.
RALBP1 and ABCG2 transport doxorubicin differently in lung and breast cancer cell lines
Title: Doxorubicin transport by RALBP1 and ABCG2 in lung and breast cancer.
Inhibition of RALBP1 by polyclonal antibodies causes increased drug-accumulation and increased cytotoxicity which demonstrate the potential utility of targeting RALBP1 in the treatment of leukemia.
Title: RALBP1/RLIP76 mediates multidrug resistance.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodegeneration with brain iron accumulation 7 MedGen: C4693583 OMIM: 617916 GeneReviews: Not available	Compare labs

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

A009U44 (e-PCR)
- UniSTS:45062

G62477 (e-PCR)
- UniSTS:139535

RH16160 (e-PCR)
- UniSTS:36408

STS-AA025663 (e-PCR)
- UniSTS:51554

SHGC-64068 (e-PCR)
- UniSTS:3172

RH36111 (e-PCR)
- UniSTS:81301

G32860 (e-PCR)
- UniSTS:117439

SHGC-110524 (e-PCR)
- UniSTS:167882

RH48120 (e-PCR)
- UniSTS:78542

SHGC-105135 (e-PCR)
- UniSTS:169183

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ralBP1-associated Eps domain-containing protein 1

Names: ralBP1-interacting protein 1

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_034016.1 RefSeqGene

Range

5009..89769

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001128617.3 → NP_001122089.1 ralBP1-associated Eps domain-containing protein 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 3, resulting in an isoform (b) that is shorter than isoform c.

Source sequence(s)

AA025663, AA653442, AL121834, AL832307, BC012764, CA424106, R51073

Consensus CDS

CCDS47488.1

UniProtKB/TrEMBL

H0YDT0

Related

ENSP00000356635.4, ENST00000367663.8

Conserved Domains (4) summary

smart00027
Location:278 → 369

EH; Eps15 homology domain

cd00052
Location:289 → 355

EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

pfam05934
Location:616 → 708

MCLC; Mid-1-related chloride channel (MCLC)

cl08302
Location:14 → 81

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 ...
NM_001286611.2 → NP_001273540.1 ralBP1-associated Eps domain-containing protein 1 isoform c

See identical proteins and their annotated locations for NP_001273540.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AA025663, AA653442, AF251052, AK312938, AL121834, BC012764, CA424106, R51073

Consensus CDS

CCDS69213.1

UniProtKB/Swiss-Prot

B7ZBZ8, B7ZBZ9, B7ZC00, J3KP76, Q5JWJ5, Q5JWJ6, Q5JWJ7, Q8NDR7, Q8WU62, Q96D71, Q9BXY9

UniProtKB/TrEMBL

H0YDT0

Related

ENSP00000392065.2, ENST00000450536.7

Conserved Domains (4) summary

smart00027
Location:278 → 369

EH; Eps15 homology domain

cd00052
Location:289 → 355

EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

pfam05934
Location:643 → 735

MCLC; Mid-1-related chloride channel (MCLC)

cl08302
Location:14 → 81

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 ...
NM_001286612.2 → NP_001273541.1 ralBP1-associated Eps domain-containing protein 1 isoform d

See identical proteins and their annotated locations for NP_001273541.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks three alternate exons that result in the loss of two in-frame segments in the central coding region, compared to variant 3. The encoded isoform (d) is shorter than isoform c.

Source sequence(s)

AA025663, AA653442, AL121834, BC012764, BC021211, CA424106, R51073

Consensus CDS

CCDS69212.1

UniProtKB/TrEMBL

H0YDT0

Related

ENSP00000386699.2, ENST00000409812.6

Conserved Domains (3) summary

smart00027
Location:278 → 369

EH; Eps15 homology domain

PRK07764
Location:97 → 228

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cl27812
Location:6 → 85

EF-hand_4; Cytoskeletal-regulatory complex EF hand
NM_031922.5 → NP_114128.3 ralBP1-associated Eps domain-containing protein 1 isoform a

See identical proteins and their annotated locations for NP_114128.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the central coding region, compared to variant 3, resulting in an isoform (a) that is shorter than isoform c.

Source sequence(s)

AA025663, AA653442, AK312938, AL121834, BC012764, CA424106, R51073

Consensus CDS

CCDS5193.2

UniProtKB/TrEMBL

H0YDT0

Related

ENSP00000258062.5, ENST00000258062.9

Conserved Domains (4) summary

smart00027
Location:278 → 369

EH; Eps15 homology domain

cd00052
Location:289 → 355

EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

pfam05934
Location:642 → 734

MCLC; Mid-1-related chloride channel (MCLC)

cl08302
Location:14 → 81

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 ...

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

138903493..138988253 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419432.1 → XP_047275388.1 ralBP1-associated Eps domain-containing protein 1 isoform X11
XM_005267179.5 → XP_005267236.1 ralBP1-associated Eps domain-containing protein 1 isoform X7

UniProtKB/TrEMBL

H0YDT0

Related

ENSP00000434251.1, ENST00000529597.5

Conserved Domains (4) summary

smart00027
Location:278 → 369

EH; Eps15 homology domain

cd00052
Location:289 → 355

EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

pfam05934
Location:615 → 707

MCLC; Mid-1-related chloride channel (MCLC)

cl08302
Location:14 → 81

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 ...
XM_047419431.1 → XP_047275387.1 ralBP1-associated Eps domain-containing protein 1 isoform X10
XM_047419429.1 → XP_047275385.1 ralBP1-associated Eps domain-containing protein 1 isoform X6
XM_017011387.3 → XP_016866876.1 ralBP1-associated Eps domain-containing protein 1 isoform X2

UniProtKB/TrEMBL

H0YDT0
XM_047419427.1 → XP_047275383.1 ralBP1-associated Eps domain-containing protein 1 isoform X4
XM_005267177.5 → XP_005267234.1 ralBP1-associated Eps domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

H0YDT0

Conserved Domains (4) summary

smart00027
Location:278 → 369

EH; Eps15 homology domain

cd00052
Location:289 → 355

EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

pfam05934
Location:642 → 734

MCLC; Mid-1-related chloride channel (MCLC)

cl08302
Location:14 → 81

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 ...
XM_047419428.1 → XP_047275384.1 ralBP1-associated Eps domain-containing protein 1 isoform X5
XM_005267178.6 → XP_005267235.1 ralBP1-associated Eps domain-containing protein 1 isoform X3

UniProtKB/TrEMBL

H0YDT0

Conserved Domains (4) summary

smart00027
Location:278 → 369

EH; Eps15 homology domain

cd00052
Location:289 → 355

EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

pfam05934
Location:643 → 735

MCLC; Mid-1-related chloride channel (MCLC)

cl08302
Location:14 → 81

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 ...
XM_011536202.3 → XP_011534504.1 ralBP1-associated Eps domain-containing protein 1 isoform X8

UniProtKB/TrEMBL

B2R7D3

Conserved Domains (3) summary

smart00027
Location:233 → 324

EH; Eps15 homology domain

cd00052
Location:244 → 310

EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

pfam05934
Location:598 → 690

MCLC; Mid-1-related chloride channel (MCLC)
XM_047419433.1 → XP_047275389.1 ralBP1-associated Eps domain-containing protein 1 isoform X14
XM_047419434.1 → XP_047275390.1 ralBP1-associated Eps domain-containing protein 1 isoform X15
XM_017011389.2 → XP_016866878.1 ralBP1-associated Eps domain-containing protein 1 isoform X13

UniProtKB/TrEMBL

H0YDT0
XM_047419430.1 → XP_047275386.1 ralBP1-associated Eps domain-containing protein 1 isoform X9
XM_017011388.3 → XP_016866877.1 ralBP1-associated Eps domain-containing protein 1 isoform X12

UniProtKB/TrEMBL

B2R7D3

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

140092038..140176789 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356621.1 → XP_054212596.1 ralBP1-associated Eps domain-containing protein 1 isoform X11
XM_054356617.1 → XP_054212592.1 ralBP1-associated Eps domain-containing protein 1 isoform X7
XM_054356620.1 → XP_054212595.1 ralBP1-associated Eps domain-containing protein 1 isoform X10
XM_054356616.1 → XP_054212591.1 ralBP1-associated Eps domain-containing protein 1 isoform X6
XM_054356612.1 → XP_054212587.1 ralBP1-associated Eps domain-containing protein 1 isoform X2
XM_054356614.1 → XP_054212589.1 ralBP1-associated Eps domain-containing protein 1 isoform X4
XM_054356611.1 → XP_054212586.1 ralBP1-associated Eps domain-containing protein 1 isoform X1
XM_054356615.1 → XP_054212590.1 ralBP1-associated Eps domain-containing protein 1 isoform X5
XM_054356613.1 → XP_054212588.1 ralBP1-associated Eps domain-containing protein 1 isoform X3
XM_054356618.1 → XP_054212593.1 ralBP1-associated Eps domain-containing protein 1 isoform X8
XM_054356624.1 → XP_054212599.1 ralBP1-associated Eps domain-containing protein 1 isoform X14
XM_054356625.1 → XP_054212600.1 ralBP1-associated Eps domain-containing protein 1 isoform X15
XM_054356623.1 → XP_054212598.1 ralBP1-associated Eps domain-containing protein 1 isoform X13
XM_054356619.1 → XP_054212594.1 ralBP1-associated Eps domain-containing protein 1 isoform X9
XM_054356622.1 → XP_054212597.1 ralBP1-associated Eps domain-containing protein 1 isoform X12