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

Gene ID: 85021, updated on 3-Apr-2024

Summary

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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

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See REPS1 in Genome Data Viewer
Location:
6q24.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138903493..138988253, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (140092038..140176789, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139224630..139309390, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene epithelial cell transforming 2 like Neighboring gene U6 spliceosomal RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25164 Neighboring gene uncharacterized LOC107986650 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:139298793-139299367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17602 Neighboring gene NANOG hESC enhancer GRCh37_chr6:139331747-139332499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17603 Neighboring gene Sharpr-MPRA regulatory region 12009 Neighboring gene ABRA C-terminal like Neighboring gene Sharpr-MPRA regulatory region 5517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139447769-139448270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25165 Neighboring gene Sharpr-MPRA regulatory region 4168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139484703-139485202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25168 Neighboring gene hdc homolog, cell cycle regulator Neighboring gene taxilin beta

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Phosphorylation of REPS1 at Ser709 by RSK attenuates the recycling of transferrin receptor. Kim SH, et al. BMB Rep, 2021 May. PMID 33407999, Free PMC Article
  2. RALBP1/RLIP76 mediates multidrug resistance. Drake KJ, et al. Int J Oncol, 2007 Jan. PMID 17143522
  3. Doxorubicin transport by RALBP1 and ABCG2 in lung and breast cancer. Singhal SS, et al. Int J Oncol, 2007 Mar. PMID 17273774
  4. Cloning, expression and characterization of a novel human REPS1 gene. Xu J, et al. Biochim Biophys Acta, 2001 Dec 3. PMID 11750063
  5. HSF-1 interacts with Ral-binding protein 1 in a stress-responsive, multiprotein complex with HSP90 in vivo. Hu Y, et al. J Biol Chem, 2003 May 9. PMID 12621024

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. SGIP1 and the signaling adaptor Reps1 interact with ITSN1 in vivo.
    Title: Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.
  3. 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.
  4. 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_034016.1 RefSeqGene

    Range
    5009..89769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...

  2. 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 ...

  3. 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

  4. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    138903493..138988253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419432.1 → XP_047275388.1  ralBP1-associated Eps domain-containing protein 1 isoform X11

  2. 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 ...

  3. XM_047419431.1 → XP_047275387.1  ralBP1-associated Eps domain-containing protein 1 isoform X10

  4. XM_047419429.1 → XP_047275385.1  ralBP1-associated Eps domain-containing protein 1 isoform X6

  5. XM_017011387.3 → XP_016866876.1  ralBP1-associated Eps domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    H0YDT0

  6. XM_047419427.1 → XP_047275383.1  ralBP1-associated Eps domain-containing protein 1 isoform X4

  7. 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 ...

  8. XM_047419428.1 → XP_047275384.1  ralBP1-associated Eps domain-containing protein 1 isoform X5

  9. 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 ...

  10. 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)

  11. XM_047419433.1 → XP_047275389.1  ralBP1-associated Eps domain-containing protein 1 isoform X14

  12. XM_047419434.1 → XP_047275390.1  ralBP1-associated Eps domain-containing protein 1 isoform X15

  13. XM_017011389.2 → XP_016866878.1  ralBP1-associated Eps domain-containing protein 1 isoform X13

    UniProtKB/TrEMBL
    H0YDT0

  14. XM_047419430.1 → XP_047275386.1  ralBP1-associated Eps domain-containing protein 1 isoform X9

  15. XM_017011388.3 → XP_016866877.1  ralBP1-associated Eps domain-containing protein 1 isoform X12

    UniProtKB/TrEMBL
    B2R7D3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    140092038..140176789 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356621.1 → XP_054212596.1  ralBP1-associated Eps domain-containing protein 1 isoform X11

  2. XM_054356617.1 → XP_054212592.1  ralBP1-associated Eps domain-containing protein 1 isoform X7

  3. XM_054356620.1 → XP_054212595.1  ralBP1-associated Eps domain-containing protein 1 isoform X10

  4. XM_054356616.1 → XP_054212591.1  ralBP1-associated Eps domain-containing protein 1 isoform X6

  5. XM_054356612.1 → XP_054212587.1  ralBP1-associated Eps domain-containing protein 1 isoform X2

  6. XM_054356614.1 → XP_054212589.1  ralBP1-associated Eps domain-containing protein 1 isoform X4

  7. XM_054356611.1 → XP_054212586.1  ralBP1-associated Eps domain-containing protein 1 isoform X1

  8. XM_054356615.1 → XP_054212590.1  ralBP1-associated Eps domain-containing protein 1 isoform X5

  9. XM_054356613.1 → XP_054212588.1  ralBP1-associated Eps domain-containing protein 1 isoform X3

  10. XM_054356618.1 → XP_054212593.1  ralBP1-associated Eps domain-containing protein 1 isoform X8

  11. XM_054356624.1 → XP_054212599.1  ralBP1-associated Eps domain-containing protein 1 isoform X14

  12. XM_054356625.1 → XP_054212600.1  ralBP1-associated Eps domain-containing protein 1 isoform X15

  13. XM_054356623.1 → XP_054212598.1  ralBP1-associated Eps domain-containing protein 1 isoform X13

  14. XM_054356619.1 → XP_054212594.1  ralBP1-associated Eps domain-containing protein 1 isoform X9

  15. XM_054356622.1 → XP_054212597.1  ralBP1-associated Eps domain-containing protein 1 isoform X12

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96D71.3 GenPept UniProtKB/Swiss-Prot:Q96D71

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