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

Gene ID: 85021, updated on 29-Mar-2020

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
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

Genomic context

See REPS1 in Genome Data Viewer
Location:
6q24.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (138903493..138988261, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139225620..139309419, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene epithelial cell transforming 2 like Neighboring gene ACKR4 pseudogene 1 Neighboring gene uncharacterized LOC107986650 Neighboring gene ABRA C-terminal like Neighboring gene Sharpr-MPRA regulatory region 4168 Neighboring gene hdc homolog, cell cycle regulator

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
membrane organization TAS
Traceable Author Statement
more info
 
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
clathrin-coated pit IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..89247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128617.2NP_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, AL832307, BC012764, CA424106, R51073
    Consensus CDS
    CCDS47488.1
    UniProtKB/Swiss-Prot
    Q96D71
    Related
    ENSP00000356635.4, ENST00000367663.8
    Conserved Domains (4) summary
    smart00027
    Location:278369
    EH; Eps15 homology domain
    cd00052
    Location:289355
    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:616708
    MCLC; Mid-1-related chloride channel (MCLC)
    cl08302
    Location:1481
    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_001286611.2NP_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
    Q96D71
    UniProtKB/TrEMBL
    B2R7D3
    Related
    ENSP00000392065.2, ENST00000450536.6
    Conserved Domains (4) summary
    smart00027
    Location:278369
    EH; Eps15 homology domain
    cd00052
    Location:289355
    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:643735
    MCLC; Mid-1-related chloride channel (MCLC)
    cl08302
    Location:1481
    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_001286612.1NP_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, BC012764, BC021211, CA424106, R51073
    Consensus CDS
    CCDS69212.1
    UniProtKB/Swiss-Prot
    Q96D71
    Related
    ENSP00000386699.2, ENST00000409812.6
    Conserved Domains (4) summary
    smart00027
    Location:278369
    EH; Eps15 homology domain
    cd00052
    Location:289355
    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:552644
    MCLC; Mid-1-related chloride channel (MCLC)
    cl08302
    Location:1481
    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 ...
  4. NM_031922.4NP_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, BC012764, CA424106, R51073
    Consensus CDS
    CCDS5193.2
    UniProtKB/Swiss-Prot
    Q96D71
    UniProtKB/TrEMBL
    B2R7D3
    Related
    ENSP00000258062.5, ENST00000258062.9
    Conserved Domains (4) summary
    smart00027
    Location:278369
    EH; Eps15 homology domain
    cd00052
    Location:289355
    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:642734
    MCLC; Mid-1-related chloride channel (MCLC)
    cl08302
    Location:1481
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    138903493..138988261 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267177.4XP_005267234.1  ralBP1-associated Eps domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    smart00027
    Location:278369
    EH; Eps15 homology domain
    cd00052
    Location:289355
    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:642734
    MCLC; Mid-1-related chloride channel (MCLC)
    cl08302
    Location:1481
    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. XM_017011389.1XP_016866878.1  ralBP1-associated Eps domain-containing protein 1 isoform X7

  3. XM_005267179.4XP_005267236.1  ralBP1-associated Eps domain-containing protein 1 isoform X4

    Related
    ENSP00000434251.1, ENST00000529597.5
    Conserved Domains (4) summary
    smart00027
    Location:278369
    EH; Eps15 homology domain
    cd00052
    Location:289355
    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:615707
    MCLC; Mid-1-related chloride channel (MCLC)
    cl08302
    Location:1481
    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 ...
  4. XM_017011387.2XP_016866876.1  ralBP1-associated Eps domain-containing protein 1 isoform X2

  5. XM_011536202.2XP_011534504.1  ralBP1-associated Eps domain-containing protein 1 isoform X5

    Conserved Domains (3) summary
    smart00027
    Location:233324
    EH; Eps15 homology domain
    cd00052
    Location:244310
    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:598690
    MCLC; Mid-1-related chloride channel (MCLC)
  6. XM_005267178.5XP_005267235.1  ralBP1-associated Eps domain-containing protein 1 isoform X3

    Conserved Domains (4) summary
    smart00027
    Location:278369
    EH; Eps15 homology domain
    cd00052
    Location:289355
    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:643735
    MCLC; Mid-1-related chloride channel (MCLC)
    cl08302
    Location:1481
    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 ...
  7. XM_017011388.2XP_016866877.1  ralBP1-associated Eps domain-containing protein 1 isoform X6

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