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

Gene ID: 85021, updated on 26-Nov-2014
Official Symbol
REPS1provided by HGNC
Official Full Name
RALBP1 associated Eps domain containing 1provided by HGNC
Primary source
HGNC:HGNC:15578
Locus tag
RP3-509I19.2
See related
Ensembl:ENSG00000135597; HPRD:09687; MIM:614825; Vega:OTTHUMG00000015685
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
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]
See REPS1 in Epigenomics, MapViewer
Location:
6q24.1
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (138904015..138988282, 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 uncharacterized LOC100507462 Neighboring gene coiled-coil domain containing 28A Neighboring gene epithelial cell transforming 2 like Neighboring gene chemokine (C-C motif) receptor-like 1 pseudogene Neighboring gene ABRA C-terminal like Neighboring gene headcase homolog (Drosophila)

  • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
Products Interactant Other Gene Complex Source Pubs Description

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
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
coated pit IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ralBP1-associated Eps domain-containing protein 1
Names
ralBP1-associated Eps domain-containing protein 1
ralBP1-interacting protein 1

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 

    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
    Conserved Domains (2) 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 ...
  2. NM_001286611.1NP_001273540.1  ralBP1-associated Eps domain-containing protein 1 isoform c

    See proteins identical to 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, BC012764, CA424106, R51073
    Consensus CDS
    CCDS69213.1
    UniProtKB/TrEMBL
    B2R7D3
    UniProtKB/Swiss-Prot
    Q96D71
    Related
    ENSP00000392065, OTTHUMP00000017305, ENST00000450536, OTTHUMT00000042447
    Conserved Domains (2) 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 ...
  3. NM_001286612.1NP_001273541.1  ralBP1-associated Eps domain-containing protein 1 isoform d

    See proteins identical to 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
    Conserved Domains (2) 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 ...
  4. NM_031922.4NP_114128.3  ralBP1-associated Eps domain-containing protein 1 isoform a

    See proteins identical to 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/TrEMBL
    B2R7D3
    UniProtKB/Swiss-Prot
    Q96D71
    Conserved Domains (2) 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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    138904015..138988282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267178.2XP_005267235.1  

    Conserved Domains (2) 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 ...
  2. XM_006715587.1XP_006715650.1  

    Conserved Domains (2) summary
    smart00027
    Location:257348
    EH; Eps15 homology domain
    cd00052
    Location:268334
    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 ...
  3. XM_005267179.1XP_005267236.1  

    Related
    ENSP00000356635, OTTHUMP00000017308, ENST00000367663, OTTHUMT00000042451
    Conserved Domains (2) 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 ...
  4. XM_005267177.1XP_005267234.1  

    Related
    ENSP00000258062, OTTHUMP00000017307, ENST00000258062, OTTHUMT00000042449
    Conserved Domains (2) 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 ...

RNA

  1. XR_245555.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    139488134..139572395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    136786798..136871047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)