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

    Gene ID: 85021, updated on 5-Feb-2017
    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; 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]
    Orthologs
    Location:
    6q24.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 epithelial cell transforming 2 like Neighboring gene RNA, U6 small nuclear 427, pseudogene Neighboring gene uncharacterized LOC107986650 Neighboring gene ABRA C-terminal like Neighboring gene hdc homolog, cell cycle regulator Neighboring gene taxilin beta

    • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    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
    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 
    Preferred Names
    ralBP1-associated Eps domain-containing protein 1
    Names
    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 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, OTTHUMP00000017308, ENST00000367663, OTTHUMT00000042451
      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_001286611.1NP_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, BC012764, CA424106, R51073
      Consensus CDS
      CCDS69213.1
      UniProtKB/Swiss-Prot
      Q96D71
      UniProtKB/TrEMBL
      B2R7D3
      Related
      ENSP00000392065, OTTHUMP00000017305, ENST00000450536, OTTHUMT00000042447
      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, OTTHUMP00000017306, ENST00000409812, OTTHUMT00000042448
      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, OTTHUMP00000017307, ENST00000258062, OTTHUMT00000042449
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005267178.4XP_005267235.1  

      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 ...
    2. XM_017011388.1XP_016866877.1  

    3. XM_005267179.3XP_005267236.1  

      Related
      ENSP00000434251, OTTHUMP00000236512, ENST00000529597, OTTHUMT00000395685
      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_017011387.1XP_016866876.1  

    5. XM_005267177.3XP_005267234.1  

      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 ...
    6. XM_017011389.1XP_016866878.1  

    7. XM_011536202.2XP_011534504.1  

      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)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

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