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

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

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001128617.3NP_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: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
      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: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_001286612.2NP_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:278369
      EH; Eps15 homology domain
      PRK07764
      Location:97228
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cl27812
      Location:685
      EF-hand_4; Cytoskeletal-regulatory complex EF hand
    4. NM_031922.5NP_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: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: 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_047419432.1XP_047275388.1  ralBP1-associated Eps domain-containing protein 1 isoform X11

    2. XM_005267179.5XP_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: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 ...
    3. XM_047419431.1XP_047275387.1  ralBP1-associated Eps domain-containing protein 1 isoform X10

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

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

      UniProtKB/TrEMBL
      H0YDT0
    6. XM_047419427.1XP_047275383.1  ralBP1-associated Eps domain-containing protein 1 isoform X4

    7. XM_005267177.5XP_005267234.1  ralBP1-associated Eps domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      H0YDT0
      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 ...
    8. XM_047419428.1XP_047275384.1  ralBP1-associated Eps domain-containing protein 1 isoform X5

    9. XM_005267178.6XP_005267235.1  ralBP1-associated Eps domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      H0YDT0
      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 ...
    10. XM_011536202.3XP_011534504.1  ralBP1-associated Eps domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      B2R7D3
      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)
    11. XM_047419433.1XP_047275389.1  ralBP1-associated Eps domain-containing protein 1 isoform X14

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

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

      UniProtKB/TrEMBL
      H0YDT0
    14. XM_047419430.1XP_047275386.1  ralBP1-associated Eps domain-containing protein 1 isoform X9

    15. XM_017011388.3XP_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_054356621.1XP_054212596.1  ralBP1-associated Eps domain-containing protein 1 isoform X11

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

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

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

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

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

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

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

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

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

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

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

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

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

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