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    RIMBP3C RIMS binding protein 3C [ Homo sapiens (human) ]

    Gene ID: 150221, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RIMBP3Cprovided by HGNC
    Official Full Name
    RIMS binding protein 3Cprovided by HGNC
    Primary source
    HGNC:HGNC:33892
    See related
    Ensembl:ENSG00000183246 MIM:612701; AllianceGenome:HGNC:33892
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RIMBP3.3; RIM-BP3.3
    Summary
    Predicted to enable benzodiazepine receptor binding activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See RIMBP3C in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21545666..21551461, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21899955..21905750, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene small Cajal body-specific RNA 18 Neighboring gene RN7SK pseudogene 221 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21908512-21908665 Neighboring gene Sharpr-MPRA regulatory region 10827 Neighboring gene ubiquitin conjugating enzyme E2 L3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21914232-21914792 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21920997-21921184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21945023-21945836 Neighboring gene VISTA enhancer hs2026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21977501-21978034 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21979673-21979941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21982145-21982752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21986781-21987280 Neighboring gene YdjC chitooligosaccharide deacetylase homolog Neighboring gene coiled-coil domain containing 116

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Structure and evolution of RIM-BP genes: identification of a novel family member. Mittelstaedt T, et al. Gene, 2007 Nov 15. PMID 17855024
    2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. Voss M, et al. BMC Immunol, 2009 Oct 6. PMID 19807924, Free PMC Article
    3. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142
    4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables benzodiazepine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in fertilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT involved_in neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with manchette IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RIMS-binding protein 3C
    Names
    RIM-BP3.C
    RIMS binding protein 3.3

    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.

    mRNA and Protein(s)

    1. NM_001128633.2 → NP_001122105.1  RIMS-binding protein 3C

      See identical proteins and their annotated locations for NP_001122105.1

      Status: VALIDATED

      Source sequence(s)
      AP000557, BF513974, BU738457
      Consensus CDS
      CCDS46669.1
      UniProtKB/Swiss-Prot
      A6NJZ7
      Related
      ENSP00000390630.1, ENST00000433039.2
      Conserved Domains (6) summary
      cd11851
      Location:1573 → 1633
      SH3_RIM-BP; Src homology 3 domains of Rab3-interacting molecules (RIMs) binding proteins
      cd12014
      Location:836 → 895
      SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      pfam00041
      Location:995 → 1056
      fn3; Fibronectin type III domain
      cd16269
      Location:106 → 117
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:1456 → 1517
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:75 → 139
      GBP_C; Guanylate-binding protein, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21545666..21551461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NJZ7.3 GenPept UniProtKB/Swiss-Prot:A6NJZ7

    Gene LinkOut

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