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    RIMBP3 RIMS binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 85376, updated on 23-Nov-2023

    Summary

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    Official Symbol
    RIMBP3provided by HGNC
    Official Full Name
    RIMS binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:29344
    See related
    Ensembl:ENSG00000275793 MIM:612699; AllianceGenome:HGNC:29344
    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
    RIM-BP3; RIMBP3A; RIMBP3.1; RIM-BP3.1; RIM-BP3.A
    Summary
    Predicted to enable benzodiazepine receptor binding activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in cytoplasm. Predicted to be active in nucleus. Predicted to colocalize with manchette. [provided by Alliance of Genome Resources, Apr 2022]
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    Genomic context

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    Location:
    22q11.21
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18605815..18611919, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21796920..21803024)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20455682..20461786, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene small Cajal body-specific RNA 17 Neighboring gene small Cajal body-specific RNA 18 Neighboring gene RN7SK pseudogene 131 Neighboring gene MPRA-validated peak4455 silencer Neighboring gene sushi domain containing 2 pseudogene 2 Neighboring gene family with sequence similarity 246 member B

    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. Homeodomain-interacting protein kinase HIPK4 regulates phosphorylation of manchette protein RIMBP3 during spermiogenesis. Liu X, et al. J Biol Chem, 2022 Sep. PMID 35931115, Free PMC Article
    2. Structure and evolution of RIM-BP genes: identification of a novel family member. Mittelstaedt T, et al. Gene, 2007 Nov 15. PMID 17855024
    3. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. Hirosawa M, et al. DNA Res, 2001 Feb 28. PMID 11258795
    4. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
    5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homeodomain-interacting protein kinase HIPK4 regulates phosphorylation of manchette protein RIMBP3 during spermiogenesis.
      Title: Homeodomain-interacting protein kinase HIPK4 regulates phosphorylation of manchette protein RIMBP3 during spermiogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Clone Names

    • KIAA1666, DKFZp434H0735

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables benzodiazepine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 3A
    Names
    RIMS binding protein 3.1

    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_015672.2 → NP_056487.1  RIMS-binding protein 3A

      See identical proteins and their annotated locations for NP_056487.1

      Status: VALIDATED

      Source sequence(s)
      AC023490
      Consensus CDS
      CCDS46665.1
      UniProtKB/Swiss-Prot
      Q8IYP7, Q9BY94, Q9UFD9, Q9UFQ5
      Related
      ENSP00000483386.1, ENST00000619918.1
      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_2023_10

    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
      18605815..18611919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21796920..21803024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UFD9.4 GenPept UniProtKB/Swiss-Prot:Q9UFD9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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