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

Gene ID: 150221, updated on 27-Nov-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, Nov 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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