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

Gene ID: 85376, updated on 9-Dec-2024

Summary

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 manchette. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

See RIMBP3 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 (18605815..18611919, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21796920..21803024)
RS_2024_09 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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_015672.2NP_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:15731633
    SH3_RIM-BP; Src homology 3 domains of Rab3-interacting molecules (RIMs) binding proteins
    cd12014
    Location:836895
    SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
    pfam00041
    Location:9951056
    fn3; Fibronectin type III domain
    cd16269
    Location:106117
    GBP_C; coiled coil [structural motif]
    cl17036
    Location:14561517
    SH3; Src Homology 3 domain superfamily
    cl20817
    Location:75139
    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
    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)