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

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, Nov 2024]
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Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed

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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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)

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