Rab5if RAB5 interacting factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rab5ifprovided by MGI
Official Full Name: RAB5 interacting factorprovided by MGI
Primary source: MGI:MGI:1914638
See related: Ensembl:ENSMUSG00000027637 AllianceGenome:MGI:1914638
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: RIP5; RCAF1; 1110008F13Rik
Summary: Involved in mitochondrial respirasome assembly. Located in mitochondrion. Is expressed in adrenal gland; gut; liver lobe; and submandibular gland primordium. Human ortholog(s) of this gene implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. Orthologous to human RAB5IF (RAB5 interacting factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 124.4), ovary adult (RPKM 75.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H1; 2 77.89 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (156705042..156715483)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (156863122..156873563)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129504 (e-PCR)
- UniSTS:212808

RH136116 (e-PCR)
- UniSTS:210111

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial respirasome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respirasome assembly	ISO Inferred from Sequence Orthology more info
involved_in multi-pass transmembrane protein insertion into ER membrane	ISO Inferred from Sequence Orthology more info
involved_in multi-pass transmembrane protein insertion into ER membrane	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
part_of multi-pass translocon complex	ISO Inferred from Sequence Orthology more info
part_of multi-pass translocon complex	ISS Inferred from Sequence or Structural Similarity more info
part_of respiratory chain complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: GEL complex subunit OPTI

Names: novel transcript; obligate partner of TMCO1 insertase; rab5-interacting protein; respirasome Complex Assembly Factor 1; uncharacterized protein C20orf24 homolog

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.