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RAB5IF RAB5 interacting factor [ Homo sapiens (human) ]

Gene ID: 55969, updated on 4-Jan-2025

Summary

Official Symbol
RAB5IFprovided by HGNC
Official Full Name
RAB5 interacting factorprovided by HGNC
Primary source
HGNC:HGNC:15870
See related
Ensembl:ENSG00000101084 MIM:619960; AllianceGenome:HGNC:15870
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
OPTI; RIP5; RCAF1; CFSMR2; PNAS-11; C20orf24
Summary
Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane. Located in mitochondrion. Part of multi-pass translocon complex. Implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in bone marrow (RPKM 56.7), esophagus (RPKM 45.4) and 25 other tissues See more
Orthologs
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Genomic context

See RAB5IF in Genome Data Viewer
Location:
20q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36605779..36612557)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38329630..38336422)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35234182..35240960)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene DLGAP4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35170723-35171376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35171377-35172030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172031-35172684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172685-35173338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35175959-35176887 Neighboring gene NANOG hESC enhancer GRCh37_chr20:35191013-35191578 Neighboring gene myosin light chain 9 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:35199946-35200498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12875 Neighboring gene TGIF2-RAB5IF readthrough Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35213881-35214870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35217734-35218362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35219932-35220810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17810 Neighboring gene TGFB induced factor homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17812 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35233097-35233496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12876 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:35235327-35236526 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35261429-35261930 Neighboring gene Src like adaptor 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:35271232-35271902 Neighboring gene NDRG family member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35305009-35305810 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35324917-35325417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35373956-35374922

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with chromosome 20 open reading frame 24 (C20orf24) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

General gene information

Readthrough TGIF2-RAB5IF

Readthrough gene: TGIF2-RAB5IF, Included gene: TGIF2

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in endoplasmic reticulum membrane  
located_in mitochondrial inner membrane  
located_in mitochondrion PubMed 
part_of multi-pass translocon complex PubMed 

General protein information

Preferred Names
GEL complex subunit OPTI
Names
obligate partner of TMCO1 insertase
rab5-interacting protein
respirasome complex assembly factor 1
uncharacterized protein C20orf24

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_001199534.2NP_001186463.1  GEL complex subunit OPTI isoform c

    See identical proteins and their annotated locations for NP_001186463.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (c) is longer and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF112213, BC001871, BG395753, BI223439
    Consensus CDS
    CCDS56190.1
    UniProtKB/Swiss-Prot
    E1P5U0, O00605, Q5QPG6, Q5QPG7, Q9BT03, Q9BUV8, Q9BZU7, Q9UI05
    Related
    ENSP00000362958.5, ENST00000373852.9
    Conserved Domains (1) summary
    pfam07019
    Location:44118
    Rab5ip; Rab5-interacting protein (Rab5ip)
  2. NM_001374178.1NP_001361107.1  GEL complex subunit OPTI isoform d

    Status: VALIDATED

    Source sequence(s)
    AL050318
    Conserved Domains (1) summary
    pfam07019
    Location:44116
    Rab5ip; Rab5-interacting protein (Rab5ip)
  3. NM_018840.5NP_061328.1  GEL complex subunit OPTI isoform a

    See identical proteins and their annotated locations for NP_061328.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the shortest isoform (a).
    Source sequence(s)
    AF112213, BG395753, BI223439
    Consensus CDS
    CCDS13280.1
    UniProtKB/Swiss-Prot
    Q9BUV8
    Related
    ENSP00000340164.3, ENST00000344795.8
    Conserved Domains (1) summary
    pfam07019
    Location:44120
    Rab5ip; Rab5-interacting protein (Rab5ip)
  4. NM_199483.3NP_955777.1  GEL complex subunit OPTI isoform b

    See identical proteins and their annotated locations for NP_955777.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (b) is longer and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF112213, BG395753, BI223439, BU189639
    Consensus CDS
    CCDS13279.1
    UniProtKB/Swiss-Prot
    Q9BUV8
    Related
    ENSP00000341213.3, ENST00000342422.3
    Conserved Domains (1) summary
    pfam07019
    Location:4479
    Rab5ip; Rab5-interacting protein (Rab5ip)

RNA

  1. NR_026562.4 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF112213, AL050318, BG395753, BI223439
    Related
    ENST00000483815.5
  2. NR_164350.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL050318
    Related
    ENST00000492721.5
  3. NR_164351.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL050318

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    36605779..36612557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    38329630..38336422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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