RAB5IF
entrez
55969
canonical
uniprot
Q9BUV8
canonical
ensembl
ENSG00000101084
resolver
ensp
ENSP00000340164
resolver
ensp
ENSP00000341213
resolver
ensp
ENSP00000362958
resolver
ensp
ENSP00000761649
resolver
genesymbol
RAB5IF
resolver
genesymbol_syn
C20orf24
resolver
genesymbol_syn
OPTI
resolver
genesymbol_syn
RCAF1
resolver
hgnc
HGNC:15870
resolver
uniprot
E1P5U0
resolver
uniprot
O00605
resolver
uniprot
Q5QPG6
resolver
uniprot
Q5QPG7
resolver
uniprot
Q9BT03
resolver
uniprot
Q9BZU7
resolver
uniprot
Q9UI05
resolver
uniprot_entry
RCAF1_HUMAN
resolver
uniprot_sec
E1P5U0
resolver
uniprot_sec
O00605
resolver
uniprot_sec
Q5QPG6
resolver
uniprot_sec
Q5QPG7
resolver
uniprot_sec
Q9BT03
resolver
uniprot_sec
Q9BZU7
resolver
uniprot_sec
Q9UI05
resolver
amino_acid_sequence
MSGGRRKEEPPQPQLANGALKVSVWSKVLRSDAAWEDKDEFLDVIYWFRQIIAVVLGVIWGVLPLRGFLGIAGFCLINAGVLYLYFSNYLQIDEEEYGGTWELTKEGFMTSFALFMVCVADSFTTGHLDHLLHCHPL
uniprot
proteins
disease_involvement
DISEASE: Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2 (CFSMR2) [MIM:616994]: An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech. {ECO:0000269|PubMed:35614220, ECO:0000269|PubMed:36150687}. Note=The disease may be caused by variants affecting the gene represented in this entry. Loss of RAB5IF in fibroblasts from a CFSMR2 patient carrying RAB5IF variant p.Trp25ter and negative for TMCO1 pathogenic variants, is associated with lack of TMCO1 expression. This suggests a possible functional relation between the two proteins and involvement in a common disease mechanism. {ECO:0000269|PubMed:35614220}.
uniprot
proteins
function
FUNCTION: Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane (PubMed:36261522). In addition to its role in multi-pass membrane insertion, RAB5IF/OPTI also acts as an assembly factor for mitochondrial respiratory complexes (PubMed:31536960). {ECO:0000269|PubMed:31536960, ECO:0000269|PubMed:36261522}.
uniprot
proteins
mass_dalton
15487
uniprot
proteins
protein_family
EMC6 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
35614220
uniprot
proteins
pubmed
36150687
uniprot
proteins
pubmed
36261522
uniprot
proteins
pubmed
8824393
uniprot
proteins
sequence_length
137
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:36261522}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion inner membrane {ECO:0000269|PubMed:31536960}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 45..65; /note="Helical"; /evidence="ECO:0000250|UniProtKB:A0A8I3S9V6"; TRANSMEM 67..84; /note="Helical"; /evidence="ECO:0000250|UniProtKB:A0A8I3S9V6"; TRANSMEM 104..127; /note="Helical"; /evidence="ECO:0000250|UniProtKB:A0A8I3S9V6
uniprot
proteins