RAB5IF (RAB5 interacting factor)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 55969
Gene name RAB5 interacting factor
Gene symbol RAB5IF
Synonyms (NCBI Gene)
C20orf24CFSMR2OPTIPNAS-11RCAF1RIP5
Chromosome 20
Chromosome location 20q11.23
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 31536960
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion IMP 31536960
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619960 15870 ENSG00000101084
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUV8
Protein name GEL complex subunit OPTI (Obligate partner of TMCO1 insertase) (Rab5-interacting protein) (RIP5) (Respirasome Complex Assembly Factor 1)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07019 Rab5ip 44 → 120 Rab5-interacting protein (Rab5ip) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in embryonic stem cells and differentiated neuronal cells. {ECO:0000269|PubMed:31536960}.
Sequence 
MSGGRRKEEPPQPQLANGALKVSVWSKVLRSDAAWEDKDEFLDVIYWFRQIIAVVLGVIW
GVLPLRGFLGIAGFCLINAGVLYLYFSNYLQIDEEEYGGTWELTKEGFMTSFALFMVCVA
DSFTTGHLDHLLHCHPL
Sequence length 137
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 Likely pathogenic; Pathogenic rs1464308137 RCV002241663
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Likely pathogenic; Pathogenic rs1464308137 RCV002267636
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (17)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations