Aliases for RAB5IF Gene

Aliases for RAB5IF Gene

  • RAB5 Interacting Factor 2 3 5
  • Respirasome Complex Assembly Factor 1 2 3 3 4
  • RCAF1 2 3 4
  • RIP5 2 3 4
  • Rab5-Interacting Protein 3 4
  • C20orf24 3 4
  • PNAS-11 2 3
  • Chromosome 20 Open Reading Frame 24 2
  • Uncharacterized Protein C20orf24 3
  • RAB5IF 5

External Ids for RAB5IF Gene

Previous HGNC Symbols for RAB5IF Gene

  • C20orf24

Summaries for RAB5IF Gene

GeneCards Summary for RAB5IF Gene

RAB5IF (RAB5 Interacting Factor) is a Protein Coding gene. Diseases associated with RAB5IF include Colorectal Cancer, Hereditary Nonpolyposis, Type 7. An important paralog of this gene is TGIF2-RAB5IF.

UniProtKB/Swiss-Prot Summary for RAB5IF Gene

Additional gene information for RAB5IF Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB5IF Gene

Genomics for RAB5IF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB5IF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J036604 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.9 886 4.7 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 REST TFE3 LOC107985397 RAB5IF lnc-SLA2-1 RBM12 RBM39 RBL1 CPNE1 DSN1 SRC MYL9
GH20J036643 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 +40.2 40170 4.1 GATAD2A ZNF7 POLR2A CEBPA KMT2B EED SOX13 RUNX3 TGIF2 KAT7 SLA2 NDRG3 RAB5IF RBL1 SAMHD1 TGIF2 KR153194-107 RF00017-3573
GH20J036875 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11 +270.2 270207 1.6 HNRNPL GATAD2A NFKBIZ ZSCAN4 RXRB ZNF24 PBX2 RNF2 MAX PKNOX1 TLDC2 DSN1 RAB5IF piR-34822-197 SAMHD1
GH20J036583 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 12.4 -20.7 -20706 3.7 ATF7 PRDM10 ZNF629 KDM1A POLR2A ZNF600 ZNF561 ZBTB20 ZNF639 ZNF524 RAB5IF MYL9 piR-43259 piR-51730 TGIF2 TGIF2-RAB5IF RF00017-3573 lnc-SLA2-1
GH20J036627 Enhancer 1 FANTOM5 ENCODE dbSUPER 13.8 +23.5 23503 3.5 SP1 CREB1 ATF7 ZNF24 CEBPA SCRT2 CEBPB RUNX3 FOXA2 ZBTB40 KR153194-107 RAB5IF NDRG3 MYL9 SLA2 RBL1 RF00017-3573
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB5IF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB5IF

Genomic Locations for RAB5IF Gene

Genomic Locations for RAB5IF Gene
chr20:36,605,779-36,612,557
(GRCh38/hg38)
Size:
6,779 bases
Orientation:
Plus strand
chr20:35,234,137-35,240,960
(GRCh37/hg19)
Size:
6,824 bases
Orientation:
Plus strand

Genomic View for RAB5IF Gene

Genes around RAB5IF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB5IF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB5IF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB5IF Gene

Proteins for RAB5IF Gene

  • Protein details for RAB5IF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUV8-RCAF1_HUMAN
    Recommended name:
    Respirasome Complex Assembly Factor 1
    Protein Accession:
    Q9BUV8
    Secondary Accessions:
    • E1P5U0
    • O00605
    • Q5QPG6
    • Q5QPG7
    • Q9BT03
    • Q9BZU7
    • Q9UI05

    Protein attributes for RAB5IF Gene

    Size:
    137 amino acids
    Molecular mass:
    15487 Da
    Quaternary structure:
    • Interacts with NDUFS3, NDUFA4, NDUFV1, NDUFA9 and NDUFS8 of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:31536960). Interacts with UQCRC2 of the ubiquinol-cytochrome c reductase complex (Complex III) (PubMed:31536960). Interacts with COX5A and COX7C of the cytochrome c oxidase complex (Complex IV) (PubMed:31536960).
    Miscellaneous:
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for RAB5IF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB5IF Gene

Post-translational modifications for RAB5IF Gene

  • Ubiquitination at Lys27
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAB5IF Gene

Domains & Families for RAB5IF Gene

Gene Families for RAB5IF Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for RAB5IF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB5IF Gene

GenScript: Design optimal peptide antigens:
  • Rab5-interacting protein (CT024_HUMAN)
genes like me logo Genes that share domains with RAB5IF: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RAB5IF Gene

Function for RAB5IF Gene

Molecular function for RAB5IF Gene

UniProtKB/Swiss-Prot Function:
Acts as an assembly factor for mitochondrial respiratory complexes.

Phenotypes From GWAS Catalog for RAB5IF Gene

Gene Ontology (GO) - Molecular Function for RAB5IF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 31536960
genes like me logo Genes that share ontologies with RAB5IF: view
genes like me logo Genes that share phenotypes with RAB5IF: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB5IF Gene

Localization for RAB5IF Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB5IF Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB5IF gene
Compartment Confidence
mitochondrion 4
plasma membrane 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB5IF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005746 mitochondrial respiratory chain IMP 31536960
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RAB5IF: view

Pathways & Interactions for RAB5IF Gene

PathCards logo

SuperPathways for RAB5IF Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAB5IF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097250 mitochondrial respiratory chain supercomplex assembly IMP 31536960
genes like me logo Genes that share ontologies with RAB5IF: view

No data available for Pathways by source and SIGNOR curated interactions for RAB5IF Gene

Drugs & Compounds for RAB5IF Gene

No Compound Related Data Available

Transcripts for RAB5IF Gene

mRNA/cDNA for RAB5IF Gene

6 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for RAB5IF Gene

No ASD Table

Relevant External Links for RAB5IF Gene

GeneLoc Exon Structure for
RAB5IF

Expression for RAB5IF Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB5IF

mRNA Expression by UniProt/SwissProt for RAB5IF Gene:

Q9BUV8-RCAF1_HUMAN
Tissue specificity: Expressed in embryonic stem cells and differentiated neuronal cells.

Evidence on tissue expression from TISSUES for RAB5IF Gene

  • Lung(4.6)
  • Skin(4.5)
  • Adrenal gland(4.3)
  • Nervous system(3.4)
  • Intestine(2.6)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB5IF Gene

Orthologs for RAB5IF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB5IF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TGIF2 30
  • 99.51 (n)
Dog
(Canis familiaris)
Mammalia C24H20orf24 30
  • 86.82 (n)
Mouse
(Mus musculus)
Mammalia 1110008F13Rik 30
  • 86.3 (n)
Rab5if 17
Rat
(Rattus norvegicus)
Mammalia RGD1307752 30
  • 86.3 (n)
Cow
(Bos Taurus)
Mammalia C13H20orf24 30
  • 85.79 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 36 (a)
OneToMany
Chicken
(Gallus gallus)
Aves C20H20ORF24 30 31
  • 73.13 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 44 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c20orf24 30
  • 67.2 (n)
Str.6359 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7273 30
Zebrafish
(Danio rerio)
Actinopterygii c20orf24 30
  • 65.07 (n)
C23H20orf24 31
  • 42 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG12107 30 31
  • 56.21 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004838 30
  • 51.73 (n)
Worm
(Caenorhabditis elegans)
Secernentea F44E7.9 30 31
  • 49.83 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G29020 30
  • 46.9 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0110600 30
  • 52.08 (n)
Species where no ortholog for RAB5IF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAB5IF Gene

ENSEMBL:
Gene Tree for RAB5IF (if available)
TreeFam:
Gene Tree for RAB5IF (if available)

Paralogs for RAB5IF Gene

Paralogs for RAB5IF Gene

genes like me logo Genes that share paralogs with RAB5IF: view

Variants for RAB5IF Gene

Additional dbSNP identifiers (rs#s) for RAB5IF Gene

Structural Variations from Database of Genomic Variants (DGV) for RAB5IF Gene

Variant ID Type Subtype PubMed ID
nsv1057192 CNV loss 25217958
nsv833967 CNV loss 17160897

Variation tolerance for RAB5IF Gene

Residual Variation Intolerance Score: 55.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB5IF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB5IF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB5IF Gene

Disorders for RAB5IF Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB5IF Gene - From: DISEASES

Disorder Aliases PubMed IDs
colorectal cancer, hereditary nonpolyposis, type 7
  • hnpcc7
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RAB5IF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB5IF Gene

Publications for RAB5IF Gene

  1. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 2 3 4
  2. The GDP/GTP cycle of Rab5 in the regulation of endocytotic membrane traffic. (PMID: 8824393) Vitale G … Zerial M (Cold Spring Harbor symposia on quantitative biology 1995) 2 3 4
  3. Regulation of Mitochondrial Electron Transport Chain Assembly. (PMID: 30292820) Cogliati S … Soriano ME (Journal of molecular biology 2018) 2 3
  4. Rab5 affinity chromatography without nonhydrolyzable GTP analogues. (PMID: 19526728) Hagiwara M … Yamamoto Y (Zeitschrift fur Naturforschung. C, Journal of biosciences 2009) 2 3
  5. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman RT … Brenner SE (Genome biology 2004) 3 4

Products for RAB5IF Gene

Sources for RAB5IF Gene