Aliases for RAB40A Gene
Aliases for RAB40A Gene
External Ids for RAB40A Gene
- HGNC: 18283
- Entrez Gene: 142684
- Ensembl: ENSG00000172476
- UniProtKB: Q8WXH6
Previous GeneCards Identifiers for RAB40A Gene
- GC0XM098056
- GC0XM099663
- GC0XM100787
- GC0XM101526
- GC0XM102560
- GC0XM102641
- GC0XM102754
- GC0XM092410
Summaries for RAB40A Gene
-
This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]
GeneCards Summary for RAB40A Gene
RAB40A (RAB40A, Member RAS Oncogene Family) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and RAB geranylgeranylation. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB40AL.
UniProtKB/Swiss-Prot for RAB40A Gene
-
May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Additional gene information for RAB40A Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB40A Gene
Genomics for RAB40A Gene
GeneHancer (GH) Regulatory Elements for RAB40A 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0XI103507 | Promoter | 0.5 | EPDnew | 550.4 | +11.5 | 11529 | 0.1 | RAB40A ENSG00000234405 LL0XNC01-250H12.3 | ||
GH0XI103684 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 6.7 | -167.5 | -167533 | 4.4 | PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B YY1 POLR2B | MORF4L2 MORF4L2-AS1 BEX4 RAB40A LOC100130176 | |
GH0XI103464 | Enhancer | 0.9 | Ensembl ENCODE | 10.5 | +54.9 | 54888 | 1.2 | CTCF PKNOX1 ZNF654 REST RAD21 FOXK2 ARID2 GLIS1 ZNF143 SMC3 | TCEAL9 BEX3 RAB40A PIR62779 PIR37216 LL0XNC01-250H12.3 | |
GH0XI103655 | Enhancer | 1 | Ensembl ENCODE | 5.3 | -138.2 | -138197 | 4.2 | NCOA3 SOX13 FOXA2 JUN MAX BRCA1 RFX5 ZFHX2 CTBP1 GATA3 | MORF4L2-AS1 MORF4L2 TCEAL3 TCEAL1 TCEAL3-AS1 PLP1 BEX4 BEX2 RAB40A LOC100130176 | |
GH0XI103540 | Enhancer | 0.4 | ENCODE | 9.4 | -20.8 | -20824 | 0.2 | JUND FOS | RAB40A TCEAL4 LOC105373300 |
- Top Transcription factor binding sites by QIAGEN in the RAB40A gene promoter:
Regulatory Element Products
Genomic Locations for RAB40A Gene
- chrX:103,499,130-103,519,489
- (GRCh38/hg38)
- Size:
- 20,360 bases
- Orientation:
- Minus strand
- chrX:102,754,678-102,774,417
- (GRCh37/hg19)
Genomic View for RAB40A Gene
- Cytogenetic band:
-
- Xq22.2 by Ensembl
- Xq22.2 by Entrez Gene
- Xq22.2 by HGNC


RefSeq DNA sequence for RAB40A Gene
Proteins for RAB40A Gene
-
Protein details for RAB40A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WXH6-RB40A_HUMAN
- Recommended name:
- Ras-related protein Rab-40A
- Protein Accession:
- Q8WXH6
- O00407
- Q17RQ5
- Q6DK06
- Q8TF06
Protein attributes for RAB40A Gene
- Size:
- 277 amino acids
- Molecular mass:
- 31076 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for RAB40A Gene
Other Protein References for RAB40A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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No data available for DME Specific Peptides for RAB40A Gene
Domains & Families for RAB40A Gene
Gene Families for RAB40A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
Protein Domains for RAB40A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RAB40A Gene
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Graphical View of Domain Structure for InterPro Entry
Q8WXH6UniProtKB/Swiss-Prot:
RB40A_HUMAN :- The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
- Belongs to the small GTPase superfamily. Rab family.
- Domain:
-
- The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
- Family:
-
- Belongs to the small GTPase superfamily. Rab family.
Function for RAB40A Gene
Molecular function for RAB40A Gene
- UniProtKB/Swiss-Prot Function:
- May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003924 | GTPase activity | IEA | -- |
GO:0005525 | GTP binding | IEA | -- |
Phenotypes for RAB40A Gene
- GenomeRNAi human phenotypes for RAB40A:
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miRNA for RAB40A Gene
- miRTarBase miRNAs that target RAB40A
-
- hsa-mir-335-5p (MIRT017532)
- hsa-mir-5047 (MIRT717340)
- hsa-mir-1301-3p (MIRT717341)
- hsa-mir-519e-5p (MIRT717342)
- hsa-mir-515-5p (MIRT717343)
- hsa-mir-4660 (MIRT717344)
- hsa-mir-6770-5p (MIRT717345)
- hsa-mir-1253 (MIRT717346)
- hsa-mir-6761-5p (MIRT717347)
- hsa-mir-4329 (MIRT717348)
- hsa-mir-4251 (MIRT717349)
- hsa-mir-3925-3p (MIRT717350)
- hsa-mir-766-3p (MIRT717351)
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RAB40A gene related products
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB40A Gene
Localization for RAB40A Gene
Subcellular locations from UniProtKB/Swiss-Prot for RAB40A Gene
- Cell membrane; Lipid-anchor; Cytoplasmic side.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005768 | endosome | IBA | -- |
GO:0005886 | plasma membrane | IBA | -- |
GO:0008021 | synaptic vesicle | IBA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030667 | secretory granule membrane | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB40A Gene
Pathways & Interactions for RAB40A Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | RAB geranylgeranylation |
Pathways by source for RAB40A Gene
3 Reactome pathways for RAB40A Gene
UniProtKB/Swiss-Prot Q8WXH6-RB40A_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for RAB40A Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006904 | NOT vesicle docking involved in exocytosis | IBA | -- |
GO:0009306 | NOT protein secretion | IBA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0017157 | NOT regulation of exocytosis | IBA | -- |
GO:0035556 | intracellular signal transduction | IEA | -- |
No data available for SIGNOR curated interactions for RAB40A Gene
Transcripts for RAB40A Gene
mRNA/cDNA for RAB40A Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (15) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RAB40A Gene
CRISPR Products
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-
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RAB40A gene related products
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- Applied Biological Materials Clones for RAB40A
-
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Expression for RAB40A Gene
NURSA nuclear receptor signaling pathways regulating expression of RAB40A Gene:
RAB40ASOURCE GeneReport for Unigene cluster for RAB40A Gene:
Hs.706904Evidence on tissue expression from TISSUES for RAB40A Gene
- Nervous system(4.2)
- Lung(4)
Primer Products
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No data available for 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB40A Gene
Orthologs for RAB40A Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | RAB40A 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Rab40b 34 |
|
OneToMany | |
cow (Bos Taurus) |
Mammalia | RAB40B 34 |
|
OneToMany | |
dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
chicken (Gallus gallus) |
Aves | RAB40B 34 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
zebrafish (Danio rerio) |
Actinopterygii | rab40b 34 |
|
OneToMany | |
fruit fly (Drosophila melanogaster) |
Insecta | CG1900 35 |
|
|
|
Rab40 34 |
|
OneToMany |
- Species where no ortholog for RAB40A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for RAB40A Gene
Paralogs for RAB40A Gene
(55) SIMAP similar genes for RAB40A Gene using alignment to 1 proteins:
- RAB40AL
- RAB40B
- RAB40C
- RAB13
- RAB10
- RAB8A
- DKFZp686J07132
- RAB8B
- RAB15
- RAB43
- RAB19
- RAB11B
- RAB11A
- RAB30
- RAB6A
- RAB4B
- RAB3C
- RAB37
- RAB35
- RAB1B
- RAB4A
- DKFZp313C1541
- RAB3B
- RAB3A
- RAB39B
- RAB2B
- RAB2A
- RAB1A
- RAB18
- RAB14
- RAB1C
- RAB6B
- RAB12
- RAB39A
- RAB3D
- RAB25
- RAB26
- RAB23
- RAB5A
- RAB7B
- RAB33B
- RAB31
- RAB22A
- IFT27
- RANP1
- RABL2B
- RAB9A
- RAB5C
- RAB5B
- RAB27A
- RAB9B
- RAB27B
- RALB
- RAB7A
- RAB33A
Variants for RAB40A Gene
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000261749 | -- | 103,507,010(-) | T/C | genic_upstream_transcript_variant, intron_variant | |
rs1000473719 | -- | 103,495,781(-) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs1000604147 | -- | 103,504,725(-) | T/C | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
rs1000845895 | -- | 103,495,170(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs1000899254 | -- | 103,495,991(-) | A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant |
Additional Variant Information for RAB40A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RAB40A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RAB40A Gene
Disorders for RAB40A Gene
Additional Disease Information for RAB40A
No disorders were found for RAB40A Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB40A Gene
Publications for RAB40A Gene
- Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. (PMID: 16923123) Itoh T … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2006) 3 4 58
- The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Evolution of the Rab family of small GTP-binding proteins. (PMID: 11697911) Pereira-Leal JB … Seabra MC (Journal of molecular biology 2001) 2 3 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 29 available RAB40A Antibodies ranked by validation data
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Sources for RAB40A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
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