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 RAB geranylgeranylation and Metabolism of proteins. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB40A Gene
Genomics for RAB40A Gene
Regulatory Elements for RAB40A Gene
Enhancers for RAB40A Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH0XG103464 | 0.9 | Ensembl ENCODE | 10.5 | +54.9 | 54889 | 1.2 | CTCF PKNOX1 ZNF654 REST RAD21 FOXK2 GLIS1 SMC3 ZSCAN29 PRDM10 | TCEAL9 BEX3 RAB40A PIR62779 PIR37216 |
| GH0XG103684 | 1.4 | ENCODE dbSUPER | 6.6 | -167.5 | -167533 | 4.4 | PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF207 ZNF143 | BEX4 RAB40A MORF4L2-AS1 LOC100130176 |
| GH0XG103655 | 1.1 | Ensembl ENCODE | 5.3 | -138.2 | -138197 | 4.2 | TBP FOXA2 BRCA1 RFX5 GATA2 ZNF366 RCOR1 FOS EGR2 CEBPB | BEX4 MORF4L2-AS1 MORF4L2 TCEAL3 ZCCHC18 TCEAL1 TCEAL3-AS1 BHLHB9 PLP1 FAM199X |
| GH0XG103540 | 0.4 | ENCODE | 9.4 | -20.8 | -20824 | 0.2 | JUND FOS | RAB40A TCEAL4 |
| GH0XG103631 | 0.2 | ENCODE | 9.4 | -111.8 | -111818 | 0.4 | RAB40A LOC105373302 LOC100130176 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around RAB40A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the RAB40A gene promoter:
Regulatory Element Products
Genomic Location for RAB40A Gene
- Chromosome:
- X
- Start:
- 103,499,130 bp from pter
- End:
- 103,519,489 bp from pter
- Size:
- 20,360 bases
- Orientation:
- Minus strand
Genomic View for RAB40A Gene
Genes around RAB40A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq22.2 by Ensembl
- Xq22.2 by Entrez Gene
- Xq22.2 by HGNC
RAB40A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
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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Abcam antibodies for RAB40A
- antibodies-online Antibodies for RAB40A: See all 28
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Protein Products
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-
Abcam proteins for RAB40A
No data available for DME Specific Peptides for RAB40A Gene
Domains & Families for RAB40A Gene
Gene Families for RAB40A Gene
Protein Domains for RAB40A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RAB40A Gene
- GenScript: Design optimal peptide antigens:
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:
Animal Model Products
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-
-
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CRISPR Products
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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)
miRNA Products
- Search ViGene Biosciences for RAB40A
Inhibitory RNA 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
Cell Line Products
-
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-
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-
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No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| cytosol | 3 |
| endosome | 3 |
| extracellular | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005768 | endosome | IBA | -- |
| GO:0005886 | plasma membrane | IBA,IEA | -- |
| GO:0008021 | synaptic vesicle | IBA | -- |
| GO:0016020 | membrane | IEA | -- |
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 | vesicle docking involved in exocytosis | IBA | -- |
| GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
| GO:0009306 | protein secretion | IBA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
| 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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OriGene CRISPR knockouts for RAB40A
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Santa Cruz Biotechnology (SCBT) CRISPR for RAB40A
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miRNA Products
- Search ViGene Biosciences for RAB40A
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for RAB40A
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ViGene Biosciences ready-to-package AAV shRNAs for RAB40A gene
Clone Products
-
OriGene ORF clones in human for RAB40A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RAB40A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for RAB40A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RAB40A
-
VectorBuilder Other custom vectors
- 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
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
-
OriGene qPCR primer pairs and template standards for RAB40A
-
OriGene qPCR primer pairs for RAB40A
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 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Rab40b 35 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | RAB40B 35 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | RAB40B 35 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | rab40b 35 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG1900 36 |
|
|
|
| Rab40 35 |
|
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
(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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000261749 | -- | 103,507,010(+) | CCTAT(C/T)GACCC | intron-variant | |
| rs1000473719 | -- | 103,495,781(+) | ATACA(C/T)TCAGG | intron-variant, utr-variant-3-prime | |
| rs1000604147 | -- | 103,504,725(+) | CCATG(C/T)TGGCC | intron-variant, upstream-variant-2KB | |
| rs1000845895 | -- | 103,495,170(+) | TGGCT(A/G)TTGTA | intron-variant, utr-variant-3-prime | |
| rs1000899254 | -- | 103,495,991(+) | GATGA(A/C)TTGCC | intron-variant, utr-variant-3-prime |
Residual Variation Intolerance Score:
90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.53;
77.75% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links 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
Relevant External Links for RAB40A
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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 Cells 2006) 3 4 64
- The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- Evolution of the Rab family of small GTP-binding proteins. (PMID: 11697911) Pereira-Leal J.B. … Seabra M.C. (J. Mol. Biol. 2001) 2 3 64
- Rab40C is a novel Varp-binding protein that promotes proteasomal degradation of Varp in melanocytes. (PMID: 25661869) Yatsu A. … Fukuda M. (Biol Open 2015) 3 64
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- VectorBuilder custom plasmid, inducible vectors for RAB40A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RAB40A
- VectorBuilder Other custom vectors
- 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
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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
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