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. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB33A.
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 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 | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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:
- 103,499,136 bp from pter
- End:
- 103,519,489 bp from pter
- Size:
- 20,354 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
- Xq22.1 by Entrez Gene
- Xq22.1 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
-
Custom Antibody ServicesOriGene Antibodies for RAB40A
- Novus Biologicals Antibodies for RAB40A
- Abcam antibodies for RAB40A (Q8WXH6)
- antibodies-online Antibodies for RAB40A: See all 28
- GeneTex RAB40A antibody for RAB40A
-
Santa Cruz Biotechnology (SCBT) Antibodies for RAB40A
Protein Products
-
OriGene Purified Proteins for RAB40A
- Search Origene for MassSpec and Protein Over-expression Lysates for RAB40A
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- antibodies-online Proteins for RAB40A: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for RAB40A
Assay Products
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.
- Contains 1 SOCS box domain.
- 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.
Phenotypes for RAB40A Gene
- GenomeRNAi human phenotypes for RAB40A:
Animal Model Products
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-
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-
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CRISPR Products
-
OriGene CRISPR knockouts 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)
miRNA Products
- Search ViGene Biosciences for RAB40A
Inhibitory RNA Products
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-
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Clone Products
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Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for RAB40A gene
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 |
| extracellular | 1 |
| peroxisome | 1 |
No data available for Gene Ontology (GO) - Cellular Components for RAB40A Gene
Pathways & Interactions for RAB40A Gene
More details on SuperPathways for RAB40A
No Data Available
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:0006913 | nucleocytoplasmic transport | IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for RAB40A Gene
Transcripts for RAB40A Gene
mRNA/cDNA for RAB40A Gene
- (7) 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
-
OriGene CRISPR knockouts for RAB40A
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAB40A
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miRNA Products
- Search ViGene Biosciences for RAB40A
Inhibitory RNA Products
- Origene siRNA, shRNA, 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 clones in human for RAB40A
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Flow Cytometry Products
Expression for RAB40A Gene
SOURCE GeneReport for Unigene cluster for RAB40A Gene Hs.706904
Primer Products
-
OriGene qPCR primer pairs for RAB40A
-
OriGene qPCR primer pairs and template standards 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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 35 |
|
||
| RAB40A 36 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | RAB40B 36 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | -- 36 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Rab40b 36 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | RAB40B 36 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 36 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | rab40b 36 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG1900 37 |
|
|
|
| Rab40 36 |
|
OneToMany |
- Species with no ortholog for RAB40A:
-
- 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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_034435 | - | ||||
| rs748029748 | -- | 103,521,454(+) | AAAGA(C/G)CTAAA | upstream-variant-2KB | |
| rs749492910 | -- | 103,520,427(+) | ATGTG(A/G)TGTGA | upstream-variant-2KB | |
| rs6652889 | -- | 103,520,705(+) | ACCCT(C/G)TCACC | upstream-variant-2KB | |
| rs752246614 | -- | 103,521,147(+) | TTCCT(C/G)CATAG | upstream-variant-2KB |
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
- HapMap Linkage Disequilibrium report
- 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 67
- 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
- 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
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
- Genome-wide shRNA screening identifies host factors involved in early endocytic events for HIV-1-induced CD4 down-regulation. (PMID: 25496667) Landi A. … Verhasselt B. (Retrovirology 2014) 3
Products for RAB40A Gene
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- antibodies-online Antibodies for RAB40A: See all 28
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- GeneTex RAB40A antibody for RAB40A
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- ViGene Biosciences adenoviral particle packaged cDNA for RAB40A gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for RAB40A
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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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
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- (103) MaxQB
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- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
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- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
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- (141) NCBI Bookshelf
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- (143) Gene Damage Index
- (144) ViGene Biosciences
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- (146) UDN
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon