Aliases for RAB9A Gene

Aliases for RAB9A Gene

  • RAB9A, Member RAS Oncogene Family 2 3 5
  • RAB9, Member RAS Oncogene Family 2 3
  • Ras-Related Protein Rab-9A 3 4
  • RAB9 3 4
  • RAB9A 5

External Ids for RAB9A Gene

Previous HGNC Symbols for RAB9A Gene

  • RAB9

Previous GeneCards Identifiers for RAB9A Gene

  • GC0XP012946
  • GC0XP012527
  • GC0XP013068
  • GC0XP013466
  • GC0XP013617
  • GC0XP011465

Summaries for RAB9A Gene

GeneCards Summary for RAB9A Gene

RAB9A (RAB9A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB9A include Simpson-Golabi-Behmel Syndrome, Type 2. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB9B.

UniProtKB/Swiss-Prot Summary for RAB9A Gene

  • Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes.

Gene Wiki entry for RAB9A Gene

Additional gene information for RAB9A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB9A Gene

Genomics for RAB9A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB9A 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
GH0XJ013687 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 605.4 +2.4 2399 7.1 ATF7 PRDM10 ZNF629 IKZF1 CTCF ZNF692 BACH1 TARDBP ZHX2 JUND OFD1 RAB9A TCEANC TRAPPC2 ATXN3L lnc-GPM6B-3
GH0XJ013646 Enhancer 1.4 FANTOM5 Ensembl ENCODE 14.9 -40.7 -40683 5.3 ZNF221 GATAD2A CTCF PRDM10 ZNF629 LEF1 IKZF1 ZNF692 JUND PRDM1 GEMIN8 TCEANC RAB9A lnc-TRAPPC2-1 piR-32214-704 EGFL6
GH0XJ013715 Enhancer 0.9 Ensembl ENCODE 13.1 +31.7 31695 10.4 ZNF629 ZNF692 FOXA1 PRDM1 EGR1 ZXDB TSHZ1 SCRT1 ZNF189 DPF2 TRAPPC2 RAB9A OFD1 lnc-GPM6B-3 piR-48222-376 piR-55194-427
GH0XJ013667 Enhancer 1.2 FANTOM5 ENCODE 4.1 -20.0 -19960 2.9 SP1 CREB1 PRDM10 ZNF629 IKZF1 ZNF692 ZHX2 JUND FOXA1 STAT3 lnc-RAB9A-2 TCEANC RAB9A LOC107985656 lnc-RAB9A-3 LOC107985657 piR-61101-703
GH0XJ013658 Enhancer 1.1 FANTOM5 Ensembl ENCODE 3.7 -30.2 -30220 2.6 GATAD2A CTCF REST RAD21 TRIM22 CEBPA CEBPB ZNF10 CHD2 RCOR1 TCEANC RAB9A LOC107985657 LOC107985656
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB9A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB9A

Top Transcription factor binding sites by QIAGEN in the RAB9A gene promoter:
  • AML1a
  • AP-1
  • AREB6
  • Bach1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • LCR-F1
  • Sp1

Genomic Locations for RAB9A Gene

Genomic Locations for RAB9A Gene
chrX:13,689,121-13,710,504
(GRCh38/hg38)
Size:
21,384 bases
Orientation:
Plus strand
chrX:13,707,240-13,728,625
(GRCh37/hg19)
Size:
21,386 bases
Orientation:
Plus strand

Genomic View for RAB9A Gene

Genes around RAB9A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB9A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB9A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB9A Gene

Proteins for RAB9A Gene

  • Protein details for RAB9A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51151-RAB9A_HUMAN
    Recommended name:
    Ras-related protein Rab-9A
    Protein Accession:
    P51151
    Secondary Accessions:
    • A8K390
    • Q6ICN1

    Protein attributes for RAB9A Gene

    Size:
    201 amino acids
    Molecular mass:
    22838 Da
    Quaternary structure:
    • Interacts (preferentially in its GTP-bound form) with GCC2 (via its GRIP domain) (PubMed:18243103, PubMed:16885419). Interacts (GTP-bound form) with SGSM1; the GDP-bound form has much lower affinity for SGSM1 (PubMed:22637480). Interacts with SGSM2 (PubMed:21808068). The GTP-bound form but not the GDP-bound form interacts with HPS4 and BLOC-3 complex (heterodimer of HPS1 and HPS4) but does not interact with HPS1 alone (PubMed:20048159).

    Three dimensional structures from OCA and Proteopedia for RAB9A Gene

neXtProt entry for RAB9A Gene

Post-translational modifications for RAB9A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB9A Gene

No data available for DME Specific Peptides for RAB9A Gene

Domains & Families for RAB9A Gene

Gene Families for RAB9A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB9A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
ProtoNet:

Suggested Antigen Peptide Sequences for RAB9A Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-9A (RAB9A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51151

UniProtKB/Swiss-Prot:

RAB9A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB9A: view

Function for RAB9A Gene

Molecular function for RAB9A Gene

UniProtKB/Swiss-Prot Function:
Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes.

Gene Ontology (GO) - Molecular Function for RAB9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IDA 15263003
GO:0005515 protein binding IPI 15471887
GO:0005525 GTP binding IDA 15263003
GO:0019003 GDP binding IDA 15263003
genes like me logo Genes that share ontologies with RAB9A: view
genes like me logo Genes that share phenotypes with RAB9A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB9A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB9A Gene

Localization for RAB9A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB9A Gene

Cell membrane. Lipid-anchor. Cytoplasmic side. Endoplasmic reticulum membrane. Golgi apparatus membrane. Late endosome. Cytoplasmic vesicle, phagosome membrane. Lipid-anchor. Cytoplasmic side. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle membrane. Melanosome. Note=Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000269 PubMed:16176980, ECO:0000269 PubMed:21255211}.

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 RAB9A gene
Compartment Confidence
endosome 5
cytosol 5
lysosome 5
plasma membrane 4
extracellular 4
endoplasmic reticulum 4
golgi apparatus 4
nucleus 3
mitochondrion 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005764 lysosome IDA 15078902
GO:0005768 endosome IEA --
GO:0005770 late endosome IBA,IDA 15078902
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with RAB9A: view

Pathways & Interactions for RAB9A Gene

PathCards logo

SuperPathways for RAB9A Gene

SuperPathway Contained pathways
1 Vesicle-mediated transport
2 Metabolism of proteins
3 Delta508-CFTR traffic / ER-to-Golgi in CF
.33
.32
4 Cytoskeletal Signaling
5 Measles
.35
genes like me logo Genes that share pathways with RAB9A: view

Pathways by source for RAB9A Gene

4 GeneGo (Thomson Reuters) pathways for RAB9A Gene
  • Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
1 Qiagen pathway for RAB9A Gene
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for RAB9A Gene

SIGNOR curated interactions for RAB9A Gene

Activates:

Gene Ontology (GO) - Biological Process for RAB9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0015031 protein transport IEA --
GO:0032482 Rab protein signal transduction IBA --
GO:0032880 regulation of protein localization IMP 18787122
GO:0042147 retrograde transport, endosome to Golgi IBA 21873635
genes like me logo Genes that share ontologies with RAB9A: view

Drugs & Compounds for RAB9A Gene

(3) Drugs for RAB9A Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0

(2) Additional Compounds for RAB9A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB9A: view

Transcripts for RAB9A Gene

mRNA/cDNA for RAB9A Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB9A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB9A Gene

No ASD Table

Relevant External Links for RAB9A Gene

GeneLoc Exon Structure for
RAB9A

Expression for RAB9A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB9A Gene

Protein differential expression in normal tissues from HIPED for RAB9A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.4) and Bone (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB9A Gene



Protein tissue co-expression partners for RAB9A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB9A

SOURCE GeneReport for Unigene cluster for RAB9A Gene:

Hs.495704

Evidence on tissue expression from TISSUES for RAB9A Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Muscle(4.3)
  • Skin(2.5)
  • Kidney(2.4)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with RAB9A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB9A Gene

Orthologs for RAB9A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB9A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB9A 30 31
  • 100 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB9A 31
  • 98 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia RAB9A 30 31
  • 93.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab9a 30
  • 91.38 (n)
Cow
(Bos Taurus)
Mammalia RAB9A 30 31
  • 91.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab9 30 17 31
  • 90.38 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RAB9A 30 31
  • 83.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB9A 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab9a 30
  • 78.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17219 30
Zebrafish
(Danio rerio)
Actinopterygii rab9a 30 31
  • 72.8 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9994 32
  • 55 (a)
Rab7 32
  • 55 (a)
Rab9 31
  • 40 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT7 31
  • 48 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Species where no ortholog for RAB9A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RAB9A Gene

ENSEMBL:
Gene Tree for RAB9A (if available)
TreeFam:
Gene Tree for RAB9A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB9A: view image

Paralogs for RAB9A Gene

genes like me logo Genes that share paralogs with RAB9A: view

Variants for RAB9A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB9A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
708705 Likely Benign: not provided 13,709,181(+) C/T SYNONYMOUS_VARIANT
782175 Benign: not provided 13,709,340(+) A/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RAB9A Gene

Structural Variations from Database of Genomic Variants (DGV) for RAB9A Gene

Variant ID Type Subtype PubMed ID
dgv2224e212 CNV loss 25503493
dgv2225e212 CNV gain 25503493
esv3576776 CNV gain 25503493
nsv528634 CNV gain 19592680

Variation tolerance for RAB9A Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB9A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB9A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB9A Gene

Disorders for RAB9A Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB9A Gene - From: DISEASES

Disorder Aliases PubMed IDs
simpson-golabi-behmel syndrome, type 2
  • sgbs2
- elite association - COSMIC cancer census association via MalaCards
Search RAB9A in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with RAB9A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB9A Gene

Publications for RAB9A Gene

  1. Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. (PMID: 9126495) Davies JP … Ioannou YA (Genomics 1997) 2 3 4 23
  2. RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. (PMID: 22637480) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2012) 3 4
  3. RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. (PMID: 21808068) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2011) 3 4
  4. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4
  5. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. (PMID: 20048159) Kloer DP … Bonifacino JS (The Journal of biological chemistry 2010) 3 4

Products for RAB9A Gene

  • Signalway Proteins for RAB9A

Sources for RAB9A Gene