The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008] See more...

Aliases for RAB33A Gene

Aliases for RAB33A Gene

  • RAB33A, Member RAS Oncogene Family 2 3 5
  • Small GTP-Binding Protein S10 3 4
  • Ras-Related Protein Rab-33A 3 4
  • RabS10 2 3
  • RAB33A 5
  • RABS10 4

External Ids for RAB33A Gene

Previous GeneCards Identifiers for RAB33A Gene

  • GC0XP123951
  • GC0XP126151
  • GC0XP127250
  • GC0XP128011
  • GC0XP129031
  • GC0XP129133
  • GC0XP129305
  • GC0XP118701
  • GC0XP130171

Summaries for RAB33A Gene

Entrez Gene Summary for RAB33A Gene

  • The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAB33A Gene

RAB33A (RAB33A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB33A include Combined Oxidative Phosphorylation Deficiency 6 and Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB33B.

Gene Wiki entry for RAB33A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB33A Gene

Genomics for RAB33A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB33A 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
GH0XJ130170 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250.2 +62.0 62025 4.5 SP1 MYC NCOR1 IKZF1 JUND ZNF592 CEBPB SMAD5 SIN3A BHLHE40 HSALNG0140110 HSALNG0140112 RAB33A ZNF280C RBMX2 BCORL1 UTP14A ELF4 AIFM1 RF00017-8087
GH0XJ130108 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -0.6 -565 4.9 IKZF1 ZNF580 ZNF592 ZNF223 ZIC2 NONO SMAD5 SIN3A KLF9 SIN3B ELF4 RAB33A ZNF280C BCORL1 RBMX2 AIFM1 HSALNG0140105 RF00017-8086 RF00017-8081
GH0XJ130164 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.2 +55.0 54968 3.6 SP1 MYC ZNF207 ZNF600 NCOR1 IKZF1 ZNF580 POLR2A JUND NFIC AIFM1 ENSG00000286650 RAB33A BCORL1 UTP14A OCRL RBMX2 ELF4 ZNF280C RF00017-8086
GH0XJ130139 Enhancer 0.6 Ensembl 13 +29.3 29268 0.6 IKZF1 NCOR1 NFIC PRDM10 SMARCA4 SPI1 ETV1 SIN3A DPF2 ARID1B RAB33A HSALNG0140108 RF00017-8086 AIFM1 ELF4 RF00017-8081
GH0XJ130054 Enhancer 0.3 Ensembl ENCODE 13.3 -55.0 -55006 2.3 piR-38580-422 RAB33A APLN UTP14A HSALNG0140104 BCORL1 RF00017-8081
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB33A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB33A

Top Transcription factor binding sites by QIAGEN in the RAB33A gene promoter:
  • AhR
  • Arnt
  • ATF-2
  • c-Jun
  • Evi-1
  • Pax-6

Genomic Locations for RAB33A Gene

Latest Assembly
chrX:130,110,633-130,184,873
(GRCh38/hg38)
Size:
74,241 bases
Orientation:
Plus strand

Previous Assembly
chrX:129,305,936-129,318,844
(GRCh37/hg19 by Entrez Gene)
Size:
12,909 bases
Orientation:
Plus strand

chrX:129,305,623-129,318,844
(GRCh37/hg19 by Ensembl)
Size:
13,222 bases
Orientation:
Plus strand

Genomic View for RAB33A Gene

Genes around RAB33A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB33A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB33A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB33A Gene

Proteins for RAB33A Gene

  • Protein details for RAB33A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14088-RB33A_HUMAN
    Recommended name:
    Ras-related protein Rab-33A
    Protein Accession:
    Q14088
    Secondary Accessions:
    • Q5JUZ6
    • Q92465

    Protein attributes for RAB33A Gene

    Size:
    237 amino acids
    Molecular mass:
    26593 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RAB33A Gene

Post-translational modifications for RAB33A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB33A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for RAB33A

No data available for DME Specific Peptides for RAB33A Gene

Domains & Families for RAB33A Gene

Gene Families for RAB33A Gene

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

Protein Domains for RAB33A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB33A Gene

GenScript: Design optimal peptide antigens:
  • Small GTP-binding protein S10 (RB33A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14088

UniProtKB/Swiss-Prot:

RB33A_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 RAB33A: view

Function for RAB33A Gene

Molecular function for RAB33A Gene

GENATLAS Biochemistry:
RAB33A,Ras oncogene superfamily member,expressed in brain

Phenotypes From GWAS Catalog for RAB33A Gene

Gene Ontology (GO) - Molecular Function for RAB33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IEA --
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB33A: view
genes like me logo Genes that share phenotypes with RAB33A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB33A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RAB33A Gene

Localization for RAB33A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB33A Gene

Cell membrane. Lipid-anchor. Cytoplasmic side.

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 RAB33A gene
Compartment Confidence
plasma membrane 4
endosome 4
golgi apparatus 4
cytosol 3
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005768 endosome IBA 21873635
GO:0005794 Golgi apparatus IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB33A: view

Pathways & Interactions for RAB33A Gene

genes like me logo Genes that share pathways with RAB33A: view

Pathways by source for RAB33A Gene

1 Qiagen pathway for RAB33A Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB33A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019882 antigen processing and presentation IMP 19717423
GO:0032482 Rab protein signal transduction IEA --
genes like me logo Genes that share ontologies with RAB33A: view

No data available for SIGNOR curated interactions for RAB33A Gene

Drugs & Compounds for RAB33A Gene

No Compound Related Data Available

Transcripts for RAB33A Gene

mRNA/cDNA for RAB33A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB33A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB33A Gene

No ASD Table

Relevant External Links for RAB33A Gene

GeneLoc Exon Structure for
RAB33A

Expression for RAB33A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB33A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB33A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.9).

Protein differential expression in normal tissues from HIPED for RAB33A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (57.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB33A Gene



Protein tissue co-expression partners for RAB33A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB33A

SOURCE GeneReport for Unigene cluster for RAB33A Gene:

Hs.654356

mRNA Expression by UniProt/SwissProt for RAB33A Gene:

Q14088-RB33A_HUMAN
Tissue specificity: Expressed only in lymphoid cell lines.

Evidence on tissue expression from TISSUES for RAB33A Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with RAB33A: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB33A Gene

Orthologs for RAB33A Gene

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

Orthologs for RAB33A Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia RAB33A 30
  • 99 (a)
OneToOne
LOC784703 29
  • 95.5 (n)
Chimpanzee
(Pan troglodytes)
Mammalia RAB33A 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB33A 29 30
  • 96.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab33a 29
  • 93.11 (n)
Mouse
(Mus musculus)
Mammalia Rab33a 29 16 30
  • 92.26 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB33A 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB33A 29 30
  • 82.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB33A 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab33a 29
  • 65.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab33a 29 30
  • 72.12 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rab9Fb 30
  • 32 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-33 30
  • 36 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 30
  • 36 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8759 30
  • 55 (a)
OneToMany
Species where no ortholog for RAB33A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for RAB33A Gene

ENSEMBL:
Gene Tree for RAB33A (if available)
TreeFam:
Gene Tree for RAB33A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB33A: view image
Alliance of Genome Resources:
Additional Orthologs for RAB33A

Paralogs for RAB33A Gene

genes like me logo Genes that share paralogs with RAB33A: view

Variants for RAB33A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB33A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1001350 Uncertain Significance: Combined oxidative phosphorylation deficiency; Charcot-Marie-Tooth Neuropathy X 130,149,534(+) T/C
NM_004208.4(AIFM1):c.284A>G (p.Tyr95Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002186 Uncertain Significance: Combined oxidative phosphorylation deficiency; Charcot-Marie-Tooth Neuropathy X 130,136,656(+) T/C
NM_004208.4(AIFM1):c.1151A>G (p.Lys384Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
1002843 Uncertain Significance: Combined oxidative phosphorylation deficiency; Charcot-Marie-Tooth Neuropathy X 130,137,173(+) C/A
NM_004208.4(AIFM1):c.980G>T (p.Gly327Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,THREE_PRIME_UTR
1011758 Uncertain Significance: Combined oxidative phosphorylation deficiency; Charcot-Marie-Tooth Neuropathy X 130,147,843(+) G/A
NM_004208.4(AIFM1):c.383C>T (p.Ala128Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1019149 Uncertain Significance: Combined oxidative phosphorylation deficiency; Charcot-Marie-Tooth Neuropathy X 130,129,989(+) C/T
NM_004208.4(AIFM1):c.1751G>A (p.Arg584Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB33A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB33A Gene

Variant ID Type Subtype PubMed ID
nsv528290 CNV gain 19592680

Variation tolerance for RAB33A Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB33A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB33A
Leiden Open Variation Database (LOVD)
RAB33A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB33A Gene

Disorders for RAB33A Gene

MalaCards: The human disease database

(17) MalaCards diseases for RAB33A Gene - From: CVR, COP, and GCD

Additional Disease Information for RAB33A

genes like me logo Genes that share disorders with RAB33A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB33A Gene

Publications for RAB33A Gene

  1. Molecular cloning of a cDNA encoding a novel small GTP-binding protein. (PMID: 7688322) Koda T … Kakinuma M (FEBS letters 1993) 2 3 4
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  3. 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
  4. A novel Rab GTPase, Rab33B, is ubiquitously expressed and localized to the medial Golgi cisternae. (PMID: 9512502) Zheng JY … Kakinuma M (Journal of cell science 1998) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RAB33A Gene

Sources for RAB33A Gene