This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively splic... See more...

Aliases for RAB34 Gene

Aliases for RAB34 Gene

  • RAB34, Member RAS Oncogene Family 2 3 5
  • RAB39 2 3 4
  • NARR 2 3 4
  • RAH 2 3 4
  • Nine Amino-Acid Residue-Repeats 3 4
  • Ras-Related Protein Rab-34 3 4
  • Ras-Related Protein Rab-39 3 4
  • Ras-Related Protein Rah 3 4
  • Ras-Related Protein Rab-34, Isoform NARR 4
  • Nine-Amino Acid Residue-Repeats 2
  • RAB34 5

External Ids for RAB34 Gene

Previous GeneCards Identifiers for RAB34 Gene

  • GC17M026887
  • GC17M028941
  • GC17M027186
  • GC17M024065
  • GC17M027041
  • GC17M023250

Summaries for RAB34 Gene

Entrez Gene Summary for RAB34 Gene

  • This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]

GeneCards Summary for RAB34 Gene

RAB34 (RAB34, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB34 include N Syndrome. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTP binding and guanyl nucleotide binding. An important paralog of this gene is RAB36.

UniProtKB/Swiss-Prot Summary for RAB34 Gene

  • Transport protein involved in the redistribution of lysosomes to the peri-Golgi region (PubMed:27113757). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays a role in the fusion of phagosomes with lysosomes (PubMed:21255211). Acts also as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity).

Gene Wiki entry for RAB34 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB34 Gene

Genomics for RAB34 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB34 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB34 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB34

Top Transcription factor binding sites by QIAGEN in the RAB34 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Tal-1beta

Genomic Locations for RAB34 Gene

Latest Assembly
chr17:28,714,281-28,718,440
(GRCh38/hg38)
Size:
4,160 bases
Orientation:
Minus strand

Previous Assembly
chr17:27,041,299-27,045,286
(GRCh37/hg19 by Entrez Gene)
Size:
3,988 bases
Orientation:
Minus strand

chr17:27,041,299-27,045,447
(GRCh37/hg19 by Ensembl)
Size:
4,149 bases
Orientation:
Minus strand

Genomic View for RAB34 Gene

Genes around RAB34 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB34 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB34 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB34 Gene

Proteins for RAB34 Gene

  • Protein details for RAB34 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DI83-NARR_HUMAN
    Recommended name:
    Ras-related protein Rab-34, isoform NARR
    Protein Accession:
    P0DI83

    Protein attributes for RAB34 Gene

    Size:
    198 amino acids
    Molecular mass:
    21118 Da
    Quaternary structure:
    • May interact with EIF5A and ERF1.

    Alternative splice isoforms for RAB34 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for RAB34 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZG1-RAB34_HUMAN
    Recommended name:
    Ras-related protein Rab-34
    Protein Accession:
    Q9BZG1
    Secondary Accessions:
    • B4E3A0
    • E9PEJ9
    • Q5BJE6
    • Q8NCJ8
    • Q96AR4

    Protein attributes for RAB34 Gene

    Size:
    259 amino acids
    Molecular mass:
    29044 Da
    Quaternary structure:
    • Interacts with RILP.

    Alternative splice isoforms for RAB34 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB34 Gene

Post-translational modifications for RAB34 Gene

Antibodies for research

  • Abcam antibodies for RAB34

No data available for DME Specific Peptides for RAB34 Gene

Domains & Families for RAB34 Gene

Gene Families for RAB34 Gene

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

Protein Domains for RAB34 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB34 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61141, highly similar to Ras-related protein Rab-34 (B4DNC0_HUMAN)
  • RAB34 protein (Q6NXT3_HUMAN)
  • Ras-related protein Rah (RAB34_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZG1

UniProtKB/Swiss-Prot:

RAB34_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 RAB34: view

Function for RAB34 Gene

Molecular function for RAB34 Gene

UniProtKB/Swiss-Prot Function:
Transport protein involved in the redistribution of lysosomes to the peri-Golgi region (PubMed:27113757). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays a role in the fusion of phagosomes with lysosomes (PubMed:21255211). Acts also as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity).

Phenotypes From GWAS Catalog for RAB34 Gene

Gene Ontology (GO) - Molecular Function for RAB34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 16138900
GO:0005525 GTP binding IEA --
GO:0030742 GTP-dependent protein binding IPI 16138900
genes like me logo Genes that share ontologies with RAB34: view
genes like me logo Genes that share phenotypes with RAB34: view

Animal Models for RAB34 Gene

MGI Knock Outs for RAB34:
  • Rab34 Rab34<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for RAB34

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB34

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB34 Gene

Localization for RAB34 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB34 Gene

Nucleus. Nucleus, nucleolus. Note=Colocalizes with rDNA clusters.
Cytoplasm. Golgi apparatus. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane. Lipid-anchor. Cytoplasmic side. Cell projection, cilium. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {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 RAB34 gene
Compartment Confidence
golgi apparatus 5
extracellular 4
nucleus 4
cytosol 3
plasma membrane 2
cytoskeleton 2
endosome 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RAB34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA,IDA 16138900
GO:0005795 Golgi stack IDA 17881736
genes like me logo Genes that share ontologies with RAB34: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB34 Gene

Pathways & Interactions for RAB34 Gene

PathCards logo

SuperPathways for RAB34 Gene

genes like me logo Genes that share pathways with RAB34: view

Pathways by source for RAB34 Gene

1 Qiagen pathway for RAB34 Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA 21873635
GO:0015031 protein transport IEA --
GO:0019882 antigen processing and presentation IMP 19717423
GO:0030030 cell projection organization IEA --
GO:0032418 lysosome localization IDA 17881736
genes like me logo Genes that share ontologies with RAB34: view

No data available for SIGNOR curated interactions for RAB34 Gene

Drugs & Compounds for RAB34 Gene

No Compound Related Data Available

Transcripts for RAB34 Gene

mRNA/cDNA for RAB34 Gene

9 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
26 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 RAB34

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for RAB34 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h · 2i · 2j · 2k · 2l ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ·
SP1: - - - - - - - - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - -
SP11: - - - - -
SP12: - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - -
SP15: - -
SP16: - - - -
SP17: - - -
SP18: - - - - - - - - -
SP19:
SP20:
SP21: - - - - - - - -

ExUns: 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c · 12d
SP1:
SP2:
SP3: - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for RAB34 Gene

GeneLoc Exon Structure for
RAB34

Expression for RAB34 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB34 Gene

Protein differential expression in normal tissues from HIPED for RAB34 Gene

This gene is overexpressed in Breast (17.1) and Uterus (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB34 Gene



Protein tissue co-expression partners for RAB34 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB34

SOURCE GeneReport for Unigene cluster for RAB34 Gene:

Hs.301853

Evidence on tissue expression from TISSUES for RAB34 Gene

  • Nervous system(4.8)
  • Pancreas(4.4)
  • Muscle(4.3)
  • Lung(3.4)
  • Kidney(2.7)
  • Skin(2.6)
  • Liver(2.3)
  • Lymph node(2.1)
  • Spleen(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with RAB34: view

Primer products for research

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 RAB34 Gene

Orthologs for RAB34 Gene

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

Orthologs for RAB34 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB34 29 30
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB34 29 30
  • 92.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB34 29 30
  • 91.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab34 29
  • 89.32 (n)
Mouse
(Mus musculus)
Mammalia Rab34 29 16 30
  • 89.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB34 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB34 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB34 30
  • 82 (a)
OneToOne
LOC100858849 29
  • 77.17 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab34 29
  • 74.94 (n)
Str.2247 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.3365 29
Zebrafish
(Danio rerio)
Actinopterygii rab34a 29 30
  • 71.71 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG7980 31
  • 52 (a)
RabX5 30
  • 38 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.12 30
  • 31 (a)
ManyToMany
C56E6.2 30
  • 22 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT6 30
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.67 29
Species where no ortholog for RAB34 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)
  • Lizard (Anolis carolinensis)
  • 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 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 RAB34 Gene

ENSEMBL:
Gene Tree for RAB34 (if available)
TreeFam:
Gene Tree for RAB34 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB34: view image
Alliance of Genome Resources:
Additional Orthologs for RAB34

Paralogs for RAB34 Gene

(79) SIMAP similar genes for RAB34 Gene using alignment to 13 proteins:

  • NARR_HUMAN
  • RAB34_HUMAN
  • A8MYQ9_HUMAN
  • C9JBG0_HUMAN
  • C9JY26_HUMAN
  • E7ES60_HUMAN
  • H7C0Y7_HUMAN
  • J3KQW8_HUMAN
  • J3QLC6_HUMAN
  • K7EIF2_HUMAN
  • K7EJW7_HUMAN
  • Q6NXT3_HUMAN
  • V9GY61_HUMAN
genes like me logo Genes that share paralogs with RAB34: view

Variants for RAB34 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB34 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12125 -- p.Val197Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB34 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 RAB34 Gene

Variant ID Type Subtype PubMed ID
nsv1064087 CNV gain 25217958
nsv1064087 CNV gain 25217958

Variation tolerance for RAB34 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB34 Gene

Human Gene Mutation Database (HGMD)
RAB34
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB34
Leiden Open Variation Database (LOVD)
RAB34

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB34 Gene

Disorders for RAB34 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB34 Gene - From: COP

Disorder Aliases PubMed IDs
n syndrome
  • nsx
- elite association - COSMIC cancer census association via MalaCards
Search RAB34 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB34

genes like me logo Genes that share disorders with RAB34: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB34 Gene

Publications for RAB34 Gene

  1. Identification and characterization of a novel ubiquitous nucleolar protein 'NARR' encoded by a gene overlapping the rab34 oncogene. (PMID: 21586586) Zougman A … Wisniewski JR (Nucleic acids research 2011) 2 3 4
  2. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RAB34 Gene