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Aliases for RABEPK Gene

Aliases for RABEPK Gene

  • Rab9 Effector Protein With Kelch Motifs 2 3 5
  • 40 KDa Rab9 Effector Protein 3 4
  • RAB9P40 3 4
  • P40 3 4
  • Rab9 Effector P40 3
  • BA65N13.1 3

External Ids for RABEPK Gene

Previous GeneCards Identifiers for RABEPK Gene

  • GC09P125043
  • GC09P127002
  • GC09P127962
  • GC09P097575

Summaries for RABEPK Gene

GeneCards Summary for RABEPK Gene

RABEPK (Rab9 Effector Protein With Kelch Motifs) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. An important paralog of this gene is HCFC2.

UniProtKB/Swiss-Prot for RABEPK Gene

  • Rab9 effector required for endosome to trans-Golgi network (TGN) transport.

Gene Wiki entry for RABEPK Gene

Additional gene information for RABEPK Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABEPK Gene

Genomics for RABEPK Gene

GeneHancer (GH) Regulatory Elements for RABEPK Gene

Promoters and enhancers for RABEPK 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
GH09I125198 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 569.6 -0.2 -153 3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B RABEPK LOC105376271 PRPS1P2 SCAI GAPVD1 RPSAP76
GH09I125189 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 19.5 -10.7 -10688 2.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B PPP6C RABEPK PRPS1P2 GAPVD1 RNU6-1020P NDUFB3P2
GH09I125142 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 16.5 -57.3 -57329 2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 ZNF207 ZNF143 FOS SCAI GAPVD1 RABEPK GOLGA1 GC09P125105
GH09I125238 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.2 +40.9 40894 6.6 PKNOX1 CLOCK SMAD1 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 GAPVD1 GC09M125241 HSPA5 ENSG00000239705 GOLGA1 PRPS1P2 RABEPK RPL35 OLFML2A
GH09I125260 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +61.2 61194 2.6 HDGF ARNT ARID4B SIN3A ZBTB7B IRF4 SLC30A9 POLR2B ZNF766 ZNF207 GAPVD1 RABEPK RPSAP76 GC09M125264 ENSG00000239705
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RABEPK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RABEPK gene promoter:

Genomic Locations for RABEPK Gene

Genomic Locations for RABEPK Gene
chr9:125,200,542-125,234,159
(GRCh38/hg38)
Size:
33,618 bases
Orientation:
Plus strand
chr9:127,962,821-127,996,438
(GRCh37/hg19)

Genomic View for RABEPK Gene

Genes around RABEPK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RABEPK Gene

Proteins for RABEPK Gene

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

    Protein Symbol:
    Q7Z6M1-RABEK_HUMAN
    Recommended name:
    Rab9 effector protein with kelch motifs
    Protein Accession:
    Q7Z6M1
    Secondary Accessions:
    • A8K403
    • O00568
    • Q69YR2
    • Q6FHA4
    • Q6IBG7
    • Q6P092
    • Q86Y76
    • Q9BWB1

    Protein attributes for RABEPK Gene

    Size:
    372 amino acids
    Molecular mass:
    40565 Da
    Quaternary structure:
    • Interacts with PIP5K3. Interacts with RAB9 in its GTP-bound conformation.

    Alternative splice isoforms for RABEPK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RABEPK Gene

Post-translational modifications for RABEPK Gene

No data available for DME Specific Peptides for RABEPK Gene

Domains & Families for RABEPK Gene

Gene Families for RABEPK Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RABEPK Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RABEPK: view

No data available for UniProtKB/Swiss-Prot for RABEPK Gene

Function for RABEPK Gene

Molecular function for RABEPK Gene

UniProtKB/Swiss-Prot Function:
Rab9 effector required for endosome to trans-Golgi network (TGN) transport.

Phenotypes From GWAS Catalog for RABEPK Gene

genes like me logo Genes that share phenotypes with RABEPK: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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 RABEPK Gene

Localization for RABEPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABEPK Gene

Cytoplasm. Endosome membrane. Note=Interaction with PIP5K3 and subsequent phosphorylation recruits it to the endosomal membrane.

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 RABEPK gene
Compartment Confidence
cytosol 5
endosome 5
golgi apparatus 4
plasma membrane 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RABEPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome TAS 9230071
GO:0005829 cytosol TAS --
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
GO:0030133 transport vesicle TAS --
genes like me logo Genes that share ontologies with RABEPK: view

Pathways & Interactions for RABEPK Gene

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

Pathways by source for RABEPK Gene

Gene Ontology (GO) - Biological Process for RABEPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS 9230071
GO:0006904 vesicle docking involved in exocytosis TAS 9230071
genes like me logo Genes that share ontologies with RABEPK: view

No data available for SIGNOR curated interactions for RABEPK Gene

Drugs & Compounds for RABEPK Gene

(1) Drugs for RABEPK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RABEPK: view

Transcripts for RABEPK Gene

Unigene Clusters for RABEPK Gene

Rab9 effector protein with kelch motifs:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - - - - -
SP6: - - -
SP7: - -
SP8: -
SP9: - - -
SP10:
SP11: - -

Relevant External Links for RABEPK Gene

GeneLoc Exon Structure for
RABEPK
ECgene alternative splicing isoforms for
RABEPK

Expression for RABEPK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RABEPK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.0), CD4 Tcells (9.0), and Retina (6.1).

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



NURSA nuclear receptor signaling pathways regulating expression of RABEPK Gene:

RABEPK

SOURCE GeneReport for Unigene cluster for RABEPK Gene:

Hs.19012

Evidence on tissue expression from TISSUES for RABEPK Gene

  • Lung(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with RABEPK: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABEPK Gene

Orthologs for RABEPK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RABEPK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RABEPK 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia RABEPK 33 34
  • 88.44 (n)
cow
(Bos Taurus)
Mammalia RABEPK 33 34
  • 87.63 (n)
rat
(Rattus norvegicus)
Mammalia Rabepk 33
  • 82.8 (n)
mouse
(Mus musculus)
Mammalia Rabepk 33 16 34
  • 82.62 (n)
oppossum
(Monodelphis domestica)
Mammalia RABEPK 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABEPK 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves RABEPK 33 34
  • 61.63 (n)
lizard
(Anolis carolinensis)
Reptilia RABEPK 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabepk 33
  • 59.04 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33675 33
zebrafish
(Danio rerio)
Actinopterygii rabepk 33 34
  • 57.55 (n)
Dr.17666 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.373 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 36
rice
(Oryza sativa)
Liliopsida Os01g0300900 33
  • 45.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToOne
Species where no ortholog for RABEPK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RABEPK Gene

ENSEMBL:
Gene Tree for RABEPK (if available)
TreeFam:
Gene Tree for RABEPK (if available)

Paralogs for RABEPK Gene

Paralogs for RABEPK Gene

Pseudogenes.org Pseudogenes for RABEPK Gene

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

Variants for RABEPK Gene

Sequence variations from dbSNP and Humsavar for RABEPK Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000007922 -- 125,226,726(+) T/C intron_variant
rs1000062144 -- 125,229,861(+) C/A intron_variant
rs1000104758 -- 125,199,896(+) C/T upstream_transcript_variant
rs1000157250 -- 125,199,718(+) C/G upstream_transcript_variant
rs1000224835 -- 125,224,216(+) /C intron_variant

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

Variant ID Type Subtype PubMed ID
esv3621741 CNV gain 21293372
nsv479231 CNV novel sequence insertion 20440878
nsv479232 CNV novel sequence insertion 20440878

Variation tolerance for RABEPK Gene

Residual Variation Intolerance Score: 85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.57; 77.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABEPK Gene

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

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

Disorders for RABEPK Gene

Additional Disease Information for RABEPK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RABEPK Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RABEPK Gene

Publications for RABEPK Gene

  1. A novel Rab9 effector required for endosome-to-TGN transport. (PMID: 9230071) Díaz E … Pfeffer SR (The Journal of cell biology 1997) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. TIP47 is a key effector for Rab9 localization. (PMID: 16769818) Aivazian D … Pfeffer S (The Journal of cell biology 2006) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  5. 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 58

Products for RABEPK Gene

Sources for RABEPK Gene

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