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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 Delta508-CFTR traffic / ER-to-Golgi in CF. 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

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

Genomics for RABEPK Gene

Regulatory Elements for RABEPK Gene

Enhancers for RABEPK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F125198 0.6 ENCODE 19.6 -0.2 -154 3.0 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS PRPS1P2 RABEPK GOLGA1 SCAI GAPVD1 LOC105376271 RPSAP76
GH09F125189 0.2 ENCODE 19.5 -10.6 -10607 2.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RABEPK PRPS1P2 GAPVD1 RNU6-1020P PPP6C NDUFB3P2
GH09F125182 1.3 Ensembl ENCODE 19.4 -17.1 -17136 1.6 POLR2A GLIS1 SCRT2 STAT3 MAX RCOR1 EP300 RABEPK PRPS1P2 NDUFB3P2 PPP6C
GH09F125124 0.6 Ensembl ENCODE 18.5 -73.9 -73879 3.3 HDGF HDAC1 PKNOX1 SIN3A ZNF121 GLIS2 EGR1 FOS EGR2 CBFB RABEPK PRPS1P2 SCAI GC09P125105
GH09F125176 0.6 ENCODE 17.6 -23.4 -23357 0.8 BCOR PKNOX1 TAL1 ZMYM3 ZNF384 ZIC2 ZNF316 NCOR1 PRDM10 NFE2 RABEPK NDUFB3P2 PRPS1P2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RABEPK on UCSC Golden Path with GeneCards custom track

Promoters for RABEPK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001314280 -142 2001 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 FOS SP3

Genomic Location for RABEPK Gene

Chromosome:
9
Start:
125,200,542 bp from pter
End:
125,234,159 bp from pter
Size:
33,618 bases
Orientation:
Plus strand

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

Protein Domains for RABEPK Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z6M1

UniProtKB/Swiss-Prot:

RABEK_HUMAN :
  • Contains 5 Kelch repeats.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with RABEPK: view

No data available for Gene Families 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.
genes like me logo Genes that share phenotypes with RABEPK: view

Animal Model Products

Inhibitory RNA Products

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 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
Jensen Localization Image for RABEPK Gene COMPARTMENTS Subcellular localization image for RABEPK gene
Compartment Confidence
endosome 5
plasma membrane 5
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

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:0005886 plasma membrane IDA --
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
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:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with RABEPK: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia RABEPK 34 35
  • 88.44 (n)
cow
(Bos Taurus)
Mammalia RABEPK 34 35
  • 87.63 (n)
rat
(Rattus norvegicus)
Mammalia Rabepk 34
  • 82.8 (n)
mouse
(Mus musculus)
Mammalia Rabepk 34 16 35
  • 82.62 (n)
oppossum
(Monodelphis domestica)
Mammalia RABEPK 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABEPK 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves RABEPK 34 35
  • 61.63 (n)
lizard
(Anolis carolinensis)
Reptilia RABEPK 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabepk 34
  • 59.04 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33675 34
zebrafish
(Danio rerio)
Actinopterygii rabepk 34 35
  • 57.55 (n)
Dr.17666 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.373 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 37
rice
(Oryza sativa)
Liliopsida Os01g0300900 34
  • 45.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs10121515 -- 125,232,245(+) ACACA(C/G)AGAGA intron-variant
rs10121756 -- 125,227,031(+) tgcat(A/G)tggtg intron-variant
rs10123483 -- 125,229,147(+) tactc(C/G)ggagg intron-variant
rs1045377 -- 125,213,461(+) CGTAT(C/T)TGGGT intron-variant, reference, synonymous-codon
rs1045383 -- 125,220,645(+) GGGGG(C/T)GGAGA intron-variant, reference, synonymous-codon

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)

Relevant External Links 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

Relevant External Links for RABEPK

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

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) Diaz E. … Pfeffer S.R. (J. Cell Biol. 1997) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. TIP47 is a key effector for Rab9 localization. (PMID: 16769818) Aivazian D. … Pfeffer S. (J. Cell Biol. 2006) 3 4 64
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RABEPK Gene

Sources for RABEPK Gene

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