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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 Normal wtCFTR traffic / ER-to-Golgi and Vesicle-mediated transport. An important paralog of this gene is KLHDC1.

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

Promoters for RABEPK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RABEPK on UCSC Golden Path with GeneCards custom track

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

Proteomics data for RABEPK Gene at MOPED

Post-translational modifications for RABEPK Gene

Other Protein References for RABEPK Gene

Antibody Products

No data available for DME Specific Peptides for RABEPK Gene

Domains & Families for RABEPK Gene

Protein Domains for RABEPK Gene

InterPro:
Blocks:
ProtoNet:

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

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:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0032588 trans-Golgi network membrane TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
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

None

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:

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 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, MOPED, and MaxQB for RABEPK Gene



SOURCE GeneReport for Unigene cluster for RABEPK Gene Hs.19012

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

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia RABEPK 35
  • 87.63 (n)
  • 84.95 (a)
RABEPK 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RABEPK 35
  • 88.44 (n)
  • 84.95 (a)
RABEPK 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rabepk 35
  • 82.62 (n)
  • 78.76 (a)
Rabepk 16
Rabepk 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RABEPK 35
  • 99.37 (n)
  • 99.46 (a)
RABEPK 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rabepk 35
  • 82.8 (n)
  • 79.57 (a)
oppossum
(Monodelphis domestica)
Mammalia RABEPK 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABEPK 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves RABEPK 35
  • 61.63 (n)
  • 54.95 (a)
RABEPK 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RABEPK 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rabepk 35
  • 59.04 (n)
  • 52.07 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33675 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17666 35
rabepk 35
  • 57.55 (n)
  • 51.47 (a)
rabepk 36
  • 49 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.373 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 38
rice
(Oryza sativa)
Liliopsida Os01g0300900 35
  • 45.45 (n)
  • 36.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for RABEPK:
  • 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
rs17855990 - 125,207,688(+) CAAAC(A/G)GAAGC reference, missense
rs13302050 - 125,207,709(+) TGCAC(A/C)CCATG reference, missense
VAR_031177 -
rs17849326 - 125,233,799(+) AGAAG(A/G)TTCCA reference, missense, utr-variant-3-prime
rs15233 - 125,233,860(+) GTAAT(G/T)AGCCA reference, missense, utr-variant-3-prime

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

HapMap Linkage Disequilibrium report
RABEPK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for RABEPK Gene

Sources for RABEPK Gene

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