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Aliases for RABEPK Gene

Aliases for RABEPK Gene

  • Rab9 Effector Protein With Kelch Motifs 2 3
  • 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

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

Genomic Location for RABEPK Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RABEPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABEPK Gene

Regulatory Elements 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

No data available for DME Specific Peptides for RABEPK Gene

Domains for RABEPK Gene

Protein Domains for RABEPK Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

RABEK_HUMAN
Similarity:
  • Contains 5 Kelch repeats.:
    • Q7Z6M1
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.

Gene Ontology (GO) - Molecular Function for RABEPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with RABEPK: view

Phenotypes for RABEPK Gene

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

miRNA for RABEPK Gene

miRTarBase miRNAs that target RABEPK

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
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:0005886 plasma membrane IDA --
GO:0010008 endosome membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RABEPK: view

Pathways for RABEPK Gene

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

Pathways by source for RABEPK Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway 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

Compounds for RABEPK Gene

(1) HMDB Compounds for RABEPK Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
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

Integrated Proteomics: protein expression 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 expressions with RABEPK: view

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 36
  • 99.37 (n)
  • 99.46 (a)
RABEPK 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RABEPK 36
  • 87.63 (n)
  • 84.95 (a)
RABEPK 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RABEPK 36
  • 88.44 (n)
  • 84.95 (a)
RABEPK 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rabepk 36
  • 82.62 (n)
  • 78.76 (a)
Rabepk 16
Rabepk 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RABEPK 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABEPK 37
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rabepk 36
  • 82.8 (n)
  • 79.57 (a)
chicken
(Gallus gallus)
Aves RABEPK 36
  • 61.63 (n)
  • 54.95 (a)
RABEPK 37
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RABEPK 37
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33675 36
tropical clawed frog
(Silurana tropicalis)
Amphibia rabepk 36
  • 59.04 (n)
  • 52.07 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.373 36
zebrafish
(Danio rerio)
Actinopterygii Dr.17666 36
rabepk 36
  • 57.55 (n)
  • 51.47 (a)
rabepk 37
  • 49 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 39
rice
(Oryza sativa)
Liliopsida Os01g0300900 36
  • 45.45 (n)
  • 36.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs15233 - 125,233,860(+) GTAAT(G/T)AGCCA reference, missense
rs359578 -- 125,220,947(+) ggacc(A/G)cttaa intron-variant
rs359579 -- 125,218,179(+) GCCGG(A/G)CATGG intron-variant
rs359588 -- 125,213,304(+) CCTCC(C/T)CAAGT intron-variant
rs359589 -- 125,215,205(+) GGTGG(G/T)TTTTT intron-variant

Relevant External Links for RABEPK Gene

HapMap Linkage Disequilibrium report
RABEPK

No data available for 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
genes like me logo Genes that share disorders with RABEPK: view

No data available for UniProtKB/Swiss-Prot 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
  2. Active PIKfyve associates with and promotes the membrane attachment of the late endosome-to-trans-Golgi network transport factor Rab9 effector p40. (PMID: 14530284) Ikonomov O.C. … Shisheva A. (J. Biol. Chem. 2003) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  4. 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
  5. TIP47 is a key effector for Rab9 localization. (PMID: 16769818) Aivazian D. … Pfeffer S. (J. Cell Biol. 2006) 3 4

Products for RABEPK Gene

Sources for RABEPK Gene

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