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Aliases for KIAA0368 Gene

Aliases for KIAA0368 Gene

  • KIAA0368 2 3
  • ECM29 3 4
  • ECM29 Homolog, Proteasome Accessory Protein 3
  • Proteasome-Associated Protein ECM29 Homolog 3
  • ECM29 Homolog (S. Cerevisiae) 2
  • Homolog Of Yeast Ecm29 3

External Ids for KIAA0368 Gene

Previous GeneCards Identifiers for KIAA0368 Gene

  • GC09M104921
  • GC09M105855
  • GC09M107580
  • GC09M109502
  • GC09M109504
  • GC09M111203
  • GC09M113162
  • GC09M114122
  • GC09M083721

Summaries for KIAA0368 Gene

GeneCards Summary for KIAA0368 Gene

KIAA0368 (KIAA0368) is a Protein Coding gene. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for KIAA0368 Gene

  • Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis.

Gene Wiki entry for KIAA0368 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0368 Gene

Genomics for KIAA0368 Gene

Regulatory Elements for KIAA0368 Gene

Enhancers for KIAA0368 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
GH09F111457 1.1 Ensembl ENCODE 12.6 +26.3 26260 1.3 ZFP69B ZNF692 CEBPB KIAA0368 GNG10 ENSG00000224644 ZNF483 RNA5SP294
GH09F111456 0.4 Ensembl 11.9 +27.8 27845 0.6 GATA3 ADNP KIAA0368 GNG10 ENSG00000224644 PTGR1 RNA5SP294
GH09F111449 0.6 ENCODE 11.6 +34.6 34593 0.7 ZNF664 KIAA0368 RNA5SP294
GH09F111527 1.1 Ensembl ENCODE 10.7 -44.3 -44297 3.3 CTCF ZNF654 MAX TRIM22 SIN3A REST MNT RAD21 ZFHX2 POLR2A ENSG00000224644 KIAA0368 ZNF483 PTGR1
GH09F111602 0.6 ENCODE 10.3 -119.6 -119640 3.2 HDGF ZNF146 PKNOX1 CEBPG BMI1 YY1 ZNF366 POLR2A HNF4G ETV6 PTGR1 GNG10 ENSG00000224644 KIAA0368 PIR33411
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KIAA0368 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0368 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001311586 1145 3600 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for KIAA0368 Gene

Chromosome:
9
Start:
111,360,692 bp from pter
End:
111,484,745 bp from pter
Size:
124,054 bases
Orientation:
Minus strand

Genomic View for KIAA0368 Gene

Genes around KIAA0368 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0368 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0368 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0368 Gene

Proteins for KIAA0368 Gene

  • Protein details for KIAA0368 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VYK3-ECM29_HUMAN
    Recommended name:
    Proteasome-associated protein ECM29 homolog
    Protein Accession:
    Q5VYK3
    Secondary Accessions:
    • O15074
    • Q8WU82

    Protein attributes for KIAA0368 Gene

    Size:
    1845 amino acids
    Molecular mass:
    204291 Da
    Quaternary structure:
    • Non-stoichiometric component of the proteasome; associates with the 26S proteasome. Interacts (via N-terminus) with VPS11, VPS26A, VPS36, RAB11FIP4 and RABEP1. Interacts (via C-terminus) with DCTN1, DCTN2, KIF5B, MYH7, MYH10, MYO10 and ARF6.
    SequenceCaution:
    • Sequence=AAH21127.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH73240.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73465.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for KIAA0368 Gene

Post-translational modifications for KIAA0368 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIAA0368 Gene

Domains & Families for KIAA0368 Gene

Protein Domains for KIAA0368 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VYK3

UniProtKB/Swiss-Prot:

ECM29_HUMAN :
  • Contains 27 HEAT repeats.
Similarity:
  • Contains 27 HEAT repeats.
genes like me logo Genes that share domains with KIAA0368: view

No data available for Gene Families for KIAA0368 Gene

Function for KIAA0368 Gene

Molecular function for KIAA0368 Gene

GENATLAS Biochemistry:
cDNA sequence,expressed in brain,>100kDa,related to C elegans cosmid D2045
UniProtKB/Swiss-Prot Function:
Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis.

Gene Ontology (GO) - Molecular Function for KIAA0368 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
GO:0032947 protein complex scaffold IEA --
genes like me logo Genes that share ontologies with KIAA0368: view
genes like me logo Genes that share phenotypes with KIAA0368: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0368 Gene

Localization for KIAA0368 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0368 Gene

Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Endosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Endosome, multivesicular body. Cytoplasmic vesicle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0368 Gene COMPARTMENTS Subcellular localization image for KIAA0368 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
endosome 5
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KIAA0368 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 colocalizes_with proteasome complex IDA 15496406
GO:0005634 nucleus IEA,IDA 15496406
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 15496406
genes like me logo Genes that share ontologies with KIAA0368: view

Pathways & Interactions for KIAA0368 Gene

SuperPathways for KIAA0368 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0368 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 15496406
GO:0043248 proteasome assembly IEA --
genes like me logo Genes that share ontologies with KIAA0368: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA0368 Gene

Transcripts for KIAA0368 Gene

Unigene Clusters for KIAA0368 Gene

KIAA0368:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0368 Gene

No ASD Table

Relevant External Links for KIAA0368 Gene

GeneLoc Exon Structure for
KIAA0368
ECgene alternative splicing isoforms for
KIAA0368

Expression for KIAA0368 Gene

mRNA expression in normal human tissues for KIAA0368 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA0368 Gene

This gene is overexpressed in Muscle - Skeletal (x7.4).

Protein differential expression in normal tissues from HIPED for KIAA0368 Gene

This gene is overexpressed in Bone (53.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIAA0368 Gene



Protein tissue co-expression partners for KIAA0368 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIAA0368 Gene:

KIAA0368

SOURCE GeneReport for Unigene cluster for KIAA0368 Gene:

Hs.368255
genes like me logo Genes that share expression patterns with KIAA0368: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for KIAA0368 Gene

Orthologs for KIAA0368 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KIAA0368 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0368 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia KIAA0368 34 35
  • 92.18 (n)
cow
(Bos Taurus)
Mammalia KIAA0368 34 35
  • 90.55 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA0368 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AI314180 34 16 35
  • 89.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIAA0368 34 35
  • 78.27 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA0368 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0368 34
  • 72.69 (n)
Str.14108 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.27912 34
zebrafish
(Danio rerio)
Actinopterygii fbxo10 35
  • 73 (a)
OneToOne
LOC563777 34
  • 68.5 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9920 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011822 34
  • 46.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8858 36 34 35
  • 46.26 (n)
worm
(Caenorhabditis elegans)
Secernentea D2045.2 36
  • 33 (a)
H04D03.3 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM29 35 37
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G26780 34
  • 44.36 (n)
rice
(Oryza sativa)
Liliopsida Os11g0137300 34
  • 45.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for KIAA0368 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIAA0368 Gene

ENSEMBL:
Gene Tree for KIAA0368 (if available)
TreeFam:
Gene Tree for KIAA0368 (if available)

Paralogs for KIAA0368 Gene

(1) SIMAP similar genes for KIAA0368 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with KIAA0368: view

No data available for Paralogs for KIAA0368 Gene

Variants for KIAA0368 Gene

Sequence variations from dbSNP and Humsavar for KIAA0368 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10115054 -- 111,414,905(+) gaggc(C/T)gttat intron-variant
rs10120947 -- 111,486,739(+) AGTCA(C/G)CTTGC upstream-variant-2KB
rs10121348 -- 111,411,401(+) CACTC(C/T)AATTC intron-variant
rs10121708 -- 111,459,834(+) AAAAA(A/G)ATGGC intron-variant
rs10122812 -- 111,448,388(+) GTTTT(A/G)GAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0368 Gene

Variant ID Type Subtype PubMed ID
dgv12851n54 CNV gain 21841781
dgv4125n106 CNV deletion 24896259
esv2057050 CNV deletion 18987734
esv2492334 CNV deletion 19546169
esv2659400 CNV deletion 23128226
esv2666027 CNV deletion 23128226
esv2738934 CNV deletion 23290073
esv2738935 CNV deletion 23290073
esv29361 CNV loss 19812545
esv3545318 CNV deletion 23714750
esv3621488 CNV loss 21293372
nsv1077174 CNV deletion 25765185
nsv416941 CNV deletion 16902084
nsv436620 CNV deletion 17901297
nsv473462 CNV novel sequence insertion 20440878
nsv525736 CNV loss 19592680
nsv615188 CNV loss 21841781
nsv615190 CNV gain+loss 21841781
nsv825039 CNV gain 20364138
nsv825040 CNV gain 20364138

Variation tolerance for KIAA0368 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.39; 95.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0368 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0368

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0368 Gene

Disorders for KIAA0368 Gene

Relevant External Links for KIAA0368

Genetic Association Database (GAD)
KIAA0368
Human Genome Epidemiology (HuGE) Navigator
KIAA0368
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0368

No disorders were found for KIAA0368 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA0368 Gene

Publications for KIAA0368 Gene

  1. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PMID: 20682791) Gorbea C. … Rechsteiner M. (J. Biol. Chem. 2010) 2 3 4 64
  2. Characterization of mammalian Ecm29, a 26 S proteasome-associated protein that localizes to the nucleus and membrane vesicles. (PMID: 15496406) Gorbea C. … Rechsteiner M. (J. Biol. Chem. 2004) 2 3 4 64
  3. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4 64
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for KIAA0368 Gene

Sources for KIAA0368 Gene

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