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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIAA0368 Gene

protein-coding   GIFtS: 52
GCID: GC09M114122

KIAA0368

 Explore 3 diseases affiliated with
KIAA0368 via our new
 Human Malady Compendium 
Biological research products
for KIAA0368
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
KIAA03681 2     Homolog Of Yeast Ecm292
ECM291 2     Proteasome-Associated Protein ECM29 Homolog2
FLJ220361     Ecm293
ECM29 Homolog, Proteasome Accessory Protein2     

External Ids:    HGNC: 290201   Entrez Gene: 233922   Ensembl: ENSG000001368137   UniProtKB: Q5VYK33   

Export aliases for KIAA0368 gene to outside databases

Previous GC identifers: GC09M104921 GC09M105855 GC09M107580 GC09M109502 GC09M109504 GC09M111203 GC09M113162 GC09M083721


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: ECM29_HUMAN, Q5VYK3
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 Wiki entry for KIAA0368


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0368 gene promoter:
         c-Fos   TBP   AP-1   E4BP4   Evi-1   Max   Meis-1a   c-Jun   Meis-1   c-Myc   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0368


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31.3   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q32

KIAA0368 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0368 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M114122:  view genomic region     (about GC identifiers)

Start:
114,122,972 bp from pter      End:
114,247,025 bp from pter
Size:
124,054 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ECM29_HUMAN, Q5VYK3 (See protein sequence)
Recommended Name: Proteasome-associated protein ECM29 homolog  
Size: 1845 amino acids; 204291 Da
Subunit: 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
Subcellular location: Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Endosome. Cytoplasm,
cytoskeleton, centrosome. Nucleus. Endosome, multivesicular body. Cytoplasmic vesicle
Sequence caution: Sequence=AAH21127.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH73240.1; Type=Erroneous gene model prediction; Sequence=CAH73465.1; Type=Erroneous gene model prediction;
Secondary accessions: O15074 Q8WU82

Explore the universe of human proteins at neXtProt for KIAA0368: NX_Q5VYK3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VYK3

  • KIAA0368 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001073867.1  
    ENSEMBL proteins: 
     ENSP00000339889   ENSP00000363504   ENSP00000259335   ENSP00000363499  

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    Uscn Proteins for KIAA0368

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502colocalizes with proteasome complex IDA15496406
    GO:0005634nucleus IDA15496406
    GO:0005769early endosome IDA15496406
    GO:0005770late endosome IDA15496406
    GO:0005771multivesicular body IDA--


    KIAA0368 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KIAA0368 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011989 ARM-like
     IPR026826 ECM29_metazoa
     IPR024372 Proteasome_stabil_ECM29
     IPR026827 ECM29/GCN1
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q5VYK3

    ProtoNet protein and cluster: Q5VYK3

    UniProtKB/Swiss-Prot: ECM29_HUMAN, Q5VYK3
    Similarity: Contains 27 HEAT repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ECM29_HUMAN, Q5VYK3
    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

         Genatlas biochemistry entry for KIAA0368:
    cDNA sequence,expressed in brain,>100kDa,related to C elegans cosmid D2045

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    KIAA0368 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for KIAA0368:
     Increased G1 DNA content  Increased cell size 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0368

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/289 Interacting proteins for KIAA0368 (Q5VYK32, 3 ENSP000002593354) via UniProtKB, MINT, STRING, and/or I2D (see all 289)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTPS1P178122, 3MINT-8173832 I2D: score=2 
    IKBKGQ9Y6K92, 3MINT-48195 I2D: score=2 
    PSMC2P359983, ENSP000002926444I2D: score=4 STRING: ENSP00000292644
    PSMD4P550363, ENSP000003578794I2D: score=4 STRING: ENSP00000357879
    IARSP412523, ENSP000003647944I2D: score=2 STRING: ENSP00000364794
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030433ER-associated protein catabolic process IMP15496406


    KIAA0368 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIAA0368
    Search CenterWatch for drugs/clinical trials and news about KIAA0368 / ECM29 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA0368 gene: 
    NM_001080398.1  

    Unigene Cluster for KIAA0368:

    KIAA0368
    Hs.368255  [show with all ESTs]
    Unigene Representative Sequence: NM_001080398
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338205(uc010muc.1) ENST00000374383 ENST00000465499 ENST00000259335(uc004bfe.1)
    ENST00000374378

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    hsa-miR-320a hsa-miR-4263 hsa-miR-548v hsa-miR-221 hsa-miR-205* hsa-miR-450b-5p hsa-miR-187* hsa-miR-183
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    Additional cDNA sequence: 

    AB002366.1 AF052139.1 AK024705.1 AK025689.1 AK027063.1 AK122712.1 AK124590.1 AK127247.1 
    AK308313.1 BC021127.1 

    19 DOTS entries:

    DT.117279  DT.97847982  DT.434076  DT.121158767  DT.97780216  DT.121158786  DT.75131147  DT.100665929 
    DT.121158775  DT.121158783  DT.95183944  DT.97777994  DT.100675564  DT.100792160  DT.121158749  DT.91757306 
    DT.92029372  DT.75118687  DT.91654203 

    24/267 AceView cDNA sequences (see all 267):

    BQ448494 BX504414 AA453758 AK027063 AA454671 CR617979 BM789643 CA944571 
    BM905947 BM765572 BM765608 AI683301 AI911691 BQ437531 BM713378 BE855545 
    AA683594 AA322214 C00385 BE378250 AF052139 BE693877 BM674714 BM764473 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIAA0368 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KIAA0368 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0368

    SOURCE GeneReport for Unigene cluster: Hs.368255
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KIAA0368 gene from 9/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AI3141801 , 5 expressed sequence AI3141801, 5 90.31(n)1
    96.02(a)1
      4 (32.35 cM)5
    2302491  NM_172381.21  NP_759013.21 
     587989115 
    chicken
    (Gallus gallus)
    Aves KIAA03681 KIAA0368 78.07(n)
    85.5(a)
      427336  XM_424915.3  XP_424915.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA03686
    --
    85(a)
    1 ↔ 1
    GL343476.1(403949-464679)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.279122 Xenopus laevis transcribed sequence with weak similarity more 75.91(n)    BU912362.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5637771 similar to Proteasome-associated protein ECM29 homolog 68.47(n)
    74.74(a)
      563777  NM_001162486.1  NP_001155958.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88581 , 3 CG88581 30(a)3
    45.86(n)1
    35.25(a)1
      48E83
    363191  NM_136902.21  NP_610746.11 
    worm
    (Caenorhabditis elegans)
    Secernentea D2045.21 , 3 Protein D2045.21 33(a)3
    43.14(n)1
    31.77(a)1
      III(10524551-10532102)3
    1764641  NM_066905.21  NP_499306.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G267801 proteasome component ECM29 44.03(n)
    31.59(a)
      817219  NM_179755.3  NP_850086.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g01373001 hypothetical protein 45.53(n)
    30.62(a)
      4349719  NM_001072228.1  NP_001065696.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA0368 gene
    1 SIMAP similar gene for KIAA0368 using alignment to 2 protein entries:     J3KN16_HUMAN (see all proteins):
    ECM29

    KIAA0368 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KIAA0368
    PGOHUM00000250507


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1957 NCBI SNPs in KIAA0368 are shown (see all 1957    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1503605811,2
    --114122492(+) GAGTAC/TTTGGT 1 -- ds50010--------
    rs1910405471,2
    --114122542(+) AAGACA/GCCATA 1 -- ds50010--------
    rs1380784691,2
    --114122561(+) AAAAAA/CCATCC 1 -- ds50010--------
    rs1837988041,2
    --114122565(+) AACATC/TCGAAG 1 -- ds50010--------
    rs123395251,2
    H--114122592(+) CAATAG/ACCATT 1 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1882856201,2
    --114122593(+) AATAGC/TCATTC 1 -- ds50010--------
    rs1932950481,2
    --114122653(+) ACTGAC/TGTTCA 1 -- ds50010--------
    rs777054281,2
    F,--114122696(+) ACTTAA/TATTTT 1 -- ds50011Minor allele frequency- T:0.12WA 118
    rs169159921,2
    C,F,H,--114122763(+) TAGGTG/ACTATC 1 -- ds500122Minor allele frequency- A:0.03NA NS EA 2218
    rs1495436831,2
    --114122775(+) ACGGCA/TGTGTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KIAA0368 (114122972 - 114247025 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for KIAA0368
         6 CNVs: 22566 96252 100751 83148 44371 65496
         2 Indels: 96254 96253

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KIAA0368 for disorders           About GeneDecksing

    3 diseases for KIAA0368:    About MalaCards
    allergic contact dermatitis    contact dermatitis    dermatitis

    1 disease from the University of Copenhagen DISEASES database for KIAA0368:
    Allergic contact dermatitis
    Human Genome Epidemiology (HuGE) Navigator: KIAA0368 (1 document)

    Export disorders for KIAA0368 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KIAA0368 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with KIAA0368)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PubMed id 20682791)1, 2, 3 Gorbea C.... Rechsteiner M. (2010)
    2. Characterization of mammalian Ecm29, a 26 S proteasome-associated protein that localizes to the nucleus and membrane vesicles. (PubMed id 15496406)1, 2, 3 Gorbea C....Rechsteiner M. (2004)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23392 HGNC: 29020 AceView: KIAA0368 Ensembl:ENSG00000136813 euGenes: HUgn23392
    ECgene: KIAA0368 H-InvDB: KIAA0368

    (According to HUGE)
    About This Section
    HUGE: KIAA0368

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KIAA0368 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KIAA0368 gene:
    Search GeneIP for patents involving KIAA0368

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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