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KIAA0226L Gene

protein-coding   GIFtS: 44
GCID: GC13M046917

KIAA0226-Like

(Previous name: chromosome 13 open reading frame 18)
(Previous symbol: C13orf18)
  Search for KIAA0226L
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KIAA0226-like1 2
C13orf181 2 3
Chromosome 13 Open Reading Frame 181
Uncharacterized Protein KIAA0226-Like2

External Ids:    HGNC: 204201   Entrez Gene: 801832   Ensembl: ENSG000001024457   UniProtKB: Q9H7143   

Export aliases for KIAA0226L gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA0226L Gene:
KIAA0226L (KIAA0226-like) is a protein-coding gene. An important paralog of this gene is PLEKHM3.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KIAA0226L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA0226L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0226L


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

Entrez Gene cytogenetic band: 13q14.13   Ensembl cytogenetic band:  13q14.13   HGNC cytogenetic band: 13q14.11

KIAA0226L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0226L gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M046917:  view genomic region     (about GC identifiers)

Start:
46,916,136 bp from pter      End:
47,012,325 bp from pter
Size:
96,190 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K226L_HUMAN, Q9H714 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0226-like  
Size: 662 amino acids; 73457 Da
Secondary accessions: A8XR19 B3KS87 Q5W051 Q5W053 Q6PJ74 Q6PK94 Q86XH7 Q8N5J6
Alternative splicing: 5 isoforms:  Q9H714-5   Q9H714-4   Q9H714-3   Q9H714-1   Q9H714-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for KIAA0226L: NX_Q9H714

Explore proteomics data for KIAA0226L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA0226L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001273690.1  NP_001273691.1  NP_001273692.1  NP_001273693.1  NP_001273694.1  NP_001273695.1  NP_079389.2  

    ENSEMBL proteins: 
     ENSP00000368061   ENSP00000412507   ENSP00000368064   ENSP00000374558   ENSP00000386578  
     ENSP00000402357   ENSP00000414579   ENSP00000368074   ENSP00000315633   ENSP00000396935  
     ENSP00000437501   ENSP00000368057  

    KIAA0226L Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for KIAA0226L 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR025258 DUF4206

    Graphical View of Domain Structure for InterPro Entry Q9H714

    ProtoNet protein and cluster: Q9H714


    Find genes that share domains with KIAA0226L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA0226L
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    miRTarBase miRNAs that target KIAA0226L:
    hsa-mir-335-5p (MIRT017772)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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      --

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA0226L
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0226L

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for KIAA0226L (Q9H7143 ENSP000003745584) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BECN1Q144573, ENSP000003552314I2D: score=3 STRING: ENSP00000355231
    UVRAGQ9P2Y53, ENSP000003484554I2D: score=1 STRING: ENSP00000348455
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIAA0226L (K226L)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIAA0226L gene (7 alternative transcripts): 
    NM_001286761.1  NM_001286762.1  NM_001286763.1  NM_001286764.1  NM_001286765.1  NM_001286766.1  NM_025113.3  

    Unigene Cluster for KIAA0226L:

    KIAA0226-like
    Hs.98117  [show with all ESTs]
    Unigene Representative Sequence: NM_025113
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487195 ENST00000378784 ENST00000441284(uc010aco.1) ENST00000378787
    ENST00000389908 ENST00000409879 ENST00000417405 ENST00000439642 ENST00000480935
    ENST00000378797(uc001vbe.4) ENST00000322896 ENST00000429979(uc010acl.3 uc001vbf.4 uc010tfz.2 uc010acn.3 uc010acm.3 uc001vbh.4)
    ENST00000534925 ENST00000378781(uc010tfy.2)
    miRNA
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    Inhib. RNA
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    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat KIAA0226L
      QuantiTect SYBR Green Assays in human, mouse, rat KIAA0226L
      QuantiFast Probe-based Assays in human, mouse, rat KIAA0226L

    Additional mRNA sequence: 

    AK025215.1 AK093073.1 AK125750.1 AK125950.1 AK293034.1 AK300183.1 AK307854.1 AK310264.1 
    BC004495.1 BC043488.1 BX641126.1 

    13 DOTS entries:

    DT.95166567  DT.208966  DT.100760399  DT.101955605  DT.99933141  DT.95127036  DT.75121377  DT.120771909 
    DT.95166569  DT.86839140  DT.95364254  DT.99979310  DT.75194010 

    Selected AceView cDNA sequences (see all 111):

    BM457669 AW575722 BC032311 AI129310 BX641126 AK025215 BM927653 AA970021 
    BC043488 BQ064904 NM_025113 AW328103 AA736772 AI830410 AA463725 CD679213 
    BE676568 AK125750 CD632460 AW014861 BC021097 BG281146 AI972526 BX365745 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0226L (see all 24)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d · 10e ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a ·
    SP1:        -     -     -     -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -           -     -   
    SP2:                                                                                                              -     -     -     -     -           -     -   
    SP3:                                                                                                              -     -     -     -     -     -     -         
    SP4:                                                                                                              -     -     -     -     -     -     -         
    SP5:                                                                                                              -     -     -     -     -     -     -     -   

    ExUns: 17b · 17c · 17d · 17e ^ 18a · 18b · 18c · 18d · 18e ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^
    SP1:  -     -     -     -     -     -     -     -     -     -     -                 -                                                           -     -         
    SP2:  -     -     -     -                                   -     -                 -                                                           -     -         
    SP3:                                                        -     -                 -                                                           -     -         
    SP4:                                                        -     -                 -                                   -                                       
    SP5:  -     -     -     -     -     -     -     -     -     -     -                 -                                                                           

    ExUns: 30a · 30b ^ 31 ^ 32 ^ 33
    SP1:  -                           
    SP2:  -                           
    SP3:  -           -               
    SP4:  -                           
    SP5:                              


    ECgene alternative splicing isoforms for KIAA0226L

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIAA0226L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTATGATA
    KIAA0226L Expression
    About this image


    KIAA0226L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Mature B-Cells Peripheral Blood
     
     Brain (Nervous System)
             Oligodendrocyte Precursor Cells Forebrain White Matter
    KIAA0226L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA0226L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98117
        Custom PCR Arrays for KIAA0226L
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0226L

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KIAA0226L gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 5031414D18Rik1 , 5 RIKEN cDNA 5031414D18 gene1, 5 73.04(n)1
    62.83(a)1
      14 (39.53 cM)5
    2712211  NM_198642.21  NP_941044.31 
     750160275 
    chicken
    (Gallus gallus)
    Aves KIAA0226L1 KIAA0226-like ortholog 65.86(n)
    60.04(a)
      418854  XM_417049.4  XP_417049.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.152132 Transcribed sequence with weak similarity to protein more 79.13(n)    142015713 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-260b17.66
    si:ch211-260b17.6
    55(a)
    1 ↔ 1
    9(26116505-26127526) ENSDARG00000088402


    ENSEMBL Gene Tree for KIAA0226L (if available)
    TreeFam Gene Tree for KIAA0226L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA0226L gene
    PLEKHM32  DEF82  KIAA02262  PLEKHM12  
    1 SIMAP similar gene for KIAA0226L using alignment to 6 protein entries:     K226L_HUMAN (see all proteins):
    KIAA0226

    Find genes that share paralogs with KIAA0226L           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KIAA0226L (see all 1038)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381680091,2
    --46915646(+) AAAATA/CAAAAG 1 -- ds50010--------
    rs1162549291,2
    C--46915656(+) GCATCA/GCTTCC 1 -- ds50011Minor allele frequency- G:0.01WA 118
    rs734793521,2
    C,F--46915686(+) TTCCTT/CAATAT 1 -- ds50014Minor allele frequency- C:0.20WA EA 242
    rs1411985771,2
    --46915700(+) AGATAC/TGTAAC 1 -- ds50010--------
    rs1885223891,2
    --46915736(+) AAACAC/TACAAA 1 -- ds50010--------
    rs1432567171,2
    --46915793(+) CCTTAA/CATCAA 1 -- ds50010--------
    rs1913943101,2
    --46916162(+) TTCTAA/TGTGCC 1 -- ut310--------
    rs1832275621,2
    --46916237(+) AGAGGC/TACTGC 1 -- ut310--------
    rs1414548521,2
    C--46916242(+) CACTGC/GGGATG 1 -- ut310--------
    rs1508531151,2
    --46916263(+) TGACAA/GAATGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA0226L (46916136 - 47012325 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA0226L:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv250e201CNV Deletion23290073
    nsv455876CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
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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.)
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      --

    (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)
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    PubMed articles for KIAA0226L gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with KIAA0226L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Functional validation of putative tumor suppressor gene C13ORF18 in cervical cancer by Artificial Transcription Factors. (PubMed id 23522960)1 Huisman C....Rots M.G. (Mol Oncol 2013)
    5. A four-gene methylation marker panel as triage test in high-risk human papillomavirus positive patients. (PubMed id 21796628)1 Eijsink J.J....Wisman G.B. (Int. J. Cancer 2012)
    6. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    7. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (Mol. Cell. Proteomics 2009)
    8. Screening for replication of genome-wide SNP associations in sporadic ALS. (PubMed id 18987618)1 Cronin S....Hardiman O. (Eur. J. Hum. Genet. 2009)
    9. Methylation markers for CCNA1 and C13ORF18 are strongly associated with high-grade cervical intraepithelial neoplasia and cervical cancer in cervical scrapings. (PubMed id 19843677)1 Yang N....Wisman G.B. (amp 2009)
    10. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1 Ng D....Taylor P.R. (Int. J. Cancer 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80183 HGNC: 20420 AceView: C13orf18 Ensembl:ENSG00000102445 euGenes: HUgn80183
    ECgene: KIAA0226L H-InvDB: KIAA0226L

    (According to HUGE)
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    HUGE: KIAA0226L

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIAA0226L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIAA0226L gene:
    Search GeneIP for patents involving KIAA0226L

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



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