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KIAA1549L Gene

protein-coding   GIFtS: 40
GCID: GC11P033563

KIAA1549-Like

(Previous names: chromosome 11 open reading frame 69, chromosome 11 open...)
(Previous symbols: C11orf69, C11orf41)
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(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
KIAA1549-like1 2     Chromosome 11 Open Reading Frame 691
C11orf411 2 3 5     Uncharacterized Protein C11orf692
C11orf691 2 3     UPF0606 Protein C11orf412
G22 5     UPF0606 Protein KIAA1549L2
Chromosome 11 Open Reading Frame 411     

External Ids:    HGNC: 248361   Entrez Gene: 257582   Ensembl: ENSG000001104277   OMIM: 6122975   UniProtKB: Q6ZVL63   

Export aliases for KIAA1549L 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 KIAA1549L Gene:
KIAA1549L (KIAA1549-like) is a protein-coding gene. An important paralog of this gene is KIAA1549.


(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_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KIAA1549L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA1549L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1549L


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

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p13   HGNC cytogenetic band: 11p13

KIAA1549L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1549L gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P033563:  view genomic region     (about GC identifiers)

Start:
33,563,618 bp from pter      End:
33,695,648 bp from pter
Size:
132,031 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: K154L_HUMAN, Q6ZVL6 (See protein sequence)
Recommended Name: UPF0606 protein KIAA1549L  
Size: 1849 amino acids; 198999 Da
Secondary accessions: B0QYU0
Alternative splicing: 2 isoforms:  Q6ZVL6-1   Q6ZVL6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1549L: NX_Q6ZVL6

Explore proteomics data for KIAA1549L at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser105, Thr638, Thr644, Ser650, Ser651, Ser656, Thr753, Thr759
  • Modification sites at PhosphoSitePlus

  • See KIAA1549L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036326.2  
    ENSEMBL proteins: 
     ENSP00000433481   ENSP00000315295   ENSP00000265654   ENSP00000374376  

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    (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:
     IPR024606 DUF3827

    Graphical View of Domain Structure for InterPro Entry Q6ZVL6

    ProtoNet protein and cluster: Q6ZVL6

    UniProtKB/Swiss-Prot: K154L_HUMAN, Q6ZVL6
    Similarity: Belongs to the UPF0606 family


    Find genes that share domains with KIAA1549L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Phenotypes:
         1 GenomeRNAi human phenotype for KIAA1549L:
     Increased S DNA content 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for D430041D05Rik):
     adipose tissue  behavior/neurological  growth/size/body  hematopoietic system  immune system 
     integument  other  pigmentation 

    Find genes that share phenotypes with KIAA1549L           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for KIAA1549L

    miRNA
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    miRTarBase miRNAs that target KIAA1549L:
    hsa-mir-93-3p (MIRT038755), hsa-mir-361-5p (MIRT044068)

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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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    Subcellular locations from UniProtKB/Swiss-Prot
    K154L_HUMAN, Q6ZVL6: Membrane; Single-pass membrane protein (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with KIAA1549L           About GenesLikeMe


    (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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    SuperPaths for KIAA1549L About    
    See pathways by source

    SuperPathContained pathways About
    1Immune response Fc epsilon RI pathway
    VEGF - VEGF R2 Signaling Pathways0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for KIAA1549L
        VEGF - VEGF R2 Signaling Pathways



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA1549L
    Interactions:

        Search GeneGlobe Interaction Network for KIAA1549L

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

    2 Interacting proteins for KIAA1549L (Q6ZVL63 ENSP000003743764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542533, ENSP000002447694I2D: score=1 STRING: ENSP00000244769
    GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
    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 KIAA1549L (K154L)



    (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 KIAA1549L gene: 
    NM_012194.2  

    Unigene Cluster for KIAA1549L:

    KIAA1549-like
    Hs.502266  [show with all ESTs]
    Unigene Representative Sequence: NM_012194
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526400 ENST00000321505(uc021qfs.1) ENST00000265654(uc001mun.1)
    ENST00000389726
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat KIAA1549L
      QuantiFast Probe-based Assays in human, mouse, rat KIAA1549L

    Additional mRNA sequence: 

    AK094307.1 BC025668.1 U10991.1 

    4 DOTS entries:

    DT.95363486  DT.113455  DT.40120123  DT.95158585 

    Selected AceView cDNA sequences (see all 71):

    AW204610 AI207921 BM554951 NM_152314 CB144300 BQ014403 BC025668 AA338590 
    BG680827 AI307115 H06878 BU101740 F10635 AI143560 AL134210 AK124395 
    BI755632 CF995731 BE777872 AW008918 CK005863 BX102916 F13042 BI757078 

    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™, 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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    KIAA1549L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA1549L Expression
    About this image


    KIAA1549L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
    KIAA1549L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1549L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502266
        Custom PCR Arrays for KIAA1549L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1549L

    (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 KIAA1549L gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D430041D05Rik1 , 5 RIKEN cDNA D430041D05 gene1, 5 85.91(n)1
    89.79(a)1
      2 (54.59 cM)5
    2415891  NM_001033347.21  NP_001028519.21 
     1041430735 
    chicken
    (Gallus gallus)
    Aves KIAA1549L6
    KIAA1549-like
    69(a)
    1 ↔ 1
    5(6249380-6351391) ENSGALG00000012020
    lizard
    (Anolis carolinensis)
    Reptilia KIAA1549L6
    KIAA1549-like
    69(a)
    1 ↔ 1
    1(61725592-61952680)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.56922 Transcribed sequence with moderate similarity to protein more 76.71(n)    BQ524255.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kiaa1549la1 KIAA1549-like a 57.5(n)
    49.44(a)
      566592  XM_005174360.1  XP_005174417.1 


    ENSEMBL Gene Tree for KIAA1549L (if available)
    TreeFam Gene Tree for KIAA1549L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1549L gene
    KIAA15492  

    Find genes that share paralogs with KIAA1549L           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KIAA1549L
    PGOHUM00000244707


    (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 KIAA1549L (see all 2819)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs777498601,2
    F--33562117(+) TCTGAA/C/GGGGGG 1 -- us2k11NA 2
    rs1841578181,2
    --33562119(+) TGAGGA/GGGGAA 1 -- us2k10--------
    rs1389645771,2
    --33562181(+) CCATGA/GAGCAG 1 -- us2k10--------
    rs1494295861,2
    C--33562202(+) GGGCAC/TGCATT 1 -- us2k10--------
    rs1867335141,2
    --33562222(+) TACTAG/TGCAGA 1 -- us2k10--------
    rs785205521,2
    --33562345(+) CTGGTC/GATCAG 1 -- us2k10--------
    rs1906831391,2
    --33562503(+) GTATCC/TGTAAA 1 -- us2k10--------
    rs1825121981,2
    --33562541(+) AGGAAC/GAATGA 1 -- us2k10--------
    rs1483979911,2
    --33562600(+) TTCCAA/GGAGTT 1 -- us2k10--------
    rs1872593361,2
    C--33562620(+) CCTCCA/TTTTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIAA1549L (33563618 - 33695648 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIAA1549L: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA1549L
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1549L

    (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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    OMIM gene information: 612297    OMIM disorders: --


    Find genes that share disorders with KIAA1549L           About GenesLikeMe


    Export disorders for KIAA1549L 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)
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    PubMed articles for KIAA1549L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KIAA1549L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. A genome-wide association study of attempted suicide. (PubMed id 21423239)1 Willour V.L....Potash J.B. (Mol. Psychiatry 2012)
    3. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    7. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (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: 25758 HGNC: 24836 AceView: MGC34830andG2 Ensembl:ENSG00000110427 euGenes: HUgn25758
    ECgene: KIAA1549L H-InvDB: KIAA1549L

    (According to HUGE)
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    HUGE: KIAA1549L

    (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 KIAA1549L 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 KIAA1549L gene:
    Search GeneIP for patents involving KIAA1549L

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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