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KIAA1147 Gene

protein-coding   GIFtS: 37
GCID: GC07M141356

KIAA1147

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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
KIAA11471 2
LCHN2
PRO25612
Predicted Protein Of HQ25612
Protein LCHN2

External Ids:    HGNC: 294721   Entrez Gene: 571892   Ensembl: ENSG000002570937   UniProtKB: A4D1U43   

Export aliases for KIAA1147 gene to outside databases

Previous GC identifers: GC07M141003 GC07M135653


(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 KIAA1147 Gene:
KIAA1147 (KIAA1147) is a protein-coding gene.

UniProtKB/Swiss-Prot: LCHN_HUMAN, A4D1U4
Function: May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the
hippocampus following transient cerebral ischemia (By similarity)




(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_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA1147 gene promoter:
         AML1a   GATA-3   Pbx1a   Tal-1beta   LCR-F1   HNF-1A   POU2F1   POU2F1a   HNF-1   ITF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA1147


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

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

KIAA1147 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1147 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M141356:  view genomic region     (about GC identifiers)

Start:
141,356,528 bp from pter      End:
141,401,953 bp from pter
Size:
45,426 bases      Orientation:
minus strand

2 alternative locations:
Chr7-,CRA_TCAG 140,694,236-140,739,666      Chr7-,NW_003315922 23,320-68,748     

(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: LCHN_HUMAN, A4D1U4 (See protein sequence)
Recommended Name: Protein LCHN  
Size: 455 amino acids; 51446 Da
Secondary accessions: Q9ULS3

Explore the universe of human proteins at neXtProt for KIAA1147: NX_A4D1U4

Explore proteomics data for KIAA1147 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA1147 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073861.1  
    ENSEMBL proteins: 
     ENSP00000445768   ENSP00000418236  

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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:
     IPR018626 DUF2347

    Graphical View of Domain Structure for InterPro Entry A4D1U4

    ProtoNet protein and cluster: A4D1U4

    UniProtKB/Swiss-Prot: LCHN_HUMAN, A4D1U4
    Similarity: Belongs to the LCHN family


    Find genes that share domains with KIAA1147           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LCHN_HUMAN, A4D1U4
    Function: May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the
    hippocampus following transient cerebral ischemia (By similarity)

    Animal Models:

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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    (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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    Interactions:

        Search GeneGlobe Interaction Network for KIAA1147

    (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
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    Browse Tocris compounds for KIAA1147 (LCHN)



    (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 KIAA1147 gene: 
    NM_001080392.1  

    Unigene Cluster for KIAA1147:

    KIAA1147
    Hs.521240  [show with all ESTs]
    Unigene Representative Sequence: NM_001080392
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000536163(uc003vwk.3) ENST00000482493
    miRNA
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    Additional mRNA sequence: 

    AB032973.2 AF116707.1 AF136629.1 BC012493.1 

    5 DOTS entries:

    DT.215982  DT.102842950  DT.121048454  DT.75103686  DT.95370845 

    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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    KIAA1147 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTTTTAAT
    KIAA1147 Expression
    About this image

    KIAA1147 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA1147 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521240
        Custom PCR Arrays for KIAA1147
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KIAA1147 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia E330009J07Rik1 , 5 RIKEN cDNA E330009J07 gene1, 5 89.94(n)1
    95.91(a)1
      6 (18.82 cM)5
    2437801  NM_175528.41  NP_780737.11 
     404013755 
    chicken
    (Gallus gallus)
    Aves KIAA11471 KIAA1147 80.33(n)
    90.44(a)
      427917  XM_425490.3  XP_425490.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA11476
    KIAA1147
    84(a)
    1 ↔ 1
    5(16133560-16162515)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-238n5.41 si:ch211-238n5.4   --   556432  NM_001044347.1  NP_001037812.1 


    ENSEMBL Gene Tree for KIAA1147 (if available)
    TreeFam Gene Tree for KIAA1147 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA1147 gene
    1 SIMAP similar gene for KIAA1147 using alignment to 2 protein entries:     C9J7X6_HUMAN (see all proteins):
    LCHN

    Find genes that share paralogs with KIAA1147           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 KIAA1147 (see all 899)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs601527161,2
    C--135674606(+) ATACA-/CA    
       
    /TACA
    TATAT
    1 -- int12NA CSA 4
    rs18595701,2
    C,F,H--141356184(+) ATATAC/TCAAGT 1 -- ds500117Minor allele frequency- T:0.01NS EA NA WA CSA 1072
    rs1913655461,2
    --141356223(+) AGAGAC/GTTTGT 1 -- ds50010--------
    rs1424209601,2
    --141356498(+) TTTCTC/TGGACT 1 -- ds50010--------
    rs1512941091,2
    --141356526(+) ACGCAC/TGTTCA 1 -- ds50010--------
    rs2003760821,2
    F--141356540(+) TAAAAT/CGTGAA 1 -- ut311Minor allele frequency- C:0.00EU 571
    rs1832347551,2
    --141356640(+) ATAGAC/TGTTAT 1 -- ut310--------
    rs3686109781,2
    C--141356652(+) TGTACC/GACAGA 1 -- ut310--------
    rs1885121601,2
    --141356834(+) AGACCC/TGAAAC 1 -- ut310--------
    rs749360041,2
    C,F--141356878(+) TCTTAG/AGCTGG 1 -- ut311Minor allele frequency- A:0.04WA 118

    HapMap Linkage Disequilibrium report for KIAA1147 (141356528 - 141401953 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA1147:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5973CNV Insertion18451855
    esv34135CNV Loss18971310

    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 KIAA1147 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KIAA1147)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (DNA Res. 1999)
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    3. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)2 Scherer S.W.... Tsui L.-C. (Science 2003)
    5. 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)

    (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: 57189 HGNC: 29472 Ensembl:ENSG00000257093 euGenes: HUgn57189 ECgene: KIAA1147
    H-InvDB: KIAA1147

    (According to HUGE)
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    HUGE: KIAA1147

    (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 KIAA1147 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 KIAA1147 gene:
    Search GeneIP for patents involving KIAA1147

    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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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