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

KIAA1147 Gene

protein-coding   GIFtS: 36
GCID: GC07M141356

KIAA1147

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

GeneCards Summary for KIAA1147 Gene: 
KIAA1147 (KIAA1147) is a protein-coding gene. Diseases associated with KIAA1147 include transient cerebral ischemia, and ischemia.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences 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
   Search SABiosciences Chromatin IP Primers for KIAA1147

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A4D1U4

  • KIAA1147 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1147 Protein Expression
    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)
    About This Section
    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


    KIAA1147 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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)

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA1147

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 KIAA1147 (LCHN)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    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™, 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

    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


    See KIAA1147 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1147

    SOURCE GeneReport for Unigene cluster: Hs.521240
        SABiosciences Custom PCR Arrays for KIAA1147
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1147

    (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 chordates.

    Orthologs for KIAA1147 gene from 4/10 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 78.35(n)
    87.79(a)
      427917  XM_425490.2  XP_425490.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA11476
    Uncharacterized protein
    82(a)
    1 ↔ 1
    5(16133560-16162515)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-238n5.41 si:ch211-238n5.4 68.57(n)
    72.75(a)
      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)
    About This Section
    Paralogs for KIAA1147 gene
    1 SIMAP similar gene for KIAA1147 using alignment to 2 protein entries:     C9J7X6_HUMAN (see all proteins):
    LCHN

    KIAA1147 for paralogs           About GeneDecksing



    (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) 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

    10/899 SNPs in KIAA1147 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    4 diseases for KIAA1147:    About MalaCards
    transient cerebral ischemia    ischemia    cerebritis    neuronitis


    KIAA1147 for disorders           About GeneDecksing


    Export disorders for KIAA1147 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 KIAA1147 gene integrated from 9 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. (1999)
    2. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    3. A germline-specific class of small RNAs binds mammali an Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (2006)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)2 Scherer S.W.... Tsui L.-C. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 57189 HGNC: 29472 Ensembl:ENSG00000257093 euGenes: HUgn57189 ECgene: KIAA1147
    H-InvDB: KIAA1147

    (According to HUGE)
    About This Section
    HUGE: KIAA1147

    (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 KIAA1147 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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