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

KIAA1456 Gene

protein-coding   GIFtS: 39
GCID: GC08P012812

KIAA1456

(Previous name: chromosome 8 open reading frame 79)
(Previous symbol: C8orf79)
  Search for KIAA1456
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
KIAA14561 2
C8orf791 2 3
Chromosome 8 Open Reading Frame 791
TRM9L2
Putative Methyltransferase KIAA14562
EC 2.1.1.-3

External Ids:    HGNC: 267251   Entrez Gene: 576042   Ensembl: ENSG000002503057   UniProtKB: Q8N9K73   UniProtKB: Q9P2723   

Export aliases for KIAA1456 gene to outside databases

Previous GC identifers: GC08P012644 GC08P012830 GC08U900355 GC08P012914 GC08P012806 GC08P012809 GC08P012810 GC08P012811


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

GeneCards Summary for KIAA1456 Gene: 
KIAA1456 (KIAA1456) is a protein-coding gene. GO annotations related to this gene include methyltransferase activity. An important paralog of this gene is ALKBH8.


(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_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KIAA1456
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1456

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1456


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

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

KIAA1456 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1456 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P012812:  view genomic region     (about GC identifiers)

Start:
12,803,151 bp from pter      End:
12,889,012 bp from pter
Size:
85,862 bases      Orientation:
plus strand

(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: CH079_HUMAN, Q8N9K7 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1456  
Size: 121 amino acids; 13671 Da
Alternative splicing: 2 isoforms:  Q8N9K7-1   Q9P272-1   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

UniProtKB/Swiss-Prot: K1456_HUMAN, Q9P272 (See protein sequence)

Recommended Name: Putative methyltransferase KIAA1456  
Size: 454 amino acids; 51299 Da
Sequence caution: Sequence=BAA95980.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAA95980.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: Q96AW6
Alternative splicing: 2 isoforms:  Q9P272-1   Q8N9K7-1   (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 KIAA1456: NX_Q9P272

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P272

  • KIAA1456 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (2 alternative transcripts): 
    NP_001093147.1  NP_065895.2  

    ENSEMBL proteins: 
     ENSP00000443288   ENSP00000432695   ENSP00000468715   ENSP00000466330   ENSP00000431717  

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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:
     IPR013216 Methyltransf_11

    Graphical View of Domain Structure for InterPro Entry Q8N9K7
    Graphical View of Domain Structure for InterPro Entry Q9P272

    ProtoNet protein and cluster: Q8N9K7

    UniProtKB/Swiss-Prot: K1456_HUMAN, Q9P272
    Similarity: Belongs to the methyltransferase superfamily


    KIAA1456 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

         Enzyme Number (IUBMB): EC 2.1.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity IEA--
         
    KIAA1456 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KIAA1456:
     Cell cycle / mitosis defect 

    Animal Models:
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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 KIAA1456

    5/29 Interacting proteins for KIAA1456 (Q9P2723) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    N6AMT1Q9Y5N53I2D: score=2 
    CDC34P494273I2D: score=1 
    CHD2O146473I2D: score=1 
    CNBPP626333I2D: score=1 
    CSE1LP550603I2D: score=1 
    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:0008152metabolic process ----

    KIAA1456 for ontologies           About GeneDecksing



    (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 KIAA1456 (K1456)

    Search CenterWatch for drugs/clinical trials and news about KIAA1456 / K1456

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA1456 gene (2 alternative transcripts): 
    NM_001099677.1  NM_020844.2  

    Unigene Cluster for KIAA1456:

    KIAA1456
    Hs.202521  [show with all ESTs]
    Unigene Representative Sequence: NM_020844
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447063(uc011kxw.2) ENST00000525249 ENST00000524591 ENST00000528335
    ENST00000400069 ENST00000528753 ENST00000532376 ENST00000529706 ENST00000529978(uc010lsq.3 uc003wwj.4 uc010lsr.3)

    miRNA
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    hsa-miR-607 hsa-miR-3938 hsa-miR-4328 hsa-miR-429 hsa-miR-218 hsa-miR-507 hsa-miR-4325 hsa-miR-200b
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB040889.1 AK094299.1 AK125638.1 AK296010.1 AK307825.1 BC016633.2 BC035082.1 

    13 DOTS entries:

    DT.75129872  DT.438114  DT.100660181  DT.208817  DT.70104581  DT.95358204  DT.100745157  DT.91981316 
    DT.95319619  DT.95358205  DT.121484770  DT.95358203  DT.97763962 

    24/43 AceView cDNA sequences (see all 43):

    BQ416698 AA331435 CR613040 CA842918 BM352582 BF510207 CD105134 BM681985 
    BC016633 BI914169 AB040889 BE671512 BX953968 BM352887 BX100401 AK125638 
    AL543405 AW439543 BE326300 AW593237 BG656154 BF446685 BX954995 NM_020844 

    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

    KIAA1456 expression in normal human tissues (normalized intensities)      KIAA1456 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACCACTCC
    KIAA1456 Expression
    About this image


    KIAA1456 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)
             Ventral Horn   
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Pancreas (Endocrine System)

    Genevestigator expression for KIAA1456

    SOURCE GeneReport for Unigene cluster: Hs.202521
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    In Situ
    Assay Products:
     

     
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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 animals and fungi.

    Orthologs for KIAA1456 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 6430573F11Rik1 , 5 RIKEN cDNA 6430573F11 gene1, 5 79.34(n)1
    74.72(a)1
      8 (23.05 cM)5
    3195821  NM_176952.41  NP_795926.21 
     364575485 
    chicken
    (Gallus gallus)
    Aves KIAA14561 KIAA1456 66.52(n)
    61.12(a)
      422741  XM_420694.3  XP_420694.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA14566
    KIAA1456
    46(a)
    1 ↔ 1
    5(105570790-105601013)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:733401 zgc:73340 52.5(n)
    46.56(a)
      326652  NM_199743.1  NP_956037.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG422616
    --
    9(a)
    1 ↔ 1
    3R(21798294-21807019)
    worm
    (Caenorhabditis elegans)
    Secernentea C35D10.126
    Protein C35D10.12
    28(a)
    1 ↔ 1
    III(4872567-4874751)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TRM96
    tRNA methyltransferase, catalyzes esterification o...
    33(a)
    1 → many
    XIII(243225-244064)


    ENSEMBL Gene Tree for KIAA1456 (if available)
    TreeFam Gene Tree for KIAA1456 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA1456 gene
    ALKBH82  

    KIAA1456 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

    10/2987 SNPs in KIAA1456 are shown (see all 2987)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507192041,2
    C--12801186(+) TCGAAC/TAAAAT 1 -- us2k10--------
    rs735446461,2
    C,F--12801202(+) TATGGC/AACAGC 1 -- us2k13Minor allele frequency- A:0.07WA CSA 122
    rs751836431,2
    C--12801298(+) CAAAAC/TTTGTA 1 -- us2k10--------
    rs1451442691,2
    --12801367(+) TTCACC/TCTTTG 1 -- us2k10--------
    rs743024511,2
    C,F--12801409(+) ACGAGC/TACAGG 1 -- us2k12Minor allele frequency- T:0.09WA NA 238
    rs1485280361,2
    C--12801438(+) TAATG-/CA    
       
    /CACA
    CACAC
    1 -- us2k10--------
    rs61504681,2
    C--12801465(+) ACACA-/CA/CACACACACA/C
    ACACACACACACACACA
    GAGTG
    2 -- us2k1 cds11NA 2
    rs1475854151,2
    C--12801607(+) ATACAA/GTAGGT 1 -- us2k10--------
    rs624875351,2
    C,F--12801650(+) TTTACG/AGTGAG 1 -- us2k110Minor allele frequency- A:0.28NA WA CSA EA 372
    rs126818521,2
    C,F,H--12801693(+) AACAAT/CTGGAC 1 -- us2k17Minor allele frequency- C:0.06NS EA WA NA 506

    HapMap Linkage Disequilibrium report for KIAA1456 (12803151 - 12889012 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIAA1456:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv465469CNV Loss19166990
    dgv2215e1CNV Complex17122850

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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
      --

    (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 KIAA1456 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KIAA1456)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human tRNA methyltransferase 9-like protein prevents tumour growth by regulating LIN9 and HIF1-a. (PubMed id 23381944)1, 3 Begley U....Begley T. (2013)
    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. (2004)
    3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (2000)
    4. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)1 Lunetta K.L....Murabito J.M. (2007)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (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. (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: 57604 HGNC: 26725 AceView: KIAA1456 Ensembl:ENSG00000250305 euGenes: HUgn57604
    ECgene: KIAA1456 H-InvDB: KIAA1456

    (According to HUGE)
    About This Section
    HUGE: KIAA1456

    (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 KIAA1456 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 KIAA1456 gene:
    Search GeneIP for patents involving KIAA1456

    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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