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

KIAA1683 Gene

protein-coding   GIFtS: 47
GCID: GC19M018367

KIAA1683

  Search for KIAA1683
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
KIAA16831 2
Uncharacterized Protein KIAA16832

External Ids:    HGNC: 293501   Entrez Gene: 807262   Ensembl: ENSG000001305187   UniProtKB: Q9H0B33   

Export aliases for KIAA1683 gene to outside databases

Previous GC identifers: GC19U990252 GC19M018759 GC19M018213 GC00U914347 GC19M018229 GC19M018230 GC19M017931


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

GeneCards Summary for KIAA1683 Gene: 
KIAA1683 (KIAA1683) is a protein-coding gene.

Gene Wiki entry for KIAA1683 Gene


(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_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1683 gene promoter:
         CREB   Pax-3   C/EBPbeta   Sp1   deltaCREB   Lmo2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA1683 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA1683

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1683


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

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

KIAA1683 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1683 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M018367:  view genomic region     (about GC identifiers)

Start:
18,367,906 bp from pter      End:
18,385,319 bp from pter
Size:
17,414 bases      Orientation:
minus 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: K1683_HUMAN, Q9H0B3 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1683  
Size: 1180 amino acids; 127693 Da
Sequence caution: Sequence=BAB21774.1; Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: B4DYH2 E9PDE0 E9PH54 Q2KHR5 Q8N4G8 Q96M14 Q9C0I0
Alternative splicing: 5 isoforms:  Q9H0B3-1   Q9H0B3-2   Q9H0B3-3   Q9H0B3-4   Q9H0B3-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1683: NX_Q9H0B3

Explore proteomics data for KIAA1683 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H0B3

  • KIAA1683 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1683 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001138776.1  NP_001138777.1  NP_079525.1  

    ENSEMBL proteins: 
     ENSP00000376213   ENSP00000470780   ENSP00000472912   ENSP00000476085   ENSP00000475861  
     ENSP00000475649  

    Human Recombinant Protein Products for KIAA1683: 
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    Novus Biologicals KIAA1683 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--

    KIAA1683 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry Q9H0B3

    ProtoNet protein and cluster: Q9H0B3

    UniProtKB/Swiss-Prot: K1683_HUMAN, Q9H0B3
    Similarity: Contains 6 IQ domains


    KIAA1683 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KIAA1683 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIAA1683 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1683


    (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 KIAA1683

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for KIAA1683 (Q9H0B32, 3 ENSP000003762134) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM3P621582, 3MINT-67316 I2D: score=5 
    CALML3P274822, 3, ENSP000003152994MINT-67078 I2D: score=5 STRING: ENSP00000315299
    CALM1P621582, 3, ENSP000003494674MINT-67316 I2D: score=5 STRING: ENSP00000349467
    CALM2P621582, 3, ENSP000002722984MINT-67316 I2D: score=5 STRING: ENSP00000272298
    TRIP6Q156542, 3, ENSP000002004574MINT-68164 I2D: score=5 STRING: ENSP00000200457
    About this table

    (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 KIAA1683 (K1683)

    Search CenterWatch for drugs/clinical trials and news about KIAA1683 / K1683

    (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 KIAA1683 gene (3 alternative transcripts): 
    NM_001145304.1  NM_001145305.1  NM_025249.3  

    Unigene Cluster for KIAA1683:

    KIAA1683
    Hs.732366  [show with all ESTs]
    Unigene Representative Sequence: NM_001145304
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392413(uc010ebn.2) ENST00000599638 ENST00000600328 ENST00000600359
    ENST00000595654 ENST00000593659 ENST00000599528
    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KIAA1683
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA1683
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): KIAA1683 (NM_001145305)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA1683
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA1683
    Sirion Biotech Customized lentivirus for stable overexpression of KIAA1683 
                         Customized lentivirus expression plasmids for stable overexpression of KIAA1683 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA1683
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA1683
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA1683

    Additional mRNA sequence: 

    AK057466.1 AK093064.1 AK302431.1 AL136867.1 BC112932.1 BC127099.1 BC127100.1 

    9 DOTS entries:

    DT.209441  DT.121487810  DT.100022180  DT.40111519  DT.121487812  DT.121487806  DT.95088623  DT.40118475 
    DT.95302428 

    16 AceView cDNA sequences:

    AX747897 AK093064 AL136867 BF988087 BQ708514 BM914331 BQ712214 AL043172 
    AK057466 BM563616 AW381542 BQ711082 BI832054 BM007766 BG981210 BG999190 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1683    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4
    SP1:                              
    SP2:                              
    SP3:                              


    ECgene alternative splicing isoforms for KIAA1683

    (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

    KIAA1683 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCTCTGGG
    KIAA1683 Expression
    About this image


    See KIAA1683 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1683

    SOURCE GeneReport for Unigene cluster: Hs.732366
        SABiosciences Custom PCR Arrays for KIAA1683
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1683

    (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 KIAA1683 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm164861 , 5 predicted gene 164861, 5 63.46(n)1
    52.92(a)1
      8 (34.15 cM)5
    6370791  XM_979362.21  XP_984456.21 
     707081605 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA16836
    KIAA1683
    20(a)
    1 ↔ 1
    GL343636.1(298710-299912)


    ENSEMBL Gene Tree for KIAA1683 (if available)
    TreeFam Gene Tree for KIAA1683 (if available)

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

    (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

    10/631 SNPs in KIAA1683 are shown (see all 631)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs104514851,2
    C,F,H--18368329(+) TGACAG/AGTGCG 6 /T syn1 ese315Minor allele frequency- A:0.09NS EA NA CSA WA 5413
    rs1399123031,2
    C--18368334(+) GGTGCG/AAGGGC 6 /R /C mis11Minor allele frequency- A:0.00NA 4006
    rs1831696681,2
    C--18368361(+) CACCAC/TGCTGG 6 M V mis10--------
    rs1121082301,2
    C,F--18368412(+) GCAAGC/TGTGTG 6 T A mis12Minor allele frequency- T:0.00CSA NA 4097
    rs617406861,2
    C,F--18368524(+) ACCCAC/TGTGAC 6 T syn13Minor allele frequency- T:0.04NS WA NA 3254
    rs2001085471,2
    C--18368525(+) CCCACG/AGACGG 6 /T /M mis11Minor allele frequency- A:0.00EU 979
    rs617406871,2
    C,F--18368529(+) CGTGAC/TGGGGT 6 I V mis16Minor allele frequency- T:0.03NS NA WA EU 4257
    rs1128065951,2
    C,F--18368533(+) ACGGGG/TTGGAG 6 Q H mis12Minor allele frequency- T:0.00CSA NA 3399
    rs1471100901,2
    C,F--18368552(+) AGTGCC/TGGGCT 6 Q R mis12Minor allele frequency- T:0.00NA EU 4327
    rs2017871461,2
    C--18368564(+) GGTCCC/TGGCGG 6 Q R mis10--------

    HapMap Linkage Disequilibrium report for KIAA1683 (18367906 - 18385319 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for KIAA1683 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718287CNV Deletion23290073
    dgv3778n71CNV Loss21882294
    nsv828472CNV Loss20364138
    nsv911264CNV Loss21882294
    nsv911260CNV Loss21882294
    nsv833775CNV Loss17160897
    nsv470131CNV Loss18288195
    dgv3781n71CNV Loss21882294
    nsv911271CNV Loss21882294
    dgv3779n71CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1683

    (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

    KIAA1683 for disorders           About MalaCards

    KIAA1683 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIAA1683
    Human Genome Epidemiology (HuGE) Navigator: KIAA1683 (2 documents)

    Export disorders for KIAA1683 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 KIAA1683 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with KIAA1683)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. 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)
    9. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (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: 80726 HGNC: 29350 AceView: KIAA1683 Ensembl:ENSG00000130518 euGenes: HUgn80726
    ECgene: KIAA1683 H-InvDB: KIAA1683

    (According to HUGE)
    About This Section
    HUGE: KIAA1683

    (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 KIAA1683 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 KIAA1683 gene:
    Search GeneIP for patents involving KIAA1683

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

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    Category
    (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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