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

KIAA1377 Gene

protein-coding   GIFtS: 44
GCID: GC11P101819

KIAA1377

  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
KIAA13771 2
Uncharacterized Protein KIAA13772

External Ids:    HGNC: 292641   Entrez Gene: 575622   Ensembl: ENSG000001103187   OMIM: 6146345   UniProtKB: Q9P2H03   

Export aliases for KIAA1377 gene to outside databases

Previous GC identifers: GC11P103979 GC11P103142 GC11U900398 GC11P101323 GC11P101290 GC11P097711


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

GeneCards Summary for KIAA1377 Gene: 
KIAA1377 (KIAA1377) is a protein-coding gene. Diseases associated with KIAA1377 include monomelic amyotrophy, and retinitis. GO annotations related to this gene include protein binding.

Gene Wiki entry for KIAA1377 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_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1377 gene promoter:
         USF1   Sox5   USF-1:USF-2   AP-4   FOXJ2 (long isoform)   USF-1   FOXJ2   TGIF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1377

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1377


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

Entrez Gene cytogenetic band: 11q22.1   Ensembl cytogenetic band:  11q22.1   HGNC cytogenetic band: 11q22.2

KIAA1377 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1377 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P101819:  view genomic region     (about GC identifiers)

Start:
101,785,746 bp from pter      End:
101,871,793 bp from pter
Size:
86,048 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: K1377_HUMAN, Q9P2H0 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA1377  
Size: 1117 amino acids; 125870 Da
Secondary accessions: Q4G0U6

Explore the universe of human proteins at neXtProt for KIAA1377: NX_Q9P2H0

Explore proteomics data for KIAA1377 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P2H0

  • KIAA1377 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1377 Protein Expression
    REFSEQ proteins: NP_065853.2  
    ENSEMBL proteins: 
     ENSP00000263468   ENSP00000433643   ENSP00000437014   ENSP00000443184  

    Human Recombinant Protein Products for KIAA1377: 
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    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:0030496midbody IEA--

    KIAA1377 for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    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

    ProtoNet protein and cluster: Q9P2H0


    (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 IPI15383276
         
    KIAA1377 for ontologies           About GeneDecksing


    Animal Models:
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    Inhib. RNA
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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 KIAA1377

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/125 Interacting proteins for KIAA1377 (Q9P2H01, 2, 3 ENSP000002634684) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT7O952511, 2, 3, ENSP000002590214EBI-473176,EBI-473199 MINT-3981562 MINT-3981016 I2D: score=3 STRING: ENSP00000259021
    GADD45GO952571, 2, 3, ENSP000002525064EBI-473176,EBI-448202 MINT-3981610 MINT-3979313 I2D: score=2 STRING: ENSP00000252506
    LUC7L2Q9Y3832, 3MINT-65820 MINT-3981203 I2D: score=5 
    HMOX2P305192, 3MINT-63650 MINT-8258335 I2D: score=5 
    NUDT21O438092, 3MINT-8264402 MINT-64644 I2D: score=5 
    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 KIAA1377 (K1377)

    Search CenterWatch for drugs/clinical trials and news about KIAA1377 / K1377

    (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 KIAA1377 gene: 
    NM_020802.2  

    Unigene Cluster for KIAA1377:

    KIAA1377
    Hs.156352  [show with all ESTs]
    Unigene Representative Sequence: NM_020802
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263468(uc001pgm.3 uc001pgn.3 uc010run.2) ENST00000532529(uc009yxa.1)
    ENST00000532077 ENST00000537689
    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate KIAA1377
    SwitchGear 3'UTR luciferase reporter plasmidKIAA1377 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KIAA1377
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIAA1377
    Clone
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    GenScript: all cDNA clones in your preferred vector: KIAA1377 (NM_020802)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA1377
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIAA1377
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIAA1377

    Additional mRNA sequence: 

    AB037798.1 AB096255.1 AK095004.1 AK296350.1 AK309479.1 AK310418.1 BC036525.1 BC146807.1 
    BX647415.1 

    7 DOTS entries:

    DT.101980661  DT.106259  DT.91829656  DT.95261474  DT.120727205  DT.97812802  DT.95328036 

    24/64 AceView cDNA sequences (see all 64):

    CA848180 AB037798 AA626870 BU784915 BX095711 AA057365 BQ269935 BU785174 
    AA446891 BF057799 BE218747 T63766 BU950035 CK905943 AI291484 BQ270036 
    CB306881 BQ272264 BU616953 BQ286696 AI797063 AI333269 AI348647 BQ286592 

    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

    KIAA1377 expression in normal human tissues (normalized intensities)      KIAA1377 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA1377 Expression
    About this image


    KIAA1377 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Choroid Plexus
             brain/forebrain/telencephalon   
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   

    See KIAA1377 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1377

    SOURCE GeneReport for Unigene cluster: Hs.156352

    UniProtKB/Swiss-Prot: K1377_HUMAN, Q9P2H0
    Tissue specificity: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary

        SABiosciences Custom PCR Arrays for KIAA1377
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1377

    (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 KIAA1377 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AK1293411 , 5 cDNA sequence AK1293411, 5 76(n)1
    62.29(a)1
      9 (2.46 cM)5
    2349151  NM_001045524.11  NP_001038989.11 
     80766335 
    chicken
    (Gallus gallus)
    Aves KIAA13776
    KIAA1377
    28(a)
    1 ↔ 1
    1(182006300-182042998)
    lizard
    (Anolis carolinensis)
    Reptilia KIAA13776
    Uncharacterized protein
    31(a)
    1 ↔ 1
    3(192509231-192541685)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-3b8.41 si:dkey-3b8.4 42.47(n)
    30.11(a)
      561486  XM_684886.5  XP_689978.5 


    ENSEMBL Gene Tree for KIAA1377 (if available)
    TreeFam Gene Tree for KIAA1377 (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

    10/1563 SNPs in KIAA1377 are shown (see all 1563)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs558548551,2
    C,F--101789375(+) AAAAAC/TGCATA 1 -- int12Minor allele frequency- T:0.33WA CSA 3
    rs1847617961,2
    --101789378(+) AATGCA/GTATGC 1 -- int10--------
    rs1894885001,2
    --101789395(+) TCCTCA/GTATCT 1 -- int10--------
    rs122856711,2
    C,F,H--101789514(+) acttaT/Ccatgt 1 -- int16Minor allele frequency- C:0.02NS EA WA NA 658
    rs1441107571,2
    --101789654(+) TACATC/TACGGG 1 -- int10--------
    rs112250631,2
    C,F,A,H--101789693(+) TCTGGA/GCATAG 1 -- int134Minor allele frequency- G:0.15NA NS EA WA CSA 3520
    rs1486854421,2
    --101789725(+) AGAAAG/TAAAGT 1 -- int10--------
    rs557141481,2
    C,F--101789795(+) TTCATG/AAAGGT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1144740331,2
    C,F--101789832(+) AGAGAA/GACACA 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1422391771,2
    C--101789929(+) CAAGGA/GATTTA 1 -- int10--------

    HapMap Linkage Disequilibrium report for KIAA1377 (101785746 - 101871793 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KIAA1377:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2432654CNV Insertion19546169
    nsv513332CNV Insertion21212237
    esv1725395CNV Insertion17803354
    nsv469989CNV Loss18288195
    nsv832250CNV Gain17160897
    nsv898333CNV Gain21882294


    Human Gene Mutation Database (HGMD): KIAA1377
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1377

    (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
    OMIM gene information: 614634    OMIM disorders: --

    3 diseases for KIAA1377:    About MalaCards
    monomelic amyotrophy    retinitis    schizophrenia


    KIAA1377 for disorders           About GeneDecksing


    Export disorders for KIAA1377 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 KIAA1377 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with KIAA1377)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Exome sequencing identifies KIAA1377 and C5orf42 as s usceptibility genes for monomelic amyotrophy. (PubMed id 22264561)1, 2 Lim Y.M....Kim K.K. (2012)
    3. Protein phosphatase 1g isoforms linked interactions in the brain. (PubMed id 23080069)1 Esteves S.L....da Cruz e Silva E.F. (2013)
    4. Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
    5. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    6. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    7. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    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. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. (PubMed id 15383276)1 Goehler H....Wanker E.E. (2004)

    (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: 57562 HGNC: 29264 AceView: KIAA1377 Ensembl:ENSG00000110318 euGenes: HUgn57562
    ECgene: KIAA1377 H-InvDB: KIAA1377

    (According to HUGE)
    About This Section
    HUGE: KIAA1377

    (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 KIAA1377 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 KIAA1377 gene:
    Search GeneIP for patents involving KIAA1377

    GeneCards and IP:
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    (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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    (GIFtS: 73)
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