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

KIAA1244 Gene

protein-coding   GIFtS: 44
GCID: GC06P138569

KIAA1244

(Previous name: chromosome 6 open reading frame 92 )
(Previous symbol: C6orf92)
  Search for KIAA1244
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KIAA1244    

Aliases
for KIAA1244 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
KIAA12441 2     Chromosome 6 Open Reading Frame 921
BIG31 2 3     A73222
C6orf921 2 3     ARFGEF32
PPP1R331 2     Brefeldin A-Inhibited Guanine Nucleotide-Exchange Protein 32
DJ171N11.11     Protein Phosphatase 1, Regulatory Subunit 332

External Ids:    HGNC: 212131   Entrez Gene: 572212   Ensembl: ENSG000001123797   UniProtKB: Q5TH693   

Export aliases for KIAA1244 gene to outside databases

Previous GC identifers: GC06P138199 GC06P138423 GC06P138557 GC06P138508 GC06P136044


Summaries
for KIAA1244 gene

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

Genomic Views
for KIAA1244 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1244 gene promoter:
         Bach1   Pbx1a   FOXO3   Pax-2a   Cdc5   Gfi-1   FOXO3b   AREB6   Pax-2b   FOXO3a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIAA1244

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1244


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

Entrez Gene cytogenetic band: 6q23.3   Ensembl cytogenetic band:  6q23.3   HGNC cytogenetic band: 6q23.3

KIAA1244 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1244 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P138569:  view genomic region     (about GC identifiers)

Start:
 138,483,053 bp from pter      End:
 138,665,800 bp from pter
Size:
 182,748 bases      Orientation:
 plus strand

Proteins
for KIAA1244 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: BIG3_HUMAN, Q5TH69 (See protein sequence)
Recommended Name: Brefeldin A-inhibited guanine nucleotide-exchange protein 3  
Size: 2177 amino acids; 240652 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q76MU8 Q8N4Y4 Q96CH9 Q96P46 Q9ULH6

Explore the universe of human proteins at neXtProt for KIAA1244: NX_Q5TH69

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5TH69

    • KIAA1244 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065073.3  
    ENSEMBL proteins: 
     ENSP00000251691  

    Human Recombinant Protein Products: 
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    Uscn Proteins for KIAA1244

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005802trans-Golgi network IBA--
    GO:0016021integral to membrane IEA--


    KIAA1244 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KIAA1244 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KIAA1244 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000904 Sec7
     IPR015403 DUF1981_SEC7_assoc

    Graphical View of Domain Structure for InterPro Entry Q5TH69

    ProtoNet protein and cluster: Q5TH69

    UniProtKB/Swiss-Prot: BIG3_HUMAN, Q5TH69
    Similarity: Contains 1 SEC7 domain


    Function
    for KIAA1244 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    hsa-miR-100* hsa-miR-642a hsa-miR-30d hsa-miR-877* hsa-miR-3161 hsa-miR-30a hsa-miR-4289 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmid: KIAA1244 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005086ARF guanyl-nucleotide exchange factor activity IBA--


    KIAA1244 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for KIAA1244:
     G0/1 arrest  Increased G1 DNA content 


    Pathways & Interactions
    for KIAA1244 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA1244

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for KIAA1244 (ENSP000002516914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1ENSP000003490764STRING: ENSP00000349076
    MBIPENSP000003244444STRING: ENSP00000324444
    PPP1CAENSP000003260314STRING: ENSP00000326031
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010923negative regulation of phosphatase activity IDA19389623
    GO:0016192vesicle-mediated transport IBA--
    GO:0032012regulation of ARF protein signal transduction IEA--


    KIAA1244 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KIAA1244 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 KIAA1244
    Search CenterWatch for drugs/clinical trials and news about KIAA1244 / BIG3 

    Transcripts
    for KIAA1244 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KIAA1244 gene: 
    NM_020340.4  

    Unigene Cluster for KIAA1244:

    KIAA1244
    Hs.194408  [show with all ESTs]
    Unigene Representative Sequence: NM_020340
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000251691(uc003qhu.3)

    miRNA
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    hsa-miR-100* hsa-miR-642a hsa-miR-30d hsa-miR-877* hsa-miR-3161 hsa-miR-30a hsa-miR-4289 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmid: KIAA1244 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB033070.2 AB252196.1 AF413080.1 AK000682.1 AK021955.1 AK056626.1 AK124312.1 BC022980.1 
    BC137174.1 BX640863.1 

    9 DOTS entries:

    DT.423255  DT.109797  DT.100763959  DT.101979614  DT.435539  DT.121342486  DT.97840852  DT.121362400 
    DT.91923896 

    24/159 AceView cDNA sequences (see all 159):

    AI457321 BC022980 BU078679 CA944907 BQ271087 AA418685 BU682567 BM142118 
    BQ631237 AK124312 CK819904 AK056626 BG149908 BE348567 BM141826 CB117952 
    BI712057 BM263410 AB033070 BX108434 BX506014 AA587421 CD657531 AA826491 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1244    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                              -           -                       -                                                         
    SP2:                                                              -           -                                                                                 
    SP3:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30
    SP1:                                                
    SP2:                                                
    SP3:                                                


    ECgene alternative splicing isoforms for KIAA1244

    Expression
    for KIAA1244 gene

    (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

    KIAA1244 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KIAA1244 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    See KIAA1244 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1244

    SOURCE GeneReport for Unigene cluster: Hs.194408
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    In Situ
    Assay Products:     
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    Orthologs
    for KIAA1244 gene

    (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.

    Orthologs for KIAA1244 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia D10Bwg1379e1 , 5 DNA segment, Chr 10, Brigham & Women's Genetics 1379 more1, 5 86.58(n)1
    93.27(a)1    		   10 (7.79 cM)5
    2158211  NM_001033258.41  NP_001028430.11 
     185880115 
    chicken
    (Gallus gallus)    		 Aves KIAA12441 KIAA1244 77.8(n)
    84.98(a)    		   421681  XM_419718.3  XP_419718.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 88(a)
    82(a)
    		 many → 1
    many → 1
    		 GL343200.1(1364539-1366876)
    GL343200.1(1400614-1428593)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5626521 brefeldin A-inhibited guanine nucleotide-exchange protein more 69.26(n)
    74.03(a)    		   562652  XM_001921322.3  XP_001921357.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG59371 , 3 CG59371 29(a)3
    45.8(n)1
    33.5(a)1    		   315371  NM_001103418.21  NP_001096888.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea CELE_Y106G6G.21 Protein Y106G6G.2 41.34(n)
    27.7(a)    		   172898  NM_060300.2  NP_492701.2 


    ENSEMBL Gene Tree for KIAA1244 (if available)
    TreeFam Gene Tree for KIAA1244 (if available) 

    Paralogs
    for KIAA1244 gene

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

    Genomic Variants
    for KIAA1244 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3450 NCBI SNPs in KIAA1244 are shown (see all 3450)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs119674141,2
    		C,H,--136098496(+) TTGTTG/TTTTTT 1 -- ds5001 trp31Minor allele frequency- T:0.00CSA 1
    rs119674421,2
    		C,H,--136098637(+) AGGCAC/TGTGCC 1 -- ut310--------
    rs1171042741,2
    		C,F,--136099316(+) GTGTCG/ATTGTT 1 -- ut311Minor allele frequency- A:0.03NA 120
    rs412897691,2
    		C,F,--136100044(+) TCCATT/CACACA 1 -- ut311Minor allele frequency- C:0.04NA 120
    rs69269811,2
    		C,F,H,--136100161(+) CCTAGC/TGGAGC 1 -- ut3112Minor allele frequency- T:0.06NS EA NA WA CSA 1482
    rs107112441,2
    		C,--136100241(+) GGTAG-/TTTTTA 1 -- ut310--------
    rs774353581,2
    		F,--136101589(+) AGCCAA/GTTACC 1 -- us2k11Minor allele frequency- G:0.08WA 118
    rs793067941,2
    		C,--136101636(+) AGAGTT/GCAGGA 1 -- us2k12Minor allele frequency- G:0.02CSA WA 120
    rs737746891,2
    		C,--136101764(+) AGGGCA/GTTCTT 1 -- us2k12Minor allele frequency- G:0.05WA 120
    rs170672631,2
    		C,F,--136102114(+) GCAGAA/GTAAGG 1 -- us2k15Minor allele frequency- G:0.02NA 264

    HapMap Linkage Disequilibrium report for KIAA1244 (138483053 - 138665800 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KIAA1244: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA1244
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1244

    Disorders / Diseases
    for KIAA1244 gene

    (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.)
    About This Section
    		   --

    Publications
    for KIAA1244 gene

    (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 KIAA1244 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with KIAA1244)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    4. Activation of an estrogen/estrogen receptor signaling by BIG3 through its inhibitory effect on nuclear transport of PHB2/REA in brea st cancer. (PubMed id 19496786)1 Kim J.W....Katagiri T. (2009)
    5. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)1 Hendrickx A.... Bollen M. (2009)
    6. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    10. 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)

    External Searches for KIAA1244 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing KIAA1244 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57221 HGNC: 21213 AceView: KIAA1244 Ensembl:ENSG00000112379 euGenes: HUgn57221
    ECgene: KIAA1244 H-InvDB: KIAA1244

    Other Databases showing KIAA1244 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1244

    Specialized Databases showing KIAA1244 gene

    (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 KIAA1244 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KIAA1244 gene

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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KIAA1244 gene:
    Search GeneIP for patents involving KIAA1244

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