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

JAKMIP3 Gene

protein-coding   GIFtS: 44
GCID: GC10P133918

Janus kinase and microtubule interacting protein 3

(Previous names: chromosome 10 open reading frame 39, chromosome 10 open...)
(Previous symbols: C10orf39, C10orf14)
 Explore 2 diseases affiliated with
JAKMIP3 via our new
 Human Malady Compendium 
Biological research products
for JAKMIP3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Janus Kinase And Microtubule Interacting Protein 31 2     KIAA40911
C10orf141 2 3     Chromosome 10 Open Reading Frame 141
C10orf391 2 3     Chromosome 10 Open Reading Frame 391
NECC21 2 3     Jamip32
BA140A10.51     Janus Kinase And Microtubule-Interacting Protein 32
Neuroendocrine Long Coiled-Coil Protein 22 3     Neuroendocrine Long Coiled-Coil 22
FLJ378571     JAMIP33

External Ids:    HGNC: 235231   Entrez Gene: 2829732   Ensembl: ENSG000001883857   OMIM: 6111985   UniProtKB: Q5VZ663   

Export aliases for JAKMIP3 gene to outside databases

Previous GC identifers: GC10P133769 GC10P127467


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

  --

(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_000010.10  NC_018921.1  NT_008818.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JAKMIP3 gene promoter:
         GR   GR-beta   POU3F2 (N-Oct-5b)   HNF-4alpha2   HNF-4alpha1   RORalpha2   AREB6   COMP1   GR-alpha   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for JAKMIP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAKMIP3


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

Entrez Gene cytogenetic band: 10q26.3   Ensembl cytogenetic band:  10q26.3   HGNC cytogenetic band: 10q26.3

JAKMIP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAKMIP3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P133918:  view genomic region     (about GC identifiers)

Start:
133,918,175 bp from pter      End:
133,998,313 bp from pter
Size:
80,139 bases      Orientation:
plus strand

(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: JKIP3_HUMAN, Q5VZ66 (See protein sequence)
Recommended Name: Janus kinase and microtubule-interacting protein 3  
Size: 844 amino acids; 98529 Da
Subcellular location: Golgi apparatus (By similarity)
Sequence caution: Sequence=BAC86766.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH10388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAH10388.1;
Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: A6PW00 Q69YM6 Q6ZT29
Alternative splicing: 2 isoforms:  Q5VZ66-1   Q5VZ66-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JAKMIP3: NX_Q5VZ66

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VZ66

  • JAKMIP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001098991.1  
    ENSEMBL proteins: 
     ENSP00000298622  

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    Uscn Proteins for JAKMIP3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--


    JAKMIP3 for ontologies           About GeneDecksing



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

    JAKMIP3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR024836 JAKMIP

    Graphical View of Domain Structure for InterPro Entry Q5VZ66

    ProtoNet protein and cluster: Q5VZ66

    UniProtKB/Swiss-Prot: JKIP3_HUMAN, Q5VZ66
    Similarity: Belongs to the JAKMIP family


    (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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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008017microtubule binding IEA--
    GO:0019900kinase binding IEA--


    JAKMIP3 for ontologies           About GeneDecksing



    (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 JAKMIP3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for JAKMIP3 (ENSP000002986224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JAK2ENSP000003710674STRING: ENSP00000371067
    JAK3ENSP000003916764STRING: ENSP00000391676
    About this table

    (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 JAKMIP3
    Search CenterWatch for drugs/clinical trials and news about JAKMIP3 / JKIP3 

    (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,
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    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 JAKMIP3 gene (3 alternative transcripts): 
    NM_001105521.2  NM_001104947.1  NM_194303.1  

    Unigene Cluster for JAKMIP3:

    Janus kinase and microtubule interacting protein 3
    Hs.106254  [show with all ESTs]
    Unigene Representative Sequence: NM_001105521
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298622(uc001lkx.4) ENST00000477275(uc009yba.1 uc001lky.2)


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    hsa-miR-124* hsa-miR-330-5p hsa-miR-429 hsa-miR-30d hsa-miR-218 hsa-miR-30a hsa-miR-124 hsa-miR-326
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    Clone
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    Additional cDNA sequence: 

    AK095176.1 AK097818.1 AL137551.1 BC045170.2 

    6 DOTS entries:

    DT.91836755  DT.101977770  DT.406922  DT.99930444  DT.121221343  DT.121221354 

    16 AceView cDNA sequences:

    AL137551 NM_194303 AK126964 AK097818 AI018214 BG699792 BC045170 AK123426 
    AK095176 BF060906 AL832756 BU726775 R20220 R36918 R43308 BQ071550 

    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

    JAKMIP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTAAGCAGTA

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

    About this image
    See JAKMIP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAKMIP3

    SOURCE GeneReport for Unigene cluster: Hs.106254

    UniProtKB/Swiss-Prot: JKIP3_HUMAN, Q5VZ66
    Tissue specificity: Specifically expressed in the CNS and endocrine tissues. Also detected in other tissues including
    heart, testis and prostate

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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 chordates.

    Orthologs for JAKMIP3 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves JAKMIP31 Janus kinase and microtubule interacting protein 3 82.1(n)
    89.88(a)
      428991  XM_426548.3  XP_426548.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    89(a)
    85(a)
    1 ↔ many
    1 ↔ many
    3(57983536-58018819)
    3(57956459-57964423)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003342131 janus kinase and microtubule-interacting protein 3-like 73.25(n)
    78.97(a)
      100334213  XM_002664051.2  XP_002664097.2 


    ENSEMBL Gene Tree for JAKMIP3 (if available)
    TreeFam Gene Tree for JAKMIP3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JAKMIP3 gene
    JAKMIP12  JAKMIP22  
    2 SIMAP similar genes for JAKMIP3 using alignment to 1 protein entry:     JKIP3_HUMAN:
    JAKMIP1    JAKMIP2

    JAKMIP3 for paralogs           About GeneDecksing



    (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

    10/2273 NCBI SNPs in JAKMIP3 are shown (see all 2273    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs679018901,2
    C,F,--133916361(+) GGCTGG/CAGACA 1 -- us2k13Minor allele frequency- C:0.21NA 124
    rs111461731,2
    H--133916373(+) ATGCAG/CGAGTA 1 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs1868312821,2
    --133916380(+) AGTAGC/GGGGGG 1 -- us2k10--------
    rs8798091,2
    C,--133916381(-) TCCCCC/ACCTAC 1 -- us2k1 trp34Minor allele frequency- A:0.09NA WA EA 360
    rs677376371,2
    C,F,--133916405(+) CAGGCC/TGGAGA 1 -- us2k16Minor allele frequency- T:0.18NA WA EA 364
    rs714800301,2
    C,F,--133916457(+) GAGACG/ACGGGC 1 -- us2k16Minor allele frequency- A:0.18NA WA EA 364
    rs94191921,2
    C,F,A,--133916477(+) GGGGAA/TGTGTT 1 -- us2k19Minor allele frequency- T:0.27NA WA CSA EA 370
    rs94191931,2
    C,F,A,H,--133916500(+) AGATGG/CGGGCG 1 -- us2k110Minor allele frequency- C:0.45NA WA CSA EA 374
    rs1475595391,2
    --133916570(+) TTCACC/TGGGAA 1 -- us2k10--------
    rs1127841861,2
    C,--133916571(+) TCACCG/AGGAAA 1 -- us2k12Minor allele frequency- A:0.03CSA WA 120

    HapMap Linkage Disequilibrium report for JAKMIP3 (133918175 - 133998313 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for JAKMIP3
         2 CNVs: 4717 71168
         7 Indels: 85544 75439 85543 75440 42626 44695 101088

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    (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

    JAKMIP3 for disorders           About GeneDecksing

    OMIM gene information: 611198    OMIM disorders: --

    2 diseases for JAKMIP3:    About MalaCards
    alzheimer's disease    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: JAKMIP3 (1 document)

    Export disorders for JAKMIP3 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 JAKMIP3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with JAKMIP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins. (PubMed id 17572408)1, 2, 3 Cruz-Garcia D.... Malagon M.M. (2007)
    2. Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules. (PubMed id 15277531)1, 3 Steindler C....Pellegrini S. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    8. 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: 282973 HGNC: 23523 AceView: C10orf39 Ensembl:ENSG00000188385 euGenes: HUgn282973
    ECgene: JAKMIP3 H-InvDB: JAKMIP3

    (According to HUGE)
    About This Section
    HUGE: KIAA4091

    (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 JAKMIP3 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 JAKMIP3 gene:
    Search GeneIP for patents involving JAKMIP3

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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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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