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JAKMIP3 Gene

protein-coding   GIFtS: 47
GCID: GC10P133918

Janus Kinase And Microtubule Interacting Protein 3

(Previous names: chromosome 10 open reading frame 39, chromosome 10 open...)
(Previous symbols: C10orf39, C10orf14)
Alzheimer's & Parkinson's Diseases Congress
  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)
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Aliases
Janus Kinase And Microtubule Interacting Protein 31 2     JAMIP33 5
C10orf391 2 3 5     Chromosome 10 Open Reading Frame 141
C10orf141 2 3     Chromosome 10 Open Reading Frame 391
NECC22 3 5     Jamip32
Neuroendocrine Long Coiled-Coil 21 2     bA140A10.52
Neuroendocrine Long Coiled-Coil Protein 22 3     Janus Kinase And Microtubule-Interacting Protein 32

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for JAKMIP3 Gene:
JAKMIP3 (Janus kinase and microtubule interacting protein 3) is a protein-coding gene. Diseases associated with JAKMIP3 include breast and colorectal cancer, and alzheimer's disease. GO annotations related to this gene include microtubule binding and kinase binding. An important paralog of this gene is JAKMIP1.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for JAKMIP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: JKIP3_HUMAN, Q5VZ66 (See protein sequence)
Recommended Name: Janus kinase and microtubule-interacting protein 3  
Size: 844 amino acids; 98529 Da
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

Explore proteomics data for JAKMIP3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JAKMIP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001098991.1  
    ENSEMBL proteins: 
     ENSP00000298622  

    JAKMIP3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     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


    JAKMIP3 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008017microtubule binding IEA--
    GO:0019900kinase binding IEA--
         
    JAKMIP3 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target JAKMIP3:
    hsa-mir-335-5p (MIRT017302)

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    Selected qRT-PCR Assays for microRNAs that regulate JAKMIP3 (see all 50):
    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAKMIP3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    JKIP3_HUMAN, Q5VZ66: Golgi apparatus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    golgi apparatus2
    nucleus2
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    JAKMIP3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JAKMIP3
    Interactions:

        Search GeneGlobe Interaction Network 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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for JAKMIP3 (JKIP3)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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)


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate JAKMIP3 (see all 50):
    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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiFast Probe-based Assays in human, mouse, rat JAKMIP3

    Additional mRNA 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:

    AK097818 NM_194303 AK126964 AL137551 BG699792 BF060906 AK095176 BC045170 
    AI018214 AL832756 AK123426 R20220 BU726775 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JAKMIP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAGCAGTA
    JAKMIP3 Expression
    About this image


    JAKMIP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    JAKMIP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JAKMIP3 Protein Expression

    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for JAKMIP3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jakmip31 , 5 janus kinase and microtubule interacting protein 31, 5 87.32(n)1
    94.41(a)1
      7 (83.00 cM)5
    740041  NM_028708.21  NP_082984.11 
     1389407505 
    chicken
    (Gallus gallus)
    Aves JAKMIP31 Janus kinase and microtubule interacting protein 3 81.97(n)
    89.62(a)
      428991  XM_004942365.1  XP_004942422.1 
    lizard
    (Anolis carolinensis)
    Reptilia JAKMIP36
    Janus kinase and microtubule interacting protein 3...
    89(a)
    1 ↔ 1
    3(57880239-58018819)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia jakmip31 Janus kinase and microtubule interacting protein 3 76.41(n)
    84.12(a)
      100496365  XM_002932656.2  XP_002932702.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003342131 janus kinase and microtubule-interacting protein 3-like 72.92(n)
    78.24(a)
      100334213  XM_005172974.1  XP_005173031.1 


    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)
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    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, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for JAKMIP3 (see all 2916)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0394734
    A breast cancer sample4--see VAR_0394732 R G mis40--------
    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
    C--133916570(+) TTCACC/TGGGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for JAKMIP3 (133918175 - 133998313 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for JAKMIP3 (see all 47):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2743614CNV Deletion23290073
    esv1281400CNV Deletion17803354
    esv2743611CNV Deletion23290073
    esv2743617CNV Deletion23290073
    esv2743612CNV Deletion23290073
    esv2656970CNV Deletion23128226
    esv2743616CNV Deletion23290073
    esv2674885CNV Deletion23128226
    esv2743625CNV Deletion23290073
    esv996010CNV Deletion20482838

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 611198    OMIM disorders: --

    5 diseases for JAKMIP3:    
    About MalaCards
    breast and colorectal cancer    alzheimer's disease    colorectal cancer    prostatitis
    endotheliitis


    JAKMIP3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): JAKMIP3
    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)
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    PubMed articles for JAKMIP3 gene integrated from 10 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. (FEBS Lett. 2007)
    2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    3. Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules. (PubMed id 15277531)1, 3 Steindler C....Pellegrini S. (J. Biol. Chem. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    6. Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. (PubMed id 23144326)1 Kim D.K....Silverman E.K. (Am. J. Respir. Crit. Care Med. 2012)
    7. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    9. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 282973 HGNC: 23523 AceView: C10orf39 Ensembl:ENSG00000188385 euGenes: HUgn282973
    ECgene: JAKMIP3 H-InvDB: JAKMIP3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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