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

JAKMIP1 Gene

protein-coding   GIFtS: 50
GCID: GC04M005962

janus kinase and microtubule interacting protein 1
 Explore 2 diseases affiliated with
JAKMIP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for JAKMIP1    

Aliases
for JAKMIP1 gene

(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 11 2     Jak And Microtubule Interacting Protein 12
JAMIP11 2 3     Janus Kinase And Microtubule-Interacting Protein 12
MARLIN11 2 3     Marlin-13
Gababrbp1 2     Multiple Coiled-Coil GABABR1-Binding Protein2
Multiple Alpha-Helices And RNA-Linker Protein 12 3     GABABRBP3
GABA-B Receptor-Binding Protein2 3     Marlin-13
FLJ315641     

External Ids:    HGNC: 264601   Entrez Gene: 1527892   Ensembl: ENSG000001529697   OMIM: 6111955   UniProtKB: Q96N163   

Export aliases for JAKMIP1 gene to outside databases

Previous GC identifer: GC04M006106


Summaries
for JAKMIP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: JKIP1_HUMAN, Q96N16
Function: Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B
receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements




Genomic Views
for JAKMIP1 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_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JAKMIP1 gene promoter:
         AhR   Spz1   AML1a   p300   AP-4   Arnt   AREB6   NF-Y   CBF(2)   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: JAKMIP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for JAKMIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAKMIP1


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

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

JAKMIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAKMIP1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M005962:  view genomic region     (about GC identifiers)

Start:
 6,027,926 bp from pter      End:
 6,202,318 bp from pter
Size:
 174,393 bases      Orientation:
 minus strand

Proteins
for JAKMIP1 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: JKIP1_HUMAN, Q96N16 (See protein sequence)
Recommended Name: Janus kinase and microtubule-interacting protein 1  
Size: 626 amino acids; 73209 Da
Subunit: Homodimer. Forms a complex with GABBR1 and KIF5B/kinesin-1. Interacts with JAK1 and TYK2
Subcellular location: Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Note=Colocalizes with the
microtubule network. Localizes to the cell body and neurites of hippocampal neurons where it accumulates in granules.
Localizes to the tail and to a lower extent to the head of sperm cells
Caution: Was originally (PubMed:14718537) thought to bind single-stranded RNA molecules and regulate GABA-B receptor
expression
Sequence caution: Sequence=BAC05325.1; Type=Erroneous termination; Positions=285; Note=Translated as Arg;
Sequence=BAC05325.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: A6H2J2 A6H2J3 A6H2J4 A6H2J5 A8MTK6 B8ZZR7 D3DVT0 Q86Y69 Q8N7G3
Alternative splicing: 6 isoforms:  Q96N16-1   Q96N16-2   Q96N16-3   Q96N16-4   Q96N16-5   Q96N16-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JAKMIP1: NX_Q96N16

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96N16

    • JAKMIP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001092903.1  NP_653321.1  

    ENSEMBL proteins: 
     ENSP00000386711   ENSP00000387042   ENSP00000282924   ENSP00000422004   ENSP00000386925  
     ENSP00000386745  

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    Uscn Proteins for JAKMIP1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0019898extrinsic to membrane IDA14718537
    GO:0030529ribonucleoprotein complex IDA14718537


    JAKMIP1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for JAKMIP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    JAKMIP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR024836 JAKMIP

    Graphical View of Domain Structure for InterPro Entry Q96N16

    ProtoNet protein and cluster: Q96N16

    UniProtKB/Swiss-Prot: JKIP1_HUMAN, Q96N16
    Similarity: Belongs to the JAKMIP family


    Function
    for JAKMIP1 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
    Function Summary:

         UniProtKB/Swiss-Prot: JKIP1_HUMAN, Q96N16
    Function: Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B
    receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements

    miRNA
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    hsa-miR-3910 hsa-miR-34b* hsa-miR-25 hsa-miR-301a hsa-miR-519a hsa-miR-449a hsa-miR-124 hsa-miR-7-1*
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for JAKMIP1

    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA14718537
    GO:0008017microtubule binding IEA--
    GO:0019894kinesin binding IEA--
    GO:0019900kinase binding IEA--
    GO:0050811GABA receptor binding IDA14718537


    JAKMIP1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for JAKMIP1 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrated Breast Cancer Pathway
    		Integrated Breast Cancer Pathway1.00


    1 BioSystems Pathway for JAKMIP1 
        Integrated Breast Cancer Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JAKMIP1

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

    5/6 Interacting proteins for JAKMIP1 (Q96N163 ENSP000003867114) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TYK2P295973, ENSP000002648184I2D: score=2 STRING: ENSP00000264818
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    GABBR1Q9UBS53, ENSP000003662334I2D: score=2 STRING: ENSP00000366233
    JAK1P234583, ENSP000003432044I2D: score=2 STRING: ENSP00000343204
    NFKB1P198383I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--


    JAKMIP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for JAKMIP1 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 JAKMIP1
    Search CenterWatch for drugs/clinical trials and news about JAKMIP1 / JKIP1 

    Transcripts
    for JAKMIP1 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 JAKMIP1 gene (2 alternative transcripts): 
    NM_001099433.1  NM_144720.3  

    Unigene Cluster for JAKMIP1:

    Janus kinase and microtubule interacting protein 1
    Hs.479066  [show with all ESTs]
    Unigene Representative Sequence: NM_001099433
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409021(uc010idb.1 uc010idd.1) ENST00000409371(uc010idc.1)
    ENST00000282924(uc003giv.4) ENST00000473053(uc010ide.3) ENST00000409831(uc003giu.4 uc011bwc.2)
    ENST00000410077 ENST00000457227

    miRNA
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    hsa-miR-3910 hsa-miR-34b* hsa-miR-25 hsa-miR-301a hsa-miR-519a hsa-miR-449a hsa-miR-124 hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmid: JAKMIP1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for JAKMIP1 (see all 7)
    OriGene shRNA RFP: JAKMIP1
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK056126.1 AK098536.1 AK124718.1 AK294356.1 AK295339.1 AK307983.1 AM412307.1 AM412308.1 
    AM412309.1 AM412310.1 AY382340.1 BC026343.1 BC047075.1 

    6 DOTS entries:

    DT.445810  DT.92020668  DT.101975859  DT.100020164  DT.91977808  DT.95360916 

    24/31 AceView cDNA sequences (see all 31):

    AK056126 BQ639074 AK098536 AL525796 AY382340 BM675261 NM_144720 AW954559 
    BU617552 Z44031 BG705618 AL525757 BP429586 BM695429 R42780 BI668982 
    AW157571 BM689820 BC026343 BC047075 AK124718 BM685608 AW163447 H08055 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for JAKMIP1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
    SP1:        -     -                                                                                 
    SP2:              -                                                                                 
    SP3:                    -     -                                               -                     


    ECgene alternative splicing isoforms for JAKMIP1

    Expression
    for JAKMIP1 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

    JAKMIP1 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

    JAKMIP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See JAKMIP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAKMIP1

    SOURCE GeneReport for Unigene cluster: Hs.479066

    UniProtKB/Swiss-Prot: JKIP1_HUMAN, Q96N16
    Tissue specificity: Predominantly expressed in neural tissues and lymphoid cells (at protein level). Isoform 2, isoform
    3 and isoform 4 are specifically expressed in brain and retina. Isoform 1 and isoform 5 are also detected in liver,
    lung and skeletal muscle. Also detected in testis and to a lower extent spleen and intestine

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    In Situ
    Assay Products:     
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    Orthologs
    for JAKMIP1 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 chordates.

    Orthologs for JAKMIP1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves JAKMIP11 janus kinase and microtubule interacting protein 1 76.24(n)
    84.47(a)    		   422854  XM_420800.3  XP_420800.3 
    lizard
    (Anolis carolinensis)    		 Reptilia JAKMIP16
    		 --
    		 69(a)
    		 1 ↔ 1
    		 5(80450342-80496717)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BX730452.12   -- 74.38(n)    BX730452.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BX005356.16
    CABZ01071913.16
    		 --
    		 66(a)
    59(a)
    		 1 ↔ 1
    possible ortholog
    		 14(15062644-15122006)
    12(43752735-43780750)


    ENSEMBL Gene Tree for JAKMIP1 (if available)
    TreeFam Gene Tree for JAKMIP1 (if available) 

    Paralogs
    for JAKMIP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JAKMIP1 gene
    JAKMIP32  JAKMIP22  
    2 SIMAP similar genes for JAKMIP1 using alignment to 3 protein entries:     JKIP1_HUMAN (see all proteins):
    JAKMIP3    JAKMIP2

    JAKMIP1 for paralogs           About GeneDecksing



    Genomic Variants
    for JAKMIP1 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for JAKMIP1
         3 CNVs: 63730 33963 68643
         3 Indels: 12393 46666 46670
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for JAKMIP1

    Disorders / Diseases
    for JAKMIP1 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
    JAKMIP1 for disorders           About GeneDecksing

    OMIM gene information: 611195    OMIM disorders: --

    2 diseases for JAKMIP1:    About MalaCards
    crohn's disease    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: JAKMIP1 (2 documents)

    Export disorders for JAKMIP1 gene to outside databases

    Publications
    for JAKMIP1 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 JAKMIP1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with JAKMIP1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules. (PubMed id 15277531)1, 2, 9 Steindler C....Pellegrini S. (2004)
    2. Identification and expression analysis of novel Jakmip1 transcripts. (PubMed id 17761393)1, 2, 9 Costa V....Ciccodicola A. (2007)
    3. Jakmip1 is expressed upon T cell differentiation and has an inhibitory function in cytotoxic T lymphocytes. (PubMed id 18941173)1, 3 Libri V....Pellegrini S. (2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Marlin-1, a novel RNA-binding protein associates with GABA receptors. (PubMed id 14718537)1, 2 Couve A.... Moss S.J. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    7. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. (PubMed id 22566498)1 Turner S.T....Boerwinkle E. (2012)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins. (PubMed id 17572408)1 Cruz-Garcia D.... Malagon M.M. (2007)

    External Searches for JAKMIP1 gene

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    Genome Databases showing JAKMIP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 152789 HGNC: 26460 AceView: MARLIN1 Ensembl:ENSG00000152969 euGenes: HUgn152789
    ECgene: JAKMIP1 H-InvDB: JAKMIP1

    Other Databases showing JAKMIP1 gene

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    Specialized Databases showing JAKMIP1 gene

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    PharmGKB entry for JAKMIP1 Pharmacogenomics, SNPs, Pathways

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