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    JAKMIP1 janus kinase and microtubule interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 152789, updated on 28-Oct-2024

    Summary

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    Official Symbol
    JAKMIP1provided by HGNC
    Official Full Name
    janus kinase and microtubule interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:26460
    See related
    Ensembl:ENSG00000152969 MIM:611195; AllianceGenome:HGNC:26460
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JAMIP1; MARLIN1; Gababrbp
    Summary
    Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in brain (RPKM 7.6), testis (RPKM 1.5) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JAKMIP1 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6026199..6200549, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (5999090..6174505, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6027926..6202276, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene EvC ciliary complex subunit 1 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5876470-5876991 Neighboring gene collapsin response mediator protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888332-5888859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888860-5889386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5891930-5892674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5892675-5893418 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:5914348-5914973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5923869-5924368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5926351-5926851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5932940-5933440 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5947182-5947682 Neighboring gene microRNA 378d-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5957977-5958528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5972715-5973525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975147-5975708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975709-5976269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5995614-5996166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5996167-5996718 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:6050907-6052106 Neighboring gene uncharacterized LOC128125818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6071730-6072660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6073591-6074520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6087461-6088334 Neighboring gene NANOG hESC enhancer GRCh37_chr4:6089664-6090166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6093535-6094036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6107415-6107947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6118271-6118786 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:6118787-6119302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6119819-6120334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6142439-6142940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6192917-6193537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21258 Neighboring gene JAKMIP1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6247680-6248310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6264593-6265371 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:6266160-6267359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6274585-6275134 Neighboring gene VISTA enhancer hs1979 Neighboring gene wolframin ER transmembrane glycoprotein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Jakmip1 is expressed upon T cell differentiation and has an inhibitory function in cytotoxic T lymphocytes. Libri V, et al. J Immunol, 2008 Nov 1. PMID 18941173
    2. Overexpression of JAKMIP1 associates with Wnt/β-catenin pathway activation and promotes cancer cell proliferation in vitro. Okai I, et al. Biomed Pharmacother, 2013 Apr. PMID 23481296
    3. Identification and expression analysis of novel Jakmip1 transcripts. Costa V, et al. Gene, 2007 Nov 1. PMID 17761393
    4. Jamip1 (marlin-1) defines a family of proteins interacting with janus kinases and microtubules. Steindler C, et al. J Biol Chem, 2004 Oct 8. PMID 15277531
    5. Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins. Cruz-Garcia D, et al. FEBS Lett, 2007 Jul 10. PMID 17572408

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. JAKMIP1 associates with and possibly contributes to the Wnt/beta-catenin pathway activity through its influence on downstream Wnt target proteins, including beta-catenin.
      Title: Overexpression of JAKMIP1 associates with Wnt/β-catenin pathway activation and promotes cancer cell proliferation in vitro.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Jakmip1 is a novel effector memory gene that restrains T cell-mediated cytotoxicity.
      Title: Jakmip1 is expressed upon T cell differentiation and has an inhibitory function in cytotoxic T lymphocytes.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
    5. We have identified four new transcripts of 2975 bp, 1743 bp, 2189 bp and 2420 bp respectively, named Jakmip1B, Jakmip1C, Jakmip1D and Jakmip1E
      Title: Identification and expression analysis of novel Jakmip1 transcripts.
    6. Marlin-1 functions to regulate the cellular levels of GABA(B) R2 subunits, which may have significant effects on the production of functional GABA(B) receptor heterodimers
      Title: Marlin-1, a novel RNA-binding protein associates with GABA receptors.
    7. Marlin1 has a role in cell polarization, segregation of signaling complexes, and vesicle traffic, some of which may involve Jak tyrosine kinases
      Title: Jamip1 (marlin-1) defines a family of proteins interacting with janus kinases and microtubules.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31564

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GABA receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    janus kinase and microtubule-interacting protein 1
    Names
    GABA-B receptor-binding protein
    Jak and microtubule interacting protein 1
    marlin-1
    multiple alpha-helices and RNA-linker protein 1
    multiple coiled-coil GABABR1-binding protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001099433.2 → NP_001092903.1  janus kinase and microtubule-interacting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001092903.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AM412307
      Consensus CDS
      CCDS47005.1
      UniProtKB/Swiss-Prot
      Q96N16
      Related
      ENSP00000386711.3, ENST00000409021.9
      Conserved Domains (2) summary
      TIGR01843
      Location:539 → 771
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
      pfam16034
      Location:416 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    2. NM_001306133.2 → NP_001293062.1  janus kinase and microtubule-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001293062.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences that result in distinct 5' and 3' UTRs and a novel 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than and has a novel C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AK124718, AK295339, AM412310, BM714077
      Consensus CDS
      CCDS3385.1
      UniProtKB/Swiss-Prot
      A6H2J2, A6H2J3, A6H2J4, A6H2J5, A8MTK6, B4DHZ8, B8ZZR7, D3DVT0, Q86Y69, Q8N7G3, Q96N16
      UniProtKB/TrEMBL
      A0A8V8TQE7
      Related
      ENSP00000386925.1, ENST00000409831.5
      Conserved Domains (2) summary
      pfam16034
      Location:415 → 604
      JAKMIP_CC3; JAKMIP CC3 domain
      cl25732
      Location:56 → 363
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001306134.2 → NP_001293063.1  janus kinase and microtubule-interacting protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001293063.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences that result in distinct 5' and 3' UTRs and a novel 3' coding region compared to variant 1. It encodes isoform 3, which is shorter than and has a novel C-terminus compared to isoform 1.
      Source sequence(s)
      AK124718, AK295339, BM714077
      Consensus CDS
      CCDS77897.1
      UniProtKB/TrEMBL
      B4DG10
      Related
      ENSP00000386745.2, ENST00000410077.2
      Conserved Domains (2) summary
      pfam16034
      Location:250 → 439
      JAKMIP_CC3; JAKMIP CC3 domain
      cl25732
      Location:24 → 256
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_144720.4 → NP_653321.1  janus kinase and microtubule-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_653321.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several 3' coding exons compared to variant 1, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and distinct 3' UTR compared to variant 1. It encodes isoform 2, which is shorter than and has a novel C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AK056126, AW157571
      Consensus CDS
      CCDS3385.1
      UniProtKB/Swiss-Prot
      A6H2J2, A6H2J3, A6H2J4, A6H2J5, A8MTK6, B4DHZ8, B8ZZR7, D3DVT0, Q86Y69, Q8N7G3, Q96N16
      UniProtKB/TrEMBL
      A0A8V8TQE7
      Related
      ENSP00000282924.5, ENST00000282924.9
      Conserved Domains (2) summary
      pfam16034
      Location:415 → 604
      JAKMIP_CC3; JAKMIP CC3 domain
      cl25732
      Location:56 → 363
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      6026199..6200549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      5999090..6174505 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96N16.1 GenPept UniProtKB/Swiss-Prot:Q96N16

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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