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

Gene ID: 152789, updated on 5-Mar-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. Is extrinsic component of membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 7.6), testis (RPKM 1.5) and 4 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6026199..6200549, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (5999090..6174505, complement)
105.20220307 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
  • 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. 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
  2. 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
  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. Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. Raelson JV, et al. Proc Natl Acad Sci U S A, 2007 Sep 11. PMID 17804789, Free PMC Article

See all (31) 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

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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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_2023_10

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

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