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

Gene ID: 152789, updated on 21-Apr-2019

Summary

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
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
Expression
Biased expression in brain (RPKM 7.6), testis (RPKM 1.5) and 4 other tissues See more
Orthologs

Genomic context

See JAKMIP1 in Genome Data Viewer
Location:
4p16.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (6024925..6200591, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6026661..6202318, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene EvC ciliary complex subunit 1 Neighboring gene collapsin response mediator protein 1 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene microRNA 378d-1 Neighboring gene uncharacterized LOC105374364 Neighboring gene long intergenic non-protein coding RNA 2495 Neighboring gene VISTA enhancer hs1979 Neighboring gene wolframin ER transmembrane glycoprotein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31564

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GABA receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
kinase binding IEA
Inferred from Electronic Annotation
more info
 
kinesin binding IEA
Inferred from Electronic Annotation
more info
 
mRNA binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
translation regulator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytoplasmic translation IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
striatum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001099433.1NP_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, DA155551
    Consensus CDS
    CCDS47005.1
    UniProtKB/Swiss-Prot
    Q96N16
    Related
    ENSP00000386711.3, ENST00000409021.8
    Conserved Domains (2) summary
    TIGR01843
    Location:539771
    type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    pfam16034
    Location:416612
    JAKMIP_CC3; JAKMIP CC3 domain
  2. NM_001306133.1NP_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
    Q96N16
    UniProtKB/TrEMBL
    B3KWB6
    Related
    ENSP00000386925.1, ENST00000409831.5
    Conserved Domains (2) summary
    pfam16034
    Location:415604
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:56363
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001306134.1NP_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/Swiss-Prot
    Q96N16
    UniProtKB/TrEMBL
    B3KWB6
    Related
    ENSP00000386745.2, ENST00000410077.2
    Conserved Domains (2) summary
    pfam16034
    Location:250439
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:24256
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_144720.3NP_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, DA155551
    Consensus CDS
    CCDS3385.1
    UniProtKB/Swiss-Prot
    Q96N16
    Related
    ENSP00000282924.5, ENST00000282924.9
    Conserved Domains (2) summary
    pfam16034
    Location:415604
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:56363
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    6024925..6200591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007799.1XP_016863288.1  janus kinase and microtubule-interacting protein 1 isoform X11

    Related
    ENSP00000387042.3, ENST00000409371.8
  2. XM_017007793.1XP_016863282.1  janus kinase and microtubule-interacting protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q96N16
    Conserved Domains (2) summary
    TIGR01843
    Location:539771
    type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    pfam16034
    Location:416612
    JAKMIP_CC3; JAKMIP CC3 domain
  3. XM_017007792.1XP_016863281.1  janus kinase and microtubule-interacting protein 1 isoform X3

  4. XM_017007797.1XP_016863286.1  janus kinase and microtubule-interacting protein 1 isoform X8

  5. XM_017007795.1XP_016863284.1  janus kinase and microtubule-interacting protein 1 isoform X6

  6. XM_017007791.1XP_016863280.1  janus kinase and microtubule-interacting protein 1 isoform X2

  7. XM_017007794.1XP_016863283.1  janus kinase and microtubule-interacting protein 1 isoform X5

  8. XM_017007788.1XP_016863277.1  janus kinase and microtubule-interacting protein 1 isoform X1

  9. XM_017007798.1XP_016863287.1  janus kinase and microtubule-interacting protein 1 isoform X8

  10. XM_017007789.1XP_016863278.1  janus kinase and microtubule-interacting protein 1 isoform X1

  11. XM_017007790.1XP_016863279.1  janus kinase and microtubule-interacting protein 1 isoform X1

  12. XM_017007796.1XP_016863285.1  janus kinase and microtubule-interacting protein 1 isoform X7

  13. XM_011513400.2XP_011511702.1  janus kinase and microtubule-interacting protein 1 isoform X10

    See identical proteins and their annotated locations for XP_011511702.1

    UniProtKB/Swiss-Prot
    Q96N16
    Conserved Domains (2) summary
    pfam16034
    Location:250439
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:24256
    SMC_N; RecF/RecN/SMC N terminal domain
  14. XM_024453911.1XP_024309679.1  janus kinase and microtubule-interacting protein 1 isoform X9

    Conserved Domains (2) summary
    pfam16034
    Location:415604
    JAKMIP_CC3; JAKMIP CC3 domain
    cl25732
    Location:56363
    SMC_N; RecF/RecN/SMC N terminal domain
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