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

Gene ID: 152789, updated on 8-May-2016
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 HPRD:11292; MIM:611195; Vega:OTTHUMG00000125491
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
Orthologs
Location:
4p16.1
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (6026199..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 microRNA 378d-1 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene golgin subfamily A member 6-like protein 22 Neighboring gene uncharacterized LOC105374364 Neighboring gene uncharacterized LOC285484 Neighboring gene wolframin ER transmembrane glycoprotein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport 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 
intracellular ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
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

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, OTTHUMP00000203209, ENST00000409021, OTTHUMT00000329747
    Conserved Domains (1) summary
    TIGR01843
    Location:539771
    type_I_hlyD; type I secretion membrane fusion protein, HlyD family
  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
    Conserved Domains (1) summary
    cl07893
    Location:141220
    AmyAc_family; Alpha amylase catalytic domain family
  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
    Conserved Domains (1) summary
    COG1196
    Location:24256
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  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, OTTHUMP00000155144, ENST00000282924, OTTHUMT00000246816
    Conserved Domains (1) summary
    cl07893
    Location:141220
    AmyAc_family; Alpha amylase catalytic domain family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    6026199..6200591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513400.1XP_011511702.1  

    See identical proteins and their annotated locations for XP_011511702.1

    UniProtKB/Swiss-Prot
    Q96N16
    Conserved Domains (1) summary
    COG1196
    Location:24256
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. XM_011513401.1XP_011511703.1  

    Related
    ENSP00000386745, OTTHUMP00000217225, ENST00000410077, OTTHUMT00000358648
    Conserved Domains (1) summary
    COG1196
    Location:24256
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  3. XM_011513399.1XP_011511701.1  

    Related
    ENSP00000386925, OTTHUMP00000203212, ENST00000409831, OTTHUMT00000329750
    Conserved Domains (1) summary
    cl07893
    Location:141220
    AmyAc_family; Alpha amylase catalytic domain family

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    6025980..6199980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)