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    Jakmip1 janus kinase and microtubule interacting protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 76071, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Jakmip1provided by MGI
    Official Full Name
    janus kinase and microtubule interacting protein 1provided by MGI
    Primary source
    MGI:MGI:1923321
    See related
    Ensembl:ENSMUSG00000063646 AllianceGenome:MGI:1923321
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gababrbp; Marlin-1; 5830437M04Rik; C330021K24Rik
    Summary
    Enables kinesin binding activity. Predicted to be involved in cognition. Predicted to be located in membrane and microtubule cytoskeleton. Predicted to be part of ribonucleoprotein complex. Is expressed in cortical plate and embryo. Used to study autism spectrum disorder. Orthologous to human JAKMIP1 (janus kinase and microtubule interacting protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cortex adult (RPKM 6.5), CNS E18 (RPKM 6.0) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Jakmip1 in Genome Data Viewer
    Location:
    5 B3; 5 19.66 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (37182424..37307958)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (37025852..37150614)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2, regulatory subunit B, gamma Neighboring gene STARR-seq mESC enhancer starr_12890 Neighboring gene predicted gene, 52813 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:37370903-37371090 Neighboring gene STARR-positive B cell enhancer ABC_E6324 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:37380607-37380790 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:37389242-37389505 Neighboring gene STARR-seq mESC enhancer starr_12893 Neighboring gene wolframin ER transmembrane glycoprotein Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:37436048-37436298 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:37438571-37438789 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:37442129-37442330 Neighboring gene STARR-seq mESC enhancer starr_12898 Neighboring gene isocitrate dehydrogenase 3 (NAD+) beta pseudogene Neighboring gene predicted gene 1043 Neighboring gene STARR-seq mESC enhancer starr_12900 Neighboring gene collapsin response mediator protein 1 Neighboring gene EvC ciliary complex subunit 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Cellular and subcellular localization of Marlin-1 in the brain. Vidal RL, et al. BMC Neurosci, 2009 Apr 22. PMID 19386132, Free PMC Article
    2. Identification and expression analysis of novel Jakmip1 transcripts. Costa V, et al. Gene, 2007 Nov 1. PMID 17761393
    3. Marlin-1, a novel RNA-binding protein associates with GABA receptors. Couve A, et al. J Biol Chem, 2004 Apr 2. PMID 14718537
    4. Marlin-1 and conventional kinesin link GABAB receptors to the cytoskeleton and regulate receptor transport. Vidal RL, et al. Mol Cell Neurosci, 2007 Jul. PMID 17532644
    5. JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse. Berg JM, et al. Neuron, 2015 Dec 16. PMID 26627310, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GABA receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cognition ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    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
    gamma-aminobutyric acid (GABA-B) receptor binding protein
    multiple alpha-helices and RNA-linker protein 1

    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_001347348.2 → NP_001334277.1  janus kinase and microtubule-interacting protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC110238, AC115722
      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    2. NM_001401053.1 → NP_001387982.1  janus kinase and microtubule-interacting protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC110238, AC115722

    3. NM_001401054.1 → NP_001387983.1  janus kinase and microtubule-interacting protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC110238, AC115722

    4. NM_001401055.1 → NP_001387984.1  janus kinase and microtubule-interacting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC110238, AC115722
      UniProtKB/TrEMBL
      D3Z4U5
      Related
      ENSMUSP00000113624.3, ENSMUST00000121010.9

    5. NM_001401056.1 → NP_001387985.1  janus kinase and microtubule-interacting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC110238, AC115722

    6. NM_178394.4 → NP_848481.2  janus kinase and microtubule-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_848481.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK077298, BC138649, BM900067, BY092450
      Consensus CDS
      CCDS19246.1
      UniProtKB/Swiss-Prot
      B2RS01, Q8BVL9
      Related
      ENSMUSP00000038504.5, ENSMUST00000043794.11
      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 604
      JAKMIP_CC3; JAKMIP CC3 domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      37182424..37307958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240784.4 → XP_011239086.1  janus kinase and microtubule-interacting protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239086.1

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    2. XM_011240789.4 → XP_011239091.1  janus kinase and microtubule-interacting protein 1 isoform X2

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    3. XM_036165590.1 → XP_036021483.1  janus kinase and microtubule-interacting protein 1 isoform X7

      Conserved Domains (2) summary
      TIGR02169
      Location:6 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:416 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    4. XM_011240791.4 → XP_011239093.1  janus kinase and microtubule-interacting protein 1 isoform X8

      Conserved Domains (3) summary
      TIGR02168
      Location:473 → 779
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    5. XM_011240788.4 → XP_011239090.1  janus kinase and microtubule-interacting protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239090.1

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    6. XM_017321139.3 → XP_017176628.1  janus kinase and microtubule-interacting protein 1 isoform X9

      UniProtKB/Swiss-Prot
      B2RS01, Q8BVL9
      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 604
      JAKMIP_CC3; JAKMIP CC3 domain

    7. XM_011240787.4 → XP_011239089.1  janus kinase and microtubule-interacting protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239089.1

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    8. XM_011240786.4 → XP_011239088.1  janus kinase and microtubule-interacting protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239088.1

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    9. XM_017321138.3 → XP_017176627.1  janus kinase and microtubule-interacting protein 1 isoform X1

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    10. XM_017321137.3 → XP_017176626.1  janus kinase and microtubule-interacting protein 1 isoform X1

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain

    11. XM_011240785.3 → XP_011239087.1  janus kinase and microtubule-interacting protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011239087.1

      Conserved Domains (2) summary
      TIGR02169
      Location:56 → 363
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam16034
      Location:415 → 612
      JAKMIP_CC3; JAKMIP CC3 domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BVL9.2 GenPept UniProtKB/Swiss-Prot:Q8BVL9

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