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JAKMIP1 Gene(Protein Coding)

Janus Kinase And Microtubule Interacting Protein 1

GCID:
GC04M006026
GIFtS:
52
Genes Participants
UDN Logo

Aliases for JAKMIP1 Gene

Aliases for JAKMIP1 Gene

  • Janus Kinase And Microtubule Interacting Protein 1 2 3 5
  • Multiple Alpha-Helices And RNA-Linker Protein 1 3 4
  • GABA-B Receptor-Binding Protein 3 4
  • Gababrbp 3 4
  • Marlin-1 3 4
  • MARLIN1 3 4
  • JAMIP1 3 4
  • Multiple Coiled-Coil GABABR1-Binding Protein 3
  • Jak And Microtubule Interacting Protein 1 3

External Ids for JAKMIP1 Gene

Previous GeneCards Identifiers for JAKMIP1 Gene

  • GC04M006106
  • GC04M005962

Summaries for JAKMIP1 Gene

GeneCards Summary for JAKMIP1 Gene

JAKMIP1 (Janus Kinase And Microtubule Interacting Protein 1) is a Protein Coding gene. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include RNA binding and kinase binding. An important paralog of this gene is JAKMIP3.

UniProtKB/Swiss-Prot for JAKMIP1 Gene

  • Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAKMIP1 Gene

Genomics for JAKMIP1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for JAKMIP1 Gene

Enhancers for JAKMIP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around JAKMIP1 on UCSC Golden Path with GeneCards custom track

Promoters for JAKMIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around JAKMIP1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the JAKMIP1 gene promoter:

Genomic Location for JAKMIP1 Gene

Chromosome:
4
Start:
6,026,199 bp from pter
End:
6,200,591 bp from pter
Size:
174,393 bases
Orientation:
Minus strand

Genomic View for JAKMIP1 Gene

Genes around JAKMIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAKMIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAKMIP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for JAKMIP1 Gene

Proteins for JAKMIP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for JAKMIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96N16-JKIP1_HUMAN
    Recommended name:
    Janus kinase and microtubule-interacting protein 1
    Protein Accession:
    Q96N16
    Secondary Accessions:
    • A6H2J2
    • A6H2J3
    • A6H2J4
    • A6H2J5
    • A8MTK6
    • B4DHZ8
    • B8ZZR7
    • D3DVT0
    • Q86Y69
    • Q8N7G3

    Protein attributes for JAKMIP1 Gene

    Size:
    626 amino acids
    Molecular mass:
    73209 Da
    Quaternary structure:
    • Homodimer. Forms a complex with GABBR1 and KIF5B/kinesin-1. Interacts with JAK1 and TYK2.
    SequenceCaution:
    • Sequence=BAC05325.1; Type=Erroneous termination; Positions=285; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAC05325.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for JAKMIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAKMIP1 Gene

Proteomics data for JAKMIP1 Gene at MOPED

Protein Expression for JAKMIP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for JAKMIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JAKMIP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for JAKMIP1 Gene

Domains & Families for JAKMIP1 Gene

Protein Domains for JAKMIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JAKMIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96N16

UniProtKB/Swiss-Prot:

JKIP1_HUMAN :
  • Belongs to the JAKMIP family.
Family:
  • Belongs to the JAKMIP family.
genes like me logo Genes that share domains with JAKMIP1: view

No data available for Gene Families for JAKMIP1 Gene

Function for JAKMIP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for JAKMIP1 Gene

UniProtKB/Swiss-Prot Function:
Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements.

Gene Ontology (GO) - Molecular Function for JAKMIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IEA --
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with JAKMIP1: view

Phenotypes for JAKMIP1 Gene

MGI mutant phenotypes for JAKMIP1:
inferred from 1 alleles
GenomeRNAi human phenotypes for JAKMIP1:
genes like me logo Genes that share phenotypes with JAKMIP1: view

Animal Models for JAKMIP1 Gene

MGI Knock Outs for JAKMIP1:

Animal Model Products

miRNA for JAKMIP1 Gene

miRTarBase miRNAs that target JAKMIP1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for JAKMIP1 Gene

Localization for JAKMIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAKMIP1 Gene

Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Note=Colocalizes with the microtubule network. Localizes to the cell body and neurites of hippocampal neurons where it accumulates in granules. Localizes to the tail and to a lower extent to the head of sperm cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JAKMIP1 Gene COMPARTMENTS Subcellular localization image for JAKMIP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
peroxisome 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for JAKMIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019898 extrinsic component of membrane IDA 14718537
genes like me logo Genes that share ontologies with JAKMIP1: view

Pathways & Interactions for JAKMIP1 Gene

genes like me logo Genes that share pathways with JAKMIP1: view

Pathways by source for JAKMIP1 Gene

1 BioSystems pathway for JAKMIP1 Gene

Gene Ontology (GO) - Biological Process for JAKMIP1 Gene

None

No data available for SIGNOR curated interactions for JAKMIP1 Gene

Drugs & Compounds for JAKMIP1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for JAKMIP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for JAKMIP1 Gene

(7) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(31) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for JAKMIP1 Gene

Janus kinase and microtubule interacting protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JAKMIP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
SP1: - -
SP2: -
SP3: - - -

Relevant External Links for JAKMIP1 Gene

GeneLoc Exon Structure for
JAKMIP1
ECgene alternative splicing isoforms for
JAKMIP1

Expression for JAKMIP1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for JAKMIP1 Gene

mRNA expression in normal human tissues for JAKMIP1 Gene
mRNA expression by BioGPS for JAKMIP1 GenemRNA expression by GTEx for JAKMIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JAKMIP1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x7.3), Brain - Nucleus accumbens (basal ganglia) (x7.0), Brain - Caudate (basal ganglia) (x6.1), Brain - Frontal Cortex (BA9) (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.3), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for JAKMIP1 Gene

This gene is overexpressed in Islet of Langerhans (25.7), Cerebrospinal fluid (17.8), and Fetal Brain (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for JAKMIP1 Gene



SOURCE GeneReport for Unigene cluster for JAKMIP1 Gene Hs.479066

mRNA Expression by UniProt/SwissProt for JAKMIP1 Gene

Q96N16-JKIP1_HUMAN
Tissue specificity: Predominantly expressed in neural tissues and lymphoid cells (at protein level). Isoform 2, isoform 3 and isoform 4 are specifically expressed in brain and retina. Isoform 1 and isoform 5 are also detected in liver, lung and skeletal muscle. Also detected in testis and to a lower extent spleen and intestine.
genes like me logo Genes that share expression patterns with JAKMIP1: view

Primer Products

No data available for Protein tissue co-expression partners for JAKMIP1 Gene

Orthologs for JAKMIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for JAKMIP1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia JAKMIP1 35
  • 91.5 (n)
  • 96.87 (a)
JAKMIP1 36
  • 97 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Jakmip1 35
  • 87.49 (n)
  • 95.21 (a)
Jakmip1 16
Jakmip1 36
  • 93 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia JAKMIP1 35
  • 99.3 (n)
  • 99.75 (a)
JAKMIP1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Jakmip1 35
  • 87.22 (n)
  • 95.7 (a)
cow
(Bos Taurus)
 Mammalia JAKMIP1 36
  • 96 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 88 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia JAKMIP1 36
  • 61 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves JAKMIP1 35
  • 76.73 (n)
  • 84.96 (a)
-- 36
  • 84 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 65 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia jakmip1 35
  • 70.92 (n)
  • 77.81 (a)
zebrafish
(Danio rerio)
 Actinopterygii jakmip3 35
  • 67.33 (n)
  • 68.44 (a)
BX005356.1 36
  • 66 (a)
 ManyToMany
Species with no ortholog for JAKMIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for JAKMIP1 Gene

ENSEMBL:
Gene Tree for JAKMIP1 (if available)
TreeFam:
Gene Tree for JAKMIP1 (if available)

Paralogs for JAKMIP1 Gene

Paralogs for JAKMIP1 Gene

(2) SIMAP similar genes for JAKMIP1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with JAKMIP1: view

Variants for JAKMIP1 Gene

Sequence variations from dbSNP and Humsavar for JAKMIP1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_039471 -
VAR_039472 A colorectal cancer sample
rs879420 -- 6,194,685(-) TACCC(C/T)TATGC intron-variant, upstream-variant-2KB
rs885420 -- 6,184,089(+) TGAGA(A/C)TAAAC intron-variant
rs729146 -- 6,123,503(+) TTAAA(A/G)TAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JAKMIP1 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER Inversion 12058347
nsv829845 CNV Loss 17160897
nsv4209 CNV Insertion 18451855
esv23305 CNV Loss 19812545
esv2324557 CNV Deletion 18987734
nsv290545 CNV Insertion 16902084
esv1003999 CNV Deletion 20482838
esv998642 CNV Deletion 20482838
nsv461185 CNV Loss 19166990
nsv878520 CNV Loss 21882294
esv992225 CNV Insertion 20482838
nsv470005 CNV Gain 18288195
nsv829846 CNV Loss 17160897
nsv4211 CNV Insertion 18451855
nsv290071 CNV Loss 16902084
esv2726985 CNV Deletion 23290073
esv2726986 CNV Deletion 23290073
esv2726987 CNV Deletion 23290073
esv2726988 CNV Deletion 23290073
esv27261 CNV Loss 19812545
esv2675636 CNV Deletion 23128226
nsv292531 CNV Insertion 16902084
esv2726989 CNV Deletion 23290073
esv2213984 CNV Deletion 18987734
dgv919e199 CNV Deletion 23128226
esv2726990 CNV Deletion 23290073
dgv855n67 CNV Gain 20364138

Variation tolerance for JAKMIP1 Gene

Residual Variation Intolerance Score: 4.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.40% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for JAKMIP1 Gene

Disorders for JAKMIP1 Gene

Relevant External Links for JAKMIP1

Genetic Association Database (GAD)
JAKMIP1
Human Genome Epidemiology (HuGE) Navigator
JAKMIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JAKMIP1

No disorders were found for JAKMIP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JAKMIP1 Gene

Publications for JAKMIP1 Gene

  1. Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules. (PMID: 15277531) Steindler C. … Pellegrini S. (J. Biol. Chem. 2004) 3 4 23 67
  2. Jakmip1 is expressed upon T cell differentiation and has an inhibitory function in cytotoxic T lymphocytes. (PMID: 18941173) Libri V. … Pellegrini S. (J. Immunol. 2008) 2 3
  3. Identification and expression analysis of novel Jakmip1 transcripts. (PMID: 17761393) Costa V. … Ciccodicola A. (Gene 2007) 3 23
  4. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3
  5. Overexpression of JAKMIP1 associates with Wnt/I^-catenin pathway activation and promotes cancer cell proliferation in vitro. (PMID: 23481296) Okai I. … Shao S. (Biomed. Pharmacother. 2013) 3

Products for JAKMIP1 Gene

Sources for JAKMIP1 Gene

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