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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
  • Janus Kinase And Microtubule-Interacting Protein 1 3
  • 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. Diseases associated with JAKMIP1 include Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia. Among its related pathways are Ectoderm Differentiation and Integrated Breast Cancer Pathway. GO annotations related to this gene include RNA binding and kinase binding. An important paralog of this gene is JAKMIP2.

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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAKMIP1 Gene

Genomics for JAKMIP1 Gene

Regulatory Elements for JAKMIP1 Gene

Enhancers for JAKMIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G006197 1.5 FANTOM5 ENCODE dbSUPER 15.2 +0.7 737 4.7 PKNOX1 WRNIP1 SIN3A GLIS2 ZNF143 ZNF207 ZNF263 SP5 NFYC REST JAKMIP1 GC04M006128
GH04G006177 1.3 FANTOM5 ENCODE dbSUPER 13.7 +22.6 22557 0.8 HDGF SRF TBP PKNOX1 KLF1 SMAD5 CBFB ELF1 ZBTB40 GABPA JAKMIP1 GC04M006128
GH04G006221 1.1 FANTOM5 ENCODE 13 -21.5 -21505 0.4 SCRT1 MAZ SP3 HLF RBBP5 REST SP1 ZFHX2 GLIS2 EGR1 PPP2R2C JAKMIP1 CRMP1 MRFAP1L1 LOC105374364 PIR53262
GH04G006179 1.5 FANTOM5 ENCODE dbSUPER 9.5 +18.6 18599 5.8 HDGF TBP PKNOX1 TBL1XR1 NFIB WRNIP1 SIN3A BMI1 ELK1 ZNF207 JAKMIP1 GC04M006128
GH04G006391 0.7 ENCODE dbSUPER 10.4 -191.4 -191408 0.1 JUND NR2F1 FOS ENSG00000251408 LINC02495 JAKMIP1 GC04P006407 PIR36979
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000165406 291 1001 PKNOX1 KLF17 ZNF207 NFYA USF2 NFYC REST SP1 TFDP1 RAD51

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 StructureGene Density

RefSeq DNA sequence for JAKMIP1 Gene

Proteins for JAKMIP1 Gene

  • 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

neXtProt entry for JAKMIP1 Gene

Post-translational modifications for JAKMIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for JAKMIP1 Gene

Domains & Families for JAKMIP1 Gene

Protein Domains for JAKMIP1 Gene

InterPro:
ProtoNet:

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

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:0003723 RNA binding IDA 14718537
GO:0005515 protein binding IPI 17500595
GO:0008017 microtubule binding IEA --
GO:0019894 kinesin binding IEA --
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with JAKMIP1: view
genes like me logo Genes that share phenotypes with JAKMIP1: view

Animal Models for JAKMIP1 Gene

MGI Knock Outs for JAKMIP1:

Animal Model Products

CRISPR Products

miRNA for JAKMIP1 Gene

miRTarBase miRNAs that target JAKMIP1

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAKMIP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
peroxisome 2
cytosol 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for JAKMIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0015630 microtubule cytoskeleton IEA --
GO:0016020 membrane IEA --
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

2 BioSystems pathways for JAKMIP1 Gene

Gene Ontology (GO) - Biological Process for JAKMIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0050890 cognition IMP 17519220
genes like me logo Genes that share ontologies with JAKMIP1: view

No data available for SIGNOR curated interactions for JAKMIP1 Gene

Drugs & Compounds for JAKMIP1 Gene

No Compound Related Data Available

Transcripts for JAKMIP1 Gene

Unigene Clusters for JAKMIP1 Gene

Janus kinase and microtubule interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for JAKMIP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of JAKMIP1 Gene:

JAKMIP1

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.

Evidence on tissue expression from TISSUES for JAKMIP1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with JAKMIP1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia JAKMIP1 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia JAKMIP1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAKMIP1 34 35
  • 91.5 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Jakmip1 34 16 35
  • 87.49 (n)
rat
(Rattus norvegicus)
Mammalia Jakmip1 34
  • 87.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia JAKMIP1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 84 (a)
ManyToMany
JAKMIP1 34
  • 76.73 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 65 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia jakmip1 34
  • 70.92 (n)
zebrafish
(Danio rerio)
Actinopterygii jakmip3 34
  • 67.33 (n)
BX005356.1 35
  • 66 (a)
ManyToMany
Species where no ortholog for JAKMIP1 was found in the sources mined by GeneCards:
  • 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
rs199693515 A colorectal cancer sample 6,080,290(+) GAGAC(A/G)CCTGC reference, missense
rs1000000893 -- 6,038,600(+) GTCTC(A/C)TCTGG intron-variant
rs10000296 -- 6,106,038(+) ACAGC(G/T)GGGGG intron-variant
rs1000034381 -- 6,089,703(+) GTGAG(C/T)TCCAC intron-variant
rs1000034717 -- 6,124,920(+) GACTA(C/T)GAGGC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv855n67 CNV gain 20364138
dgv919e199 CNV deletion 23128226
esv1003999 CNV deletion 20482838
esv2213984 CNV deletion 18987734
esv2324557 CNV deletion 18987734
esv23305 CNV loss 19812545
esv2675636 CNV deletion 23128226
esv27261 CNV loss 19812545
esv2726985 CNV deletion 23290073
esv2726986 CNV deletion 23290073
esv2726987 CNV deletion 23290073
esv2726988 CNV deletion 23290073
esv2726989 CNV deletion 23290073
esv2726990 CNV deletion 23290073
esv3046552 CNV deletion 24192839
esv3340829 CNV duplication 20981092
esv3343133 CNV duplication 20981092
esv3353576 CNV duplication 20981092
esv3398591 CNV insertion 20981092
esv3417545 CNV duplication 20981092
esv34196 OTHER inversion 12058347
esv3599498 CNV loss 21293372
esv3599499 CNV loss 21293372
esv992225 CNV insertion 20482838
esv998642 CNV deletion 20482838
nsv1073299 CNV deletion 25765185
nsv1073300 CNV deletion 25765185
nsv1074680 CNV deletion 25765185
nsv1112054 CNV deletion 24896259
nsv1120820 CNV deletion 24896259
nsv1124885 CNV duplication 24896259
nsv1128030 CNV deletion 24896259
nsv1150463 CNV insertion 26484159
nsv290071 CNV deletion 16902084
nsv290545 CNV insertion 16902084
nsv292531 CNV insertion 16902084
nsv4209 CNV insertion 18451855
nsv4211 CNV insertion 18451855
nsv461185 CNV loss 19166990
nsv470005 CNV gain 18288195
nsv474296 CNV novel sequence insertion 20440878
nsv593493 CNV loss 21841781
nsv593494 CNV loss 21841781
nsv829845 CNV loss 17160897
nsv829846 CNV loss 17160897
nsv949776 CNV deletion 24416366

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)

Relevant External Links for JAKMIP1 Gene

Human Gene Mutation Database (HGMD)
JAKMIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAKMIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAKMIP1 Gene

Disorders for JAKMIP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for JAKMIP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • syndromic x-linked intellectual disability najm type
- elite association - COSMIC cancer census association via MalaCards

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

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

Publications for JAKMIP1 Gene

  1. Identification and expression analysis of novel Jakmip1 transcripts. (PMID: 17761393) Costa V. … Ciccodicola A. (Gene 2007) 3 4 22 64
  2. 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 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. 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 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for JAKMIP1 Gene

Sources for JAKMIP1 Gene

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