Aliases for JAKMIP1 Gene
Aliases for JAKMIP1 Gene
External Ids for JAKMIP1 Gene
- HGNC: 26460
- Entrez Gene: 152789
- Ensembl: ENSG00000152969
- OMIM: 611195
- UniProtKB: Q96N16
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 and Mowat-Wilson Syndrome. Among its related pathways are Ectoderm Differentiation and Integrated Breast Cancer Pathway. Gene Ontology (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.
Additional gene information for JAKMIP1 Gene
- Monarch Initiative
- Search for JAKMIP1 at DataMed
- Search for JAKMIP1 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for JAKMIP1 Gene
Promoters and enhancers for JAKMIP1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04I006197 | Promoter/Enhancer | 2.3 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 565.3 | +0.7 | 737 | 4.7 | PKNOX1 FOXA2 KLF17 SIN3A KLF5 ZNF335 GLIS2 ZNF207 ZNF143 BCLAF1 | JAKMIP1 LINC02495 GC04M006128 | |
| GH04I006177 | Enhancer | 1.1 | FANTOM5 ENCODE dbSUPER | 13.7 | +22.6 | 22556 | 0.8 | HDGF KLF1 SMAD5 ELF1 ZBTB40 GABPA ZFHX2 POLR2A GABPB1 NFATC1 | JAKMIP1 GC04M006128 | |
| GH04I006179 | Enhancer | 1.3 | FANTOM5 ENCODE dbSUPER | 9.5 | +18.6 | 18598 | 5.8 | HDGF PKNOX1 SMAD1 NFIB BMI1 BATF KLF5 IRF4 ZNF207 ATF7 | JAKMIP1 GC04M006128 | |
| GH04I006221 | Enhancer | 0.9 | FANTOM5 ENCODE | 13 | -21.5 | -21504 | 0.4 | SCRT1 MAZ SP3 HLF SIN3A ZNF335 SP1 ZFHX2 GLIS2 GLIS1 | LOC105374364 PPP2R2C JAKMIP1 CRMP1 MRFAP1L1 PIR53262 LINC02495 | |
| GH04I007155 | Enhancer | 0.7 | ENCODE | 10.5 | -955.8 | -955777 | 2 | CTCF USF1 TSC22D4 ZIC2 RAD21 RELA ZNF316 RCOR1 NFE2 CHD2 | GC04P007155 SORCS2 JAKMIP1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around JAKMIP1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for JAKMIP1 Gene
Genomic Locations for JAKMIP1 Gene
- chr4:6,026,199-6,200,591
- (GRCh38/hg38)
- Size:
- 174,393 bases
- Orientation:
- Minus strand
- chr4:6,027,926-6,202,318
- (GRCh37/hg19)
Genomic View for JAKMIP1 Gene
Genes around JAKMIP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p16.1 by Ensembl
- 4p16.1 by Entrez Gene
- 4p16.1 by HGNC
JAKMIP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for JAKMIP1 Gene
Post-translational modifications for JAKMIP1 Gene
No Post-translational modifications
Other Protein References for JAKMIP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
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Assay Products
No data available for DME Specific Peptides for JAKMIP1 Gene
Domains & Families for JAKMIP1 Gene
Gene Families for JAKMIP1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for JAKMIP1 Gene
Graphical View of Domain Structure for InterPro Entry
Q96N16- Family:
-
- Belongs to the JAKMIP family.
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.
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for JAKMIP1 Gene
- MGI mutant phenotypes for JAKMIP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for JAKMIP1:
Animal Models for JAKMIP1 Gene
- MGI Knock Outs for JAKMIP1:
-
- Jakmip1 tm1(KOMP)Vlcg
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miRNA for JAKMIP1 Gene
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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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 3 |
| peroxisome | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for JAKMIP1 Gene
Pathways & Interactions for JAKMIP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ectoderm Differentiation | ||
| 2 | Integrated Breast Cancer Pathway | ||
Pathways by source for JAKMIP1 Gene
2 BioSystems pathways for JAKMIP1 Gene
Interacting Proteins for JAKMIP1 Gene
Selected Interacting proteins:
Q96N16-JKIP1_HUMAN
ENSP00000386711
for JAKMIP1 Gene via
IID
UniProtKB
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0050890 | cognition | IMP | 17519220 |
No data available for SIGNOR curated interactions for JAKMIP1 Gene
Transcripts for JAKMIP1 Gene
mRNA/cDNA for JAKMIP1 Gene
- (17) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (31) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for JAKMIP1 Gene
- Janus kinase and microtubule interacting protein 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for JAKMIP1
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-
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: | - | - | - |
Expression for JAKMIP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Intestine (Gastrointestinal Tract)
- Eye (Sensory Organs)
-
Ovary (Reproductive System)
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).
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:
JAKMIP1SOURCE GeneReport for Unigene cluster for JAKMIP1 Gene:
Hs.479066mRNA 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)
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-
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | JAKMIP1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | JAKMIP1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | JAKMIP1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| mouse (Mus musculus) |
Mammalia | Jakmip1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Jakmip1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | JAKMIP1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
ManyToMany | |
| JAKMIP1 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | jakmip1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | jakmip3 33 |
|
||
| BX005356.1 34 |
|
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)
Paralogs for JAKMIP1 Gene
(2) SIMAP similar genes for JAKMIP1 Gene using alignment to 3 proteins:
Variants for JAKMIP1 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs199693515 | A colorectal cancer sample | 6,080,290(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1000000893 | -- | 6,038,600(-) | C/A | genic_downstream_transcript_variant, intron_variant | |
| rs10000296 | -- | 6,106,038(-) | T/G | intron_variant | |
| rs1000034381 | -- | 6,089,703(-) | C/T | intron_variant | |
| rs1000034717 | -- | 6,124,920(-) | T/C | intron_variant |
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)
Additional Variant Information for JAKMIP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAKMIP1 Gene
Disorders for JAKMIP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation and microcephaly with pontine and cerebellar hypoplasia |
|
|
| mowat-wilson syndrome |
|
|
| cardiofaciocutaneous syndrome 1 |
|
|
| glycine encephalopathy |
|
|
Search JAKMIP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for JAKMIP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for JAKMIP1 Gene
Publications for JAKMIP1 Gene
- Identification and expression analysis of novel Jakmip1 transcripts. (PMID: 17761393) Costa V … Ciccodicola A (Gene 2007) 3 4 22 58
- Jamip1 (marlin-1) defines a family of proteins interacting with janus kinases and microtubules. (PMID: 15277531) Steindler C … Pellegrini S (The Journal of biological chemistry 2004) 3 4 22 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Jakmip1 is expressed upon T cell differentiation and has an inhibitory function in cytotoxic T lymphocytes. (PMID: 18941173) Libri V … Pellegrini S (Journal of immunology (Baltimore, Md. : 1950) 2008) 2 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
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Sources for JAKMIP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
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