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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 White-Sutton Syndrome and Smith-Magenis 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 Summary 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
- HGNC(26460)
- Entrez Gene(152789)
- Ensembl(ENSG00000152969)
- OMIM(611195)
- UniProtKB(Q96N16)
- Open Targets Platform(ENSG00000152969)
- 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 , Rfam classification and piRNA Summary for JAKMIP1 Gene
Genomics for JAKMIP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for JAKMIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around JAKMIP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JAKMIP1
- Top Transcription factor binding sites by QIAGEN in the JAKMIP1 gene promoter:
-
- AhR
- AML1a
- AP-4
- AREB6
- Arnt
- ATF6
- CBF(2)
- NF-Y
- p300
- Spz1
Genomic Locations for JAKMIP1 Gene
Genomic Locations for JAKMIP1 Gene
- chr4:6,024,925-6,200,591
- (GRCh38/hg38)
- Size:
- 175,667 bases
- Orientation:
- Minus strand
- chr4:6,027,926-6,202,318
- (GRCh37/hg19)
- 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:
-
- 4p16.1 by HGNC
- 4p16.1 by Entrez Gene
- 4p16.1 by Ensembl
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; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAC05325.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 3]: Dubious isoform produced through aberrant splice sites.
- [Isoform 4]: Dubious isoform produced through aberrant splice sites.
Protein Expression for JAKMIP1 Gene
Post-translational modifications for JAKMIP1 Gene
Other Protein References for JAKMIP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for JAKMIP1
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-
Abcam antibodies for JAKMIP1
- Invitrogen Antibodies for JAKMIP1 (AFLGC-JAKMIP1)
-
Biorbyt antibodies for JAKMIP1
-
Boster Bio Antibodies for JAKMIP1
-
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Protein Products
-
OriGene Purified Proteins for JAKMIP1
- Search Origene for MassSpec and Protein Over-expression Lysates for JAKMIP1
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- antibodies-online: Show 3 available JAKMIP1 Proteins ranked by validation data
- Compare Top JAKMIP1 Proteins
-
Quality Products:
-
Abcam proteins for JAKMIP1
Assay Products
-
Signalway ELISA kits for JAKMIP1
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
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ53834, highly similar to Homo sapiens multiple coiled-coil GABABR1-binding protein (MARLIN1), mRNA (B4DG10_HUMAN)
- Multiple alpha-helices and RNA-linker protein 1 (JKIP1_HUMAN)
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 Jakmip1<tm1(KOMP)Vlcg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for JAKMIP1 - Select products 50% OFF >
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-
Santa Cruz Biotechnology (SCBT) CRISPR for JAKMIP1
miRNA for JAKMIP1 Gene
- miRTarBase miRNAs that target JAKMIP1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for JAKMIP1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for JAKMIP1
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Cell Line Products
-
Horizon Cell Lines for JAKMIP1
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 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 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
UniProtKB
STRING
IID
GPS-Prot Interaction Network for JAKMIP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015031 | protein transport | IEA | -- |
| GO:0050890 | cognition | IMP | 17519220 |
Transcripts for JAKMIP1 Gene
mRNA/cDNA for JAKMIP1 Gene
- 4 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000282924 2585 nts (view in UCSC)
- ENST00000409021 2969 nts (view in UCSC)
- ENST00000409371 2416 nts (view in UCSC)
- ENST00000409831 2371 nts (view in UCSC)
- ENST00000410077 1835 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for JAKMIP1 - Select products 50% OFF >
- * JAKMIP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for JAKMIP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for JAKMIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for JAKMIP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for JAKMIP1
- Browse OriGene Inhibitory RNA Products For JAKMIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAKMIP1
Clone Products
- Applied Biological Materials (abm): Clones for JAKMIP1 - Select products 50% OFF >
- * JAKMIP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for JAKMIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JAKMIP1
| 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
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, MaxQB, and MOPED for JAKMIP1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JAKMIP1
SOURCE 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)
Primer Products
-
OriGene qPCR primer pairs for JAKMIP1
-
OriGene qPCR primer pairs and template standards for JAKMIP1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | JAKMIP1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | JAKMIP1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | JAKMIP1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| Mouse (Mus musculus) |
Mammalia | Jakmip1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Jakmip1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | JAKMIP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
| JAKMIP1 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | jakmip1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | jakmip3 30 |
|
||
| BX005356.1 31 |
|
ManyToMany |
- Species where no ortholog for JAKMIP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for JAKMIP1: view image
Paralogs for JAKMIP1 Gene
Variants for JAKMIP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JAKMIP1 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 710924 | Benign: not provided | 6,081,672(-) | C/G | SYNONYMOUS_VARIANT | |
| 714239 | Benign: not provided | 6,036,057(-) | C/T | SYNONYMOUS_VARIANT | |
| 714279 | Benign: not provided | 6,042,198(-) | G/A | SYNONYMOUS_VARIANT | |
| 729135 | Likely Benign: not provided | 6,065,017(-) | C/T | INTRON_VARIANT | |
| 737928 | Likely Benign: not provided | 6,029,725(-) | C/T | SYNONYMOUS_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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAKMIP1 Gene
Disorders for JAKMIP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| white-sutton syndrome |
|
|
| smith-magenis syndrome |
|
|
| mental retardation and microcephaly with pontine and cerebellar hypoplasia |
|
|
| autism |
|
|
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
- Open Targets Platform
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 23
- 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 23
- 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 41
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for JAKMIP1 Gene
- Custom Antibody ServicesOriGene Antibodies for JAKMIP1
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- antibodies-online: Show 18 available JAKMIP1 Antibodies ranked by validation data
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- antibodies-online: Show 3 available JAKMIP1 Proteins ranked by validation data
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- Quality Products:
- Custom Antibody ServicesProSci Antibodies for JAKMIP1
- Search for JAKMIP1 Proteins at ProSci
- Horizon Cell Lines for JAKMIP1
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Sources for JAKMIP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
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- (83) Illumina
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- (85) HOMER
- (86) PaxDb
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- (166) Modomics
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- (176) 5SRRNADB
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