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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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ectoderm Differentiation | ||
2 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015031 | protein transport | IEA | -- |
GO:0050890 | cognition | IMP | 17519220 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
white-sutton syndrome |
|
|
smith-magenis syndrome |
|
|
mental retardation and microcephaly with pontine and cerebellar hypoplasia |
|
|
autism |
|
|