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FLASH GENE

Symbol

JAKMIP1

contributors: mct - updated : 22-06-2010

HGNC name	janus kinase and microtubule interacting protein 1
HGNC id	26460

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune lymph node       moderately Homo sapiens Nervous brain limbic system hippocampus   predominantly Homo sapiens   nerve cranial nerve       Homo sapiens Reproductive male system testis     highly Homo sapiens Visual eye retina     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte Homo sapiens Nervous neuron Homo sapiens Reproductive spermatocyte Homo sapiens Reproductive spermatogonia Homo sapiens Reproductive spermatozoa Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal region that targets the protein to microtubule polymer
	one IQ domain
	a myosin head-like domain
	a rodlike tail sequence highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils

HOMOLOGY

Homologene

FAMILY

Janus kinase (Jak) family of non-receptor tyrosine kinases

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament
	intracellular,nucleus
text	thick filaments of the myofibrils
	present in the tail and to a lesser degree in the head of the sperm cell

basic FUNCTION	involved in muscle contraction
	playing a role in the control of GABA(B) receptor expression and for the efficacy of inhibitory synaptic
	having a role in cell polarization, segregation of signaling complexes, and vesicle traffic, some of which may involve Jak tyrosine kinases transmission
	having ability to bind TYK2, a member of the Janus kinase (Jak) family of non-receptor tyrosine kinases
	involved in the control of survival, progression, and death of neuronal cells, photoreceptors included
	GABA(B) receptor and Jak tyrosine kinase-binding protein that also associates with RNA and microtubules
	being a novel effector memory gene restraining T cell-mediated cytotoxicity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds different RNA species including the 3'-untranslated regions of both the GABBR1 and GABBR2 mRNAs
	interacting with janus kinases and microtubules
	associated with two Jak family members, TYK2 and JAK1, in via its C-terminal region
	interaction with GABBR1 and KLC1 (KLC1 link GABBR1 to the tubulin cytoskeleton in neurons)
	associated to microtubules and the molecular motor kinesin-I
	associates with a microtubule fraction and with GABA(B) receptors in testis suggesting that the set of protein interactions of JAKMIP1 are conserved in different tissues

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in autism

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS