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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

Location	4p16.1      Physical location : 6.027.925 - 6.202.318
Synonym name	JAK and microtubule interacting protein 1
	multiple coiled-coil GABABR1-binding protein
	multiple alpha-helices and RNA-linker protein 1
	GABA-B receptor-binding protein
Synonym symbol(s)	JAMIP1, FLJ31564, MARLIN1, Gababrbp, Marlin-1

DNA

TYPE	functioning gene
STRUCTURE	174.39 kb     21 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant a 13 - 2547 isoform a - 831 - 2007 17761393 three coiled-coil region CCR1, CCR2, CCR3 NM_001099433 21 - 3011 NP_001092903 - 831 in retina, brain and retinoblastoma cell line 2008 18941173 isoform b three coiled-coil region CCR1, CCR2, CCR3 created by an internal alternative donor splice site in exon 13, located 71 bp upstream the TAA termination codon variant c 13 - 1743 isoform c 14 431 brain-specific 2007 17761393 lacking exons 11 to 18 two coiled-coil region CCR1, CCR2 variant d 9 - 2189 isoform d - 690 brain-specific 2007 17761393 lacking exons 7 to 19 variant e 7 - 2420 isoform e - 831 brain-specific 2007 17761393 lacks 185 amino acids, corresponding to the spliced exons 3 and 8, without a frameshift in the ORF three coiled-coil region, (CCR1, CCR2, CCR3) NM_144720 12 - 2593 NP_653321 - 626 - 2008 18941173

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