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FLASH GENE

Symbol

KPNA3

contributors: mct - updated : 23-10-2018

HGNC name	karyopherin alpha 3 (importin alpha 4)
HGNC id	6396

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	13q14.2      Physical location : 50.273.442 - 50.367.057
Synonym name	importin alpha 4
	importin alpha Q2
	importin subunit alpha-3
Synonym symbol(s)	RCH1, SRP1ALPHA, RP11-432M24.3, IPOA4, SRP1gamma, SRP4, hSRP1

DNA

TYPE	functioning gene
STRUCTURE	93.61 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002267 17 - 4478 NP_002258 - 521 - 2018 29476013

EXPRESSION

Type	ubiquitous

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 Digestive intestine large intestine colon   highly   liver         Reproductive male system testis     highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	N-terminal hydrophilic region with the importin beta binding domain (IBB domain), sufficient for binding importin beta and essential for nuclear protein import
	ten repeats of the arm motif (from Drosophila armadillo segment polarity gene)
	an acidic C terminus

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to yeast SRP1
	homolog to Xenopus importin

intraspecies

paralog to KPNA2

Homologene

FAMILY

importin alpha protein family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
	intracellular,nuclear envelope,pore
text	cytoplasmic face of the nuclear pore complex (NPL) translocated to nucleus after loading a nuclear protein and complexing with importin beta

basic FUNCTION	may be involved in the nuclear transport system
	functioning in nuclear protein import as an adapter protein for nuclear receptor KPNB1
	protective role for KPNA3 in stress responses specifically within haploid male germline cells, with implications for male fertility and genetic integrity
	KPNA3 is a key player in the pathogenesis of SCA3

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text

nuclear

PATHWAY

metabolism

signaling

a component

component of the NLS import receptor including an heterodimer of importin alpha and beta

INTERACTION

DNA

RNA

small molecule

protein	recognizing the nuclear localization signal of nuclear proteins (NLS)
	KAPNA3-mediated nuclear import of NOTCH1-intracellular domain may play important role in regulation of NOTCH signaling
	KPNA3 and KPNA4 are key binding partners of MECP2, and mediate the nuclear import of MECP2
	KPNA3, which increases during neuronal maturation, interacts with ADARB1 and contributes to the editing efficiency by bringing it into the nucleus

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to schizophrenia, opiate dependence and alcohol dependence

Variant & Polymorphism SNP	increasing a genetic risk for schizophrenia
	one SNP rs2273816 was found to be significantly associated with schizophrenia, opiate dependence and alcohol dependence at the genotype and allele level

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS