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FLASH GENE

Symbol

NUP62

contributors: mct - updated : 23-11-2015

HGNC name	nucleoporin 62kDa
HGNC id	8066

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SNDI1 striatonigral degeneration, infantile, 1
Location	19q13.33      Physical location : 50.410.085 - 50.432.988
Synonym symbol(s)	P62, FLJ20822, FLJ43869, IBSN, MGC841, SNDI, p62

DNA

TYPE	functioning gene
STRUCTURE	22.90 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

intronless

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D19S425 - D19S208 - CAPNS1 - D19S897 - D19S228 - D19S881 - CYP2A6 - PSG7 - D19S872 - CEACAM1 - D19S900 - D19S217 - GIPR - D19S412 - SULT2A1 - LIG1 LIG1 - NUP62 - D19S867 - D19S572 - D19S418 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016553 3 - 3602 - 522 - 2009 19166812 NM_172374 2 - 2315 - 589 - 2009 19166812 NM_153718 2 - 3280 - 522 - 2009 19166812 NM_012346 2 - 3241 - 522 - 2009 19166812 NM_001193357 2 - 3200 - 522 - 2009 19166812

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 mouth tongue     highly   salivary gland       highly Lymphoid/Immune spleen       highly Reproductive male system testis     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal region ressembling the repetitive middle domain of NSP1
	a C terminal domain homolog to the C terminus of NSP1, with an hydrophobic heptad repeat organization

HOMOLOGY

interspecies

homolog to yeast NSP1

Homologene

FAMILY

CATEGORY

structural protein , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus
	intracellular,nuclear envelope,pore
text	co-localization of OSBPL8 and NUP62 at the nuclear envelope

basic FUNCTION	may be targeting and anchoring NUP62 to the pore complex (heptad repeat)
	having a cell type-specific role and being important in the degeneration of the basal ganglia
	playing a role with KIFC1 in acrosome/manchette transport along the nuclear membrane or in transport of vesicles along the outer face of the manchette
	oxidative stress inhibits nuclear protein export by multiple mechanisms that target NUP214, NUP62 and CRM1
	NUP62 and nucleoporin 214 (NUP214) are differentially distributed between nuclear pore complexes on the flattened surfaces and peripheral rim of the nucleus

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	nucleocytoplastic bidirectional transport

PATHWAY

metabolism

signaling

a component	constituent of the nuclear pore complex
	association with KIFC1
	nuclear pore complex encloses a central channel for nucleocytoplasmic transport, which is thought to consist of three nucleoporins, NUP54, NUP58, and NUP62
	NUP62 complex contains the FG-repeat proteins NUP62, NUP54, and NUP58 and is located in the center of the nuclear pore complex

INTERACTION

DNA

RNA

small molecule

protein	interaction partner of CAPG, also localized to the midbody ring at the end of abscission and colocalized with CAPG
	NUP62 and NR3C1 were able to interact in a more efficient manner when chaperoned by the HSP90-based heterocomplex
	predominantly interacted with transcriptionally active genes inside the nucleoplasm, in particular those involved in developmental regulation and the cell cycle
	interaction partner of OSBPL8
	AES interacted with NUP62, and removal of the FG-repeat containing N terminus of NUP62 totally abolished the interaction with AES
	novel function for PSEN1 in modulating NUP62 expression to control the proteostasis of MAPT
	negative regulatory loop within the nuclear pore complex (NPC) controlling the chromatin attachment state, in which NUP155 and NUP93 recruit NUP62 to suppress chromatin tethering by NUP155
	NUP62 and the C termini of NPHP4 and IQCB1 interact with KIF17 and thus spatially map to the inner region of the ciliary gating zone

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SNDI1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS