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FLASH GENE

Symbol

NUP153

contributors: mct - updated : 29-12-2017

HGNC name	nucleoporin 153kDa
HGNC id	8062

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p22.3      Physical location : 17.615.268 - 17.706.818
Synonym symbol(s)	HNUP153, N153

DNA

TYPE	like-sequence
STRUCTURE	91.80 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001278210 21 - 5811 NP_001265139 - 1433 - - NM_005124 22 - 5937 NP_005115 - 1475 - - NM_001278209 23 - 6030 NP_001265138 - 1505 - -

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 Lymphoid/Immune lymph node       highly   tonsils         Reproductive female system uterus cervix       female system placenta     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal region within which a pore targeting domain
	cytoplasmic O-linked N-acetylglucosamine residues
	four apparent zinc finger domains
	a novel RNA binding domain, a 150-amino acid region previously found to bind preferentially to a panel of mRNAs when compared with structured RNAs, such as tRNA, U snRNA, and double-stranded RNA
	C-terminal region containing multiple XFXFG repeats (33 copies of the pentapeptide XFXFG), and a C-terminal part of NUP153 is required for effective TP53BP1 nuclear import

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to rattus Nup153

Homologene

FAMILY

CATEGORY

structural protein , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nuclear envelope,pore
text	intranuclear side of the pore, located to the terminal ring structure of the nucleoplasmic cage

basic FUNCTION	required for nuclear pore complex anchoring within the nuclear envelop and in mediating specific nuclear import events
	mediate the regulated movement of macromolecules between the nucleus and cytoplasm
	mobile nucleoporin implicated in RNA export
	has separable roles in both early mitotic progression and the resolution of mitosis
	NUP153 levels regulate the localization of MAD1L1 during the metaphase/anaphase transition thereby affecting its phoshorylation status and in turn spindle checkpoint activity and mitotic exit
	has a role in repair of DSBs and in the activation of DNA damage checkpoints
	central function of NUP153 in the organization of the nucleus, not only at the periphery, but throughout the entire nuclear interior
	chromatin-associated role of NUP153 in maintaining stem cell pluripotency by functioning in mammalian epigenetic gene silencing
	NUP133 and NUP153 play different roles in assembling the nuclear pore complex (NPC) on membrane fenestrations

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	nucleocytoplasmic transport bidirectional

PATHWAY

metabolism

signaling

a component	constituent of nuclear pore complex
	member of SPI1.RanGTP.NUP153 complex)

INTERACTION

DNA

RNA

small molecule

protein	binding lamin B, LAMB3 during lamina assembly binding importin alpha/beta, transportin (karyopherin KPN, TRN2)
	interacting with SPI1 (formation of a SPI1.RanGTP.NUP153 complex)
	interaction of NUP153 with the spindle assembly checkpoint protein MAD1L1 is important in the regulation of the spindle checkpoint
	DICER1 associates with NUP153(this association is detected predominantly in the cytoplasm but is also clearly distinguishable at the nuclear periphery), and NUP153 plays a crucial role in the nuclear localization of the DICER1 protein
	both the N-terminal and the C-terminal domain of NUP153 are directly interacting with the lamins, suggesting that NUP153 may play a role in lamin-associated diseases
	TP53BP1 is imported to the nucleus through the NUP153-KPNB1 interplay
	NUP153 binds to both SENP1 and SENP2 and does so by interacting with the unique N-terminal domain of NUP153 as well as a specific region within the C-terminal FG-rich region
	interaction between NUP50 and a region in the unique N-terminal region of NUP153 is critical for the nuclear pore localization of NUP50
	KPNB1 and NUP153 interact at the nuclear pore complex (NPC) nuclear face to form a Ran-regulated mesh that modulates NPC permeability
	nuclear transport receptor TNPO and the small GTPase RAN regulate the interaction of NUP153 with the membrane and, in this way, direct pore complex assembly to the nuclear envelope during interphase
	only NUP153 is needed for proper nuclear import of TP53BP1 and SENP1-dependent sumoylation of TP53BP1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   alterations in specific proteins (NDC1, NUP160, NUP153 and NUP93) in ischaemic and dilated human heart

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     potential as a novel therapeutic target in cancers

ANIMAL & CELL MODELS