P37198 (NUP62_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nuclear pore glycoprotein p62

Alternative name(s):
62 kDa nucleoporin
Nucleoporin Nup62

Gene names

Name:

NUP62

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	522 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil formation and may function in anchorage of p62 to the pore complex.
Subunit structure	Component of the p62 complex, a complex at least composed of NUP62, NUP54, and NUPL1 By similarity.
Subcellular location	Nucleus › nuclear pore complex. Cytoplasm › cytoskeleton › spindle pole. Note: Central region of the nuclear pore, within the transporter. During mitotic cell division, it associates with the poles of the mitotic spindle.
Domain	Contains F-X-F-G repeats.
Post-translational modification	O-glycosylated. Contains about 10 N-acetylglucosamine side chain sites predicted for the entire protein, amongst which only one in the C-terminal.
Involvement in disease	Defects in NUP62 are the cause of infantile striatonigral degeneration (SNDI) [MIM:271930]; also known as infantile bilateral striatal necrosis (IBSN) or familial striatal degeneration. SNDI is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy and mental retardation. Ref.9
Sequence similarities	Belongs to the nucleoporin NSP1/NUP62 family.

Ontologies

Keywords
Biological process	Protein transport Translocation Transport mRNA transport
Cellular component	Cytoplasm Cytoskeleton Nuclear pore complex Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Coiled coil Repeat
PTM	Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Traceable author statement. Source: Reactome cell death Inferred from mutant phenotype. Source: UniProtKB cell surface receptor linked signaling pathway Inferred from direct assay. Source: UniProtKB glucose transport Traceable author statement. Source: Reactome hormone-mediated signaling pathway Non-traceable author statement. Source: UniProtKB mRNA transport Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of apoptotic process Inferred from direct assay. Source: UniProtKB negative regulation of cell proliferation Inferred from direct assay. Source: UniProtKB nucleocytoplasmic transport Non-traceable author statement. Source: GOC positive regulation of I-kappaB kinase/NF-kappaB cascade Inferred from direct assay. Source: UniProtKB positive regulation of epidermal growth factor receptor signaling pathway Non-traceable author statement. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from direct assay. Source: UniProtKB protein transport Inferred from electronic annotation. Source: UniProtKB-KW regulation of glucose transport Traceable author statement. Source: Reactome transcription, DNA-dependent Inferred from direct assay. Source: UniProtKB transmembrane transport Traceable author statement. Source: Reactome viral reproduction Traceable author statement. Source: Reactome
Cellular component	cytoplasm Non-traceable author statement. Source: UniProtKB nuclear membrane Inferred from direct assay. Source: HPA nuclear pore Inferred from direct assay Ref.1. Source: UniProtKB nucleocytoplasmic shuttling complex Non-traceable author statement. Source: UniProtKB ribonucleoprotein complex Inferred from direct assay. Source: MGI spindle pole Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	SH2 domain binding Inferred from direct assay. Source: UniProtKB chromatin binding Non-traceable author statement. Source: UniProtKB protein serine/threonine kinase activity Non-traceable author statement. Source: UniProtKB receptor signaling complex scaffold activity Inferred from direct assay. Source: UniProtKB structural constituent of nuclear pore Inferred from electronic annotation. Source: InterPro thyroid hormone receptor binding Inferred from physical interaction. Source: UniProtKB ubiquitin binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 522	522	Nuclear pore glycoprotein p62		PRO_0000204880
Regions
	Repeat	1 – 9	9	1
	Repeat	13 – 21	9	2
	Repeat	29 – 37	9	3
	Repeat	39 – 47	9	4
	Repeat	57 – 65	9	5
	Repeat	71 – 79	9	6
	Repeat	85 – 93	9	7
	Repeat	111 – 119	9	8
	Repeat	137 – 145	9	9
	Repeat	155 – 163	9	10
	Repeat	168 – 176	9	11
	Repeat	185 – 193	9	12
	Repeat	234 – 242	9	13
	Repeat	253 – 261	9	14
	Repeat	287 – 295	9	15
	Region	1 – 295	295	15 X 9 AA approximate repeats
	Coiled coil	328 – 458	131	Potential
	Compositional bias	9 – 288	280	Thr-rich
	Compositional bias	176 – 331	156	Ala-rich
Amino acid modifications
	Modified residue	408	1	Phosphoserine By similarity
	Glycosylation	373	1	O-linked (GlcNAc) By similarity
	Glycosylation	468	1	O-linked (GlcNAc) By similarity
Natural variations
	Natural variant	139	1	G → S. Corresponds to variant rs3745489 [ dbSNP | Ensembl ].		VAR_028064
	Natural variant	233	1	A → S. Corresponds to variant rs2290772 [ dbSNP | Ensembl ].		VAR_013467
	Natural variant	283	1	S → T. Ref.1 Ref.2 Ref.7 Corresponds to variant rs1062798 [ dbSNP | Ensembl ].		VAR_028065
	Natural variant	391	1	Q → P in SNDI. Ref.9		VAR_034904
Experimental info
	Sequence conflict	418 – 419	2	SG → RA in CAA41411. Ref.1
	Sequence conflict	431	1	E → Q in CAA41411. Ref.1
	Sequence conflict	507	1	E → V in CAA41411. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P37198 [UniParc]. Last modified March 20, 2007. Version 3. Checksum: 1FF65018452719A3	FASTA	522	53,255
	10 20 30 40 50 60 MSGFNFGGTG APTGGFTFGT AKTATTTPAT GFSFSTSGTG GFNFGAPFQP ATSTPSTGLF 70 80 90 100 110 120 SLATQTPATQ TTGFTFGTAT LASGGTGFSL GIGASKLNLS NTAATPAMAN PSGFGLGSSN 130 140 150 160 170 180 LTNAISSTVT SSQGTAPTGF VFGPSTTSVA PATTSGGFSF TGGSTAQPSG FNIGSAGNSA 190 200 210 220 230 240 QPTAPATLPF TPATPAATTA GATQPAAPTP TATITSTGPS LFASIATAPT SSATTGLSLC 250 260 270 280 290 300 TPVTTAGAPT AGTQGFSLKA PGAASGTSTT TSTAATATAT TTSSSSTTGF ALNLKPLAPA 310 320 330 340 350 360 GIPSNTAAAV TAPPGPGAAA GAAASSAMTY AQLESLINKW SLELEDQERH FLQQATQVNA 370 380 390 400 410 420 WDRTLIENGE KITSLHREVE KVKLDQKRLD QELDFILSQQ KELEDLLSPL EELVKEQSGT 430 440 450 460 470 480 IYLQHADEER EKTYKLAENI DAQLKRMAQD LKDIIEHLNT SGAPADTSDP LQQICKILNA 490 500 510 520 HMDSLQWIDQ NSALLQRKVE EVTKVCEGRR KEQERSFRIT FD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human nucleoporin p62 and the essential yeast nuclear pore protein NSP1 show sequence homology and a similar domain organization." Carmo-Fonseca M., Kern H., Hurt E.C. Eur. J. Cell Biol. 55:17-30(1991) [PubMed: 1915414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-283.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-283. Tissue: Brain.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-283. Tissue: Pancreas, Skin and Urinary bladder.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis." Basel-Vanagaite L., Muncher L., Straussberg R., Pasmanik-Chor M., Yahav M., Rainshtein L., Walsh C.A., Magal N., Taub E., Drasinover V., Shalev H., Attia R., Rechavi G., Simon A.J., Shohat M. Ann. Neurol. 60:214-222(2006) [PubMed: 16786527] [Abstract] Cited for: VARIANT SNDI PRO-391.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X58521 mRNA. Translation: CAA41411.1.
AL162061 mRNA. Translation: CAB82399.1.
AK125857 mRNA. Translation: BAG54257.1.
CR541721 mRNA. Translation: CAG46522.1.
AC011452 Genomic DNA. No translation available.
CH471177 Genomic DNA. Translation: EAW52576.1.
BC003663 mRNA. Translation: AAH03663.1.
BC014842 mRNA. Translation: AAH14842.1.
BC050717 mRNA. Translation: AAH50717.1.
BC095410 mRNA. Translation: AAH95410.1.
BC101104 mRNA. Translation: AAI01105.1.
BC101105 mRNA. Translation: AAI01106.1.
BC101106 mRNA. Translation: AAI01107.1.
BC101107 mRNA. Translation: AAI01108.1.

IPI

IPI00293533.

PIR

S41819.

RefSeq

NP_001180286.1. NM_001193357.1.
NP_036478.2. NM_012346.4.
NP_057637.2. NM_016553.4.
NP_714940.1. NM_153718.3.
NP_714941.1. NM_153719.3.

UniGene

Hs.574492.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2H4D	model	-	A	1-522	[»]

ProteinModelPortal

P37198.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-29749N.

IntAct

P37198. 14 interactions.

MINT

MINT-121394.

STRING

P37198.

PTM databases

GlycoSuiteDB

P37198.

PhosphoSite

P37198.

Polymorphism databases

DMDM

134047855.

Proteomic databases

PRIDE

P37198.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000352066; ENSP00000305503; ENSG00000213024.
ENST00000391824; ENSP00000375700; ENSG00000213024.
ENST00000413454; ENSP00000387991; ENSG00000213024.
ENST00000422090; ENSP00000407331; ENSG00000213024.
ENST00000443569; ENSP00000408762; ENSG00000213024.

GeneID

23636.

KEGG

hsa:23636.

UCSC

uc002pqx.1. human.

Organism-specific databases

CTD

23636.

GeneCards

GC19M050410.

H-InvDB

HIX0016974.

HGNC

HGNC:8066. NUP62.

HPA

CAB020724.
HPA005435.

MIM

271930. phenotype.
605815. gene.

neXtProt

NX_P37198.

Orphanet

225154. Familial infantile bilateral striatal necrosis.

PharmGKB

PA31854.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

HBG281771.

HOVERGEN

HBG052699.

InParanoid

P37198.

OMA

SKLCDNQ.

OrthoDB

EOG4TXBT3.

PhylomeDB

P37198.

Enzyme and pathway databases

Reactome

REACT_15518. Transmembrane transport of small molecules.
REACT_474. Metabolism of carbohydrates.
REACT_6185. HIV Infection.

Gene expression databases

Bgee

P37198.

CleanEx

HS_NUP62.

Genevestigator

P37198.

GermOnline

ENSG00000104951. Homo sapiens.

Family and domain databases

InterPro

IPR007758. Nucleoporin_NSP1_C.
[Graphical view]

KO

K14306.

PANTHER

PTHR12084. Nsp1_C. 1 hit.

Pfam

PF05064. Nsp1_C. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

46419.

SOURCE

Search...

Entry information

Entry name

NUP62_HUMAN

Accession

Primary (citable) accession number: P37198
Secondary accession number(s): B3KWU5 , Q503A4, Q6GTM2, Q96C43, Q9NSL1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1994
Last sequence update:	March 20, 2007
Last modified:	January 25, 2012
This is version 125 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.