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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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. Interacts with C11orf73/Hikeshi. Ref.11
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	Infantile striatonigral degeneration (SNDI) [MIM:271930]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12
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 PubMed 11244088. Source: UniProtKB cytokine-mediated signaling pathway Traceable author statement. Source: Reactome glucose transport Traceable author statement. Source: Reactome hormone-mediated signaling pathway Non-traceable author statement PubMed 15625236. Source: UniProtKB mRNA transport Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of apoptotic process Inferred from direct assay PubMed 11755531. Source: UniProtKB negative regulation of cell proliferation Inferred from direct assay PubMed 11013214. Source: UniProtKB nucleocytoplasmic transport Non-traceable author statement PubMed 8589458. Source: GOC positive regulation of I-kappaB kinase/NF-kappaB cascade Inferred from direct assay PubMed 10356400. Source: UniProtKB positive regulation of epidermal growth factor receptor signaling pathway Non-traceable author statement PubMed 11244088. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from direct assay PubMed 15625236. Source: UniProtKB protein transport Inferred from electronic annotation. Source: UniProtKB-KW regulation of Ras protein signal transduction Non-traceable author statement PubMed 11553620. Source: UniProtKB regulation of glucose transport Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome transcription, DNA-dependent Inferred from direct assay PubMed 10373430. Source: UniProtKB transmembrane transport Traceable author statement. Source: Reactome viral reproduction Traceable author statement. Source: Reactome
Cellular_component	cytoplasm Non-traceable author statement PubMed 10373430. 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 PubMed 8589458. Source: UniProtKB ribonucleoprotein complex Inferred from direct assay PubMed 18809582. Source: MGI spindle pole Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	SH2 domain binding Inferred from direct assay PubMed 8650207. Source: UniProtKB chromatin binding Non-traceable author statement PubMed 11852044. Source: UniProtKB receptor signaling complex scaffold activity Inferred from direct assay PubMed 11244088. Source: UniProtKB structural constituent of nuclear pore Inferred from electronic annotation. Source: InterPro thyroid hormone receptor binding Inferred from sequence or structural similarity. Source: UniProtKB ubiquitin binding Inferred from direct assay PubMed 8702753. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ATXN7	O15265	2	EBI-347978,EBI-708350

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 Ref.8 Ref.9
	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.12		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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-283. Tissue: Pancreas, Skin and Urinary bladder.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-408, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-408, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"Hikeshi, a nuclear import carrier for hsp70s, protects cells from heat shock-induced nuclear damage." Kose S., Furuta M., Imamoto N. Cell 149:578-589(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH C11ORF73.
[12]	"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] [Europe PMC] [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. 17 interactions.

MINT

MINT-121394.

STRING

9606.ENSP00000305503.

PTM databases

GlycoSuiteDB

P37198.

PhosphoSite

P37198.

Polymorphism databases

DMDM

134047855.

Proteomic databases

PaxDb

P37198.

PRIDE

P37198.

Protocols and materials databases

DNASU

23636.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000352066; ENSP00000305503; ENSG00000213024.
ENST00000413454; ENSP00000387991; ENSG00000213024.
ENST00000422090; ENSP00000407331; ENSG00000213024.
ENST00000596217; ENSP00000471191; ENSG00000213024.
ENST00000597029; ENSP00000473192; ENSG00000213024.

GeneID

23636.

KEGG

hsa:23636.

UCSC

uc002pqx.3. 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

eggNOG

NOG12793.

HOGENOM

HOG000007693.

HOVERGEN

HBG052699.

InParanoid

P37198.

KO

K14306.

OMA

DQELEFI.

OrthoDB

EOG4TXBT3.

Enzyme and pathway databases

Reactome

REACT_111217. Metabolism.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.
REACT_6900. Immune System.

Gene expression databases

ArrayExpress

P37198.

Bgee

P37198.

CleanEx

HS_NUP62.

Genevestigator

P37198.

GermOnline

ENSG00000104951. Homo sapiens.

Family and domain databases

InterPro

IPR026010. NSP1/NUP62.
IPR007758. Nucleoporin_NSP1_C.
[Graphical view]

PANTHER

PTHR12084. PTHR12084. 1 hit.

Pfam

PF05064. Nsp1_C. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

GenomeRNAi

23636.

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:	May 1, 2013
This is version 139 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.