N62CL_HUMAN
ID N62CL_HUMAN Reviewed; 184 AA.
AC Q9H1M0; D3DUX4; Q8WVL6; Q9NXP2;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Nucleoporin-62 C-terminal-like protein;
GN Name=NUP62CL; Synonyms=NUP62L;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-177.
RC TISSUE=Colon;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT THR-177.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Bone marrow, and Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q9H1M0; O95994: AGR2; NbExp=6; IntAct=EBI-751933, EBI-712648;
CC Q9H1M0; O15294: OGT; NbExp=4; IntAct=EBI-751933, EBI-539828;
CC Q9H1M0; O15294-3: OGT; NbExp=3; IntAct=EBI-751933, EBI-11536584;
CC Q9H1M0; P78424: POU6F2; NbExp=3; IntAct=EBI-751933, EBI-12029004;
CC Q9H1M0; O95295: SNAPIN; NbExp=3; IntAct=EBI-751933, EBI-296723;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H1M0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H1M0-2; Sequence=VSP_021367, VSP_021368;
CC -!- SIMILARITY: Belongs to the nucleoporin NSP1/NUP62 family.
CC {ECO:0000305}.
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DR EMBL; AK000137; BAA90968.1; -; mRNA.
DR EMBL; AL390039; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471120; EAX02718.1; -; Genomic_DNA.
DR EMBL; CH471120; EAX02720.1; -; Genomic_DNA.
DR EMBL; BC016327; AAH16327.1; -; mRNA.
DR EMBL; BC017799; AAH17799.1; -; mRNA.
DR CCDS; CCDS14527.1; -. [Q9H1M0-1]
DR RefSeq; NP_060151.2; NM_017681.2. [Q9H1M0-1]
DR AlphaFoldDB; Q9H1M0; -.
DR SMR; Q9H1M0; -.
DR BioGRID; 120184; 37.
DR IntAct; Q9H1M0; 10.
DR MINT; Q9H1M0; -.
DR STRING; 9606.ENSP00000361544; -.
DR iPTMnet; Q9H1M0; -.
DR PhosphoSitePlus; Q9H1M0; -.
DR BioMuta; NUP62CL; -.
DR DMDM; 317373409; -.
DR MassIVE; Q9H1M0; -.
DR PaxDb; Q9H1M0; -.
DR PeptideAtlas; Q9H1M0; -.
DR PRIDE; Q9H1M0; -.
DR ProteomicsDB; 80427; -. [Q9H1M0-1]
DR Antibodypedia; 477; 32 antibodies from 13 providers.
DR DNASU; 54830; -.
DR Ensembl; ENST00000372466.8; ENSP00000361544.4; ENSG00000198088.10. [Q9H1M0-1]
DR Ensembl; ENST00000484614.5; ENSP00000433269.1; ENSG00000198088.10. [Q9H1M0-2]
DR GeneID; 54830; -.
DR KEGG; hsa:54830; -.
DR MANE-Select; ENST00000372466.8; ENSP00000361544.4; NM_017681.3; NP_060151.2.
DR UCSC; uc004ena.4; human. [Q9H1M0-1]
DR CTD; 54830; -.
DR DisGeNET; 54830; -.
DR GeneCards; NUP62CL; -.
DR HGNC; HGNC:25960; NUP62CL.
DR HPA; ENSG00000198088; Tissue enhanced (epididymis, fallopian tube).
DR neXtProt; NX_Q9H1M0; -.
DR OpenTargets; ENSG00000198088; -.
DR PharmGKB; PA145148360; -.
DR VEuPathDB; HostDB:ENSG00000198088; -.
DR eggNOG; KOG2196; Eukaryota.
DR GeneTree; ENSGT00940000162863; -.
DR HOGENOM; CLU_2721570_0_0_1; -.
DR InParanoid; Q9H1M0; -.
DR OMA; NAWDHIL; -.
DR OrthoDB; 1420505at2759; -.
DR PhylomeDB; Q9H1M0; -.
DR PathwayCommons; Q9H1M0; -.
DR SignaLink; Q9H1M0; -.
DR BioGRID-ORCS; 54830; 8 hits in 701 CRISPR screens.
DR ChiTaRS; NUP62CL; human.
DR GenomeRNAi; 54830; -.
DR Pharos; Q9H1M0; Tdark.
DR PRO; PR:Q9H1M0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9H1M0; protein.
DR Bgee; ENSG00000198088; Expressed in right uterine tube and 121 other tissues.
DR ExpressionAtlas; Q9H1M0; baseline and differential.
DR Genevisible; Q9H1M0; HS.
DR GO; GO:0044613; C:nuclear pore central transport channel; IBA:GO_Central.
DR GO; GO:0005543; F:phospholipid binding; IBA:GO_Central.
DR GO; GO:0017056; F:structural constituent of nuclear pore; IBA:GO_Central.
DR GO; GO:0006606; P:protein import into nucleus; IBA:GO_Central.
DR GO; GO:0006405; P:RNA export from nucleus; IBA:GO_Central.
DR InterPro; IPR026010; NSP1/NUP62.
DR InterPro; IPR007758; Nucleoporin_NSP1_C.
DR PANTHER; PTHR12084; PTHR12084; 2.
DR Pfam; PF05064; Nsp1_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Protein transport; Reference proteome;
KW Transport.
FT CHAIN 1..184
FT /note="Nucleoporin-62 C-terminal-like protein"
FT /id="PRO_0000257834"
FT COILED 117..151
FT /evidence="ECO:0000255"
FT VAR_SEQ 65..72
FT /note="SVVATPVM -> RFVFYMEK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021367"
FT VAR_SEQ 73..184
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021368"
FT VARIANT 54
FT /note="F -> L (in dbSNP:rs16987290)"
FT /id="VAR_050569"
FT VARIANT 177
FT /note="I -> T (in dbSNP:rs1298577)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3"
FT /id="VAR_028920"
SQ SEQUENCE 184 AA; 20837 MW; AF5CA4AC5DCEB344 CRC64;
MQFTSISNSL TSTAAIGLSF TTSTTTTATF TTNTTTTITS GFTVNQNQLL SRGFENLVPY
TSTVSVVATP VMTYGHLEGL INEWNLELED QEKYFLLQAT QVNAWDHTLI ENGEMIRILH
GEVNKVKLDQ KRLEQELDFI LSQQQELEFL LTYLEESTRD QSGLHYLQDA DEEHVEISTR
SAEF