NUP37_HUMAN
ID NUP37_HUMAN Reviewed; 326 AA.
AC Q8NFH4; Q9H644;
DT 27-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Nucleoporin Nup37;
DE Short=p37;
DE AltName: Full=Nup107-160 subcomplex subunit Nup37;
GN Name=NUP37;
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 [MRNA], AND SUBCELLULAR LOCATION.
RX PubMed=12196509; DOI=10.1083/jcb.200206106;
RA Cronshaw J.M., Krutchinsky A.N., Zhang W., Chait B.T., Matunis M.J.;
RT "Proteomic analysis of the mammalian nuclear pore complex.";
RL J. Cell Biol. 158:915-927(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cervix;
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-326.
RC TISSUE=Small intestine;
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 [4]
RP IDENTIFICATION IN THE NUP107-160 COMPLEX, AND SUBCELLULAR LOCATION.
RX PubMed=15146057; DOI=10.1091/mbc.e03-12-0878;
RA Loieodice I., Alves A., Rabut G., Van Overbeek M., Ellenberg J.,
RA Sibarita J.-B., Doye V.;
RT "The entire Nup107-160 complex, including three new members, is targeted as
RT one entity to kinetochores in mitosis.";
RL Mol. Biol. Cell 15:3333-3344(2004).
RN [5]
RP FUNCTION OF THE NUP107-160 COMPLEX.
RX PubMed=17363900; DOI=10.1038/sj.emboj.7601642;
RA Zuccolo M., Alves A., Galy V., Bolhy S., Formstecher E., Racine V.,
RA Sibarita J.-B., Fukagawa T., Shiekhattar R., Yen T., Doye V.;
RT "The human Nup107-160 nuclear pore subcomplex contributes to proper
RT kinetochore functions.";
RL EMBO J. 26:1853-1864(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND IDENTIFICATION IN THE NUP107-160
RP COMPLEX.
RX PubMed=17360435; DOI=10.1073/pnas.0700058104;
RA Glavy J.S., Krutchinsky A.N., Cristea I.M., Berke I.C., Boehmer T.,
RA Blobel G., Chait B.T.;
RT "Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160
RT subcomplex.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:3811-3816(2007).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP FUNCTION, INVOLVEMENT IN MCPH24, VARIANT MCPH24 306-ARG--VAL-326 DEL, AND
RP CHARACTERIZATION OF VARIANT MCPH24 306-ARG--VAL-326 DEL.
RX PubMed=30179222; DOI=10.1172/jci98688;
RA Braun D.A., Lovric S., Schapiro D., Schneider R., Marquez J., Asif M.,
RA Hussain M.S., Daga A., Widmeier E., Rao J., Ashraf S., Tan W., Lusk C.P.,
RA Kolb A., Jobst-Schwan T., Schmidt J.M., Hoogstraten C.A., Eddy K.,
RA Kitzler T.M., Shril S., Moawia A., Schrage K., Khayyat A.I.A., Lawson J.A.,
RA Gee H.Y., Warejko J.K., Hermle T., Majmundar A.J., Hugo H., Budde B.,
RA Motameny S., Altmueller J., Noegel A.A., Fathy H.M., Gale D.P.,
RA Waseem S.S., Khan A., Kerecuk L., Hashmi S., Mohebbi N., Ettenger R.,
RA Serdaroglu E., Alhasan K.A., Hashem M., Goncalves S., Ariceta G.,
RA Ubetagoyena M., Antonin W., Baig S.M., Alkuraya F.S., Shen Q., Xu H.,
RA Antignac C., Lifton R.P., Mane S., Nuernberg P., Khokha M.K.,
RA Hildebrandt F.;
RT "Mutations in multiple components of the nuclear pore complex cause
RT nephrotic syndrome.";
RL J. Clin. Invest. 128:4313-4328(2018).
CC -!- FUNCTION: Component of the Nup107-160 subcomplex of the nuclear pore
CC complex (NPC). The Nup107-160 subcomplex is required for the assembly
CC of a functional NPC. The Nup107-160 subcomplex is also required for
CC normal kinetochore microtubule attachment, mitotic progression and
CC chromosome segregation. {ECO:0000269|PubMed:17363900,
CC ECO:0000269|PubMed:30179222}.
CC -!- SUBUNIT: Component of the Nup107-160 subcomplex of the nuclear pore
CC complex (NPC). The Nup107-160 subcomplex includes NUP160, NUP133,
CC NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13.
CC {ECO:0000269|PubMed:15146057, ECO:0000269|PubMed:17360435}.
CC -!- INTERACTION:
CC Q8NFH4; P55212: CASP6; NbExp=3; IntAct=EBI-2563158, EBI-718729;
CC Q8NFH4; P13473-2: LAMP2; NbExp=3; IntAct=EBI-2563158, EBI-21591415;
CC Q8NFH4; P55735: SEC13; NbExp=3; IntAct=EBI-2563158, EBI-1046596;
CC -!- SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore. Nucleus,
CC nuclear pore complex.
CC -!- DISEASE: Microcephaly 24, primary, autosomal recessive (MCPH24)
CC [MIM:618179]: A form of microcephaly, a disease defined as a head
CC circumference more than 3 standard deviations below the age, sex and
CC ethnically matched mean. Brain weight is markedly reduced and the
CC cerebral cortex is disproportionately small. MCPH24 patients
CC additionally manifest mildly impaired intellectual development,
CC cerebellar vermis hypoplasia, and fifth finger clinodactyly.
CC {ECO:0000269|PubMed:30179222}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15422.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF514994; AAM76705.1; -; mRNA.
DR EMBL; BC000861; AAH00861.2; -; mRNA.
DR EMBL; AK026271; BAB15422.1; ALT_INIT; mRNA.
DR CCDS; CCDS9089.1; -.
DR RefSeq; NP_076962.2; NM_024057.3.
DR PDB; 5A9Q; EM; 23.00 A; 2/K/T/b=1-326.
DR PDB; 7PEQ; EM; 35.00 A; AK/BK/CK/DK=1-326.
DR PDBsum; 5A9Q; -.
DR PDBsum; 7PEQ; -.
DR AlphaFoldDB; Q8NFH4; -.
DR SMR; Q8NFH4; -.
DR BioGRID; 122491; 57.
DR ComplexPortal; CPX-873; Nuclear pore complex.
DR CORUM; Q8NFH4; -.
DR IntAct; Q8NFH4; 34.
DR MINT; Q8NFH4; -.
DR STRING; 9606.ENSP00000448054; -.
DR TCDB; 1.I.1.1.3; the nuclear pore complex (npc) family.
DR GlyGen; Q8NFH4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NFH4; -.
DR PhosphoSitePlus; Q8NFH4; -.
DR SwissPalm; Q8NFH4; -.
DR BioMuta; NUP37; -.
DR DMDM; 27923820; -.
DR EPD; Q8NFH4; -.
DR jPOST; Q8NFH4; -.
DR MassIVE; Q8NFH4; -.
DR MaxQB; Q8NFH4; -.
DR PaxDb; Q8NFH4; -.
DR PeptideAtlas; Q8NFH4; -.
DR PRIDE; Q8NFH4; -.
DR ProteomicsDB; 73306; -.
DR Antibodypedia; 55085; 110 antibodies from 15 providers.
DR DNASU; 79023; -.
DR Ensembl; ENST00000251074.5; ENSP00000251074.1; ENSG00000075188.9.
DR Ensembl; ENST00000552283.6; ENSP00000448054.1; ENSG00000075188.9.
DR GeneID; 79023; -.
DR KEGG; hsa:79023; -.
DR MANE-Select; ENST00000552283.6; ENSP00000448054.1; NM_024057.4; NP_076962.2.
DR UCSC; uc001tjc.4; human.
DR CTD; 79023; -.
DR DisGeNET; 79023; -.
DR GeneCards; NUP37; -.
DR HGNC; HGNC:29929; NUP37.
DR HPA; ENSG00000075188; Low tissue specificity.
DR MalaCards; NUP37; -.
DR MIM; 609264; gene.
DR MIM; 618179; phenotype.
DR neXtProt; NX_Q8NFH4; -.
DR OpenTargets; ENSG00000075188; -.
DR Orphanet; 656; Genetic steroid-resistant nephrotic syndrome.
DR PharmGKB; PA134948997; -.
DR VEuPathDB; HostDB:ENSG00000075188; -.
DR eggNOG; KOG0266; Eukaryota.
DR GeneTree; ENSGT00390000010777; -.
DR HOGENOM; CLU_074370_0_0_1; -.
DR InParanoid; Q8NFH4; -.
DR OMA; GGMAWHQ; -.
DR OrthoDB; 921692at2759; -.
DR PhylomeDB; Q8NFH4; -.
DR TreeFam; TF325769; -.
DR PathwayCommons; Q8NFH4; -.
DR Reactome; R-HSA-1169408; ISG15 antiviral mechanism.
DR Reactome; R-HSA-141444; Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal.
DR Reactome; R-HSA-159227; Transport of the SLBP independent Mature mRNA.
DR Reactome; R-HSA-159230; Transport of the SLBP Dependant Mature mRNA.
DR Reactome; R-HSA-159231; Transport of Mature mRNA Derived from an Intronless Transcript.
DR Reactome; R-HSA-159236; Transport of Mature mRNA derived from an Intron-Containing Transcript.
DR Reactome; R-HSA-165054; Rev-mediated nuclear export of HIV RNA.
DR Reactome; R-HSA-168271; Transport of Ribonucleoproteins into the Host Nucleus.
DR Reactome; R-HSA-168276; NS1 Mediated Effects on Host Pathways.
DR Reactome; R-HSA-168325; Viral Messenger RNA Synthesis.
DR Reactome; R-HSA-168333; NEP/NS2 Interacts with the Cellular Export Machinery.
DR Reactome; R-HSA-170822; Regulation of Glucokinase by Glucokinase Regulatory Protein.
DR Reactome; R-HSA-180746; Nuclear import of Rev protein.
DR Reactome; R-HSA-180910; Vpr-mediated nuclear import of PICs.
DR Reactome; R-HSA-191859; snRNP Assembly.
DR Reactome; R-HSA-2467813; Separation of Sister Chromatids.
DR Reactome; R-HSA-2500257; Resolution of Sister Chromatid Cohesion.
DR Reactome; R-HSA-3108214; SUMOylation of DNA damage response and repair proteins.
DR Reactome; R-HSA-3232142; SUMOylation of ubiquitinylation proteins.
DR Reactome; R-HSA-3301854; Nuclear Pore Complex (NPC) Disassembly.
DR Reactome; R-HSA-3371453; Regulation of HSF1-mediated heat shock response.
DR Reactome; R-HSA-4085377; SUMOylation of SUMOylation proteins.
DR Reactome; R-HSA-4551638; SUMOylation of chromatin organization proteins.
DR Reactome; R-HSA-4570464; SUMOylation of RNA binding proteins.
DR Reactome; R-HSA-4615885; SUMOylation of DNA replication proteins.
DR Reactome; R-HSA-5578749; Transcriptional regulation by small RNAs.
DR Reactome; R-HSA-5619107; Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC).
DR Reactome; R-HSA-5663220; RHO GTPases Activate Formins.
DR Reactome; R-HSA-6784531; tRNA processing in the nucleus.
DR Reactome; R-HSA-68877; Mitotic Prometaphase.
DR Reactome; R-HSA-9609690; HCMV Early Events.
DR Reactome; R-HSA-9610379; HCMV Late Events.
DR Reactome; R-HSA-9615933; Postmitotic nuclear pore complex (NPC) reformation.
DR Reactome; R-HSA-9648025; EML4 and NUDC in mitotic spindle formation.
DR Reactome; R-HSA-9705671; SARS-CoV-2 activates/modulates innate and adaptive immune responses.
DR SignaLink; Q8NFH4; -.
DR SIGNOR; Q8NFH4; -.
DR BioGRID-ORCS; 79023; 65 hits in 1084 CRISPR screens.
DR ChiTaRS; NUP37; human.
DR GenomeRNAi; 79023; -.
DR Pharos; Q8NFH4; Tbio.
DR PRO; PR:Q8NFH4; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8NFH4; protein.
DR Bgee; ENSG00000075188; Expressed in oocyte and 185 other tissues.
DR ExpressionAtlas; Q8NFH4; baseline and differential.
DR Genevisible; Q8NFH4; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0000776; C:kinetochore; IEA:UniProtKB-KW.
DR GO; GO:0005635; C:nuclear envelope; IDA:ComplexPortal.
DR GO; GO:0005643; C:nuclear pore; IC:ComplexPortal.
DR GO; GO:0031080; C:nuclear pore outer ring; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0007059; P:chromosome segregation; IEA:UniProtKB-KW.
DR GO; GO:0051028; P:mRNA transport; IEA:UniProtKB-KW.
DR GO; GO:0006913; P:nucleocytoplasmic transport; IC:ComplexPortal.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR037626; NUP37.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR22806; PTHR22806; 1.
DR Pfam; PF00400; WD40; 1.
DR SMART; SM00320; WD40; 3.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell cycle; Cell division; Centromere; Chromosome;
KW Chromosome partition; Disease variant; Kinetochore; Mitosis;
KW mRNA transport; Nuclear pore complex; Nucleus; Primary microcephaly;
KW Protein transport; Reference proteome; Repeat; Translocation; Transport;
KW WD repeat.
FT CHAIN 1..326
FT /note="Nucleoporin Nup37"
FT /id="PRO_0000051109"
FT REPEAT 6..54
FT /note="WD 1"
FT REPEAT 61..109
FT /note="WD 2"
FT REPEAT 115..154
FT /note="WD 3"
FT REPEAT 159..195
FT /note="WD 4"
FT REPEAT 199..237
FT /note="WD 5"
FT REPEAT 242..282
FT /note="WD 6"
FT REPEAT 287..324
FT /note="WD 7"
FT VARIANT 306..326
FT /note="Missing (in MCPH24; reduced mutant protein levels;
FT impairs assembly of nuclear pore complex as indicated by
FT lower number of nuclear pores in patient fibroblasts)"
FT /evidence="ECO:0000269|PubMed:30179222"
FT /id="VAR_081367"
SQ SEQUENCE 326 AA; 36708 MW; 188E6D9D0CDF2DD7 CRC64;
MKQDASRNAA YTVDCEDYVH VVEFNPFENG DSGNLIAYGG NNYVVIGTCT FQEEEADVEG
IQYKTLRTFH HGVRVDGIAW SPETRLDSLP PVIKFCTSAA DMKIRLFTSD LQDKNEYKVL
EGHTDFINGL VFDPKEGQEI ASVSDDHTCR IWNLEGVQTA HFVLHSPGMS VCWHPEETFK
LMVAEKNGTI RFYDLLAQQA ILSLESEQVP LMSAHWCLKN TFKVGAVAGN DWLIWDITRS
SYPQNKRPVH MDRACLFRWS TISENLFATT GYPGKMASQF QIHHLGHPQP ILMGSVAVGS
GLSWHRTLPL CVIGGDHKLL FWVTEV
