NSUN7_HUMAN
ID NSUN7_HUMAN Reviewed; 718 AA.
AC Q8NE18; C9JI19; Q8N9K8; Q9H815;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Putative methyltransferase NSUN7;
DE EC=2.1.1.-;
DE AltName: Full=NOL1/NOP2/Sun domain family member 7;
GN Name=NSUN7;
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 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 423-718 (ISOFORM 1).
RC TISSUE=Cerebellum;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ALA-308.
RC TISSUE=Testis;
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 -!- FUNCTION: May have S-adenosyl-L-methionine-dependent methyl-transferase
CC activity. {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8NE18-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NE18-2; Sequence=VSP_025978, VSP_025979;
CC Name=3;
CC IsoId=Q8NE18-3; Sequence=VSP_025976, VSP_025977;
CC -!- SIMILARITY: Belongs to the class I-like SAM-binding methyltransferase
CC superfamily. RsmB/NOP family. {ECO:0000255|PROSITE-ProRule:PRU01023}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04325.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK024063; BAB14808.1; -; mRNA.
DR EMBL; AK094298; BAC04325.1; ALT_INIT; mRNA.
DR EMBL; AC131953; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036568; AAH36568.1; -; mRNA.
DR CCDS; CCDS3461.2; -. [Q8NE18-1]
DR CCDS; CCDS82917.1; -. [Q8NE18-2]
DR RefSeq; NP_001317577.1; NM_001330648.2. [Q8NE18-2]
DR AlphaFoldDB; Q8NE18; -.
DR SMR; Q8NE18; -.
DR IntAct; Q8NE18; 3.
DR STRING; 9606.ENSP00000371201; -.
DR iPTMnet; Q8NE18; -.
DR PhosphoSitePlus; Q8NE18; -.
DR BioMuta; NSUN7; -.
DR DMDM; 313104313; -.
DR MassIVE; Q8NE18; -.
DR PaxDb; Q8NE18; -.
DR PeptideAtlas; Q8NE18; -.
DR PRIDE; Q8NE18; -.
DR ProteomicsDB; 73113; -. [Q8NE18-1]
DR ProteomicsDB; 73114; -. [Q8NE18-2]
DR ProteomicsDB; 73115; -. [Q8NE18-3]
DR Antibodypedia; 11775; 40 antibodies from 12 providers.
DR DNASU; 79730; -.
DR Ensembl; ENST00000316607.5; ENSP00000319127.5; ENSG00000179299.17. [Q8NE18-2]
DR Ensembl; ENST00000381782.7; ENSP00000371201.2; ENSG00000179299.17. [Q8NE18-1]
DR GeneID; 79730; -.
DR KEGG; hsa:79730; -.
DR MANE-Select; ENST00000381782.7; ENSP00000371201.2; NM_024677.6; NP_078953.4.
DR UCSC; uc003gvi.5; human. [Q8NE18-1]
DR CTD; 79730; -.
DR DisGeNET; 79730; -.
DR GeneCards; NSUN7; -.
DR HGNC; HGNC:25857; NSUN7.
DR HPA; ENSG00000179299; Tissue enhanced (testis).
DR neXtProt; NX_Q8NE18; -.
DR OpenTargets; ENSG00000179299; -.
DR VEuPathDB; HostDB:ENSG00000179299; -.
DR eggNOG; KOG2360; Eukaryota.
DR GeneTree; ENSGT00940000157352; -.
DR HOGENOM; CLU_023514_0_0_1; -.
DR InParanoid; Q8NE18; -.
DR OMA; QIPTQHF; -.
DR OrthoDB; 1128973at2759; -.
DR PhylomeDB; Q8NE18; -.
DR TreeFam; TF314285; -.
DR PathwayCommons; Q8NE18; -.
DR SignaLink; Q8NE18; -.
DR BioGRID-ORCS; 79730; 12 hits in 1060 CRISPR screens.
DR ChiTaRS; NSUN7; human.
DR GenomeRNAi; 79730; -.
DR Pharos; Q8NE18; Tdark.
DR PRO; PR:Q8NE18; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8NE18; protein.
DR Bgee; ENSG00000179299; Expressed in sperm and 122 other tissues.
DR Genevisible; Q8NE18; HS.
DR GO; GO:0008168; F:methyltransferase activity; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR GO; GO:0032259; P:methylation; IEA:UniProtKB-KW.
DR Gene3D; 3.40.50.150; -; 1.
DR InterPro; IPR001678; MeTrfase_RsmB/NOP2.
DR InterPro; IPR042620; NSUN7.
DR InterPro; IPR029063; SAM-dependent_MTases_sf.
DR PANTHER; PTHR14663; PTHR14663; 1.
DR Pfam; PF01189; Methyltr_RsmB-F; 1.
DR SUPFAM; SSF53335; SSF53335; 1.
DR PROSITE; PS51686; SAM_MT_RSMB_NOP; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Methyltransferase; Reference proteome; RNA-binding;
KW S-adenosyl-L-methionine; Transferase.
FT CHAIN 1..718
FT /note="Putative methyltransferase NSUN7"
FT /id="PRO_0000289238"
FT REGION 536..557
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 578..616
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 694..718
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 578..607
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 694..710
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 439
FT /note="Nucleophile"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01023"
FT VAR_SEQ 276..277
FT /note="DK -> VN (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025976"
FT VAR_SEQ 278..718
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025977"
FT VAR_SEQ 467..475
FT /note="RLSPPVLPL -> SGTLLRQCL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025978"
FT VAR_SEQ 476..718
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025979"
FT VARIANT 308
FT /note="S -> A (in dbSNP:rs2437323)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032610"
FT VARIANT 622
FT /note="T -> A (in dbSNP:rs4861066)"
FT /id="VAR_059790"
FT CONFLICT 119
FT /note="I -> T (in Ref. 1; BAB14808)"
FT /evidence="ECO:0000305"
FT CONFLICT 650
FT /note="K -> E (in Ref. 1; BAC04325)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 718 AA; 81039 MW; AFC8B0615A78FB2D CRC64;
MLNSTGELEF SNEEDPEIIS QLTSLPLSGG KSSAGVPEKT GYPDSVYVMA ANIFQGIRIE
KSAQKVLIKY GNEPLRSLSE SEDQSFQRLS YELAFSALKY QDILETILID SCIFPSTTIP
DHLSSLIIVM LYDFQDRKFQ TRVLSDNEEP ISEVQEVENL LNSFKIKLAA ALARCRIKHD
ALSIYHILPE TVRKQELRAS TLPLYAWINT CKISPEEVYN NLKRRGYNKV KSVLHIDDKV
FAVDQHCYDV LIFPSHLKND LINIDLFKDY KLIFQDKSRS LAVHSVKALL NMDDDVLMVN
TGSWYTVSHM SILTNNNTSK VFVCGVQSQA KDPDLKTLFT KIGCKNIEIL HEKFINIESK
DHRLQKVKVI LLLPRCSGLG VSNPVEFILN EHEDTEFLKD HSQGGISVDK LHVLAQQQYE
QLTHAMKFTK AQAVVYCTCS VFPEENEAVV KKALEFQDLG NKGQPYRLSP PVLPLCSLKE
IQLSTDKFFR MEPSEITNGC FLSILTRERD PSETVSVNDV LARAAAKGLL DGIELGKSSK
REKKKKKSKT SLTKGATTDN GIQMKIAEFL NRETKASANL SETVTKPPLP QKNTAQVGAS
SQTRKPNKLA PHPAVPAFVK NTCPSRPRER QTHFLRPRPE DRMVALKPIK IVLPPVFMPF
SSPQGIRSRM PTQHLYCRWV APKALVPTCL PTHSLSRKEE KPKDDTPSSL LRPPRRWL
