NT5D2_HUMAN
ID NT5D2_HUMAN Reviewed; 520 AA.
AC Q9H857; C9JTZ6; E9PAL9; O95888; Q96C80; Q9H9Z8;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=5'-nucleotidase domain-containing protein 2;
DE EC=3.1.3.-;
GN Name=NT5DC2;
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 4).
RC TISSUE=Brain;
RA Mei G., Yu W., Gibbs R.A.;
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND PARTIAL NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Retinoblastoma, and Teratocarcinoma;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [4]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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 [5]
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9H857-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H857-2; Sequence=VSP_019952;
CC Name=3;
CC IsoId=Q9H857-3; Sequence=VSP_019952, VSP_019953;
CC Name=4;
CC IsoId=Q9H857-4; Sequence=VSP_019951;
CC -!- SIMILARITY: Belongs to the 5'(3')-deoxyribonucleotidase family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH14550.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14064.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF131781; AAD20044.1; -; mRNA.
DR EMBL; AK022504; BAB14064.1; ALT_INIT; mRNA.
DR EMBL; AK023995; BAB14763.1; -; mRNA.
DR EMBL; AC112215; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC014550; AAH14550.1; ALT_INIT; mRNA.
DR CCDS; CCDS2858.1; -. [Q9H857-1]
DR CCDS; CCDS46843.1; -. [Q9H857-2]
DR RefSeq; NP_001127703.1; NM_001134231.1. [Q9H857-2]
DR RefSeq; NP_075059.1; NM_022908.2. [Q9H857-1]
DR RefSeq; XP_005265463.1; XM_005265406.2. [Q9H857-4]
DR RefSeq; XP_006713368.1; XM_006713305.2. [Q9H857-4]
DR AlphaFoldDB; Q9H857; -.
DR SMR; Q9H857; -.
DR BioGRID; 122353; 98.
DR IntAct; Q9H857; 24.
DR MINT; Q9H857; -.
DR STRING; 9606.ENSP00000406933; -.
DR ChEMBL; CHEMBL4295945; -.
DR DEPOD; NT5DC2; -.
DR iPTMnet; Q9H857; -.
DR PhosphoSitePlus; Q9H857; -.
DR SwissPalm; Q9H857; -.
DR BioMuta; NT5DC2; -.
DR DMDM; 74733765; -.
DR EPD; Q9H857; -.
DR jPOST; Q9H857; -.
DR MassIVE; Q9H857; -.
DR MaxQB; Q9H857; -.
DR PaxDb; Q9H857; -.
DR PeptideAtlas; Q9H857; -.
DR PRIDE; Q9H857; -.
DR ProteomicsDB; 11660; -.
DR ProteomicsDB; 19043; -.
DR ProteomicsDB; 81179; -. [Q9H857-1]
DR ProteomicsDB; 81180; -. [Q9H857-2]
DR ProteomicsDB; 81181; -. [Q9H857-3]
DR ProteomicsDB; 81182; -. [Q9H857-4]
DR Antibodypedia; 46180; 75 antibodies from 16 providers.
DR DNASU; 64943; -.
DR Ensembl; ENST00000307076.8; ENSP00000302468.4; ENSG00000168268.11. [Q9H857-1]
DR Ensembl; ENST00000422318.7; ENSP00000406933.2; ENSG00000168268.11. [Q9H857-2]
DR Ensembl; ENST00000459839.5; ENSP00000419547.1; ENSG00000168268.11. [Q9H857-3]
DR GeneID; 64943; -.
DR KEGG; hsa:64943; -.
DR MANE-Select; ENST00000422318.7; ENSP00000406933.2; NM_001134231.2; NP_001127703.1. [Q9H857-2]
DR UCSC; uc003den.4; human. [Q9H857-1]
DR CTD; 64943; -.
DR DisGeNET; 64943; -.
DR GeneCards; NT5DC2; -.
DR HGNC; HGNC:25717; NT5DC2.
DR HPA; ENSG00000168268; Low tissue specificity.
DR neXtProt; NX_Q9H857; -.
DR OpenTargets; ENSG00000168268; -.
DR PharmGKB; PA143485561; -.
DR VEuPathDB; HostDB:ENSG00000168268; -.
DR eggNOG; KOG2470; Eukaryota.
DR GeneTree; ENSGT00940000159940; -.
DR HOGENOM; CLU_017845_5_1_1; -.
DR OMA; WARYHEM; -.
DR OrthoDB; 858908at2759; -.
DR PhylomeDB; Q9H857; -.
DR TreeFam; TF323990; -.
DR PathwayCommons; Q9H857; -.
DR SignaLink; Q9H857; -.
DR BioGRID-ORCS; 64943; 14 hits in 1078 CRISPR screens.
DR ChiTaRS; NT5DC2; human.
DR GenomeRNAi; 64943; -.
DR Pharos; Q9H857; Tbio.
DR PRO; PR:Q9H857; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9H857; protein.
DR Bgee; ENSG00000168268; Expressed in ganglionic eminence and 145 other tissues.
DR ExpressionAtlas; Q9H857; baseline and differential.
DR Genevisible; Q9H857; HS.
DR GO; GO:0008253; F:5'-nucleotidase activity; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR Gene3D; 3.40.50.1000; -; 1.
DR InterPro; IPR036412; HAD-like_sf.
DR InterPro; IPR008380; HAD-SF_hydro_IG_5-nucl.
DR InterPro; IPR023214; HAD_sf.
DR InterPro; IPR016695; Pur_nucleotidase.
DR PANTHER; PTHR12103; PTHR12103; 1.
DR Pfam; PF05761; 5_nucleotid; 1.
DR PIRSF; PIRSF017434; Purine_5'-nucleotidase; 1.
DR SUPFAM; SSF56784; SSF56784; 1.
DR TIGRFAMs; TIGR02244; HAD-IG-Ncltidse; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Hydrolase; Magnesium; Metal-binding;
KW Reference proteome.
FT CHAIN 1..520
FT /note="5'-nucleotidase domain-containing protein 2"
FT /id="PRO_0000247224"
FT ACT_SITE 73
FT /note="Nucleophile"
FT /evidence="ECO:0000250"
FT ACT_SITE 75
FT /note="Proton donor"
FT /evidence="ECO:0000250"
FT BINDING 73
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000250"
FT BINDING 75
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000250"
FT BINDING 358
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..130
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_019951"
FT VAR_SEQ 1..40
FT /note="MRVESGSAQERGILLESLSTLLEKTTASHEGRAPGNRELT -> MAGAGLRA
FT AARRWLLCGGHGGPRAASSSPSCPGCGPPGPGAHCPGVPRSAPAQAPTSGADLSAHLWA
FT RYQDMRRLVH (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_019952"
FT VAR_SEQ 103..127
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_019953"
FT VARIANT 91
FT /note="S -> R (in dbSNP:rs35920544)"
FT /id="VAR_034143"
FT CONFLICT 59
FT /note="N -> D (in Ref. 2; BAB14064)"
FT /evidence="ECO:0000305"
FT CONFLICT 475
FT /note="C -> R (in Ref. 2; BAB14064)"
FT /evidence="ECO:0000305"
FT CONFLICT 491
FT /note="P -> S (in Ref. 2; BAB14064)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 520 AA; 60719 MW; B80C050D404178ED CRC64;
MRVESGSAQE RGILLESLST LLEKTTASHE GRAPGNRELT DLLPPEVCSL LNPAAIYANN
EISLRDVEVY GFDYDYTLAQ YADALHPEIF STARDILIEH YKYPEGIRKY DYNPSFAIRG
LHYDIQKSLL MKIDAFHYVQ LGTAYRGLQP VPDEEVIELY GGTQHIPLYQ MSGFYGKGPS
IKQFMDIFSL PEMALLSCVV DYFLGHSLEF DQAHLYKDVT DAIRDVHVKG LMYQWIEQDM
EKYILRGDET FAVLSRLVAH GKQLFLITNS PFSFVDKGMR HMVGPDWRQL FDVVIVQADK
PSFFTDRRKP FRKLDEKGSL QWDRITRLEK GKIYRQGNLF DFLRLTEWRG PRVLYFGDHL
YSDLADLMLR HGWRTGAIIP ELEREIRIIN TEQYMHSLTW QQALTGLLER MQTYQDAESR
QVLAAWMKER QELRCITKAL FNAQFGSIFR TFHNPTYFSR RLVRFSDLYM ASLSCLLNYR
VDFTFYPRRT PLQHEAPLWM DQLCTGCMKT PFLGDMAHIR
