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Q9H0P0 (5NT3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytosolic 5'-nucleotidase 3A

EC=3.1.3.5
Alternative name(s):
Cytosolic 5'-nucleotidase 3
Cytosolic 5'-nucleotidase III
Short name=cN-III
Pyrimidine 5'-nucleotidase 1
Short name=P5'N-1
Short name=P5N-1
Short name=PN-I
Uridine 5'-monophosphate hydrolase 1
p36
Gene names
Name:NT5C3A
Synonyms:NT5C3, P5N1, UMPH1
ORF Names:HSPC233
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length336 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Can act both as nucleotidase and as phosphotransferase.

Catalytic activity

A 5'-ribonucleotide + H2O = a ribonucleoside + phosphate.

Subunit structure

Monomer. Ref.12

Subcellular location

Cytoplasm Potential Ref.11.

Isoform 2: Endoplasmic reticulum Ref.11.

Tissue specificity

Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes. Ref.2 Ref.3

Induction

Isoform 2 is induced by interferon alpha in Raji cells in association with lupus inclusions. Ref.11

Involvement in disease

P5N deficiency (P5ND) [MIM:266120]: Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the pyrimidine 5'-nucleotidase family.

Biophysicochemical properties

Kinetic parameters:

KM=66 µM for CMP Ref.12

Sequence caution

The sequence AAF36153.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAG33630.1 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
   Biological processNucleotide metabolism
   Cellular componentCytoplasm
Endoplasmic reticulum
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   LigandMagnesium
Metal-binding
Nucleotide-binding
   Molecular functionHydrolase
Transferase
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processadenosine metabolic process

Inferred from electronic annotation. Source: Ensembl

dephosphorylation

Inferred from direct assay Ref.1. Source: GOC

nucleobase-containing small molecule metabolic process

Traceable author statement. Source: Reactome

nucleotide metabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

pyrimidine nucleobase metabolic process

Traceable author statement. Source: Reactome

pyrimidine nucleoside catabolic process

Traceable author statement. Source: Reactome

pyrimidine nucleoside metabolic process

Non-traceable author statement Ref.1. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Inferred from direct assay Ref.11. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

endoplasmic reticulum

Inferred from direct assay Ref.11. Source: UniProtKB

mitochondrion

Inferred from electronic annotation. Source: Ensembl

   Molecular_function2'-phosphotransferase activity

Non-traceable author statement PubMed 9428647. Source: UniProtKB

5'-nucleotidase activity

Inferred from direct assay Ref.1. Source: UniProtKB

magnesium ion binding

Non-traceable author statement PubMed 11795870. Source: UniProtKB

nucleotide binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q9H0P0-4)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 1 (identifier: Q9H0P0-1)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MRAPSMDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIE → MTNQESAVHVK
Isoform 3 (identifier: Q9H0P0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
Isoform 4 (identifier: Q9H0P0-3)

Also known as: P5N-R;

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 336336Cytosolic 5'-nucleotidase 3A
PRO_0000064387

Regions

Region203 – 2042Substrate binding

Sites

Active site881Nucleophile
Active site901Proton donor
Metal binding881Magnesium
Metal binding901Magnesium; via carbonyl oxygen
Metal binding2771Magnesium
Binding site2521Substrate

Natural variations

Alternative sequence1 – 5151Missing in isoform 4.
VSP_015624
Alternative sequence1 – 5050MRAPS…TKIIE → MTNQESAVHVK in isoform 1.
VSP_021565
Alternative sequence1 – 5050Missing in isoform 3.
VSP_015623
Natural variant1371D → V in P5N deficiency; may alter protein structure. Ref.2 Ref.12
VAR_023511
Natural variant1811L → P in P5N deficiency; may alter protein structure and markedly decreases activity. Ref.3 Ref.12
VAR_023512
Natural variant2291N → S in P5N deficiency; markedly decreases activity. Ref.12 Ref.16
VAR_023513
Natural variant2801G → R in P5N deficiency; markedly decreases activity. Ref.3 Ref.12
VAR_023514

Experimental info

Mutagenesis881D → N: Loss of nucleotidase and phosphotransferase activity. Ref.12
Mutagenesis891F → A: Increases Km for CMP 45-fold. Reduces nucleotidase and phosphotransferase activity by 99%. Ref.12
Mutagenesis901D → N: Loss of nucleotidase and phosphotransferase activity. Ref.12
Mutagenesis1351E → D: No effect on nucleotidase activity. Reduces phosphotransferase activity by 99%. Ref.12
Mutagenesis2331F → A: Reduces nucleotidase and phosphotransferase activity by 97%. Ref.12
Sequence conflict951R → K AA sequence Ref.11
Sequence conflict1441E → Q AA sequence Ref.11
Sequence conflict3291N → R AA sequence Ref.11

Secondary structure

................................................. 336
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified November 14, 2006. Version 3.
Checksum: C5D75CCF1BB61021

FASTA33637,948
        10         20         30         40         50         60 
MRAPSMDRAA VARVGAVASA SVCALVAGVV LAQYIFTLKR KTGRKTKIIE MMPEFQKSSV 

        70         80         90        100        110        120 
RIKNPTRVEE IICGLIKGGA AKLQIITDFD MTLSRFSYKG KRCPTCHNII DNCKLVTDEC 

       130        140        150        160        170        180 
RKKLLQLKEK YYAIEVDPVL TVEEKYPYMV EWYTKSHGLL VQQALPKAKL KEIVAESDVM 

       190        200        210        220        230        240 
LKEGYENFFD KLQQHSIPVF IFSAGIGDVL EEVIRQAGVY HPNVKVVSNF MDFDETGVLK 

       250        260        270        280        290        300 
GFKGELIHVF NKHDGALRNT EYFNQLKDNS NIILLGDSQG DLRMADGVAN VEHILKIGYL 

       310        320        330 
NDRVDELLEK YMDSYDIVLV QDESLEVANS ILQKIL 

« Hide

Isoform 1 [UniParc].

Checksum: FB91A66DD2273598
Show »

FASTA29733,915
Isoform 3 [UniParc].

Checksum: 29313E2790194ED9
Show »

FASTA28632,690
Isoform 4 (P5N-R) [UniParc].

Checksum: CB3B6812C90A5578
Show »

FASTA28532,559

References

« Hide 'large scale' references
[1]"Human erythrocyte pyrimidine 5'-nucleotidase, PN-I, is identical to p36, a protein associated to lupus inclusion formation in response to alpha-interferon."
Amici A., Emanuelli M., Raffaelli N., Ruggieri S., Saccucci F., Magni G.
Blood 96:1596-1598(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), PARTIAL PROTEIN SEQUENCE.
Tissue: Placenta.
[2]"Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency."
Marinaki A.M., Escuredo E., Duley J.A., Simmonds H.A., Amici A., Naponelli V., Magni G., Seip M., Ben-Bassat I., Harley E.H., Thein S.L., Rees D.C.
Blood 97:3327-3332(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, VARIANT P5N DEFICIENCY VAL-137.
[3]"Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency."
Kanno H., Takizawa T., Miwa S., Fujii H.
Br. J. Haematol. 126:265-271(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, VARIANTS P5N DEFICIENCY PRO-181 AND ARG-280, CHARACTERIZATION OF VARIANTS P5N DEFICIENCY PRO-181 AND ARG-280.
[4]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Kidney.
[5]"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. expand/collapse author list , 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] (ISOFORMS 2 AND 3).
Tissue: Brain cortex and Thalamus.
[6]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[7]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]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. expand/collapse author list , 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].
[9]"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] (ISOFORMS 1 AND 2).
Tissue: Brain, Lung, Muscle and Prostate.
[10]"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. expand/collapse author list , Gu J., Chen S.-J., Chen Z.
Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 29-336 (ISOFORM 2).
Tissue: Umbilical cord blood.
[11]"Purification, microsequencing, and immunolocalization of p36, a new interferon-alpha-induced protein that is associated with human lupus inclusions."
Rich S.A., Bose M., Tempst P., Rudofsky U.H.
J. Biol. Chem. 271:1118-1126(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 83-95; 131-147; 226-240; 268-296 AND 311-329, INDUCTION, SUBCELLULAR LOCATION.
[12]"Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase."
Amici A., Ciccioli K., Naponelli V., Raffaelli N., Magni G.
Cell. Mol. Life Sci. 62:1613-1620(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 1-11, SUBUNIT, BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANTS P5N DEFICIENCY VAL-137; PRO-181; SER-229 AND ARG-280, MUTAGENESIS OF ASP-88; PHE-89; ASP-90; GLU-135 AND PHE-233.
[13]"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].
[14]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition."
Wallden K., Stenmark P., Nyman T., Flodin S., Graeslund S., Loppnau P., Bianchi V., Nordlund P.
J. Biol. Chem. 282:17828-17836(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.67 ANGSTROMS) OF 64-336 IN COMPLEX WITH PHOSPHATE AND MAGNESIUM IONS.
[16]"Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency."
Bianchi P., Fermo E., Alfinito F., Vercellati C., Baserga M., Ferraro F., Guzzo I., Rotoli B., Zanella A.
Br. J. Haematol. 122:847-851(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT P5N DEFICIENCY SER-229.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF312735 mRNA. Translation: AAG33630.1. Sequence problems.
AL136716 mRNA. Translation: CAB66650.1.
AK290118 mRNA. Translation: BAF82807.1.
AK314109 mRNA. Translation: BAG36802.1.
CR533518 mRNA. Translation: CAG38549.1.
AC074338 Genomic DNA. No translation available.
AC083863 Genomic DNA. No translation available.
CH471073 Genomic DNA. Translation: EAW94007.1.
CH471073 Genomic DNA. Translation: EAW94008.1.
BC013292 mRNA. Translation: AAH13292.2.
BC015856 mRNA. Translation: AAH15856.2.
BC066914 mRNA. Translation: AAH66914.1.
BC071652 mRNA. Translation: AAH71652.2.
AF151067 mRNA. Translation: AAF36153.1. Different initiation.
CCDSCCDS34616.1. [Q9H0P0-4]
CCDS34617.1. [Q9H0P0-1]
CCDS55101.1. [Q9H0P0-3]
RefSeqNP_001002009.1. NM_001002009.2. [Q9H0P0-1]
NP_001002010.1. NM_001002010.2. [Q9H0P0-4]
NP_001159590.1. NM_001166118.2. [Q9H0P0-3]
NP_057573.2. NM_016489.12. [Q9H0P0-1]
UniGeneHs.487933.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CN1X-ray2.67A64-336[»]
2JGAX-ray3.01A64-336[»]
2VKQX-ray2.50A64-336[»]
ProteinModelPortalQ9H0P0.
SMRQ9H0P0. Positions 64-336.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119408. 6 interactions.
IntActQ9H0P0. 3 interactions.
MINTMINT-3065844.

PTM databases

PhosphoSiteQ9H0P0.

Polymorphism databases

DMDM117949804.

Proteomic databases

MaxQBQ9H0P0.
PaxDbQ9H0P0.
PRIDEQ9H0P0.

Protocols and materials databases

DNASU51251.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000242210; ENSP00000242210; ENSG00000122643. [Q9H0P0-4]
ENST00000381626; ENSP00000371039; ENSG00000122643. [Q9H0P0-3]
ENST00000396152; ENSP00000379456; ENSG00000122643. [Q9H0P0-1]
ENST00000405342; ENSP00000385261; ENSG00000122643. [Q9H0P0-1]
ENST00000409467; ENSP00000387166; ENSG00000122643. [Q9H0P0-3]
GeneID51251.
KEGGhsa:51251.
UCSCuc003tdi.4. human. [Q9H0P0-1]
uc003tdk.4. human. [Q9H0P0-4]

Organism-specific databases

CTD51251.
GeneCardsGC07M033056.
HGNCHGNC:17820. NT5C3A.
HPAHPA029058.
MIM266120. phenotype.
606224. gene.
neXtProtNX_Q9H0P0.
Orphanet35120. Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency.
PharmGKBPA31802.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG266578.
HOVERGENHBG059750.
InParanoidQ9H0P0.
KOK01081.
OMANTEYFKQ.
PhylomeDBQ9H0P0.
TreeFamTF314663.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
SABIO-RKQ9H0P0.

Gene expression databases

BgeeQ9H0P0.
GenevestigatorQ9H0P0.

Family and domain databases

Gene3D3.40.50.1000. 2 hits.
InterProIPR023214. HAD-like_dom.
IPR006434. Pyrimidine_nucleotidase_eu.
[Graphical view]
PANTHERPTHR13045. PTHR13045. 1 hit.
PfamPF05822. UMPH-1. 1 hit.
[Graphical view]
SUPFAMSSF56784. SSF56784. 1 hit.
TIGRFAMsTIGR01544. HAD-SF-IE. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceQ9H0P0.
GeneWikiNT5C3.
GenomeRNAi51251.
NextBio54391.
PROQ9H0P0.
SOURCESearch...

Entry information

Entry name5NT3A_HUMAN
AccessionPrimary (citable) accession number: Q9H0P0
Secondary accession number(s): A8K253 expand/collapse secondary AC list , B2RAA5, B8ZZC4, Q6IPZ1, Q6NXS6, Q7L3G6, Q9P0P5, Q9UC42, Q9UC43, Q9UC44, Q9UC45
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: November 14, 2006
Last modified: July 9, 2014
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM