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Q9BQG2 (NUD12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peroxisomal NADH pyrophosphatase NUDT12

EC=3.6.1.22
Alternative name(s):
Nucleoside diphosphate-linked moiety X motif 12
Short name=Nudix motif 12
Gene names
Name:NUDT12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length462 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)+, ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. Ref.5

Catalytic activity

NAD+ + H2O = AMP + NMN. Ref.5

Cofactor

Magnesium or manganese By similarity.

Subcellular location

Peroxisome Ref.5.

Sequence similarities

Belongs to the Nudix hydrolase family. NudC subfamily.

Contains 3 ANK repeats.

Contains 1 nudix hydrolase domain.

Biophysicochemical properties

Kinetic parameters:

KM=11 µM for NADH Ref.5

KM=16 µM for NADPH

KM=190 µM for NAD

pH dependence:

Optimum pH is 8-9.

Ontologies

Keywords
   Cellular componentPeroxisome
   Coding sequence diversityPolymorphism
   DomainANK repeat
Repeat
   LigandMagnesium
Manganese
Metal-binding
NAD
NADP
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processNAD catabolic process

Inferred from direct assay Ref.5. Source: UniProtKB

NADP catabolic process

Inferred from direct assay Ref.5. Source: UniProtKB

   Cellular_componentnucleus

Inferred from direct assay. Source: LIFEdb

peroxisome

Inferred from direct assay Ref.5. Source: UniProtKB

   Molecular_functionNAD+ diphosphatase activity

Inferred from direct assay Ref.5. Source: UniProtKB

NADH pyrophosphatase activity

Inferred from direct assay Ref.5. Source: UniProtKB

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 462462Peroxisomal NADH pyrophosphatase NUDT12
PRO_0000056956

Regions

Repeat11 – 4030ANK 1
Repeat45 – 7430ANK 2
Repeat78 – 9821ANK 3
Domain319 – 453135Nudix hydrolase
Motif355 – 37622Nudix box
Motif460 – 4623Microbody targeting signal Probable

Sites

Metal binding3701Magnesium or manganese By similarity
Metal binding3741Magnesium or manganese By similarity

Amino acid modifications

Modified residue1851N6-succinyllysine By similarity
Modified residue2921N6-succinyllysine By similarity

Natural variations

Natural variant1291K → E.
Corresponds to variant rs35903418 [ dbSNP | Ensembl ].
VAR_034157
Natural variant2351I → V.
Corresponds to variant rs34468716 [ dbSNP | Ensembl ].
VAR_034158

Experimental info

Mutagenesis460 – 4623Missing: Abolishes localization to peroxisomes. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q9BQG2 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 1A470B93707DB1D5

FASTA46252,076
        10         20         30         40         50         60 
MSSVKRSLKQ EIVTQFHCSA AEGDIAKLTG ILSHSPSLLN ETSENGWTAL MYAARNGHPE 

        70         80         90        100        110        120 
IVQFLLEKGC DRSIVNKSRQ TALDIAVFWG YKHIANLLAT AKGGKKPWFL TNEVEECENY 

       130        140        150        160        170        180 
FSKTLLDRKS EKRNNSDWLL AKESHPATVF ILFSDLNPLV TLGGNKESFQ QPEVRLCQLN 

       190        200        210        220        230        240 
YTDIKDYLAQ PEKITLIFLG VELEIKDKLL NYAGEVPREE EDGLVAWFAL GIDPIAAEEF 

       250        260        270        280        290        300 
KQRHENCYFL HPPMPALLQL KEKEAGVVAQ ARSVLAWHSR YKFCPTCGNA TKIEEGGYKR 

       310        320        330        340        350        360 
LCLKEDCPSL NGVHNTSYPR VDPVVIMQVI HPDGTKCLLG RQKRFPPGMF TCLAGFIEPG 

       370        380        390        400        410        420 
ETIEDAVRRE VEEESGVKVG HVQYVACQPW PMPSSLMIGC LALAVSTEIK VDKNEIEDAR 

       430        440        450        460 
WFTREQVLDV LTKGKQQAFF VPPSRAIAHQ LIKHWIRINP NL 

« Hide

References

« Hide 'large scale' references
[1]"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].
Tissue: Amygdala.
[2]"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].
Tissue: Trachea.
[3]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
Tissue: Eye and Ovary.
[5]"Mammalian NADH diphosphatases of the Nudix family: cloning and characterization of the human peroxisomal NUDT12 protein."
Abdelraheim S.R., Spiller D.G., McLennan A.G.
Biochem. J. 374:329-335(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, ENZYME ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION, MUTAGENESIS OF 460-PRO--LEU-462.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL136592 mRNA. Translation: CAB66527.1.
AK098066 mRNA. Translation: BAG53574.1.
CH471086 Genomic DNA. Translation: EAW49073.1.
BC026748 mRNA. Translation: AAH26748.1.
BC041099 mRNA. Translation: AAH41099.1.
RefSeqNP_113626.1. NM_031438.2.
XP_005272152.1. XM_005272095.1.
UniGeneHs.434289.

3D structure databases

ProteinModelPortalQ9BQG2.
SMRQ9BQG2. Positions 9-136, 206-453.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-3060539.
STRING9606.ENSP00000230792.

PTM databases

PhosphoSiteQ9BQG2.

Polymorphism databases

DMDM68565930.

Proteomic databases

PaxDbQ9BQG2.
PRIDEQ9BQG2.

Protocols and materials databases

DNASU83594.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000230792; ENSP00000230792; ENSG00000112874.
GeneID83594.
KEGGhsa:83594.
UCSCuc003koi.3. human.

Organism-specific databases

CTD83594.
GeneCardsGC05M102912.
HGNCHGNC:18826. NUDT12.
HPAHPA045449.
MIM609232. gene.
neXtProtNX_Q9BQG2.
PharmGKBPA38699.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2816.
HOGENOMHOG000247937.
HOVERGENHBG054394.
InParanoidQ9BQG2.
KOK03426.
OMAQPEVRLC.
OrthoDBEOG7N0C55.
PhylomeDBQ9BQG2.
TreeFamTF106352.

Gene expression databases

ArrayExpressQ9BQG2.
BgeeQ9BQG2.
CleanExHS_NUDT12.
GenevestigatorQ9BQG2.

Family and domain databases

Gene3D1.25.40.20. 1 hit.
3.90.79.10. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR015375. NADH_PPase-like_N.
IPR020084. NUDIX_hydrolase_CS.
IPR000086. NUDIX_hydrolase_dom.
IPR015797. NUDIX_hydrolase_dom-like.
IPR015376. Znr_NADH_PPase.
[Graphical view]
PfamPF12796. Ank_2. 1 hit.
PF00293. NUDIX. 1 hit.
PF09296. NUDIX-like. 1 hit.
PF09297. zf-NADH-PPase. 1 hit.
[Graphical view]
SMARTSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
SSF55811. SSF55811. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
PS51462. NUDIX. 1 hit.
PS00893. NUDIX_BOX. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNUDT12.
GenomeRNAi83594.
NextBio72525.
PROQ9BQG2.
SOURCESearch...

Entry information

Entry nameNUD12_HUMAN
AccessionPrimary (citable) accession number: Q9BQG2
Secondary accession number(s): B3KUW2, Q8TAL7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: June 1, 2001
Last modified: March 19, 2014
This is version 111 of the entry and version 1 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

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 5

Human chromosome 5: entries, gene names and cross-references to MIM