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UniProtKB/Swiss-Prot entry Q12797


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name ASPH_HUMAN
Primary accession number Q12797
Secondary accession numbers A6NHI2 Q9Y4J0
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on April 17, 2007 (Sequence version 3)
Annotations were last modified on    July 22, 2008 (Entry version 78)
Name and origin of the protein
Protein name Aspartyl/asparaginyl beta-hydroxylase
Synonyms EC 1.14.11.16
Aspartate beta-hydroxylase
ASP beta-hydroxylase
Peptide-aspartate beta-dioxygenase
Gene name
Name: ASPH
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0378-1119(94)90460-X; PubMed=7821814 [NCBI, ExPASy, EBI, Israel, Japan]
Korioth F., Gieffers C., Frey J.;
"Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase.";
Gene 150:395-399(1994).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=8823296 [NCBI, ExPASy, EBI, Israel, Japan]
Lavaissiere L., Jia S., Nishiyama M., de la Monte S., Stern A.M., Wands J.R., Friedman P.A.;
"Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma.";
J. Clin. Invest. 98:1313-1323(1996).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04406; PubMed=16421571 [NCBI, ExPASy, EBI, Israel, Japan]
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[5]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-29, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1073/pnas.0404720101; PubMed=15302935 [NCBI, ExPASy, EBI, Israel, Japan]
Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P.;
"Large-scale characterization of HeLa cell nuclear phosphoproteins.";
Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U03109; AAA82108.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S83325; AAB50779.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC067881; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
CH471068; EAW86848.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR I38423; I38423.
RefSeq NP_004309.2; -.
UniGene Hs.622998
3D structure databases
ModBase Q12797.
PTM databases
PhosphoSite Q12797; -.
Organism-specific databases
H-InvDB HIX0034267; -.
HGNC HGNC:757; ASPH.
GenAtlas ASPH.
MIM 600582; gene. [NCBI / EBI]
PharmGKB PA25056; -.
GeneCards Q12797.
Gene expression databases
ArrayExpress Q12797; -.
CleanEx HS_ASPH; -.
GermOnline ENSG00000198363; Homo sapiens.
Ontologies
GO
GO:0005789; Cellular component: endoplasmic reticulum membrane (traceable author statement from ProtInc).
GO:0005509; Molecular function: calcium ion binding (traceable author statement from ProtInc).
GO:0009055; Molecular function: electron carrier activity (traceable author statement from UniProtKB).
GO:0004597; Molecular function: peptide-aspartate beta-dioxygenase activity (traceable author statement from ProtInc).
GO:0008307; Molecular function: structural constituent of muscle (traceable author statement from ProtInc).
GO:0006936; Biological process: muscle contraction (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR007943; Asp-B-hydro_N.
IPR007803; Asp_Arg_Hydrox.
IPR011990; TPR-like_helical.
IPR013026; TPR_region.
Graphical view of domain structure.
Gene3D G3DSA:1.25.40.10; TPR-like_helical; 1.
Pfam PF05279; Asp-B-Hydro_N; 1.
PF05118; Asp_Arg_Hydrox; 1.
Pfam graphical view of domain structure.
PROSITE PS50005; TPR; 2.
PS50293; TPR_REGION; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q12797.
Genome annotation databases
Ensembl ENSG00000198363; Homo sapiens. [Contig view]
GeneID 444; -.
KEGG hsa:444; -.
Phylogenomic databases
HOVERGEN Q12797; -.
Other
DrugBank DB00128; L-Aspartic Acid.
DB00139; Succinic acid.
SOURCE ASPH; Homo sapiens.
ProtoNet Q12797.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Dioxygenase; Endoplasmic reticulum; Glycoprotein; Iron; Membrane; Oxidoreductase; Phosphoprotein; Repeat; Signal-anchor; TPR repeat; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   758  758     Aspartyl/asparaginyl beta-hydroxylase. PRO_0000064706
TOPO_DOM   1    53  53     Cytoplasmic (Potential). 
TRANSMEM   54    74  21     Signal-anchor for type II membrane protein (Potential). 
TOPO_DOM   75   758  684     Lumenal (Potential). 
REPEAT   341   374  34     TPR 1. 
REPEAT   454   487  34     TPR 2. 
REPEAT   489   521  33     TPR 3. 
REPEAT   525   557  33     TPR 4. 
COMPBIAS   9    29  21     Ser-rich. 
COMPBIAS   111   312  202     Glu-rich. 
COMPBIAS   323   332  10     Poly-Lys. 
MOD_RES   29    29        Phosphoserine. 
CARBOHYD   452   452        N-linked (GlcNAc...) (Potential). 
CARBOHYD   706   706        N-linked (GlcNAc...) (Potential). 
CONFLICT   565   565        Y -> I (in Ref. 1; AAA82108). 
CONFLICT   575   577        WWT -> CG (in Ref. 1; AAA82108). 
CONFLICT   585   585        E -> Q (in Ref. 1; AAA82108). 
CONFLICT   709   709        K -> R (in Ref. 2; AAB50779). 
Sequence information
Length: 758 AA [This is the length of the unprocessed precursor] Molecular weight: 85863 Da [This is the MW of the unprocessed precursor] CRC64: 4AE56D1D8DF0AF0C [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAQRKNAKSS GNSSSSGSGS GSTSAGSSSP GARRETKHGG HKNGRKGGLS GTSFFTWFMV 

        70         80         90        100        110        120 
IALLGVWTSV AVVWFDLVDY EEVLGKLGIY DADGDGDFDV DDAKVLLGLK ERSTSEPAVP 

       130        140        150        160        170        180 
PEEAEPHTEP EEQVPVEAEP QNIEDEAKEQ IQSLLHEMVH AEHVEGEDLQ QEDGPTGEPQ 

       190        200        210        220        230        240 
QEDDEFLMAT DVDDRFETLE PEVSHEETEH SYHVEETVSQ DCNQDMEEMM SEQENPDSSE 

       250        260        270        280        290        300 
PVVEDERLHH DTDDVTYQVY EEQAVYEPLE NEGIEITEVT APPEDNPVED SQVIVEEVSI 

       310        320        330        340        350        360 
FPVEEQQEVP PETNRKTDDP EQKAKVKKKK PKLLNKFDKT IKAELDAAEK LRKRGKIEEA 

       370        380        390        400        410        420 
VNAFKELVRK YPQSPRARYG KAQCEDDLAE KRRSNEVLRG AIETYQEVAS LPDVPADLLK 

       430        440        450        460        470        480 
LSLKRRSDRQ QFLGHMRGSL LTLQRLVQLF PNDTSLKNDL GVGYLLIGDN DNAKKVYEEV 

       490        500        510        520        530        540 
LSVTPNDGFA KVHYGFILKA QNKIAESIPY LKEGIESGDP GTDDGRFYFH LGDAMQRVGN 

       550        560        570        580        590        600 
KEAYKWYELG HKRGHFASVW QRSLYNVNGL KAQPWWTPKE TGYTELVKSL ERNWKLIRDE 

       610        620        630        640        650        660 
GLAVMDKAKG LFLPEDENLR EKGDWSQFTL WQQGRRNENA CKGAPKTCTL LEKFPETTGC 

       670        680        690        700        710        720 
RRGQIKYSIM HPGTHVWPHT GPTNCRLRMH LGLVIPKEGC KIRCANETKT WEEGKVLIFD 

       730        740        750 
DSFEHEVWQD ASSFRLIFIV DVWHPELTPQ QRRSLPAI 

Q12797 in FASTA format

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