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Q6ICH7 (ASPH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Aspartate beta-hydroxylase domain-containing protein 2

EC=1.14.11.-
Gene names
Name:ASPHD2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length369 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May function as 2-oxoglutarate-dependent dioxygenase By similarity.

Cofactor

Iron By similarity.

Subcellular location

Membrane; Single-pass type II membrane protein Potential.

Sequence similarities

Belongs to the aspartyl/asparaginyl beta-hydroxylase family.

Sequence caution

The sequence AAH36753.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAG37570.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   LigandIron
Metal-binding
   Molecular functionDioxygenase
Oxidoreductase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processpeptidyl-amino acid modification

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functiondioxygenase activity

Inferred from electronic annotation. Source: UniProtKB-KW

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 – 369369Aspartate beta-hydroxylase domain-containing protein 2
PRO_0000254162

Regions

Topological domain1 – 5858Cytoplasmic Potential
Transmembrane59 – 7921Helical; Potential
Topological domain80 – 369290Lumenal Potential
Region292 – 29432-oxoglutarate binding By similarity

Sites

Metal binding2831Iron By similarity
Metal binding3281Iron By similarity
Binding site22812-oxoglutarate By similarity
Binding site27212-oxoglutarate By similarity
Binding site34112-oxoglutarate By similarity

Amino acid modifications

Glycosylation2111N-linked (GlcNAc...) Potential

Natural variations

Natural variant2351N → S.
Corresponds to variant rs34902186 [ dbSNP | Ensembl ].
VAR_060123

Sequences

Sequence LengthMass (Da)Tools
Q6ICH7 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: AE28ED71AC770ACF

FASTA36941,699
        10         20         30         40         50         60 
MVWAPLGPPR TDCLTLLHTP SKDSPKMSLE WLVAWSWSLD GLRDCIATGI QSVRDCDTTA 

        70         80         90        100        110        120 
VITVACLLVL FVWYCYHVGR EQPRPYVSVN SLMQAADANG LQNGYVYCQS PECVRCTHNE 

       130        140        150        160        170        180 
GLNQKLYHNL QEYAKRYSWS GMGRIHKGIR EQGRYLNSRP SIQKPEVFFL PDLPTTPYFS 

       190        200        210        220        230        240 
RDAQKHDVEV LERNFQTILC EFETLYKAFS NCSLPQGWKM NSTPSGEWFT FYLVNQGVCV 

       250        260        270        280        290        300 
PRNCRKCPRT YRLLGSLRTC IGNNVFGNAC ISVLSPGTVI TEHYGPTNIR IRCHLGLKTP 

       310        320        330        340        350        360 
NGCELVVGGE PQCWAEGRCL LFDDSFLHAA FHEGSAEDGP RVVFMVDLWH PNVAAAERQA 


LDFIFAPGR 

« Hide

References

[1]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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: Cerebellum.
[3]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
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].
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 184-369.
Tissue: Amygdala.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
CR456391 mRNA. Translation: CAG30277.1.
AK315112 mRNA. Translation: BAG37570.1. Different initiation.
Z99714 Genomic DNA. Translation: CAI17879.1.
BC036753 mRNA. Translation: AAH36753.1. Different initiation.
AL161993 mRNA. Translation: CAB82325.1.
CCDSCCDS13834.2.
PIRT47148.
RefSeqNP_065170.2. NM_020437.4.
UniGeneHs.567547.

3D structure databases

ProteinModelPortalQ6ICH7.
SMRQ6ICH7. Positions 188-364.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000215906.

PTM databases

PhosphoSiteQ6ICH7.

Polymorphism databases

DMDM74757726.

Proteomic databases

MaxQBQ6ICH7.
PaxDbQ6ICH7.
PRIDEQ6ICH7.

Protocols and materials databases

DNASU57168.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000215906; ENSP00000215906; ENSG00000128203.
GeneID57168.
KEGGhsa:57168.
UCSCuc003acg.2. human.

Organism-specific databases

CTD57168.
GeneCardsGC22P026825.
HGNCHGNC:30437. ASPHD2.
HPAHPA000820.
neXtProtNX_Q6ICH7.
PharmGKBPA143485314.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3555.
HOGENOMHOG000233597.
HOVERGENHBG079419.
InParanoidQ6ICH7.
OMAEWVTFYL.
OrthoDBEOG7JMGDJ.
PhylomeDBQ6ICH7.
TreeFamTF312799.

Gene expression databases

ArrayExpressQ6ICH7.
BgeeQ6ICH7.
CleanExHS_ASPHD2.
GenevestigatorQ6ICH7.

Family and domain databases

Gene3D2.60.120.330. 1 hit.
InterProIPR007803. Asp_Arg_Pro-Hydrxlase.
IPR027443. IPNS-like.
[Graphical view]
PfamPF05118. Asp_Arg_Hydrox. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57168.
NextBio63181.
PROQ6ICH7.

Entry information

Entry nameASPH2_HUMAN
AccessionPrimary (citable) accession number: Q6ICH7
Secondary accession number(s): B2RCH3, Q7L0W3, Q9NSN3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 81 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

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 22

Human chromosome 22: entries, gene names and cross-references to MIM