ID   ASPH2_HUMAN             Reviewed;         369 AA.
AC   Q6ICH7; B2RCH3; Q7L0W3; Q9NSN3;
DT   31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   24-JAN-2024, entry version 136.
DE   RecName: Full=Aspartate beta-hydroxylase domain-containing protein 2;
DE            EC=1.14.11.-;
GN   Name=ASPHD2;
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].
RX   PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA   Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA   Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA   Beare D.M., Dunham I.;
RT   "A genome annotation-driven approach to cloning the human ORFeome.";
RL   Genome Biol. 5:R84.1-R84.11(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Cerebellum;
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=10591208; DOI=10.1038/990031;
RA   Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA   Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA   Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA   Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA   Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA   Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA   Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA   Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA   Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA   Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA   Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA   Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA   Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA   Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA   Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA   Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA   Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA   Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA   Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA   Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA   Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA   Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA   Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA   Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA   Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA   Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA   Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA   Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA   Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA   Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA   Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA   Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA   Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA   McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA   Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA   Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA   Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA   Wright H.;
RT   "The DNA sequence of human chromosome 22.";
RL   Nature 402:489-495(1999).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 184-369.
RC   TISSUE=Amygdala;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
CC   -!- FUNCTION: May function as 2-oxoglutarate-dependent dioxygenase.
CC       {ECO:0000250}.
CC   -!- COFACTOR:
CC       Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000250};
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC       membrane protein {ECO:0000305}.
CC   -!- SIMILARITY: Belongs to the aspartyl/asparaginyl beta-hydroxylase
CC       family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH36753.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAG37570.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; CR456391; CAG30277.1; -; mRNA.
DR   EMBL; AK315112; BAG37570.1; ALT_INIT; mRNA.
DR   EMBL; Z99714; CAI17879.1; -; Genomic_DNA.
DR   EMBL; BC036753; AAH36753.1; ALT_INIT; mRNA.
DR   EMBL; AL161993; CAB82325.1; -; mRNA.
DR   CCDS; CCDS13834.2; -.
DR   PIR; T47148; T47148.
DR   RefSeq; NP_065170.2; NM_020437.4.
DR   AlphaFoldDB; Q6ICH7; -.
DR   SMR; Q6ICH7; -.
DR   BioGRID; 121421; 36.
DR   IntAct; Q6ICH7; 22.
DR   STRING; 9606.ENSP00000215906; -.
DR   GlyCosmos; Q6ICH7; 1 site, No reported glycans.
DR   GlyGen; Q6ICH7; 1 site.
DR   iPTMnet; Q6ICH7; -.
DR   PhosphoSitePlus; Q6ICH7; -.
DR   BioMuta; ASPHD2; -.
DR   DMDM; 74757726; -.
DR   EPD; Q6ICH7; -.
DR   MassIVE; Q6ICH7; -.
DR   MaxQB; Q6ICH7; -.
DR   PaxDb; 9606-ENSP00000215906; -.
DR   PeptideAtlas; Q6ICH7; -.
DR   ProteomicsDB; 66392; -.
DR   Pumba; Q6ICH7; -.
DR   Antibodypedia; 212; 111 antibodies from 18 providers.
DR   DNASU; 57168; -.
DR   Ensembl; ENST00000215906.6; ENSP00000215906.5; ENSG00000128203.7.
DR   GeneID; 57168; -.
DR   KEGG; hsa:57168; -.
DR   MANE-Select; ENST00000215906.6; ENSP00000215906.5; NM_020437.5; NP_065170.2.
DR   UCSC; uc003acg.3; human.
DR   AGR; HGNC:30437; -.
DR   CTD; 57168; -.
DR   GeneCards; ASPHD2; -.
DR   HGNC; HGNC:30437; ASPHD2.
DR   HPA; ENSG00000128203; Tissue enhanced (brain, skin).
DR   neXtProt; NX_Q6ICH7; -.
DR   OpenTargets; ENSG00000128203; -.
DR   PharmGKB; PA143485314; -.
DR   VEuPathDB; HostDB:ENSG00000128203; -.
DR   eggNOG; KOG3696; Eukaryota.
DR   GeneTree; ENSGT00940000159252; -.
DR   HOGENOM; CLU_059279_3_0_1; -.
DR   InParanoid; Q6ICH7; -.
DR   OMA; MVWVPLR; -.
DR   OrthoDB; 37221at2759; -.
DR   PhylomeDB; Q6ICH7; -.
DR   TreeFam; TF312799; -.
DR   PathwayCommons; Q6ICH7; -.
DR   SignaLink; Q6ICH7; -.
DR   BioGRID-ORCS; 57168; 10 hits in 1149 CRISPR screens.
DR   ChiTaRS; ASPHD2; human.
DR   GenomeRNAi; 57168; -.
DR   Pharos; Q6ICH7; Tdark.
DR   PRO; PR:Q6ICH7; -.
DR   Proteomes; UP000005640; Chromosome 22.
DR   RNAct; Q6ICH7; Protein.
DR   Bgee; ENSG00000128203; Expressed in secondary oocyte and 139 other cell types or tissues.
DR   ExpressionAtlas; Q6ICH7; baseline and differential.
DR   GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR   GO; GO:0051213; F:dioxygenase activity; IEA:UniProtKB-KW.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   InterPro; IPR007803; Asp/Arg/Pro-Hydrxlase.
DR   InterPro; IPR027443; IPNS-like_sf.
DR   PANTHER; PTHR46332; ASPARTATE BETA-HYDROXYLASE DOMAIN-CONTAINING PROTEIN 2; 1.
DR   PANTHER; PTHR46332:SF3; ASPARTATE BETA-HYDROXYLASE DOMAIN-CONTAINING PROTEIN 2; 1.
DR   Pfam; PF05118; Asp_Arg_Hydrox; 1.
DR   SUPFAM; SSF51197; Clavaminate synthase-like; 1.
DR   Genevisible; Q6ICH7; HS.
PE   2: Evidence at transcript level;
KW   Dioxygenase; Glycoprotein; Iron; Membrane; Metal-binding; Oxidoreductase;
KW   Reference proteome; Signal-anchor; Transmembrane; Transmembrane helix.
FT   CHAIN           1..369
FT                   /note="Aspartate beta-hydroxylase domain-containing protein
FT                   2"
FT                   /id="PRO_0000254162"
FT   TOPO_DOM        1..58
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        59..79
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        80..369
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   BINDING         228
FT                   /ligand="2-oxoglutarate"
FT                   /ligand_id="ChEBI:CHEBI:16810"
FT                   /evidence="ECO:0000250"
FT   BINDING         272
FT                   /ligand="2-oxoglutarate"
FT                   /ligand_id="ChEBI:CHEBI:16810"
FT                   /evidence="ECO:0000250"
FT   BINDING         283
FT                   /ligand="Fe cation"
FT                   /ligand_id="ChEBI:CHEBI:24875"
FT                   /evidence="ECO:0000250"
FT   BINDING         292..294
FT                   /ligand="2-oxoglutarate"
FT                   /ligand_id="ChEBI:CHEBI:16810"
FT                   /evidence="ECO:0000250"
FT   BINDING         328
FT                   /ligand="Fe cation"
FT                   /ligand_id="ChEBI:CHEBI:24875"
FT                   /evidence="ECO:0000250"
FT   BINDING         341
FT                   /ligand="2-oxoglutarate"
FT                   /ligand_id="ChEBI:CHEBI:16810"
FT                   /evidence="ECO:0000250"
FT   CARBOHYD        211
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VARIANT         235
FT                   /note="N -> S (in dbSNP:rs34902186)"
FT                   /id="VAR_060123"
SQ   SEQUENCE   369 AA;  41699 MW;  AE28ED71AC770ACF CRC64;
     MVWAPLGPPR TDCLTLLHTP SKDSPKMSLE WLVAWSWSLD GLRDCIATGI QSVRDCDTTA
     VITVACLLVL FVWYCYHVGR EQPRPYVSVN SLMQAADANG LQNGYVYCQS PECVRCTHNE
     GLNQKLYHNL QEYAKRYSWS GMGRIHKGIR EQGRYLNSRP SIQKPEVFFL PDLPTTPYFS
     RDAQKHDVEV LERNFQTILC EFETLYKAFS NCSLPQGWKM NSTPSGEWFT FYLVNQGVCV
     PRNCRKCPRT YRLLGSLRTC IGNNVFGNAC ISVLSPGTVI TEHYGPTNIR IRCHLGLKTP
     NGCELVVGGE PQCWAEGRCL LFDDSFLHAA FHEGSAEDGP RVVFMVDLWH PNVAAAERQA
     LDFIFAPGR
//