2024-04-25 07:05:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001252124 4882 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 5, mRNA. ACCESSION NM_001252124 VERSION NM_001252124.1 GI:355477268 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 4882) AUTHORS Hao,Y., Liu,X., Lu,X., Yang,X., Wang,L., Chen,S., Li,H., Li,J., Cao,J., Chen,J., Li,Y., Zhao,L., Shi,Y., Shen,C., Yan,W., He,J., Huang,J. and Gu,D. TITLE Genome-wide association study in Han Chinese identifies three novel loci for human height JOURNAL Hum. Genet. 132 (6), 681-689 (2013) PUBMED 23456168 REFERENCE 2 (bases 1 to 4882) AUTHORS Semplici,F., Vaxillaire,M., Fogarty,S., Semache,M., Bonnefond,A., Fontes,G., Philippe,J., Meur,G., Diraison,F., Sessions,R.B., Rutter,J., Poitout,V., Froguel,P. and Rutter,G.A. TITLE Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion JOURNAL J. Biol. Chem. 286 (51), 44005-44014 (2011) PUBMED 22065581 REMARK GeneRIF: Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) has a role in insulin hypersecretion REFERENCE 3 (bases 1 to 4882) AUTHORS MacDonald,P.E. and Rorsman,P. TITLE Per-arnt-sim (PAS) domain kinase (PASK) as a regulator of glucagon secretion JOURNAL Diabetologia 54 (4), 719-721 (2011) PUBMED 21327866 REFERENCE 4 (bases 1 to 4882) AUTHORS da Silva Xavier,G., Farhan,H., Kim,H., Caxaria,S., Johnson,P., Hughes,S., Bugliani,M., Marselli,L., Marchetti,P., Birzele,F., Sun,G., Scharfmann,R., Rutter,J., Siniakowicz,K., Weir,G., Parker,H., Reimann,F., Gribble,F.M. and Rutter,G.A. TITLE Per-arnt-sim (PAS) domain-containing protein kinase is downregulated in human islets in type 2 diabetes and regulates glucagon secretion JOURNAL Diabetologia 54 (4), 819-827 (2011) PUBMED 21181396 REMARK GeneRIF: PASK is involved in the regulation of glucagon secretion by glucose and may be a useful target for the treatment of type 2 diabetes. REFERENCE 5 (bases 1 to 4882) AUTHORS Grose,J.H. and Rutter,J. TITLE The role of PAS kinase in PASsing the glucose signal JOURNAL Sensors (Basel) 10 (6), 5668-5682 (2010) PUBMED 22219681 REMARK GeneRIF: The role of PAS kinase in PASsing the glucose signal. Review article REFERENCE 6 (bases 1 to 4882) AUTHORS Wilson,W.A., Skurat,A.V., Probst,B., de Paoli-Roach,A., Roach,P.J. and Rutter,J. TITLE Control of mammalian glycogen synthase by PAS kinase JOURNAL Proc. Natl. Acad. Sci. U.S.A. 102 (46), 16596-16601 (2005) PUBMED 16275910 REFERENCE 7 (bases 1 to 4882) AUTHORS da Silva Xavier,G., Rutter,J. and Rutter,G.A. TITLE Involvement of Per-Arnt-Sim (PAS) kinase in the stimulation of preproinsulin and pancreatic duodenum homeobox 1 gene expression by glucose JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (22), 8319-8324 (2004) PUBMED 15148392 REMARK GeneRIF: Results suggest that elevated glucose concentrations rapidly increase Per-Arnt-Sim kinase activity in pancreatic islet beta cells, followed by up-regulation by glucose of preproinsulin and pancreatic duodenum homeobox 1 gene expression. REFERENCE 8 (bases 1 to 4882) AUTHORS Amezcua,C.A., Harper,S.M., Rutter,J. and Gardner,K.H. TITLE Structure and interactions of PAS kinase N-terminal PAS domain: model for intramolecular kinase regulation JOURNAL Structure 10 (10), 1349-1361 (2002) PUBMED 12377121 REFERENCE 9 (bases 1 to 4882) AUTHORS Hofer,T., Spielmann,P., Stengel,P., Stier,B., Katschinski,D.M., Desbaillets,I., Gassmann,M. and Wenger,R.H. TITLE Mammalian PASKIN, a PAS-serine/threonine kinase related to bacterial oxygen sensors JOURNAL Biochem. Biophys. Res. Commun. 288 (4), 757-764 (2001) PUBMED 11688972 REMARK GeneRIF: molecular cloning, gene expression, and comparison with mouse protein REFERENCE 10 (bases 1 to 4882) AUTHORS Rutter,J., Michnoff,C.H., Harper,S.M., Gardner,K.H. and McKnight,S.L. TITLE PAS kinase: an evolutionarily conserved PAS domain-regulated serine/threonine kinase JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (16), 8991-8996 (2001) PUBMED 11459942 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA104684.1, BC050565.1, BC063585.1 and AL117400.1. Summary: This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. Transcript Variant: This variant (5) lacks a splice site in the 3' coding region, which results in a frameshift and alternate 3' UTR compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC050565.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-41 DA104684.1 1-41 42-100 BC050565.1 1-59 101-3317 BC063585.1 44-3260 3318-4067 BC050565.1 3277-4026 4068-4310 AL117400.1 4368-4610 4311-4882 AL117400.1 4612-5183 FEATURES Location/Qualifiers source 1..4882 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q37.3" gene 1..4882 /gene="PASK" /gene_synonym="PASKIN; STK37" /note="PAS domain containing serine/threonine kinase" /db_xref="GeneID:23178" /db_xref="HGNC:17270" /db_xref="MIM:607505" exon 1..91 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" misc_feature 59..61 /gene="PASK" /gene_synonym="PASKIN; STK37" /note="upstream in-frame stop codon" exon 92..329 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" CDS 134..3565 /gene="PASK" /gene_synonym="PASKIN; STK37" /EC_number="2.7.11.1" /note="isoform 4 is encoded by transcript variant 5; PAS domain-containing serine/threonine-protein kinase; per-arnt-sim (PAS) domain kinase" /codon_start=1 /product="PAS domain-containing serine/threonine-protein kinase isoform 4" /protein_id="NP_001239053.1" /db_xref="GI:355477269" /db_xref="CCDS:CCDS58758.1" /db_xref="GeneID:23178" /db_xref="HGNC:17270" /db_xref="MIM:607505" /translation="
MEDGGLTAFEEDQRCLSQSLPLPVSAEGPAAQTTAEPSRSFSSAHRHLSRRNGLSRLCQSRTALSEDRWSSYCLSSLAAQNICTSKLHCPAAPEHTDPSEPRGSVSCCSLLRGLSSGWSSPLLPAPVCNPNKAIFTVDAKTTEILVANDKACGLLGYSSQDLIGQKLTQFFLRSDSDVVEALSEEHMEADGHAAVVFGTVVDIISRSGEKIPVSVWMKRMRQERRLCCVVVLEPVERVSTWVAFQSDGTVTSCDSLFAHLHGYVSGEDVAGQHITDLIPSVQLPPSGQHIPKNLKIQRSVGRARDGTTFPLSLKLKSQPSSEEATTGEAAPVSGYRASVWVFCTISGLITLLPDGTIHGINHSFALTLFGYGKTELLGKNITFLIPGFYSYMDLAYNSSLQLPDLASCLDVGNESGCGERTLDPWQGQDPAEGGQDPRINVVLAGGHVVPRDEIRKLMESQDIFTGTQTELIAGGQLLSCLSPQPAPGVDNVPEGSLPVHGEQALPKDQQITALGREEPVAIESPGQDLLGESRSEPVDVKPFASCEDSEAPVPAEDGGSDAGMCGLCQKAQLERMGVSGPSGSDLWAGAAVAKPQAKGQLAGGSLLMHCPCYGSEWGLWWRSQDLAPSPSGMAGLSFGTPTLDEPWLGVENDREELQTCLIKEQLSQLSLAGALDVPHAELVPTECQAVTAPVSSCDLGGRDLCGGCTGSSSACYALATDLPGGLEAVEAQEVDVNSFSWNLKELFFSDQTDQTSSNCSCATSELRETPSSLAVGSDPDVGSLQEQGSCVLDDRELLLLTGTCVDLGQGRRFRESCVGHDPTEPLEVCLVSSEHYAASDRESPGHVPSTLDAGPEDTCPSAEEPRLNVQVTSTPVIVMRGAAGLQREIQEGAYSGSCYHRDGLRLSIQFEVRRVELQGPTPLFCCWLVKDLLHSQRDSAARTRLFLASLPGSTHSTAAELTGPSLVEVLRARPWFEEPPKAVELEGLAACEGEYSQKYSTMSPLGSGAFGFVWTAVDKEKNKEVVVKFIKKEKVLEDCWIEDPKLGKVTLEIAILSRVEHANIIKVLDIFENQGFFQLVMEKHGSGLDLFAFIDRHPRLDEPLASYIFRQVRAGQSRVSVNAGLGAWVRWLQRSVIHTRFSL
" misc_feature 530..829 /gene="PASK" /gene_synonym="PASKIN; STK37" /note="PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in...; Region: PAS; cd00130" /db_xref="CDD:29035" misc_feature 533..802 /gene="PASK" /gene_synonym="PASKIN; STK37" /note="PAS domain; Region: PAS_9; pfam13426" /db_xref="CDD:205604" misc_feature order(572..574,584..586,602..604,641..652,740..742, 755..757) /gene="PASK" /gene_synonym="PASKIN; STK37" /note="putative active site [active]" /db_xref="CDD:29035" misc_feature order(632..634,644..646,668..670,689..694,776..778, 782..784) /gene="PASK" /gene_synonym="PASKIN; STK37" /note="heme pocket [chemical binding]; other site" /db_xref="CDD:29035" misc_feature 1163..1336 /gene="PASK" /gene_synonym="PASKIN; STK37" /note="PAS domain; Region: PAS; smart00091" /db_xref="CDD:197512" misc_feature 3146..>3469 /gene="PASK" /gene_synonym="PASKIN; STK37" /note="Protein Kinases, catalytic domain; Region: PKc_like; cl09925" /db_xref="CDD:213116" misc_feature order(3146..3160,3170..3172,3209..3211,3215..3217, 3326..3328,3374..3385,3398..3400,3404..3406) /gene="PASK" /gene_synonym="PASKIN; STK37" /note="active site" /db_xref="CDD:173623" misc_feature order(3146..3160,3170..3172,3209..3211,3215..3217, 3326..3328,3374..3385,3398..3400) /gene="PASK" /gene_synonym="PASKIN; STK37" /note="ATP binding site [chemical binding]; other site" /db_xref="CDD:173623" exon 330..562 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 563..733 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 734..874 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 875..1009 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" variation 881 /gene="PASK" /gene_synonym="PASKIN; STK37" /replace="a" /replace="g" /db_xref="dbSNP:1470414" exon 1010..1270 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 1271..1439 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 1440..1596 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 1597..2852 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 2853..3037 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 3038..3205 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 3206..3331 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" exon 3332..4874 /gene="PASK" /gene_synonym="PASKIN; STK37" /inference="alignment:Splign:1.39.8" variation 3781 /gene="PASK" /gene_synonym="PASKIN; STK37" /replace="a" /replace="g" /db_xref="dbSNP:3771355" variation 3793..3794 /gene="PASK" /gene_synonym="PASKIN; STK37" /replace="" /replace="ag" /db_xref="dbSNP:367679069" variation 3795 /gene="PASK" /gene_synonym="PASKIN; STK37" /replace="c" /replace="t" /db_xref="dbSNP:2871579" variation 4349 /gene="PASK" /gene_synonym="PASKIN; STK37" /replace="a" /replace="g" /db_xref="dbSNP:1056915" variation 4398 /gene="PASK" /gene_synonym="PASKIN; STK37" /replace="c" /replace="t" /db_xref="dbSNP:1056916" variation 4757 /gene="PASK" /gene_synonym="PASKIN; STK37" /replace="a" /replace="g" /db_xref="dbSNP:1444998" polyA_signal 4844..4849 /gene="PASK" /gene_synonym="PASKIN; STK37" polyA_site 4874 /gene="PASK" /gene_synonym="PASKIN; STK37" ORIGIN
gtcgctgtgcgattggtcggtgggataaaagcgcggaagggctcctttccgtggtgtgtagccggcttggcgtgaccctcgcctgatccagttgttagagttggaagcttggcagttggcctcccttcttcccatggaggacgggggcttaacagcctttgaagaggaccagagatgcctttcccagagcctccccttgccagtgtcagcagagggcccagctgcacagaccactgctgagcccagcaggtcgttttcctcagcccacagacacctgagcagaaggaatgggctttccagactctgccagagcaggacagcgctctctgaagacagatggagctcctattgtctatcatcactggctgcccagaatatttgtacaagtaaactgcactgccctgctgcccctgagcacacggacccgtccgaaccgcggggcagtgtgtcctgctgctccctgctgcggggactgtcctcagggtggtcctcacctctgcttccggcccctgtgtgcaaccctaacaaggccatcttcacggtggatgccaagaccacagagatcctggttgctaacgacaaagcttgcgggctcctggggtacagcagccaggacctgattggccagaagctcacgcagttctttctgaggtcagattctgatgtggtggaggccctcagcgaggagcacatggaggccgacggccacgctgcggtggtgtttggcacggtggtggacatcatcagccgtagtggggagaagattccagtgtctgtgtggatgaagaggatgcggcaggagcgccgcctatgctgcgtggtggtcctggagcccgtggagagggtctcgacctgggtcgctttccagagcgatggcaccgtcacgtcatgtgacagtctctttgctcatcttcacgggtacgtgtctggggaggacgtggctgggcagcatatcacagacctgatcccttctgtgcagctccctccttctggccagcacatcccaaagaatctcaagattcagaggtctgttggaagagccagggacggtaccaccttccctctgagcttaaagctgaaatcccaacccagcagcgaggaggcgaccaccggtgaggcggcccctgtgagcggctaccgggcatctgtctgggtgttctgcaccatcagtggcctcatcaccctcctgccggatgggaccatccacggcatcaaccacagcttcgcgctgacactgtttggttacggaaagacggagctcctgggcaagaatatcactttcctgattcctggtttctacagctacatggaccttgcgtacaacagctcattacagctcccagacctggccagctgcctggacgtcggcaatgagagtgggtgtggggagagaaccttggacccgtggcagggccaggacccagctgaggggggccaggatccaaggattaatgtcgtgcttgctggtggccacgttgtgccccgagatgagatccggaagctgatggaaagccaagacatcttcaccgggactcagactgagctgattgctggaggccagctcctttcctgcctctcacctcagcctgctccaggggtggacaatgtcccagaaggaagcctgccagtgcacggtgaacaggcgctgcccaaggaccagcaaatcactgccttggggagagaggaacctgtggcaatagagagccccggacaggatcttctgggagaaagcaggtctgaaccagtggatgtgaagccatttgcttcctgcgaagattctgaagctccagtcccagctgaggatgggggcagtgatgctggcatgtgtggcctgtgtcagaaggcccagctagagcggatgggagtcagtggtcccagcggttcagacctttgggctggggctgccgtggccaagccccaggccaagggtcagctggcggggggcagcctcctgatgcactgcccttgctatgggagtgaatggggcttgtggtggcgaagccaggacttggcccccagcccctctgggatggcaggcctctcgtttgggacacctactctagatgagccgtggctgggagtggaaaacgaccgagaagagctgcagacctgcttgattaaggagcagctgtcccagttgagccttgcaggagccctggatgtcccccacgccgaactcgttccgacagagtgccaggctgtcaccgctcctgtgtcgtcctgcgatctgggaggcagagacctgtgcggtggctgcacgggcagctcctcagcctgctatgccttggccacggacctccctgggggcctggaagcagtggaggcccaggaggttgatgtgaattcgttttcctggaacctcaaggaactctttttcagtgaccagacagaccaaacgtcatcaaattgttcctgtgctacgtctgaactcagagagacaccctcttccttggcagtgggctccgatccagatgtaggcagtctccaggaacaggggtcgtgtgtcctggatgacagggagctgttactactgaccggcacctgtgttgaccttggccaaggccgacggttccgggagagctgtgtgggacatgatccaacagaaccgcttgaggtttgtttggtgtcctctgagcattatgcagcaagcgacagagaaagcccaggacacgttccttccacgttggatgctggccctgaggacacgtgcccatcagcagaggagccaaggctgaacgtccaggtcacctccacgcccgtgatcgtgatgcgcggggctgctggcctgcagcgggagatccaggagggtgcctactccgggagctgctaccatcgagatggcttacggctgagtatacagtttgaggtgaggcgggtggagctccagggccccacacctctgttctgctgctggctggtgaaagacctcctccacagccaacgcgactcagccgccaggacccgcctgttccttgccagcctgcccggctccacccactctaccgctgctgagctcaccggacccagcctggtggaagtgctcagagccagaccctggtttgaggagccccccaaggctgtggaactggaggggttggcggcctgtgagggcgagtactcccaaaagtacagtaccatgagcccgctgggcagtggggccttcggcttcgtgtggactgctgtggacaaggaaaaaaacaaggaggtggtggtgaagtttattaagaaggagaaggtcttggaggattgttggattgaggatcccaaacttgggaaagttactttagagatcgcaattctatccagggtggagcacgccaatatcatcaaggtattggatatatttgaaaaccaagggttcttccagcttgtgatggagaagcacggctccggcctagacctcttcgctttcatcgaccgccaccccaggctggatgagcccctggcgagctacatcttccgacaagtgagagcaggccagagccgtgttagtgtgaacgcaggcctgggtgcctgggtccggtggctgcaaagatcagtgatccatactcggttctctctctgagctggatctagccttctgtgtggggatttcatggagtaggatatatattttgagaagaaaattctatgattgaagtagagaaagtgaggttgggaaggaaggatgaggccagatacagtcctggaatgactgagaaagtatgtttaatggttaaggtttatttacatacataaaatatccacaacaatcataaaaattaaccagtaagggttaggatgcagccagagagcgtctcaaaggcatgtgtgcggcacagcggcctgcaggttgtaagtgcccactaaatggtggctgttgaggtaattaaccagcaaaactgagatcctgacattctcacttttcagtaagtatttgtcttgatctgtttcgtgtctaattacatattgaacttcggccattattttattggaatgggagagtgatgatccaaataggaaggcaccctagcagagggacagggggaagaaacggtaactcgtgttgggttttaaggagagggtggcggttccatcctgtactgctcccagctcccccagaagaactggagaaataccagcaaagggctgtgtagacaactcacatttgctcttggattgtttgctggggacaactcgatttctaatgacagcttccgtgaatcaacatttcttccttaaagctacacactctcgggttgttgggtttccgaagtttagtttctcaggctcctacttgtaagtttcagatattatggttctgcaaaaaagggtcacctctctccctcttcctgtgttggaaggtgacgtcctccctttagtttgtggccaacacttgtttctgaaactttttacagcaaacagagtatctgtatgaggttatgttgagggtcgcttgttaaaagctgctgcctgacagctgttaattctggggctagtgagacacataattatggtgtttatactctaaaatttttgccaaaagaatctctaccccttttgtaaatatatagacataaatgttattctatgtaaatacagatgcacaattttataaagtatatgatcgcacatcaatgtatgtaggaatcatgctggttctcagggcattgcctgtcagctccagattcatcaggacctgctcagcagcggggtcggggagctgggcctgggaacagccctggcttggttcaggccgctccagggcagcatggccagtccagggcacagaagcatctgcaggaagagcagctttcttcaagtcgctctttagccctttgtggttaatctctcagtactagttaataaatcttaatgaaactttccatgttcaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:23178 -> Molecular function: GO:0004674 [protein serine/threonine kinase activity] evidence: IDA GeneID:23178 -> Molecular function: GO:0004871 [signal transducer activity] evidence: IEA GeneID:23178 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:23178 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA GeneID:23178 -> Molecular function: GO:0035091 [phosphatidylinositol binding] evidence: IDA GeneID:23178 -> Biological process: GO:0006468 [protein phosphorylation] evidence: IDA GeneID:23178 -> Biological process: GO:0043576 [regulation of respiratory gaseous exchange] evidence: ISS GeneID:23178 -> Biological process: GO:0045719 [negative regulation of glycogen biosynthetic process] evidence: IDA GeneID:23178 -> Biological process: GO:0045727 [positive regulation of translation] evidence: TAS GeneID:23178 -> Biological process: GO:0046777 [protein autophosphorylation] evidence: IDA GeneID:23178 -> Biological process: GO:0070092 [regulation of glucagon secretion] evidence: ISS GeneID:23178 -> Biological process: GO:2000505 [regulation of energy homeostasis] evidence: ISS GeneID:23178 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:23178 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:23178 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001239053 -> EC 2.7.11.1
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