LOCUS       NM_001017962            2743 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens prolyl 4-hydroxylase subunit alpha 1 (P4HA1),
            transcript variant 2, mRNA.
ACCESSION   NM_001017962
VERSION     NM_001017962.3
KEYWORDS    RefSeq; MANE Select.
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 2743)
  AUTHORS   Gou,W., Song,B. and Yang,Y.
  TITLE     P4HA1 expression and function in esophageal squamous cell carcinoma
  JOURNAL   Medicine (Baltimore) 102 (51), e36800 (2023)
   PUBMED   38134053
  REMARK    GeneRIF: P4HA1 expression and function in esophageal squamous cell
            carcinoma.
REFERENCE   2  (bases 1 to 2743)
  AUTHORS   Cao,J., Zhong,Q., Huang,Y., Zhu,M., Wang,Z. and Xiong,Z.
  TITLE     Identification and validation of INHBE and P4HA1 as hub genes in
            non-alcoholic fatty liver disease
  JOURNAL   Biochem Biophys Res Commun 686, 149180 (2023)
   PUBMED   37922570
  REMARK    GeneRIF: Identification and validation of INHBE and P4HA1 as hub
            genes in non-alcoholic fatty liver disease.
REFERENCE   3  (bases 1 to 2743)
  AUTHORS   Sato,K., Sano,D., Takahashi,H., Kuwahara,T., Aizawa,Y., Aoyama,J.,
            Nojima,Y., Hatano,T., Arai,Y., Nishimura,G., Hatakeyama,H. and
            Oridate,N.
  TITLE     P4HA1 Promotes Cell Migration and Colonization in Hypopharyngeal
            Squamous Cell Carcinoma
  JOURNAL   Anticancer Res 43 (6), 2571-2582 (2023)
   PUBMED   37247900
  REMARK    GeneRIF: P4HA1 Promotes Cell Migration and Colonization in
            Hypopharyngeal Squamous Cell Carcinoma.
REFERENCE   4  (bases 1 to 2743)
  AUTHORS   Gou,W., Yang,Y., Shan,Q., Xia,S. and Ma,Y.
  TITLE     P4HA1, transcriptionally activated by STAT1, promotes esophageal
            cancer progression
  JOURNAL   Pathol Int 73 (4), 147-158 (2023)
   PUBMED   36734588
  REMARK    GeneRIF: P4HA1, transcriptionally activated by STAT1, promotes
            esophageal cancer progression.
REFERENCE   5  (bases 1 to 2743)
  AUTHORS   Zhu,M., Yan,T., Zhu,S., Weng,F., Zhu,K., Wang,C. and Guo,C.
  TITLE     Identification and verification of FN1, P4HA1 and CREBBP as
            potential biomarkers in human atrial fibrillation
  JOURNAL   Math Biosci Eng 20 (4), 6947-6965 (2023)
   PUBMED   37161136
  REMARK    GeneRIF: Identification and verification of FN1, P4HA1 and CREBBP
            as potential biomarkers in human atrial fibrillation.
REFERENCE   6  (bases 1 to 2743)
  AUTHORS   Horelli-Kuitunen,N., Kvist,A.P., Helaakoski,T., Kivirikko,K.,
            Pihlajaniemi,T. and Palotie,A.
  TITLE     The order and transcriptional orientation of the human COL13A1 and
            P4HA genes on chromosome 10 long arm determined by high-resolution
            FISH
  JOURNAL   Genomics 46 (2), 299-302 (1997)
   PUBMED   9417920
REFERENCE   7  (bases 1 to 2743)
  AUTHORS   Annunen,P., Helaakoski,T., Myllyharju,J., Veijola,J.,
            Pihlajaniemi,T. and Kivirikko,K.I.
  TITLE     Cloning of the human prolyl 4-hydroxylase alpha subunit isoform
            alpha(II) and characterization of the type II enzyme tetramer. The
            alpha(I) and alpha(II) subunits do not form a mixed
            alpha(I)alpha(II)beta2 tetramer
  JOURNAL   J Biol Chem 272 (28), 17342-17348 (1997)
   PUBMED   9211872
REFERENCE   8  (bases 1 to 2743)
  AUTHORS   Helaakoski,T., Veijola,J., Vuori,K., Rehn,M., Chow,L.T.,
            Taillon-Miller,P., Kivirikko,K.I. and Pihlajaniemi,T.
  TITLE     Structure and expression of the human gene for the alpha subunit of
            prolyl 4-hydroxylase. The two alternatively spliced types of mRNA
            correspond to two homologous exons the sequences of which are
            expressed in a variety of tissues
  JOURNAL   J Biol Chem 269 (45), 27847-27854 (1994)
   PUBMED   7961714
REFERENCE   9  (bases 1 to 2743)
  AUTHORS   Pajunen,L., Jones,T.A., Helaakoski,T., Pihlajaniemi,T., Solomon,E.,
            Sheer,D. and Kivirikko,K.I.
  TITLE     Assignment of the gene coding for the alpha-subunit of prolyl
            4-hydroxylase to human chromosome region 10q21.3-23.1
  JOURNAL   Am J Hum Genet 45 (6), 829-834 (1989)
   PUBMED   2556027
REFERENCE   10 (bases 1 to 2743)
  AUTHORS   Helaakoski,T., Vuori,K., Myllyla,R., Kivirikko,K.I. and
            Pihlajaniemi,T.
  TITLE     Molecular cloning of the alpha-subunit of human prolyl
            4-hydroxylase: the complete cDNA-derived amino acid sequence and
            evidence for alternative splicing of RNA transcripts
  JOURNAL   Proc Natl Acad Sci U S A 86 (12), 4392-4396 (1989)
   PUBMED   2543975
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB030709.1, BC034998.1 and
            AI061083.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001017962.2.
            
            Summary: This gene encodes a component of prolyl 4-hydroxylase, a
            key enzyme in collagen synthesis composed of two identical alpha
            subunits and two beta subunits. The encoded protein is one of
            several different types of alpha subunits and provides the major
            part of the catalytic site of the active enzyme. In collagen and
            related proteins, prolyl 4-hydroxylase catalyzes the formation of
            4-hydroxyproline that is essential to the proper three-dimensional
            folding of newly synthesized procollagen chains. Alternatively
            spliced transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains an alternate in-frame
            exon, compared to variant 1. It encodes isoform 2, which is the
            same length as isoform 1. Variants 2 and 3 both encode isoform 2.
            
            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 :: BC034998.1, M24487.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394890.7/ ENSP00000378353.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DB030709.1         135-138
            5-2531              BC034998.1         6-2532
            2532-2743           AI061083.1         10-221              c
FEATURES             Location/Qualifiers
     source          1..2743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2743
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="prolyl 4-hydroxylase subunit alpha 1"
                     /db_xref="GeneID:5033"
                     /db_xref="HGNC:HGNC:8546"
                     /db_xref="MIM:176710"
     exon            1..101
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            102..209
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..1738
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /EC_number="1.14.11.2"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; C-P4Halpha(I); collagen prolyl 4-hydroxylase
                     alpha(I); procollagen-proline, 2-oxoglutarate
                     4-dioxygenase (proline 4-hydroxylase), alpha polypeptide
                     I; procollagen-proline,2-oxoglutarate-4-dioxygenase
                     subunit alpha-1; prolyl 4-hydroxylase, alpha polypeptide
                     I"
                     /codon_start=1
                     /product="prolyl 4-hydroxylase subunit alpha-1 isoform 2
                     precursor"
                     /protein_id="NP_001017962.1"
                     /db_xref="CCDS:CCDS41537.1"
                     /db_xref="GeneID:5033"
                     /db_xref="HGNC:HGNC:8546"
                     /db_xref="MIM:176710"
                     /translation="MIWYILIIGILLPQSLAHPGFFTSIGQMTDLIHTEKDLVTSLKD
                     YIKAEEDKLEQIKKWAEKLDRLTSTATKDPEGFVGHPVNAFKLMKRLNTEWSELENLV
                     LKDMSDGFISNLTIQRQYFPNDEDQVGAAKALLRLQDTYNLDTDTISKGNLPGVKHKS
                     FLTAEDCFELGKVAYTEADYYHTELWMEQALRQLDEGEISTIDKVSVLDYLSYAVYQQ
                     GDLDKALLLTKKLLELDPEHQRANGNLKYFEYIMAKEKDVNKSASDDQSDQKTTPKKK
                     GVAVDYLPERQKYEMLCRGEGIKMTPRRQKKLFCRYHDGNRNPKFILAPAKQEDEWDK
                     PRIIRFHDIISDAEIEIVKDLAKPRLRRATISNPITGDLETVHYRISKSAWLSGYENP
                     VVSRINMRIQDLTGLDVSTAEELQVANYGVGGQYEPHFDFARKDEPDAFKELGTGNRI
                     ATWLFYMSDVSAGGATVFPEVGASVWPKKGTAVFWYNLFASGEGDYSTRHAACPVLVG
                     NKWVSNKWLHERGQEFRRPCTLSELE"
     exon            210..306
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            307..458
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            459..596
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            597..836
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            837..1033
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1210
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1281
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1381
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..1435
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1501
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1502..1570
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1667
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     exon            1668..2743
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2743
                     /gene="P4HA1"
                     /gene_synonym="P4HA"
                     /note="major polyA site"
ORIGIN      
        1 gcccagtcgc gccgccagcg ggctgagggt aggaagtagc cgctccgagt ggaggcgact
       61 gggggctgaa gagcgcgccg ccctctcgtc ccactttcca ggtgtgtgat cctgtaaaat
      121 taaatcttcc aagatgatct ggtatatatt aattatagga attctgcttc cccagtcttt
      181 ggctcatcca ggctttttta cttcaattgg tcagatgact gatttgatcc atactgagaa
      241 agatctggtg acttctctga aagattatat taaggcagaa gaggacaagt tagaacaaat
      301 aaaaaaatgg gcagagaagt tagatcggct aactagtaca gcgacaaaag atccagaagg
      361 atttgttggg catccagtaa atgcattcaa attaatgaaa cgtctgaata ctgagtggag
      421 tgagttggag aatctggtcc ttaaggatat gtcagatggc tttatctcta acctaaccat
      481 tcagagacag tactttccta atgatgaaga tcaggttggg gcagccaaag ctctgttacg
      541 tctccaggat acctacaatt tggatacaga taccatctca aagggtaatc ttccaggagt
      601 gaaacacaaa tcttttctaa cggctgagga ctgctttgag ttgggcaaag tggcctatac
      661 agaagcagat tattaccata cggaactgtg gatggaacaa gccctaaggc aactggatga
      721 aggcgagatt tctaccatag ataaagtctc tgttctagat tatttgagct atgcggtata
      781 tcagcaggga gacctggata aggcactttt gctcacaaag aagcttcttg aactagatcc
      841 tgaacatcag agagctaatg gtaacttaaa atattttgag tatataatgg ctaaagaaaa
      901 agatgtcaat aagtctgctt cagatgacca atctgatcag aaaactacac caaagaaaaa
      961 aggggttgct gtggattacc tgccagagag acagaagtac gaaatgctgt gccgtgggga
     1021 gggtatcaaa atgacccctc ggagacagaa aaaactcttt tgccgctacc atgatggaaa
     1081 ccgtaatcct aaatttattc tggctccagc taaacaggag gatgaatggg acaagcctcg
     1141 tattattcgc ttccatgata ttatttctga tgcagaaatt gaaatcgtca aagacctagc
     1201 aaaaccaagg ctgaggcgag ccaccatttc aaacccaata acaggagact tggagacggt
     1261 acattacaga attagcaaaa gtgcctggct ctctggctat gaaaatcctg tggtgtctcg
     1321 aattaatatg agaatacaag atctaacagg actagatgtt tccacagcag aggaattaca
     1381 ggtagcaaat tatggagttg gaggacagta tgaaccccat tttgactttg cacggaaaga
     1441 tgagccagat gctttcaaag agctggggac aggaaataga attgctacat ggctgtttta
     1501 tatgagtgat gtgtctgcag gaggagccac tgtttttcct gaagttggag ctagtgtttg
     1561 gcccaaaaaa ggaactgctg ttttctggta taatctgttt gccagtggag aaggagatta
     1621 tagtacacgg catgcagcct gtccagtgct agttggcaac aaatgggtat ccaataaatg
     1681 gctccatgaa cgtggacaag aatttcgaag accttgtacg ttgtcagaat tggaatgaca
     1741 aacaggcttc cctttttctc ctattgttgt actcttatgt gtctgatata cacatttcct
     1801 agtcttaact ttcaggagtt tacaattgac taacactcca tgattgattc agtcatgaac
     1861 ctcatcccat gtttcatctg tggacaattg cttactttgt gggttctttt aaaagtaaca
     1921 cgaaatcatc atattgcata aaaccttaaa gttctgttgg tatcacagaa gacaaggcag
     1981 agtttaaagt gaggaatttt atatttaaag aactttttgg ttggataaaa acataatttg
     2041 agcatccagt tttagtattt cactacatct cagttggtgg gtgttaagct agaatgggct
     2101 gtgtgatagg aaacaaatgc cttacagatg tgcctaggtg ttctgtttac ctagtgtctt
     2161 actctgtttt ctggatctga agactagtaa taaactagga cactaactgg gttccatgtg
     2221 attgcccttt catatgatct tctaagttga tttttttcct cccaagtctt ttttaaagaa
     2281 agtatactgt attttaccaa ccccctctct tttcttttag ctcctctgtg gtgaattaaa
     2341 cgtacttgag ttaaaatatt tcgatttttt tttttttttt aatggaaagt cctgcataac
     2401 aacactgggc cttcttaact aaaatgctca ccacttagcc tgttttttta tccctttttt
     2461 aaaatgacag atgattttgt tcaggaattt tgctgttttt cttagtgcta ataccttgcc
     2521 tcttattcct gctacagcag ggtggtaata ttggcattct gattaaatac tgtgccttag
     2581 gagactggaa gtttaaaaat gtacaagtcc tttcagtgat gagggaattg atttttttta
     2641 aaagtctttt tcttagaaag ccaaaatgtt tgttttttta agattctgaa atgtgttgtg
     2701 acaacaatga cctatttatg atcttaaatc ttttttaaaa aaa
//
