LOCUS       NM_001235               2058 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens serpin family H member 1 (SERPINH1), transcript
            variant 2, mRNA.
ACCESSION   NM_001235 NM_004353
VERSION     NM_001235.5
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 2058)
  AUTHORS   Wang,Y.J., Di,X.J., Zhang,P.P., Chen,X., Williams,M.P., Han,D.Y.,
            Nashmi,R., Henderson,B.J., Moss,F.J. and Mu,T.W.
  TITLE     Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the
            endoplasmic reticulum
  JOURNAL   Elife 13, e84798 (2024)
   PUBMED   38963323
  REMARK    GeneRIF: Hsp47 promotes biogenesis of multi-subunit neuroreceptors
            in the endoplasmic reticulum.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2058)
  AUTHORS   Murugesan,D., Kannan,B., As,S.G., Jayaseelan,V.P. and Arumugam,P.
  TITLE     Alteration of SERPINH1 is associated with elevated expression in
            head and neck squamous cell carcinomas and its clinicopathological
            significance
  JOURNAL   J Stomatol Oral Maxillofac Surg 125 (3S), 101811 (2024)
   PUBMED   38432483
  REMARK    GeneRIF: Alteration of SERPINH1 is associated with elevated
            expression in head and neck squamous cell carcinomas and its
            clinicopathological significance.
REFERENCE   3  (bases 1 to 2058)
  AUTHORS   Manderstedt,E., Lind-Hallden,C., Hallden,C., Elf,J., Svensson,P.J.,
            Engstrom,G., Melander,O., Baras,A., Lotta,L.A. and Zoller,B.
  CONSRTM   Regeneron Genetics Center
  TITLE     SERPINH1 variants and thrombotic risk among middle-aged and older
            adults: a population-based cohort study
  JOURNAL   J Thromb Haemost 22 (3), 869-873 (2024)
   PUBMED   38101577
  REMARK    GeneRIF: SERPINH1 variants and thrombotic risk among middle-aged
            and older adults: a population-based cohort study.
REFERENCE   4  (bases 1 to 2058)
  AUTHORS   Wei,D., Ma,Z., Zhu,T., Wang,H., Wang,B., Fu,L. and Yu,G.
  TITLE     miR-29c-3p represses the angiogenesis of esophageal squamous cell
            carcinoma by targeting SERPINH1 to regulate the Wnt signaling
            pathway
  JOURNAL   Acta Cir Bras 38, e385223 (2023)
   PUBMED   38055382
  REMARK    GeneRIF: miR-29c-3p represses the angiogenesis of esophageal
            squamous cell carcinoma by targeting SERPINH1 to regulate the Wnt
            signaling pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2058)
  AUTHORS   Wang,H., Parry,S., Macones,G., Sammel,M.D., Kuivaniemi,H.,
            Tromp,G., Argyropoulos,G., Halder,I., Shriver,M.D., Romero,R. and
            Strauss,J.F. 3rd.
  TITLE     A functional SNP in the promoter of the SERPINH1 gene increases
            risk of preterm premature rupture of membranes in African Americans
  JOURNAL   Proc Natl Acad Sci U S A 103 (36), 13463-13467 (2006)
   PUBMED   16938879
  REMARK    GeneRIF: A functional SNP in the promoter of the SERPINH1 gene
            increases risk of preterm premature rupture of membranes in African
            Americans.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19212]
REFERENCE   6  (bases 1 to 2058)
  AUTHORS   Nagai,N., Tetuya,Y., Hosokawa,N. and Nagata,K.
  TITLE     The human genome has only one functional hsp47 gene (CBP2) and a
            pseudogene (pshsp47)
  JOURNAL   Gene 227 (2), 241-248 (1999)
   PUBMED   10023073
REFERENCE   7  (bases 1 to 2058)
  AUTHORS   Ikegawa,S. and Nakamura,Y.
  TITLE     Structure of the gene encoding human colligin-2 (CBP2)
  JOURNAL   Gene 194 (2), 301-303 (1997)
   PUBMED   9272875
REFERENCE   8  (bases 1 to 2058)
  AUTHORS   Bekri,S., Adelaide,J., Merscher,S., Grosgeorge,J., Caroli-Bosc,F.,
            Perucca-Lostanlen,D., Kelley,P.M., Pebusque,M.J., Theillet,C.,
            Birnbaum,D. and Gaudray,P.
  TITLE     Detailed map of a region commonly amplified at 11q13-->q14 in human
            breast carcinoma
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 125-131 (1997)
   PUBMED   9533029
REFERENCE   9  (bases 1 to 2058)
  AUTHORS   Ikegawa,S., Sudo,K., Okui,K. and Nakamura,Y.
  TITLE     Isolation, characterization and chromosomal assignment of human
            colligin-2 gene (CBP2)
  JOURNAL   Cytogenet Cell Genet 71 (2), 182-186 (1995)
   PUBMED   7656593
REFERENCE   10 (bases 1 to 2058)
  AUTHORS   Clarke,E.P. and Sanwal,B.D.
  TITLE     Cloning of a human collagen-binding protein, and its homology with
            rat gp46, chick hsp47 and mouse J6 proteins
  JOURNAL   Biochim Biophys Acta 1129 (2), 246-248 (1992)
   PUBMED   1309665
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002815.3, BC036298.1,
            AK130870.1 and BQ016136.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_001235.4.
            
            Summary: This gene encodes a member of the serpin superfamily of
            serine proteinase inhibitors. The encoded protein is localized to
            the endoplasmic reticulum and plays a role in collagen biosynthesis
            as a collagen-specific molecular chaperone. Autoantibodies to the
            encoded protein have been found in patients with rheumatoid
            arthritis. Expression of this gene may be a marker for cancer, and
            nucleotide polymorphisms in this gene may be associated with
            preterm birth caused by preterm premature rupture of membranes.
            Alternatively spliced transcript variants have been observed for
            this gene, and a pseudogene of this gene is located on the short
            arm of chromosome 9. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC070087.1, AY264853.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358171.8/ ENSP00000350894.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AP002815.3         128423-128445
            24-334              BC036298.1         1-311
            335-699             AP002815.3         132753-133117
            700-1482            BC036298.1         677-1459
            1483-2057           AK130870.1         1458-2032
            2058-2058           BQ016136.1         35-35               c
FEATURES             Location/Qualifiers
     source          1..2058
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.5"
     gene            1..2058
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /note="serpin family H member 1"
                     /db_xref="GeneID:871"
                     /db_xref="HGNC:HGNC:1546"
                     /db_xref="MIM:600943"
     exon            1..67
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /inference="alignment:Splign:2.1.0"
     exon            68..723
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1358
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /note="serine (or cysteine) proteinase inhibitor, clade H
                     (heat shock protein 47), member 1, (collagen binding
                     protein 1); serpin peptidase inhibitor, clade H (heat
                     shock protein 47), member 1, (collagen binding protein 1);
                     colligin-2; serine (or cysteine) proteinase inhibitor,
                     clade H (heat shock protein 47), member 2,
                     (collagen-binding protein 2); rheumatoid arthritis antigen
                     A-47; serpin H1; arsenic-transactivated protein 3;
                     colligin-1; 47 kDa heat shock protein; cell
                     proliferation-inducing gene 14 protein; rheumatoid
                     arthritis-related antigen RA-A47"
                     /codon_start=1
                     /product="serpin H1 precursor"
                     /protein_id="NP_001226.2"
                     /db_xref="CCDS:CCDS8239.1"
                     /db_xref="GeneID:871"
                     /db_xref="HGNC:HGNC:1546"
                     /db_xref="MIM:600943"
                     /translation="MRSLLLLSAFCLLEAALAAEVKKPAAAAAPGTAEKLSPKAATLA
                     ERSAGLAFSLYQAMAKDQAVENILVSPVVVASSLGLVSLGGKATTASQAKAVLSAEQL
                     RDEEVHAGLGELLRSLSNSTARNVTWKLGSRLYGPSSVSFADDFVRSSKQHYNCEHSK
                     INFRDKRSALQSINEWAAQTTDGKLPEVTKDVERTDGALLVNAMFFKPHWDEKFHHKM
                     VDNRGFMVTRSYTVGVMMMHRTGLYNYYDDEKEKLQIVEMPLAHKLSSLIILMPHHVE
                     PLERLEKLLTKEQLKIWMGKMQKKAVAISLPKGVVEVTHDLQKHLAGLGLTEAIDKNK
                     ADLSRMSGKKDLYLASVFHATAFELDTDGNPFDQDIYGREELRSPKLFYADHPFIFLV
                     RDTQSGSLLFIGRLVRPKGDKMRDEL"
     exon            724..822
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /inference="alignment:Splign:2.1.0"
     exon            823..1055
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..2058
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2038..2043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /note="hexamer: AATAAA"
     polyA_site      2058
                     /gene="SERPINH1"
                     /gene_synonym="AsTP3; CBP1; CBP2; gp46; HSP47; OI10;
                     PIG14; PPROM; RA-A47; SERPINH2"
                     /note="major polyA site"
ORIGIN      
        1 aagagtagaa tcgtgtcgcg gctcgagagc gagagtcacg tcccggcgct agcccagccc
       61 gacccaggcc caccgtggtg cacgcaaacc acttcctggc catgcgctcc ctcctgcttc
      121 tcagcgcctt ctgcctcctg gaggcggccc tggccgccga ggtgaagaaa cctgcagccg
      181 cagcagctcc tggcactgcg gagaagttga gccccaaggc ggccacgctt gccgagcgca
      241 gcgccggcct ggccttcagc ttgtaccagg ccatggccaa ggaccaggca gtggagaaca
      301 tcctggtgtc acccgtggtg gtggcctcgt cgctagggct cgtgtcgctg ggcggcaagg
      361 cgaccacggc gtcgcaggcc aaggcagtgc tgagcgccga gcagctgcgc gacgaggagg
      421 tgcacgccgg cctgggcgag ctgctgcgct cactcagcaa ctccacggcg cgcaacgtga
      481 cctggaagct gggcagccga ctgtacggac ccagctcagt gagcttcgct gatgacttcg
      541 tgcgcagcag caagcagcac tacaactgcg agcactccaa gatcaacttc cgcgacaagc
      601 gcagcgcgct gcagtccatc aacgagtggg ccgcgcagac caccgacggc aagctgcccg
      661 aggtcaccaa ggacgtggag cgcacggacg gcgccctgct agtcaacgcc atgttcttca
      721 agccacactg ggatgagaaa ttccaccaca agatggtgga caaccgtggc ttcatggtga
      781 ctcggtccta taccgtgggt gtcatgatga tgcaccggac aggcctctac aactactacg
      841 acgacgagaa ggaaaagctg caaatcgtgg agatgcccct ggcccacaag ctctccagcc
      901 tcatcatcct catgccccat cacgtggagc ctctcgagcg ccttgaaaag ctgctaacca
      961 aagagcagct gaagatctgg atggggaaga tgcagaagaa ggctgttgcc atctccttgc
     1021 ccaagggtgt ggtggaggtg acccatgacc tgcagaaaca cctggctggg ctgggcctga
     1081 ctgaggccat tgacaagaac aaggccgact tgtcacgcat gtcaggcaag aaggacctgt
     1141 acctggccag cgtgttccac gccaccgcct ttgagttgga cacagatggc aacccctttg
     1201 accaggacat ctacgggcgc gaggagctgc gcagccccaa gctgttctac gccgaccacc
     1261 ccttcatctt cctagtgcgg gacacccaaa gcggctccct gctattcatt gggcgcctgg
     1321 tccggcctaa gggtgacaag atgcgagacg agttataggg cctcagggtg cacacaggat
     1381 ggcaggaggc atccaaaggc tcctgagaca catgggtgct attggggttg ggggggaggt
     1441 gaggtaccag ccttggatac tccatggggt gggggtggaa aaacagaccg gggttcccgt
     1501 gtgcctgagc ggaccttccc agctagaatt cactccactt ggacatgggc cccagatacc
     1561 atgatgctga gcccggaaac tccacatcct gtgggacctg ggccatagtc attctgcctg
     1621 ccctgaaagt cccagatcaa gcctgcctca atcagtattc atatttatag ccaggtacct
     1681 tctcacctgt gagaccaaat tgagctaggg gggtcagcca gccctcttct gacactaaaa
     1741 cacctcagct gcctccccag ctctatccca acctctccca actataaaac taggtgctgc
     1801 agcccctggg accaggcacc cccagaatga cctggccgca gtgaggcgga ttgagaagga
     1861 gctcccagga ggggcttctg ggcagactct ggtcaagaag catcgtgtct ggcgttgtgg
     1921 ggatgaactt tttgttttgt ttcttccttt tttagttctt caaagatagg gagggaaggg
     1981 ggaacatgag cctttgttgc tatcaatcca agaacttatt tgtacatttt ttttttcaat
     2041 aaaacttttc caatgaca
//
