LOCUS       NM_003254                769 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA.
ACCESSION   NM_003254
VERSION     NM_003254.3
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 769)
  AUTHORS   Fu,C.K., Lee,H.T., Chen,J.C., Yang,M.D., Cheng,H.C., Mong,M.C.,
            Tsai,C.W., Chang,W.S., Hung,Y.C. and Bau,D.T.
  TITLE     Contributions of Tissue Inhibitor of Metalloproteinase-1 Genotypes
            to the Risk of Metastasis in Gastric Cancer
  JOURNAL   Anticancer Res 44 (11), 4833-4841 (2024)
   PUBMED   39477311
  REMARK    GeneRIF: Contributions of Tissue Inhibitor of Metalloproteinase-1
            Genotypes to the Risk of Metastasis in Gastric Cancer.
REFERENCE   2  (bases 1 to 769)
  AUTHORS   Lin,X., Zhao,R., Bin,Y., Huo,R., Xue,G. and Wu,J.
  TITLE     TIMP1 promotes thyroid cancer cell progression through macrophage
            phenotypic polarization via the PI3K/AKT signaling pathway
  JOURNAL   Genomics 116 (5), 110914 (2024)
   PUBMED   39128817
  REMARK    GeneRIF: TIMP1 promotes thyroid cancer cell progression through
            macrophage phenotypic polarization via the PI3K/AKT signaling
            pathway.
REFERENCE   3  (bases 1 to 769)
  AUTHORS   Langguth,M., Maranou,E., Koskela,S.A., Elenius,O., Kallionpaa,R.E.,
            Birkman,E.M., Pulkkinen,O.I., Sundvall,M., Salmi,M. and
            Figueiredo,C.R.
  TITLE     TIMP-1 is an activator of MHC-I expression in myeloid dendritic
            cells with implications for tumor immunogenicity
  JOURNAL   Genes Immun 25 (3), 188-200 (2024)
   PUBMED   38777826
  REMARK    GeneRIF: TIMP-1 is an activator of MHC-I expression in myeloid
            dendritic cells with implications for tumor immunogenicity.
REFERENCE   4  (bases 1 to 769)
  AUTHORS   O'Shea,M., Willenbrock,F., Williamson,R.A., Cockett,M.I.,
            Freedman,R.B., Reynolds,J.J., Docherty,A.J. and Murphy,G.
  TITLE     Site-directed mutations that alter the inhibitory activity of the
            tissue inhibitor of metalloproteinases-1: importance of the
            N-terminal region between cysteine 3 and cysteine 13
  JOURNAL   Biochemistry 31 (42), 10146-10152 (1992)
   PUBMED   1420137
REFERENCE   5  (bases 1 to 769)
  AUTHORS   Osthues,A., Knauper,V., Oberhoff,R., Reinke,H. and Tschesche,H.
  TITLE     Isolation and characterization of tissue inhibitors of
            metalloproteinases (TIMP-1 and TIMP-2) from human rheumatoid
            synovial fluid
  JOURNAL   FEBS Lett 296 (1), 16-20 (1992)
   PUBMED   1730286
REFERENCE   6  (bases 1 to 769)
  AUTHORS   Van Ranst,M., Norga,K., Masure,S., Proost,P., Vandekerckhove,F.,
            Auwerx,J., Van Damme,J. and Opdenakker,G.
  TITLE     The cytokine-protease connection: identification of a 96-kD THP-1
            gelatinase and regulation by interleukin-1 and cytokine inducers
  JOURNAL   Cytokine 3 (3), 231-239 (1991)
   PUBMED   1653055
REFERENCE   7  (bases 1 to 769)
  AUTHORS   Williamson,R.A., Marston,F.A., Angal,S., Koklitis,P., Panico,M.,
            Morris,H.R., Carne,A.F., Smith,B.J., Harris,T.J. and Freedman,R.B.
  TITLE     Disulphide bond assignment in human tissue inhibitor of
            metalloproteinases (TIMP)
  JOURNAL   Biochem J 268 (2), 267-274 (1990)
   PUBMED   2163605
REFERENCE   8  (bases 1 to 769)
  AUTHORS   Spurr,N.K., Goodfellow,P.N. and Docherty,A.J.
  TITLE     Chromosomal assignment of the gene encoding the human tissue
            inhibitor of metalloproteinases to Xp11.1-p11.4
  JOURNAL   Ann Hum Genet 51 (3), 189-194 (1987)
   PUBMED   3688834
REFERENCE   9  (bases 1 to 769)
  AUTHORS   Huebner,K., Isobe,M., Gasson,J.C., Golde,D.W. and Croce,C.M.
  TITLE     Localization of the gene encoding human erythroid-potentiating
            activity to chromosome region Xp11.1----Xp11.4
  JOURNAL   Am J Hum Genet 38 (6), 819-826 (1986)
   PUBMED   3460333
REFERENCE   10 (bases 1 to 769)
  AUTHORS   Carmichael,D.F., Sommer,A., Thompson,R.C., Anderson,D.C.,
            Smith,C.G., Welgus,H.G. and Stricklin,G.P.
  TITLE     Primary structure and cDNA cloning of human fibroblast collagenase
            inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 83 (8), 2407-2411 (1986)
   PUBMED   3010309
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000866.1 and BC007097.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003254.2.
            
            Summary: This gene belongs to the TIMP gene family. The proteins
            encoded by this gene family are natural inhibitors of the matrix
            metalloproteinases (MMPs), a group of peptidases involved in
            degradation of the extracellular matrix. In addition to its
            inhibitory role against most of the known MMPs, the encoded protein
            is able to promote cell proliferation in a wide range of cell
            types, and may also have an anti-apoptotic function. Transcription
            of this gene is highly inducible in response to many cytokines and
            hormones. In addition, the expression from some but not all
            inactive X chromosomes suggests that this gene inactivation is
            polymorphic in human females. This gene is located within intron 6
            of the synapsin I gene and is transcribed in the opposite
            direction. [provided by RefSeq, Jul 2008].
            
            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 :: BC000866.1, GQ891504.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218388.9/ ENSP00000218388.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-418               BC000866.1         99-516
            419-556             BC007097.1         465-602
            557-769             BC000866.1         655-867
FEATURES             Location/Qualifiers
     source          1..769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..769
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /note="TIMP metallopeptidase inhibitor 1"
                     /db_xref="GeneID:7076"
                     /db_xref="HGNC:HGNC:11820"
                     /db_xref="MIM:305370"
     exon            1..39
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            40..168
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..671
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /note="erythroid potentiating activity; fibroblast
                     collagenase inhibitor; metalloproteinase inhibitor 1;
                     tissue inhibitor of metalloproteinases 1; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="metalloproteinase inhibitor 1 precursor"
                     /protein_id="NP_003245.1"
                     /db_xref="CCDS:CCDS14281.1"
                     /db_xref="GeneID:7076"
                     /db_xref="HGNC:HGNC:11820"
                     /db_xref="MIM:305370"
                     /translation="MAPFEPLASGILLLLWLIAPSRACTCVPPHPQTAFCNSDLVIRA
                     KFVGTPEVNQTTLYQRYEIKMTKMYKGFQALGDAADIRFVYTPAMESVCGYFHRSHNR
                     SEEFLIAGKLQDGLLHITTCSFVAPWNSLSLAQRRGFTKTYTVGCEECTVFPCLSIPC
                     KLQSGTHCLWTDQLLQGSEKGFQSRHLACLPREPGLCTWQSLRSQIA"
     exon            169..248
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            249..375
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            376..500
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            501..769
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      748..753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /note="hexamer: AATAAA"
     polyA_site      769
                     /gene="TIMP1"
                     /gene_synonym="CLGI; EPA; EPO; HCI; TIMP; TIMP-1"
                     /note="major polyA site"
ORIGIN      
        1 gccatcgccg cagatccagc gcccagagag acaccagaga acccaccatg gccccctttg
       61 agcccctggc ttctggcatc ctgttgttgc tgtggctgat agcccccagc agggcctgca
      121 cctgtgtccc accccaccca cagacggcct tctgcaattc cgacctcgtc atcagggcca
      181 agttcgtggg gacaccagaa gtcaaccaga ccaccttata ccagcgttat gagatcaaga
      241 tgaccaagat gtataaaggg ttccaagcct taggggatgc cgctgacatc cggttcgtct
      301 acacccccgc catggagagt gtctgcggat acttccacag gtcccacaac cgcagcgagg
      361 agtttctcat tgctggaaaa ctgcaggatg gactcttgca catcactacc tgcagttttg
      421 tggctccctg gaacagcctg agcttagctc agcgccgggg cttcaccaag acctacactg
      481 ttggctgtga ggaatgcaca gtgtttccct gtttatccat cccctgcaaa ctgcagagtg
      541 gcactcattg cttgtggacg gaccagctcc tccaaggctc tgaaaagggc ttccagtccc
      601 gtcaccttgc ctgcctgcct cgggagccag ggctgtgcac ctggcagtcc ctgcggtccc
      661 agatagcctg aatcctgccc ggagtggaag ctgaagcctg cacagtgtcc accctgttcc
      721 cactcccatc tttcttccgg acaatgaaat aaagagttac cacccagca
//
