LOCUS       NM_152501               2088 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens pyrin and HIN domain family member 1 (PYHIN1),
            transcript variant 1, mRNA.
ACCESSION   NM_152501
VERSION     NM_152501.5
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 2088)
  AUTHORS   Massa,D., Baran,M., Bengoechea,J.A. and Bowie,A.G.
  TITLE     PYHIN1 regulates pro-inflammatory cytokine induction rather than
            innate immune DNA sensing in airway epithelial cells
  JOURNAL   J Biol Chem 295 (14), 4438-4450 (2020)
   PUBMED   32102850
  REMARK    GeneRIF: PYHIN1 regulates pro-inflammatory cytokine induction
            rather than innate immune DNA sensing in airway epithelial cells.
REFERENCE   2  (bases 1 to 2088)
  AUTHORS   Crow,M.S. and Cristea,I.M.
  TITLE     Human Antiviral Protein IFIX Suppresses Viral Gene Expression
            during Herpes Simplex Virus 1 (HSV-1) Infection and Is Counteracted
            by Virus-induced Proteasomal Degradation
  JOURNAL   Mol Cell Proteomics 16 (4 suppl 1), S200-S214 (2017)
   PUBMED   28077445
  REMARK    GeneRIF: Study demonstrates that IFIX antiviral functions work in
            part via viral transcriptional suppression and that HSV-1 has
            acquired mechanisms to block its functions via proteasome-dependent
            degradation.
REFERENCE   3  (bases 1 to 2088)
  AUTHORS   Torgerson,D.G., Ampleford,E.J., Chiu,G.Y., Gauderman,W.J.,
            Gignoux,C.R., Graves,P.E., Himes,B.E., Levin,A.M., Mathias,R.A.,
            Hancock,D.B., Baurley,J.W., Eng,C., Stern,D.A., Celedon,J.C.,
            Rafaels,N., Capurso,D., Conti,D.V., Roth,L.A., Soto-Quiros,M.,
            Togias,A., Li,X., Myers,R.A., Romieu,I., Van Den Berg,D.J., Hu,D.,
            Hansel,N.N., Hernandez,R.D., Israel,E., Salam,M.T., Galanter,J.,
            Avila,P.C., Avila,L., Rodriquez-Santana,J.R., Chapela,R.,
            Rodriguez-Cintron,W., Diette,G.B., Adkinson,N.F., Abel,R.A.,
            Ross,K.D., Shi,M., Faruque,M.U., Dunston,G.M., Watson,H.R.,
            Mantese,V.J., Ezurum,S.C., Liang,L., Ruczinski,I., Ford,J.G.,
            Huntsman,S., Chung,K.F., Vora,H., Li,X., Calhoun,W.J., Castro,M.,
            Sienra-Monge,J.J., del Rio-Navarro,B., Deichmann,K.A.,
            Heinzmann,A., Wenzel,S.E., Busse,W.W., Gern,J.E., Lemanske,R.F.
            Jr., Beaty,T.H., Bleecker,E.R., Raby,B.A., Meyers,D.A.,
            London,S.J., Gilliland,F.D., Burchard,E.G., Martinez,F.D.,
            Weiss,S.T., Williams,L.K., Barnes,K.C., Ober,C. and Nicolae,D.L.
  CONSRTM   Mexico City Childhood Asthma Study (MCAAS); Children's Health Study
            (CHS) and HARBORS study; Genetics of Asthma in Latino Americans
            (GALA) Study, Study of Genes-Environment and Admixture in Latino
            Americans (GALA2) and Study of African Americans, Asthma, Genes &
            Environments (SAGE); Childhood Asthma Research and Education (CARE)
            Network; Childhood Asthma Management Program (CAMP); Study of
            Asthma Phenotypes and Pharmacogenomic Interactions by
            Race-Ethnicity (SAPPHIRE); Genetic Research on Asthma in African
            Diaspora (GRAAD) Study
  TITLE     Meta-analysis of genome-wide association studies of asthma in
            ethnically diverse North American populations
  JOURNAL   Nat Genet 43 (9), 887-892 (2011)
   PUBMED   21804549
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2088)
  AUTHORS   Kimkong,I., Avihingsanon,Y. and Hirankarn,N.
  TITLE     Association of IFI200 gene polymorphisms with susceptibility to
            systemic lupus erythematosus
  JOURNAL   J Rheumatol 37 (7), 1544-1547 (2010)
   PUBMED   20595294
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2088)
  AUTHORS   Yamaguchi,H., Ding,Y., Lee,J.F., Zhang,M., Pal,A., Bornmann,W.,
            Yan,D.H. and Hung,M.C.
  TITLE     Interferon-inducible protein IFIXalpha inhibits cell invasion by
            upregulating the metastasis suppressor maspin
  JOURNAL   Mol Carcinog 47 (10), 739-743 (2008)
   PUBMED   18247378
  REMARK    GeneRIF: IFIXalpha suppressed the invasion activity of MDA-MB-468
            breast cancer cells, and its inhibitory effect was reversed by the
            knockdown of maspin
REFERENCE   6  (bases 1 to 2088)
  AUTHORS   Ding,Y., Lee,J.F., Lu,H., Lee,M.H. and Yan,D.H.
  TITLE     Interferon-inducible protein IFIXalpha1 functions as a negative
            regulator of HDM2
  JOURNAL   Mol Cell Biol 26 (5), 1979-1996 (2006)
   PUBMED   16479015
  REMARK    GeneRIF: IFIX alpha1 isoform functions as a tumor suppressor by
            repressing HDM2 function
REFERENCE   7  (bases 1 to 2088)
  AUTHORS   Ding,Y., Wang,L., Su,L.K., Frey,J.A., Shao,R., Hunt,K.K. and
            Yan,D.H.
  TITLE     Antitumor activity of IFIX, a novel interferon-inducible HIN-200
            gene, in breast cancer
  JOURNAL   Oncogene 23 (26), 4556-4566 (2004)
   PUBMED   15122330
  REMARK    GeneRIF: a new member of the hematopoietic interferon
            (IFN)-inducible nuclear protein. Six different alternatively
            spliced forms are transcribed from the IFIX gene
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB188734.1, AY185344.1,
            BC073133.1 and AW518129.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_152501.4.
            
            Summary: The protein encoded by this gene belongs to the HIN-200
            family of interferon-inducible proteins that share a 200-amino acid
            signature motif at their C-termini. HIN200 proteins are primarily
            nuclear and are involved in transcriptional regulation of genes
            important for cell cycle control, differentiation, and apoptosis.
            Downregulation of this gene is associated with breast cancer. This
            protein acts as a tumor suppressor by promoting ubiquitination and
            subsequent degradation of MDM2, which leads to stabilization of
            p53/TP53. Alternatively spliced transcript variants encoding
            different isoforms have been described for this gene. [provided by
            RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (alpha 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY185344.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368140.6/ ENSP00000357122.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DB188734.1         10-17
            9-1757              AY185344.1         1-1749
            1758-1925           BC073133.1         1612-1779
            1926-2077           AW518129.1         10-161              c
            2078-2088           BC073133.1         1914-1924
FEATURES             Location/Qualifiers
     source          1..2088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..2088
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /note="pyrin and HIN domain family member 1"
                     /db_xref="GeneID:149628"
                     /db_xref="HGNC:HGNC:28894"
                     /db_xref="MIM:612677"
     exon            1..225
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     exon            226..510
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     CDS             246..1724
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /note="isoform alpha 1 is encoded by transcript variant 1;
                     interferon-inducible protein X; pyrin and HIN
                     domain-containing protein 1"
                     /codon_start=1
                     /product="pyrin and HIN domain-containing protein 1
                     isoform alpha 1"
                     /protein_id="NP_689714.2"
                     /db_xref="CCDS:CCDS1178.1"
                     /db_xref="GeneID:149628"
                     /db_xref="HGNC:HGNC:28894"
                     /db_xref="MIM:612677"
                     /translation="MANNYKKIVLLKGLEVINDYHFRIVKSLLSNDLKLNPKMKEEYD
                     KIQIADLMEEKFPGDAGLGKLIEFFKEIPTLGDLAETLKREKLKVANKIESIPVKGII
                     PSKKTKQKEVYPATPACTPSNRLTAKGAEETLGPQKRKKPSEEETGTKRSKMSKEQTR
                     PSCSAGASTSTAMGRSPPPQTSSSAPPNTSSTESLKPLANRHATASKNIFREDPIIAM
                     VLNATKVFKYESSENEQRRMFHATVATQTQFFHVKVLNINLKRKFIKKRIIIISNYSK
                     RNSLLEVNEASSVSEAGPDQTFEVPKDIIRRAKKIPKINILHKQTSGYIVYGLFMLHT
                     KIVNRKTTIYEIQDKTGSMAVVGKGECHNIPCEKGDKLRLFCFRLRKRENMSKLMSEM
                     HSFIQIQKNTNQRSHDSRSMALPQEQSQHPKPSEASTTLPESHLKTPQMPPTTPSSSS
                     FTKKDETHPGAQSSPANFRITSPTVAPPLSSDTSTNRHPAVP"
     exon            511..656
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     exon            657..824
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     exon            825..1247
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1436
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1604
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1729
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
     exon            1730..2088
                     /gene="PYHIN1"
                     /gene_synonym="IFIX"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agagtatgag gaagccagca ctagtcaagt gactctaaga agggccattt tcccttgttg
       61 tctttgaaaa tacttcattt tcttagcatt tcaggagatt ataacatcct gtatttcagt
      121 ttctgagagc tttactgact gatttcccta ttcaaaacaa tcctcatttc ctacatttct
      181 gaagatctca agatctggac tactgttgaa gaaattccca gtaaggctca cttatatctt
      241 tagagatggc aaataactac aagaaaattg ttctactgaa aggattagag gtcatcaatg
      301 attatcattt tagaattgtt aagtccttac tgagtaacga tttaaaactt aatccaaaaa
      361 tgaaagaaga gtatgacaaa attcagattg ctgacttgat ggaggaaaag ttcccaggtg
      421 atgccggttt gggcaaacta atagaattct tcaaagaaat accaacactg ggagaccttg
      481 ctgaaactct taaaagagaa aagttaaaag ttgcaaataa aattgaatcc attccagtca
      541 aaggaataat cccatctaaa aagacgaaac agaaagaagt gtatcctgct acacctgcat
      601 gcaccccaag caaccgtctc acagctaaag gagcagagga gactcttgga cctcagaaaa
      661 gaaaaaaacc atctgaagaa gagactggaa ccaaaaggag taagatgtcc aaagagcaga
      721 ctcggccttc ctgctctgca ggagccagca cgtccacagc catgggccgt tccccacctc
      781 cccagacctc atcatcagct ccacccaaca cttcctcaac tgagagccta aaaccattgg
      841 ccaaccgtca cgcaactgcc agtaaaaata ttttccgaga agacccaata atcgcgatgg
      901 tactaaatgc aacaaaagta tttaaatatg aatcctcaga aaatgagcaa agaagaatgt
      961 ttcatgctac agtggctacg cagacacagt tctttcatgt gaaggtttta aacatcaact
     1021 tgaagaggaa attcattaaa aagagaatca tcattatatc aaattattcc aaacgtaata
     1081 gtctcctaga ggtgaatgaa gcctcttctg tatctgaagc tggtcctgac caaacgtttg
     1141 aggttccaaa ggacatcatc agaagagcaa agaaaattcc gaagatcaat attcttcaca
     1201 aacaaacttc aggatatatt gtatatggat tatttatgct acatacgaaa attgtaaata
     1261 ggaagacgac aatctatgaa attcaggata aaacaggaag tatggctgta gtaggaaaag
     1321 gagaatgcca caatatcccc tgtgaaaaag gagataagct tcgactcttc tgctttcgac
     1381 tgagaaagag ggaaaatatg tcaaaactga tgtcagaaat gcatagtttc atccagatac
     1441 agaaaaatac aaaccagaga agccatgact ccaggagcat ggcactaccc caggaacaga
     1501 gtcagcatcc aaaaccttca gaggccagca caaccctacc tgaaagccat ctcaagactc
     1561 ctcagatgcc accaacaacc ccatccagca gttccttcac caagaaggat gaaacccacc
     1621 caggagcaca gtcatcgcct gcaaacttta gaatcacctc accaactgtg gcccctcctc
     1681 tttcttctga cacttccacc aaccgccatc cagcagttcc ttaaataagg tcaccaagga
     1741 caaggatatc aaataactac tgttcaatct ttactcaagt gtggaaattt tgcctgaagt
     1801 cctccaccta aaaacctgat gccattggta atgatgttta tgaagataag atcaaagcac
     1861 agaaaataat atatgtatat atatctggtt gaaatactat atatatatat atatatatat
     1921 atatatatat atatatatat atataccagc tattaattct aggaaatgga gtattaaggg
     1981 tgcattttat ttcattagtt ttacttttat gcattttctt catatcatat tttgcattca
     2041 gaattttcat aatttgaaaa aaaataaact tttttttctt aaagagtg
//
