LOCUS       NM_001166345            5373 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens MyoD family inhibitor domain containing (MDFIC),
            transcript variant 1, mRNA.
ACCESSION   NM_001166345
VERSION     NM_001166345.3
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 5373)
  AUTHORS   Zhou,Z., Ma,X., Lin,Y., Cheng,D., Bavi,N., Secker,G.A., Li,J.V.,
            Janbandhu,V., Sutton,D.L., Scott,H.S., Yao,M., Harvey,R.P.,
            Harvey,N.L., Corry,B., Zhang,Y. and Cox,C.D.
  TITLE     MyoD-family inhibitor proteins act as auxiliary subunits of Piezo
            channels
  JOURNAL   Science 381 (6659), 799-804 (2023)
   PUBMED   37590348
  REMARK    GeneRIF: MyoD-family inhibitor proteins act as auxiliary subunits
            of Piezo channels.
REFERENCE   2  (bases 1 to 5373)
  AUTHORS   Byrne,A.B., Brouillard,P., Sutton,D.L., Kazenwadel,J.,
            Montazaribarforoushi,S., Secker,G.A., Oszmiana,A., Babic,M.,
            Betterman,K.L., Brautigan,P.J., White,M., Piltz,S.G., Thomas,P.Q.,
            Hahn,C.N., Rath,M., Felbor,U., Korenke,G.C., Smith,C.L., Wood,K.H.,
            Sheppard,S.E., Adams,D.M., Kariminejad,A., Helaers,R., Boon,L.M.,
            Revencu,N., Moore,L., Barnett,C., Haan,E., Arts,P., Vikkula,M.,
            Scott,H.S. and Harvey,N.L.
  TITLE     Pathogenic variants in MDFIC cause recessive central conducting
            lymphatic anomaly with lymphedema
  JOURNAL   Sci Transl Med 14 (634), eabm4869 (2022)
   PUBMED   35235341
  REMARK    GeneRIF: Pathogenic variants in MDFIC cause recessive central
            conducting lymphatic anomaly with lymphedema.
REFERENCE   3  (bases 1 to 5373)
  AUTHORS   Sui,Y., Li,X., Oh,S., Zhang,B., Freeman,W.M., Shin,S. and
            Janknecht,R.
  TITLE     Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in
            Colorectal Cancer
  JOURNAL   Sci Rep 10 (1), 8710 (2020)
   PUBMED   32457453
  REMARK    GeneRIF: Opposite Roles of the JMJD1A Interaction Partners MDFI and
            MDFIC in Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5373)
  AUTHORS   Oakley,R.H., Busillo,J.M. and Cidlowski,J.A.
  TITLE     Cross-talk between the glucocorticoid receptor and MyoD family
            inhibitor domain-containing protein provides a new mechanism for
            generating tissue-specific responses to glucocorticoids
  JOURNAL   J Biol Chem 292 (14), 5825-5844 (2017)
   PUBMED   28223352
  REMARK    GeneRIF: GR directly represses the MDFIC gene, revealing a negative
            feedback loop by which glucocorticoids limit MDFIC activity. These
            findings identify a new binding partner for cytoplasmic GR that
            modulates the receptor transcriptome and contributes to the
            tissue-specific actions of glucocorticoids.
REFERENCE   5  (bases 1 to 5373)
  AUTHORS   Reiss-Sklan,E., Levitzki,A. and Naveh-Many,T.
  TITLE     The complex regulation of HIC (Human I-mfa domain containing
            protein) expression
  JOURNAL   PLoS One 4 (7), e6152 (2009)
   PUBMED   19582149
  REMARK    GeneRIF: strict regulation of HIC expression at the levels of mRNA
            stability, translation efficiency and protein stability suggests
            that expression of the HIC protein and its involvement in the
            various pathways is required only under specific cellular
            conditions
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5373)
  AUTHORS   Young,T.M., Wang,Q., Pe'ery,T. and Mathews,M.B.
  TITLE     The human I-mfa domain-containing protein, HIC, interacts with
            cyclin T1 and modulates P-TEFb-dependent transcription
  JOURNAL   Mol Cell Biol 23 (18), 6373-6384 (2003)
   PUBMED   12944466
REFERENCE   7  (bases 1 to 5373)
  AUTHORS   Kusano,S. and Raab-Traub,N.
  TITLE     I-mfa domain proteins interact with Axin and affect its regulation
            of the Wnt and c-Jun N-terminal kinase signaling pathways
  JOURNAL   Mol Cell Biol 22 (18), 6393-6405 (2002)
   PUBMED   12192039
REFERENCE   8  (bases 1 to 5373)
  AUTHORS   Thebault,S. and Mesnard,J.M.
  TITLE     How the sequestration of a protein interferes with its mechanism of
            action: example of a new family of proteins characterized by a
            particular cysteine-rich carboxy-terminal domain involved in gene
            expression regulation
  JOURNAL   Curr Protein Pept Sci 2 (2), 155-167 (2001)
   PUBMED   12370022
  REMARK    Review article
REFERENCE   9  (bases 1 to 5373)
  AUTHORS   Thebault,S., Basbous,J., Gay,B., Devaux,C. and Mesnard,J.M.
  TITLE     Sequence requirement for the nucleolar localization of human I-mfa
            domain-containing protein (HIC p40)
  JOURNAL   Eur J Cell Biol 79 (11), 834-838 (2000)
   PUBMED   11139147
REFERENCE   10 (bases 1 to 5373)
  AUTHORS   Thebault,S., Gachon,F., Lemasson,I., Devaux,C. and Mesnard,J.M.
  TITLE     Molecular cloning of a novel human I-mfa domain-containing protein
            that differently regulates human T-cell leukemia virus type I and
            HIV-1 expression
  JOURNAL   J Biol Chem 275 (7), 4848-4857 (2000)
   PUBMED   10671520
  REMARK    GeneRIF: Two isoforms, resulting from the use of a non-AUG (GUG)
            and a downstream in-frame AUG translation initiation codon, have
            different subcellular localization.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017003.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 5, 2021 this sequence version replaced NM_001166345.2.
            
            Summary: This gene product is a member of a family of proteins
            characterized by a specific cysteine-rich C-terminal domain, which
            is involved in transcriptional regulation of viral genome
            expression. Alternative translation initiation from an upstream
            non-AUG (GUG), and an in-frame, downstream AUG codon, results in
            the production of two isoforms, p40 and p32, respectively, which
            have different subcellular localization; p32 is mainly found in the
            cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms
            have transcriptional regulatory activity that is attributable to
            the cysteine-rich C-terminal domain. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. It encodes isoform p32 via the use of a downstream AUG
            translation initiation codon.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: AF054589.1, SRR12921934.4107697.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393486.6/ ENSP00000377126.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            regulatory uORF        :: PMID: 19582149
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-543               AC017003.4         12785-13327
            544-744             AC017003.4         13618-13818
            745-867             AC017003.4         32966-33088
            868-1143            AC017003.4         70197-70472
            1144-5373           AC017003.4         106378-110607
FEATURES             Location/Qualifiers
     source          1..5373
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.1-q31.2"
     gene            1..5373
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /note="MyoD family inhibitor domain containing"
                     /db_xref="GeneID:29969"
                     /db_xref="HGNC:HGNC:28870"
                     /db_xref="MIM:614511"
     exon            1..543
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      449..475
                     /regulatory_class="uORF"
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19582149]"
                     /note="this uORF is predicted to encode an 8 aa peptide
                     (PMID:19582149)"
     regulatory      536..613
                     /regulatory_class="uORF"
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19582149]"
                     /note="this uORF is predicted to encode a 25 aa peptide
                     (PMID:19582149)"
     exon            544..744
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             651..1391
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /note="isoform p32 is encoded by transcript variant 1;
                     I-mfa domain-containing protein"
                     /codon_start=1
                     /product="myoD family inhibitor domain-containing protein
                     isoform p32"
                     /protein_id="NP_001159817.1"
                     /db_xref="CCDS:CCDS55155.1"
                     /db_xref="GeneID:29969"
                     /db_xref="HGNC:HGNC:28870"
                     /db_xref="MIM:614511"
                     /translation="MSGAGEALAPGPVGPQRVAEAGGGQLGSTAQGKCDKDNTEKDIT
                     QATNSHFTHGEMQDQSIWGNPSDGELIRTQPQRLPQLQTSAQVPSGEEIGKIKNGHTG
                     LSNGNGIHHGAKHGSADNRKLSAPVSQKMHRKIQSSLSVNSDISKKSKVNAVFSQKTG
                     SSPEDCCVHCILACLFCEFLTLCNIVLGQASCGICTSEACCCCCGDEMGDDCNCPCDM
                     DCGIMDACCESSDCLEICMECCGICFPS"
     exon            745..867
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1143
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..5373
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4173..4178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /note="hexamer: AATACA"
     polyA_site      4200
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /note="major polyA site"
     regulatory      4639..4644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /note="hexamer: AATAAA"
     polyA_site      4667
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
     regulatory      5309..5314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /note="hexamer: ATTAAA"
     polyA_site      5334
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
     regulatory      5354..5359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
                     /note="hexamer: AATAAA"
     polyA_site      5373
                     /gene="MDFIC"
                     /gene_synonym="HIC; LMPHM12; MDFIC1"
ORIGIN      
        1 attcactccc ctttcccagc cccgggaggg cgcagcgccc gggtggggag cccgagccag
       61 cccaggccgg ctctggcctc ctgacccaga cagcgcaggg cgcgagggat cgcgcggccg
      121 agcccgggtc gcgccgctcc cagcatcggg gccgctagcc aagagttcga ggccttcccg
      181 atccggatgt gatgaaaaag agcaacagag ggagaagtgt ttcaggattg taggagtgga
      241 agaggggaaa gagaggcaga gagggggaag gccccctcgc aggggagccg gctggagtga
      301 gctggctgga aagagggggc ggagtgcgcg gagtcagagc cgccaccgct gccgcagttg
      361 ccgccactgc ggcgtctggg ctgagccgga gggaggcggg aggacgcgca ggggcggccg
      421 ccgccgtcgt caggccaccg gggcgaaaat gcggccgctg ccggaggctc gctaactttc
      481 cggggcggaa gaggaggagg aggaggagga aggggcttgg agcgactacg gggggatgcg
      541 gagaagcagt cagttccctg cacccagcac ctcacagccc ttcctccgtg cgccctgccg
      601 ggcggcgagc taggcggcag cggcgcggcg cgggctcggc ggagcggccc atgtccggcg
      661 cgggcgaagc cctcgctccc gggcccgtgg ggccgcagcg cgtggccgag gcgggcggcg
      721 gccagctggg ctccacagcc cagggaaaat gtgataaaga caatactgag aaagatataa
      781 ctcaagctac caatagccac ttcacacatg gagagatgca agaccagtcc atttggggaa
      841 atccttcgga tggtgaactc attagaaccc aacctcagcg cttgcctcag cttcagactt
      901 cagcccaggt gccaagtggt gaggaaatag gcaagataaa gaacggccac acaggtctga
      961 gcaatggaaa tggaattcac cacggggcca aacacggatc cgcagataat cgcaaacttt
     1021 cagcacctgt ttctcaaaaa atgcatagaa aaattcagtc cagcttgtct gtaaacagcg
     1081 atatcagtaa gaagagcaaa gtaaatgctg tcttttccca aaagacaggc tcttcacctg
     1141 aagattgttg tgtccactgt atcctggctt gcttgttctg cgaattcctg accctttgca
     1201 acattgtcct gggacaagcg tcatgtggca tctgcacctc agaagcctgc tgctgttgct
     1261 gtggtgacga gatgggggat gattgtaact gcccttgtga tatggactgt ggcatcatgg
     1321 atgcctgttg tgaatcatca gactgcttgg aaatctgtat ggaatgctgt ggaatttgtt
     1381 ttccttcata aatatttatc ttttgtttgt gttaaaactg gagagtgttt aaaaatttcc
     1441 ttttgggggg aagaaaagca cattgtaaga ttctcatgaa acaacatgga atttgcactg
     1501 ttaactcatt attgtaagta atctctgaaa gcctttttac tttaaccaaa tctacatggt
     1561 ttaatatgtg aaattttaac tactttaact agttttataa atttcttaat atgttacaat
     1621 aacttaggga cattttgaca ccccccttcc caaatgttaa atgccttctc ctttttaccg
     1681 atatttctgt ttcttttaac cgttctcagg agcactttgc tccaaatata ttatttttca
     1741 gtgtgtattt aaacgaggca gtttattttg atatgtatct attcatgatt gaaaggaagc
     1801 agtcttggcc aggcacggtg gcttacacct gtaaccctgg cattttggga ggccaaggtg
     1861 ggcagattgc ctgagctcag gagttcgaga ccagccaggg caacatggtg aaaccccatc
     1921 tctactaaaa tacaaaaagt tagctgggct tggcggtgtg cgcctgtagt cccagctact
     1981 caggaggctg aggcaggaga attgcttgaa cccgagaggc ggaagttgca gtgagccgag
     2041 attgtgccac tgaactccaa cctgcactcc agcctgggca acagagcgag actccatctc
     2101 taaataaata aataaataaa taaataaata aataaataaa taaacaaacc agtctttatt
     2161 ttaaaagaaa ctttaggaaa caaacccaca taatagttgg gaaccagtgt tgatctctct
     2221 cccttacctt ctccacttgt tcaacagact ctgaatgccg actgtgtgga ctctcttcct
     2281 cagactgtgg ggacagatac aattccactc ctgtccacag gaacatgaga tttagcagac
     2341 taaggagatc tgtaaagaat gaaccatacc acaaggcata ctgaagtgag gattataaga
     2401 gaaataaact caaaatgctg ttggaatatg cagagaattg ctaccagaat attcagtaag
     2461 gtttcaggga gaatgtggca tttgaggact ctcttagaat gagtgattca cctgctattt
     2521 aaatgaatta tttagatttt tgacaaagat ttaggtggac accctaaact gtgtgtgcct
     2581 ttaaccagtt aaaagaacag tgccttcagc atactttttt attagttgta ggaatacagc
     2641 tttttgaaaa agctataaag tttaaattaa ctaaaaatat gcattttctt acacataatt
     2701 taaatgttat catacttttt tgatgaaaac ataatgcctt agtaaaatag ctctatttaa
     2761 taaagaagat tgagtactct gacacatttc atttaaatta ggaaattttt aatattaaaa
     2821 tcccagtgtt ctgagttatt gaaaggcttt cttttatttt gagagcttta ggtctttttg
     2881 ggatgagaac attttagttg tttagtttgt ttcttaagca gtgctatttt ttgtaaacac
     2941 agataaatgg aaaccattct tttcaatgca gaagaaatct agatatcccc tactgtgacc
     3001 aaatttctgt attacgattt tatgttaaat taaactaata tggcaggtta taatgatcct
     3061 taagtgtaaa gaaatcagtc aattacaaga gtaattgtat agttattgag acctatagtg
     3121 tgtggcttag atgaaaggga gagtaaattt tcataccatg ctctctccta ctcagtttga
     3181 tctctctaaa attgtagttt ggtttgattt aatataattc ttagtagaaa ttttgaaagt
     3241 atgctttggg attaataatt atttttaatt tttctggctg aatatcaaat tgatagtaac
     3301 aacagaagca taattttagg aaggctttcg caaacctagc cttttaagag aggtttttaa
     3361 cctgaagcat gagaatatat cacctgtggt ttttcctttg agatgaaacg tagtttctag
     3421 ttatatcatt acttaaaggg cttaaaaaga aaaaacttag caaacttttg aatctttctt
     3481 ttattgctat ttacacatac atacacacat acaaaacctt taaattttgg gatctgaata
     3541 taattctggt aaacagctgt cttcattttt ctcctctaaa gaacttaatt catttgttac
     3601 ataaaatata aggaaatctt tatactattt tacagtaacc acaatctaaa tatttacata
     3661 tacccaaaat taacttatgc tcatatatta ggatgtgaga atatcatctg tttatggaca
     3721 catgaaacct cctaatgacc tggaattgtt agaatatttg actttttata tgcaaagttt
     3781 ttcaaccaag tggtttgtct aatatttaaa catgtactgg cacaatttgt gatgaaaata
     3841 ttagcacatt tgcaataatg tttctccata acagagaatg ttaatggata ccagaatttt
     3901 atttttgtat ttatgttcat agtacttttc ctcttgtcta ctccagacag ttattccata
     3961 aagcatttgt ataattaaaa ggaaaacaga aaaaggaaaa gtaggcaaat gtgaaaatag
     4021 tttcaatata tcttatgatt tcttaatgta aaatgttttg ttgaagtata tggctatcat
     4081 gactaagtgc tagaatttat agttacaggc ggtgtccttt taaatgtgga aaggctttta
     4141 aaatatttta aaactggacc tgtattatcc tgaatacact attttgaaaa tttttaaaaa
     4201 tgacttcttt attttgcttt accgtatgtt tatatctaat tgacatattg actaatgttt
     4261 gaaagaattc aaccataagt taaaatctga aggttatctt tatcatgttt catccctgtc
     4321 tgaagatttc ctagtcttct tatgtaaatc acatgactca tgtccgtaaa tgaactatga
     4381 aagatatcga tcagtttatg atcattgaca tgtgatttca aaacacagtg ttcttttaaa
     4441 aatctataat atgtcaaaat acaagttttt tttttttaca tcgttttagt aagttaattt
     4501 catttattta ctttggagct atatttccac ttagaaaaac taaggtaatt ttacaatata
     4561 tgctgagatt aaaaaccaag gtaaaaatga tcaaacatat atgaaattga gtcttagatt
     4621 taatgaattt cactcgaaaa taaatgatca gaagaatttt catctaaggc atagagtggc
     4681 gaaatttttg taaatgctcg cagttagcat ctaactaaaa caatacagta tgactttatt
     4741 taggagaagg ctttttattt agaaaattat tttttcattt ttacagtgta tcaactgtat
     4801 ccattttcct cacctggata gtcaatgtta tctgagcagt tcaaggagta accaaggcaa
     4861 ccttatgtaa taactttcca ttctttatcc atacaaactc tttcagtgcc ctagattcta
     4921 atgttataaa cgtcaaacat cactgcccaa cataaataag actcgagact tattaacata
     4981 aataagtatc ttgccttctt gaatgctagt taaatgctta gatttaccta actgcctaat
     5041 gaatcaggtt atttgttaat aagattattt ttcaaattat ttaagacctt tatgcccctt
     5101 ccaattactt gtgatttgta ggcctgtagg attgttgcat ctaatctgac tggcaacaga
     5161 aaatgtcatc aaatactata atatccattt tgttttcttt tgcactaata caacagaaca
     5221 tatcattttt gttttaaaca atggttaata tattaatagg gtttgttcca cacttactat
     5281 ttatagtttt tataatcaag cattgggtat taaaagagaa tcctttcaac ccttcatctt
     5341 cgtatgctta tacaataaat tgcagtgagt gtt
//
