LOCUS       NM_017704               1908 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA.
ACCESSION   NM_017704
VERSION     NM_017704.3
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 1908)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1908)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1908)
  AUTHORS   Zhou,X., Wang,W.T., Sun,J., Liu,H.Y., Bai,X.Y., Liu,J.J., Yu,B.F.,
            Guo,R. and Wang,H.L.
  TITLE     ANKRD49 inhibits etoposide-induced intrinsic apoptosis of GC-1
            cells by modulating NF-kappaB signaling
  JOURNAL   Mol Cell Biochem 457 (1-2), 21-29 (2019)
   PUBMED   30798416
  REMARK    GeneRIF: these results suggest that ANKRD49 plays an important role
            in reducing intrinsic apoptosis of GC-1 cells by modulating the
            NF-kappaB signaling pathway.
REFERENCE   4  (bases 1 to 1908)
  AUTHORS   Martinez-Noel,G., Luck,K., Kuhnle,S., Desbuleux,A., Szajner,P.,
            Galligan,J.T., Rodriguez,D., Zheng,L., Boyland,K., Leclere,F.,
            Zhong,Q., Hill,D.E., Vidal,M. and Howley,P.M.
  TITLE     Network Analysis of UBE3A/E6AP-Associated Proteins Provides
            Connections to Several Distinct Cellular Processes
  JOURNAL   J Mol Biol 430 (7), 1024-1050 (2018)
   PUBMED   29426014
REFERENCE   5  (bases 1 to 1908)
  AUTHORS   Liu,C.G., Cui,X.L., Wei,Z.G. and Guo,J.S.
  TITLE     High expression of the ANKRD49 protein is associated with
            progression and poor prognosis of gastric cancer
  JOURNAL   Cancer Biomark 22 (4), 649-656 (2018)
   PUBMED   29865034
  REMARK    GeneRIF: The results of the present study highlighted an important
            role of the ANKRD49 protein in the progression of gastric cancer.
            The ANKRD49 protein could act as a potential biomarker for
            prognosis evaluation of gastric cancer and may be used as a
            molecular target for gastric cancer treatment.
REFERENCE   6  (bases 1 to 1908)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1908)
  AUTHORS   Cockman,M.E., Lancaster,D.E., Stolze,I.P., Hewitson,K.S.,
            McDonough,M.A., Coleman,M.L., Coles,C.H., Yu,X., Hay,R.T.,
            Ley,S.C., Pugh,C.W., Oldham,N.J., Masson,N., Schofield,C.J. and
            Ratcliffe,P.J.
  TITLE     Posttranslational hydroxylation of ankyrin repeats in IkappaB
            proteins by the hypoxia-inducible factor (HIF) asparaginyl
            hydroxylase, factor inhibiting HIF (FIH)
  JOURNAL   Proc Natl Acad Sci U S A 103 (40), 14767-14772 (2006)
   PUBMED   17003112
REFERENCE   8  (bases 1 to 1908)
  AUTHORS   Blau,C.A., Barbas,C.F. 3rd, Bomhoff,A.L., Neades,R., Yan,J.,
            Navas,P.A. and Peterson,K.R.
  TITLE     {gamma}-Globin gene expression in chemical inducer of dimerization
            (CID)-dependent multipotential cells established from human
            {beta}-globin locus yeast artificial chromosome ({beta}-YAC)
            transgenic mice
  JOURNAL   J Biol Chem 280 (44), 36642-36647 (2005)
   PUBMED   16131492
REFERENCE   9  (bases 1 to 1908)
  AUTHORS   Pitts,S.A., Kullar,H.S., Stankovic,T., Stewart,G.S., Last,J.I.,
            Bedenham,T., Armstrong,S.J., Piane,M., Chessa,L., Taylor,A.M. and
            Byrd,P.J.
  TITLE     hMRE11: genomic structure and a null mutation identified in a
            transcript protected from nonsense-mediated mRNA decay
  JOURNAL   Hum Mol Genet 10 (11), 1155-1162 (2001)
   PUBMED   11371508
REFERENCE   10 (bases 1 to 1908)
  AUTHORS   Yang,Y., Duan,Z., Skarpidi,E., Li,Q., Papayannopoulou,T. and
            Stamatoyannopoulos,G.
  TITLE     Cloning and characterization of a potential transcriptional
            activator of human gamma-globin genes
  JOURNAL   Blood Cells Mol Dis 27 (1), 1-15 (2001)
   PUBMED   11162141
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000786.4, BG025192.1, BC017798.1, AK057696.1 and AL833977.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017704.2.
            
            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 :: SRR1163658.7934.1,
                                           SRR1803614.92340.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000544612.6/ ENSP00000440396.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AP000786.4         70680-70682
            4-52                BG025192.1         359-407
            53-1433             BC017798.1         33-1413
            1434-1907           AK057696.1         1676-2149
            1908-1908           AL833977.1         3003-3003
FEATURES             Location/Qualifiers
     source          1..1908
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     gene            1..1908
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /note="ankyrin repeat domain 49"
                     /db_xref="GeneID:54851"
                     /db_xref="HGNC:HGNC:25970"
                     /db_xref="MIM:619571"
     exon            1..52
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /inference="alignment:Splign:2.1.0"
     exon            53..400
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..862
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /note="fetal globin-inducing factor"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 49"
                     /protein_id="NP_060174.2"
                     /db_xref="CCDS:CCDS8300.1"
                     /db_xref="GeneID:54851"
                     /db_xref="HGNC:HGNC:25970"
                     /db_xref="MIM:619571"
                     /translation="MEKEKGNDDGIPDQENSLDFSEHFNQLELLETHGHLIPTGTQSL
                     WVGNSDEDEEQDDKNEEWYRLQEKKMEKDPSRLLLWAAEKNRLTTVRRLLSEKATHVN
                     TRDEDEYTPLHRAAYSGHLDIVQELIAQGADVHAVTVDGWTPLHSACKWNNTRVASFL
                     LQHDADINAQTKGLLTPLHLAAGNRDSKDTLELLLMNRYVKPGLKNNLEETAFDIARR
                     TSIYHYLFEIVEGCTNSSPQS"
     exon            401..1908
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1884..1889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /note="hexamer: AATAAA"
     polyA_site      1908
                     /gene="ANKRD49"
                     /gene_synonym="FGIF; GBIF"
                     /note="major polyA site"
ORIGIN      
        1 aggagacgaa cccggaagtg agatgcaagg cggcgatttt cccttctgtc agatcttgat
       61 gaacaaagca gtcataattc atctctagaa agatttatat cctggcattt gaaatgcttt
      121 ttatttagaa tagtagtaaa aaatggaaaa agaaaaagga aatgatgatg gaataccaga
      181 ccaagagaat tccttggatt tttctgaaca ctttaaccaa cttgaattgt tggaaacaca
      241 tggacacctt attcctactg gtactcaaag tctttgggta ggcaattctg atgaagatga
      301 ggagcaagat gacaaaaatg aagagtggta tcgattgcaa gaaaaaaaaa tggaaaaaga
      361 cccaagcaga ttgcttcttt gggctgctga aaaaaatcgg cttaccacag tgcggagact
      421 cctttctgaa aaggccactc acgtgaacac tagggatgaa gatgagtata cccctcttca
      481 tcgagcagcc tacagtggac acttagatat tgttcaggag ctcattgcac agggggccga
      541 tgttcatgca gtgactgtgg atggctggac gcccctgcac agtgcttgta agtggaataa
      601 taccagagtg gcttctttct tactgcagca tgatgcagat atcaatgccc aaacaaaagg
      661 cctcttgacc cccttgcatc ttgctgctgg gaacagagac agcaaggata ccctagaact
      721 cctcctgatg aaccgttacg tcaaaccagg gctgaaaaac aacttggaag aaactgcatt
      781 tgatattgcc aggaggacaa gtatctatca ctacctcttt gaaattgtgg aaggctgtac
      841 aaattcttca cctcagtctt aacaattcta gtaattttcc taagtttcta aataccagtg
      901 cctcctgtgt gtgagatgta ttcccataat caaagttgac gtcaaacatc ttactacaaa
      961 aattcagtga cattcattat aacattcttc caagtgaatt gcctgacttt gatgtcaaaa
     1021 tgtatttgaa agtaatttgc atatatcttt aattatttct gtggagtttg tgattttttt
     1081 atcagaaata attttaatgt gtgtatactt aaaaacttga cacgggttgt acagaaactg
     1141 gtatttttgg tgctgataca agagaaatgt atttttaaat atcccacatc ctggatcttt
     1201 gttgggtatt tagtatattg acatatattt ttataaggtg aggtaactca gaacttaatt
     1261 taaaagtctt aaatattctg atacaattca gctgtcttct ctaccttacc atagccagtt
     1321 gctttcattt taaaccagag caagtaacat attagtgact tgaatcttca taagttaaag
     1381 taaaaaacag caaaaaacct agatctttgt cttttagaac acagaccatt ttcaggaaag
     1441 cagttagcta agtgtttaat tcatgaatat tgtatactgc atcccctacc acaatttaca
     1501 caatcctgtg gatagtccta cctcaccctg gtcaacctac atgatcctta agctaatggc
     1561 gaatcacgat gaccttgtag acatgcacac aactatacct ttgtccaaca gatcataata
     1621 tatctgctat ccaactggtt ttacctgcct aatcctactg atttgggcac tgcttgtata
     1681 gtctctcaag ttcacaggaa atgttgattt tctaaggtcc tcatttttac agagtataca
     1741 ggcaaagtga caggggaaaa ggaattagtc taagagtaag gggatgatta ttatattgag
     1801 gctaaaacca caaagtggct caggctttaa aaaaaaaaca ctgtggataa tgacaaaaag
     1861 cataagtaaa aatatttgag aaaaataaag tacaagtttt gaacaaca
//
