LOCUS       NM_024921               3863 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens POF1B actin binding protein (POF1B), transcript
            variant 1, mRNA.
ACCESSION   NM_024921
VERSION     NM_024921.4
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 3863)
  AUTHORS   Yuan,Z.Z., Wang,C.Y., Jin,J.Y., Sheng,Y., Zhao,M.F., Fan,L.L. and
            Zhang,A.Q.
  TITLE     A novel POF1B variant in a Chinese patient is associated with
            premature ovarian failure
  JOURNAL   Clin Genet 100 (6), 773-774 (2021)
   PUBMED   34423420
  REMARK    GeneRIF: A novel POF1B variant in a Chinese patient is associated
            with premature ovarian failure.
REFERENCE   2  (bases 1 to 3863)
  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 3863)
  AUTHORS   Crespi,A., Bertoni,A., Ferrari,I., Padovano,V., Della Mina,P.,
            Berti,E., Villa,A. and Pietrini,G.
  TITLE     POF1B localizes to desmosomes and regulates cell adhesion in human
            intestinal and keratinocyte cell lines
  JOURNAL   J Invest Dermatol 135 (1), 192-201 (2015)
   PUBMED   25084053
  REMARK    GeneRIF: POF1B was restricted to granular layers in human healthy
            epidermis, whereas it largely increased in hyperproliferative human
            skin diseases, thus demonstrating the localization of POF1B also in
            desmosomes of multistratified epithelia.
REFERENCE   4  (bases 1 to 3863)
  AUTHORS   Padovano,V., Lucibello,I., Alari,V., Della Mina,P., Crespi,A.,
            Ferrari,I., Recagni,M., Lattuada,D., Righi,M., Toniolo,D., Villa,A.
            and Pietrini,G.
  TITLE     The POF1B candidate gene for premature ovarian failure regulates
            epithelial polarity
  JOURNAL   J Cell Sci 124 (Pt 19), 3356-3368 (2011)
   PUBMED   21940798
  REMARK    GeneRIF: The POF1B candidate gene for premature ovarian failure
            regulates epithelial polarity
REFERENCE   5  (bases 1 to 3863)
  AUTHORS   Rizzolio,F., Bione,S., Villa,A., Berti,E., Cassetti,A., Bulfone,A.,
            Tribioli,C. and Toniolo,D.
  TITLE     Spatial and temporal expression of POF1B, a gene expressed in
            epithelia
  JOURNAL   Gene Expr Patterns 7 (4), 529-534 (2007)
   PUBMED   17123869
REFERENCE   6  (bases 1 to 3863)
  AUTHORS   Lacombe,A., Lee,H., Zahed,L., Choucair,M., Muller,J.M.,
            Nelson,S.F., Salameh,W. and Vilain,E.
  TITLE     Disruption of POF1B binding to nonmuscle actin filaments is
            associated with premature ovarian failure
  JOURNAL   Am J Hum Genet 79 (1), 113-119 (2006)
   PUBMED   16773570
REFERENCE   7  (bases 1 to 3863)
  AUTHORS   Bione,S., Rizzolio,F., Sala,C., Ricotti,R., Goegan,M.,
            Manzini,M.C., Battaglia,R., Marozzi,A., Vegetti,W., Dalpra,L.,
            Crosignani,P.G., Ginelli,E., Nappi,R., Bernabini,S., Bruni,V.,
            Torricelli,F., Zuffardi,O. and Toniolo,D.
  TITLE     Mutation analysis of two candidate genes for premature ovarian
            failure, DACH2 and POF1B
  JOURNAL   Hum Reprod 19 (12), 2759-2766 (2004)
   PUBMED   15459172
  REMARK    GeneRIF: Our findings could not demonstrate any involvement of
            POF1B in premature ovarian failure
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3863)
  AUTHORS   Bione,S. and Toniolo,D.
  TITLE     X chromosome genes and premature ovarian failure
  JOURNAL   Semin Reprod Med 18 (1), 51-57 (2000)
   PUBMED   11299520
  REMARK    Review article
REFERENCE   9  (bases 1 to 3863)
  AUTHORS   Riva,P., Magnani,I., Fuhrmann Conti,A.M., Gelli,D., Sala,C.,
            Toniolo,D. and Larizza,L.
  TITLE     FISH characterization of the Xq21 breakpoint in a translocation
            carrier with premature ovarian failure
  JOURNAL   Clin Genet 50 (4), 267-269 (1996)
   PUBMED   9001815
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF309774.1, AK290360.1 and
            AI591162.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024921.3.
            
            Summary: Premature ovarian failure (POF) is characterized by
            primary or secondary amenorrhea in women less than 40 years old.
            Two POF susceptibility regions called 'POF1' and 'POF2' have been
            identified by breakpoint mapping of X-autosome translocations. POF1
            extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1.
            This gene, POF1B, resides in the POF2 region. This gene is
            expressed at trace levels in mouse prenatal ovary and is barely
            detectable or absent from adult ovary, in human and in the mouse
            respectively. This gene's expression is restricted to epithelia
            with its highest expression in the epidermis, and oro-pharyngeal
            and gastro-intestinal tracts. The protein encoded by this gene
            binds non-muscle actin filaments. The role this gene may play in
            the etiology of premature ovarian failure remains to be determined.
            [provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF309774.1, AK290360.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262753.9/ ENSP00000262753.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-506               AF309774.1         79-584
            507-1025            AK290360.1         534-1052
            1026-1882           AF309774.1         1104-1960
            1883-3367           AF309774.1         1962-3446
            3368-3863           AI591162.1         9-504               c
FEATURES             Location/Qualifiers
     source          1..3863
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..3863
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /note="POF1B actin binding protein"
                     /db_xref="GeneID:79983"
                     /db_xref="HGNC:HGNC:13711"
                     /db_xref="MIM:300603"
     exon            1..27
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            28..350
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1838
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein POF1B; premature ovarian failure protein 1B;
                     premature ovarian failure, 1B"
                     /codon_start=1
                     /product="protein POF1B isoform 1"
                     /protein_id="NP_079197.3"
                     /db_xref="CCDS:CCDS14452.1"
                     /db_xref="GeneID:79983"
                     /db_xref="HGNC:HGNC:13711"
                     /db_xref="MIM:300603"
                     /translation="MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPE
                     KNVVYERVRTYSGPMNKVVQALDPFNSREVLSPLKTTSSYQNLVWSDHSQELHSPTLK
                     ISTCAPSTLHITQNTEQELHSPTVKLTTYPQTTIRKYVVQNPEQEPLSQFLRGSHFFP
                     GNNVIYEKTIRKVEKLNTDQGCHPQAQCHHHIIQQPQVIHSAHWQQPDSSQQIQAITG
                     NNPISTHIGNELCHSGSSQICEQVIIQDDGPEKLDPRYFGELLADLSRKNTDLYHCLL
                     EHLQRIGGSKQDFESTDESEDIESLIPKGLSEFTKQQIRYILQMRGMSDKSLRLVLST
                     FSNIREELGHLQNDMTSLENDKMRLEKDLSFKDTQLKEYEELLASVRANNHQQQQGLQ
                     DSSSKCQALEENNLSLRHTLSDMEYRLKELEYCKRNLEQENQNLRMQVSETCTGPMLQ
                     AKMDEIGNHYTEMVKNLRMEKDREICRLRSQLNQYHKDVSKREGSCSDFQFKLHELTS
                     LLEEKDSLIKRQSEELSKLRQEIYSSHNQPSTGGRTTITTKKYRTQYPILGLLYDDYE
                     YIPPGSETQTIVIEKTEDKYTCP"
     exon            351..425
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            426..506
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            507..608
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            609..791
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            792..922
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            923..950
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1025
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1118
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1232
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1385
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..1505
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1506..1634
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1635..1717
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1718..1832
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1833..3863
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3840..3845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /note="hexamer: AATAAA"
     polyA_site      3863
                     /gene="POF1B"
                     /gene_synonym="POF; POF2B"
                     /note="major polyA site"
ORIGIN      
        1 gccagacctg ctcttgctgc tgctcaggta gaacatctgg gaggtccctt gctgaccact
       61 ggaagaagat gagctcgagc tattggagtg agacgagcag cagcagctgt ggaacccagc
      121 agctcccaga ggtgctgcag tgccagcccc agcattacca ctgctaccat cagtcaagcc
      181 aagcccagca gcctccagaa aaaaatgtag tgtatgagcg agtgaggacc tacagtgggc
      241 ccatgaacaa ggtggtgcag gccttggacc ccttcaactc acgggaagtg ctctcccctc
      301 tcaaaaccac ctcctcctac caaaatttgg tttggagcga ccattctcag gaactccatt
      361 ctccaacttt aaaaatatct acatgtgccc caagtactct acatataacc caaaatactg
      421 aacaggaact tcattctcca acagtgaaac ttactacata tccacagacc actattagga
      481 aatatgtagt acaaaatcct gaacaggaac cactgtctca attcctaaga ggaagccatt
      541 tcttcccagg aaacaatgtt atttatgaaa aaacaataag aaaagtggag aagctaaata
      601 ctgatcaggg gtgccatcct caggctcaat gccatcatca cattatccaa cagccccagg
      661 tcatccactc tgcacactgg caacaacctg attctagcca gcaaatccaa gccatcacag
      721 gaaataatcc aatttctaca catattggaa atgaactgtg ccatagtgga tcaagccaga
      781 tttgtgagca ggtgataatt caggatgatg gccctgaaaa attggacccc agatattttg
      841 gagagttgct tgctgatctg agccgtaaga atacggatct atatcactgc ttattagaac
      901 atttgcagag aattggagga agcaaacagg actttgagtc tacagatgag tcggaagaca
      961 ttgaatcatt gattcctaaa ggattatcag agtttacaaa acagcaaata cgctacattc
     1021 tgcagatgag gggtatgtct gataagtcac tccgactagt gctgtccaca tttagcaaca
     1081 tacgggagga gcttggacat cttcaaaatg atatgacatc actggaaaat gacaagatga
     1141 gacttgagaa agatttatca ttcaaagaca ctcaattaaa agagtacgaa gaactcttgg
     1201 catcagtgag agcaaataat caccagcagc agcaaggact tcaagactca agttcaaaat
     1261 gccaggcatt ggaagaaaac aatctctctc ttcgacatac actatcagac atggaataca
     1321 gactaaaaga actggaatat tgtaaacgta atttagagca agagaatcaa aaccttagaa
     1381 tgcaggtttc tgagacttgc acaggcccaa tgttgcaggc taaaatggat gagattggca
     1441 accactacac ggagatggta aaaaacttga gaatggagaa agatagagag atctgcagac
     1501 tgaggtccca attaaaccag taccataaag atgtttcaaa gagagaagga agttgtagtg
     1561 acttccaatt taagcttcat gaactgacaa gcttgctgga agagaaggat tccctcataa
     1621 agcgtcagtc agaggaactc tccaagttgc ggcaagaaat atattcctct cataaccaac
     1681 cctccactgg tggaaggact actattacca ctaaaaagta caggacacaa tatccaatcc
     1741 taggcctcct atatgatgac tacgaatata taccaccagg tagtgaaaca cagactattg
     1801 tgattgagaa aacagaagac aaatacactt gtccatgaat ggatccactt taaagtatta
     1861 caactcaaag ccgttttttt tttgtgtgtg tgtctctgca ttagtacttt gttatttttc
     1921 catcactaaa ggccaatcag aatttggaac catgctgcta cccaagaaat ctaatggaat
     1981 gaattagttc tgtagatgac aatttcttca cccatttatg agacctaaat cttttccata
     2041 acactcatgt attcagtata acaacatact aactgaaaga gggacctgat tgtttaaagt
     2101 ttgattgcag acactgtaga acataactca ttatgtttca gataaggtaa ctcctagata
     2161 tcaaactaat ttgttggggt agagatttta caagtcatgc cattagaaga ttttctctga
     2221 tattatatgt gcagttcagt tacaagatga aatcatgttt ttttaacaaa agagataaaa
     2281 tacaattgaa gcaaaaaata acagctagta tataatatat acagtctgta tttgcttttc
     2341 acagtaggcc tgatgactaa aagatatgct ttattacacg ctattttcac ctcttgaaag
     2401 tcaaaggtga tgattaattt catttagcag ggaagtggaa taatatcttt tgaaataact
     2461 aagtccacta aattatacag tatgctattc tggttctaag tacatattag tcccttggca
     2521 aatctgttct ttcaaagcat accttcccca aatgagccta cctacttctt aaaaaacata
     2581 taacacaatg tggtagtagt aggtgtaagg aaggtaagtt ttttcatagt ggtatgcaaa
     2641 catatcattg aaatattaca tagatataaa gacttaggga ataaaaatag cagcaacaaa
     2701 tacttgatag atttatccta cttgggagaa atattttgta gcagagtatt tagtatactt
     2761 agaagttgat ttagcaatta ggctttaatg accttacaaa gtgaacataa ctgaacacaa
     2821 gtattttttc aatgcaagat gaggatgaaa attttacatt tcaacccatc tggctaaagt
     2881 taagacttag caaaaattaa aatgttgcct ttgtccaagt atagattaag gcaacaaaca
     2941 tatttgggtg tgtaatttga agttttggac tgaaatatct ttgcaagtat ccacataaaa
     3001 ttctgtaatg ccttataatt atattctaat aattatgcat tatactaaga caccattaag
     3061 aacagttgag gcactacact aaatcaaacc ataaatgagg aaaaaacttt taatgttctt
     3121 ttctagaagt gttcaaatag gtcttgatat gaagctaaaa gccttattta tattatctta
     3181 atatttcggc taaaatgtta agctccataa catgaattga tacaattcca attttatcaa
     3241 tattttgtga tagaaaaatg ttaatattat tcatgagcta tacagtcctt acattttttc
     3301 ccttggtgta ggaacaacgg aggagtttct cctctgctaa ctattcatat atgtaactgt
     3361 aacaaaagtg tactatgtta tgcacacatt acaaataata taaggggaag ttttattagc
     3421 ttagtaggaa attgttatta ttaaggttta aaaatgagaa caggtgtgag ttttccaaaa
     3481 tacttaaaaa taatagtgtc aaaaattcag gggcagttaa ggagtcatgg atggaactag
     3541 aggtcactat attaagtgac ataagccaga aacagacaaa cattgcatgt tctcaattat
     3601 ttgcgggatc taaaagtcaa aacaattgaa ctcatggata tagagagtag aaggatggtt
     3661 actagtggct gggaaaaggg gtgtgcgagg ggaactgggg atgcttaatg tgtacaaaaa
     3721 ctatgtagtt agaaagtata aataagacct agtatttgat agcacaaccg ggtgagtata
     3781 gtcaataata gcttaattgt acaaataact aagagtataa ttggattgtt tgtaacacaa
     3841 ataaatactt gagtggatgg ata
//
