LOCUS       NM_172311               4067 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript
            variant 1, mRNA.
ACCESSION   NM_172311
VERSION     NM_172311.3
KEYWORDS    RefSeq.
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 4067)
  AUTHORS   Kawashima-Kumagai,K., Yamashiro,K., Yoshikawa,M., Miyake,M.,
            Ming,G.C.C., Fan,Q., Koh,J.Y., Saito,M., Sugahara-Kuroda,M.,
            Oishi,M., Akagi-Kurashige,Y., Nakata,I., Nakanishi,H., Gotoh,N.,
            Oishi,A., Tamura,H., Ooto,S., Tsujikawa,A., Kurimoto,Y.,
            Sekiryu,T., Matsuda,F., Khor,C.C., Cheng,C.Y., Wong,T.Y. and
            Yoshimura,N.
  TITLE     A genome-wide association study identified a novel genetic loci
            STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular
            age-related macular degeneration
  JOURNAL   Sci Rep 7 (1), 7173 (2017)
   PUBMED   28775256
  REMARK    GeneRIF: GWAS for neovascular age-related macular degeneration
            bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4067)
  AUTHORS   Xie,T., Deng,L., Mei,P., Zhou,Y., Wang,B., Zhang,J., Lin,J.,
            Wei,Y., Zhang,X. and Xu,R.
  TITLE     Genome-wide association study combining pathway analysis for
            typical sporadic amyotrophic lateral sclerosis in Chinese Han
            populations
  JOURNAL   Neurobiol Aging 35 (7), 1778 (2014)
   PUBMED   24529757
REFERENCE   3  (bases 1 to 4067)
  AUTHORS   Shi,Y., Zhao,H., Shi,Y., Cao,Y., Yang,D., Li,Z., Zhang,B.,
            Liang,X., Li,T., Chen,J., Shen,J., Zhao,J., You,L., Gao,X., Zhu,D.,
            Zhao,X., Yan,Y., Qin,Y., Li,W., Yan,J., Wang,Q., Zhao,J., Geng,L.,
            Ma,J., Zhao,Y., He,G., Zhang,A., Zou,S., Yang,A., Liu,J., Li,W.,
            Li,B., Wan,C., Qin,Y., Shi,J., Yang,J., Jiang,H., Xu,J.E., Qi,X.,
            Sun,Y., Zhang,Y., Hao,C., Ju,X., Zhao,D., Ren,C.E., Li,X.,
            Zhang,W., Zhang,Y., Zhang,J., Wu,D., Zhang,C., He,L. and Chen,Z.J.
  TITLE     Genome-wide association study identifies eight new risk loci for
            polycystic ovary syndrome
  JOURNAL   Nat Genet 44 (9), 1020-1025 (2012)
   PUBMED   22885925
REFERENCE   4  (bases 1 to 4067)
  AUTHORS   Chen,Z.J., Zhao,H., He,L., Shi,Y., Qin,Y., Shi,Y., Li,Z., You,L.,
            Zhao,J., Liu,J., Liang,X., Zhao,X., Zhao,J., Sun,Y., Zhang,B.,
            Jiang,H., Zhao,D., Bian,Y., Gao,X., Geng,L., Li,Y., Zhu,D., Sun,X.,
            Xu,J.E., Hao,C., Ren,C.E., Zhang,Y., Chen,S., Zhang,W., Yang,A.,
            Yan,J., Li,Y., Ma,J. and Zhao,Y.
  TITLE     Genome-wide association study identifies susceptibility loci for
            polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
  JOURNAL   Nat Genet 43 (1), 55-59 (2011)
   PUBMED   21151128
REFERENCE   5  (bases 1 to 4067)
  AUTHORS   Prakash,T., Sharma,V.K., Adati,N., Ozawa,R., Kumar,N., Nishida,Y.,
            Fujikake,T., Takeda,T. and Taylor,T.D.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4067)
  AUTHORS   Walther,K., Krauss,M., Diril,M.K., Lemke,S., Ricotta,D., Honing,S.,
            Kaiser,S. and Haucke,V.
  TITLE     Human stoned B interacts with AP-2 and synaptotagmin and
            facilitates clathrin-coated vesicle uncoating
  JOURNAL   EMBO Rep 2 (7), 634-640 (2001)
   PUBMED   11454741
  REMARK    Erratum:[EMBO Rep 2002 Feb;3(2):197]
REFERENCE   7  (bases 1 to 4067)
  AUTHORS   Martina,J.A., Bonangelino,C.J., Aguilar,R.C. and Bonifacino,J.S.
  TITLE     Stonin 2: an adaptor-like protein that interacts with components of
            the endocytic machinery
  JOURNAL   J Cell Biol 153 (5), 1111-1120 (2001)
   PUBMED   11381094
REFERENCE   8  (bases 1 to 4067)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   9  (bases 1 to 4067)
  AUTHORS   Han,S.Y., Zhou,L., Upadhyaya,A., Lee,S.H., Parker,K.L. and
            DeJong,J.
  TITLE     TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene
            whose expression is up-regulated with other general transcription
            factors during spermatogenesis in the mouse
  JOURNAL   Biol Reprod 64 (2), 507-517 (2001)
   PUBMED   11159353
REFERENCE   10 (bases 1 to 4067)
  AUTHORS   Upadhyaya,A.B., Lee,S.H. and DeJong,J.
  TITLE     Identification of a general transcription factor TFIIAalpha/beta
            homolog selectively expressed in testis
  JOURNAL   J Biol Chem 274 (25), 18040-18048 (1999)
   PUBMED   10364255
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073082.6, AF026169.1 and
            BC101774.1.
            
            On Jun 2, 2019 this sequence version replaced NM_172311.2.
            
            Summary: STON1-GTF2A1L mRNAs are infrequent but naturally occurring
            read-through products of the neighboring STON1 and GTF2A1L genes.
            These transcripts encode fusion proteins composed of the vast
            majority of each of the individual elements, stonin 1 and general
            transcription factor IIA, 1-like. Alternative splicing results in
            multiple transcript variants. The significance of these
            read-through variants and the function of the resulting protein
            products have not yet been determined. [provided by RefSeq, Oct
            2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF026169.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 11036, 11037
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-242               AC073082.6         135479-135720       c
            243-486             AF026169.1         1-244
            487-1177            BC101774.1         158-848
            1178-3242           AF026169.1         936-3000
            3243-3775           BC101774.1         2914-3446
            3776-3776           AC073082.6         32839-32839         c
            3777-3948           AF026169.1         3535-3706
            3949-3949           AC073082.6         25012-25012         c
            3950-4066           AF026169.1         3708-3824
            4067-4067           AC073082.6         24894-24894         c
FEATURES             Location/Qualifiers
     source          1..4067
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..4067
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /note="STON1-GTF2A1L readthrough"
                     /db_xref="GeneID:286749"
                     /db_xref="HGNC:HGNC:30651"
     exon            1..309
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            310..2286
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     CDS             357..3905
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /note="isoform 1 is encoded by transcript variant 1;
                     stoned B/TFIIA-alpha/beta-like factor; TFIIA-alpha and
                     beta-like factor; General transcription factor II A,
                     1-like factor"
                     /codon_start=1
                     /product="STON1-GTF2A1L protein isoform 1"
                     /protein_id="NP_758515.1"
                     /db_xref="GeneID:286749"
                     /db_xref="HGNC:HGNC:30651"
                     /translation="MCSTNPGKWVTFDDDPAVQSSQKSKNFPLENQGVCRPNGLKLNL
                     PGLREFPSGSSSTSSTPLSSPIVDFYFSPGPPSNSPLSTPTKDFPGFPGIPKAGTHVL
                     YPIPESSSDSPLAISGGESSLLPTRPTCLSHALLPSDHSCTHPTPKVGLPDEVNPQQA
                     ESLGFQSDDLPQFQYFREDCAFSSPFWKDEGSDSHFTLDPPGSKKMFSSRNKEMPIDQ
                     KSLNKCSLNYICEKLEHLQSAENQDSLRSLSMHCLCAEENASSFVPHTLFRSQPKSGW
                     SFMLRIPEKKNMMSSRQWGPIFLKVLPGGILQMYYEQGLEKPFKEIQLDPYCRLSEPK
                     VENFSVAGKIHTVKIEHVSYTEKRKYHSKTEVVHEPDIEQMLKLGSTSYHDFLDFLTT
                     VEEELMKLPAVSKPKKNYEEQEISLEIVDNFWGKVTKEGKFVESAVITQIYCLCFVNG
                     NLECFLTLNDLELPKRDESYYEKDSEKKGIDILDYHFHKCVNVQEFEQSRIIKFVPLD
                     ACRFELMRFKTLYNGDNLPFSLKSVVVVQGAYVELQAFVNMASLAQRSSYAGSLRSCD
                     NIRIHFPVPSQWIKALWTMNLQRQKSLKAKMNRRACLGSLQELESEPVIQVTVGSAKY
                     ESAYQAVVWKIDRLPDKNSSLDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCA
                     SRTEVRSLGVESDVQPQKHVQQRACYNIQPKLYRSVIEDVIEGVRNLFAEEGIEEQVL
                     KDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLP
                     SFTTAELGTSNSSANFTFPGYPIHVPAGVTLQTVSGHLYKVNVPIMVTETSGRAGILQ
                     HPIQQVFQQLGQPSVIQTSVPQLNPWSLQATTEKSQRIETVLQQPAILPSGPVDRKHL
                     ENATSDILVSPGNEHKIVPEALLCHQESSHYISLPGVVFSPQVSQTNSNVESVLSGSA
                     SMAQNLHDESLSTSPHGALHQHVTDIQLHILKNRMYGCDSVKQPRNIEEPSNIPVSEK
                     DSNSQVDLSIRVTDDDIGEIIQVDGSGDTSSNEEIGSTRDADENEFLGNIDGGDLKVP
                     EEEADSISNEDSATNSSDNEDPQVNIVEEDPLNSGDDVSEQDVPDLFDTDNVIVCQYD
                     KIHRSKNKWKFYLKDGVMCFGGRDYVFAKAIGDAEW"
     exon            2287..2489
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            2490..2591
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            2592..2715
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            2716..2771
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            2772..2856
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            2857..3446
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            3447..3707
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            3708..3797
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     exon            3798..4067
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4035..4040
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /note="hexamer: AATAAA"
     regulatory      4041..4046
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /note="hexamer: ATTATA"
     polyA_site      4057
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /note="major polyA site"
     polyA_site      4067
                     /gene="STON1-GTF2A1L"
                     /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF"
                     /note="major polyA site"
ORIGIN      
        1 agtctgcttt tcccacagcc tgatgtccaa ggggcagata cgtgtggtgg gcttgctgga
       61 gaaataggct cttctcacgt gagaacagca tccttccaat ctagagctcc tggctccagg
      121 aagtggtggt ggctctaccc tggtgctatt tcattagtga agggtggggt ggtggaaagt
      181 gcagaaaagg caggacccct gacaccagca aggcattgga tctctctgga cctccgggtg
      241 gtggactttg ggactggaca gacctggtca cagtctaggt tctacatctt actggtcgag
      301 caactttaga gtcaacctat ttgatttctt gacaagacca caatctgatc ccaaagatgt
      361 gctccacaaa tccaggcaaa tgggtcacct ttgatgatga tcctgctgtt caatcttctc
      421 aaaagtcaaa gaattttcct ctggagaatc aaggtgtctg tagaccaaat ggactgaagc
      481 tgaaccttcc tggcctcagg gaatttccca gtggatcttc ctccaccagc agcactcctc
      541 tctcctcccc cattgtagat ttttatttca gtccaggacc tccaagtaac tctcctcttt
      601 ctacacctac caaagacttc ccaggttttc ctggcatccc caaagcaggg actcatgtgc
      661 tttatcctat tccagaatca tcttcagaca gcccactcgc aatatcagga ggagaatctt
      721 ccttactgcc taccagacca acatgtttat cccatgcctt gttacccagt gaccactcat
      781 gtacacatcc aactcccaaa gtaggtcttc cagatgaagt taatcctcaa caggctgaaa
      841 gcctaggatt ccaaagtgat gatctccccc agtttcagta ttttcgagag gactgtgctt
      901 tttcaagtcc attttggaaa gatgaaggca gtgattccca tttcaccctt gacccaccag
      961 gaagcaaaaa gatgttctca tcaagaaaca aggagatgcc tattgaccaa aaaagcctaa
     1021 ataagtgttc actcaactat atctgtgaga agcttgaaca tctccagtca gctgagaacc
     1081 aagactcact tagaagtttg tctatgcact gtctatgtgc tgaagaaaat gcctcttcct
     1141 ttgtccccca cacactcttc aggagtcagc caaaatccgg atggtctttc atgctgagaa
     1201 ttcctgagaa gaagaatatg atgtcttccc ggcaatgggg accaattttt ctgaaagttt
     1261 tgcctggagg aattttgcag atgtattatg aacagggatt agaaaaacca tttaaagaga
     1321 tacagcttga tccatattgt aggctttctg aacccaaggt tgagaacttc agtgtagcag
     1381 gaaaaatcca cactgtgaag attgaacatg tgtcttacac agaaaaaagg aaataccatt
     1441 ctaagacaga agtagttcat gaacctgaca tagagcagat gctgaagttg gggtccacat
     1501 cgtaccatga cttccttgac tttctgacta ctgtggagga ggagctgatg aagttgccag
     1561 ctgtttcaaa accaaaaaag aactacgagg agcaagaaat ttccttggaa attgtggaca
     1621 acttttgggg taaagtcaca aaagaaggaa aatttgttga aagtgctgtg ataactcaaa
     1681 tttattgcct ctgctttgtg aatgggaacc tggaatgctt tttaaccttg aatgaccttg
     1741 agttgccgaa gcgagatgaa tcctattatg agaaggactc agaaaaaaag gggattgata
     1801 ttcttgacta ccattttcat aagtgtgtga atgtacaaga atttgagcaa tcaagaatca
     1861 ttaagtttgt acctctggat gcctgccggt ttgagctgat gcgtttcaag actttgtata
     1921 atggggataa tcttcccttt tccttgaagt ctgtagtggt tgtccaggga gcatacgtgg
     1981 aacttcaggc ttttgtcaac atggcctcat tggcgcagag gtcatcctat gctggttcct
     2041 taaggtcctg tgacaatata aggatacact ttcctgtccc atcgcagtgg atcaaggccc
     2101 tttggaccat gaacctccag aggcagaagt ctctgaaagc taaaatgaac cgccgagcat
     2161 gtctggggag tttacaggaa cttgaatctg aacctgtcat tcaagtcact gtggggtcag
     2221 caaaatatga gagtgcctac caggcagtgg tatggaagat agatcggctt ccagacaaaa
     2281 attcaagtct agatcatccc cattgtctgt catacaaatt agagcttgga tcagaccaag
     2341 aaattccctc tgattggtat ccatttgcta ctgttcagtt ttccgtgcct gacacctgtg
     2401 cctcaaggac agaggtcagg tctctgggag tggagagtga tgtccagcca cagaaacatg
     2461 ttcagcagcg agcttgctac aacatccagc ctaaactcta cagatctgta attgaagatg
     2521 taattgaagg agttcggaat ctatttgctg aagaaggtat agaggaacaa gttttaaaag
     2581 acttgaagca gctctgggaa accaaggttt tgcagtctaa agcaacagaa gacttcttca
     2641 gaaatagcat ccaatcacct ctgtttactc ttcagttgcc gcacagcttg caccaaacat
     2701 tgcaatcgtc aacagcatca ttagttattc ctgctggtag aactcttcca agttttacca
     2761 cagcagaact gggcacttca aactccagtg caaactttac ttttcctggt tatcccattc
     2821 atgtaccagc aggtgtgaca ctacagactg tatctggtca cctttataaa gtcaatgtac
     2881 caattatggt gacagagact tctggaagag caggtattct tcagcatcca attcagcaag
     2941 tatttcaaca gcttggccag ccttcagtaa tacaaactag tgttccacaa ttgaatccat
     3001 ggtctcttca agcaactact gaaaaatcac agagaattga aaccgtgcta cagcaacccg
     3061 caattctacc ttctgggcca gtagatagga aacacttaga aaatgccacc agtgatatac
     3121 ttgtatctcc tggaaatgag cataaaatcg tgcctgaagc tttgttgtgt catcaggaaa
     3181 gttctcacta tatcagtctt ccaggtgttg tattttctcc acaggtctct caaacaaatt
     3241 ctaatgtgga gtcagtgctc agtggttcag ctagcatggc tcaaaatctg catgatgagt
     3301 ccctctccac aagccctcat ggggctctcc accagcacgt gactgatatt cagcttcata
     3361 ttcttaaaaa taggatgtat ggatgtgatt ctgtaaagca accaagaaat atagaggaac
     3421 ccagcaacat acctgtatca gagaaggatt ctaattctca ggtggattta agcattcggg
     3481 ttactgatga tgatattggt gaaataattc aagtagatgg aagcggtgat acatcttcca
     3541 atgaagaaat aggaagtaca agagatgcag atgagaatga atttctaggg aatattgacg
     3601 ggggagatct gaaggtacct gaagaagaag ctgacagtat ttcaaatgag gattcagcca
     3661 caaacagtag tgataatgaa gaccctcaag taaacattgt agaagaggac cctttaaatt
     3721 ctggagatga tgttagtgaa caggatgtgc cagacctgtt tgacacggat aatgttattg
     3781 tctgtcagta tgataagatt catcgaagca agaacaaatg gaaattctat ttgaaagatg
     3841 gtgttatgtg ttttggaggg agagactatg tatttgcaaa agccattggt gatgcagagt
     3901 ggtaaacctt gtgagctcag tacatctatt ttgtgaacat cagttggatt atattgcata
     3961 ttgtgaattc atttttattt tgaatatagt ccagcacaga gctgttcaaa tttttagttc
     4021 actgtatgga atttaataaa attataattc agatgcagat acaatta
//
