LOCUS       NM_006873               5529 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens stonin 1 (STON1), transcript variant 2, mRNA.
ACCESSION   NM_006873
VERSION     NM_006873.4
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 5529)
  AUTHORS   Zheng,A., Bai,J., Ha,Y., Yu,Y., Fan,Y., Liang,M., Lu,Y., Shen,Z.,
            Luo,B. and Jie,W.
  TITLE     Integrated analysis of the relation to tumor immune
            microenvironment and predicted value of Stonin1 gene for immune
            checkpoint blockage and targeted treatment in kidney renal clear
            cell carcinoma
  JOURNAL   BMC Cancer 23 (1), 135 (2023)
   PUBMED   36759775
  REMARK    GeneRIF: Integrated analysis of the relation to tumor immune
            microenvironment and predicted value of Stonin1 gene for immune
            checkpoint blockage and targeted treatment in kidney renal clear
            cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5529)
  AUTHORS   Cao,C.H., Wei,Y., Liu,R., Lin,X.R., Luo,J.Q., Zhang,Q.J., Lin,S.R.,
            Geng,L., Ye,S.K., Shi,Y. and Xia,X.
  TITLE     Three-Dimensional Genome Interactions Identify Potential Adipocyte
            Metabolism-Associated Gene STON1 and Immune-Correlated Gene FSHR at
            the rs13405728 Locus in Polycystic Ovary Syndrome
  JOURNAL   Front Endocrinol (Lausanne) 12, 686054 (2021)
   PUBMED   34248847
  REMARK    GeneRIF: Three-Dimensional Genome Interactions Identify Potential
            Adipocyte Metabolism-Associated Gene STON1 and Immune-Correlated
            Gene FSHR at the rs13405728 Locus in Polycystic Ovary Syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5529)
  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   4  (bases 1 to 5529)
  AUTHORS   Maritzen,T., Podufall,J. and Haucke,V.
  TITLE     Stonins--specialized adaptors for synaptic vesicle recycling and
            beyond?
  JOURNAL   Traffic 11 (1), 8-15 (2010)
   PUBMED   19732400
  REMARK    Review article
REFERENCE   5  (bases 1 to 5529)
  AUTHORS   Estes,P.S., Jackson,T.C., Stimson,D.T., Sanyal,S., Kelly,L.E. and
            Ramaswami,M.
  TITLE     Functional dissection of a eukaryotic dicistronic gene: transgenic
            stonedB, but not stonedA, restores normal synaptic properties to
            Drosophila stoned mutants
  JOURNAL   Genetics 165 (1), 185-196 (2003)
   PUBMED   14504226
  REMARK    GeneRIF: Functional analysis of an homologous Drosophila gene.
REFERENCE   6  (bases 1 to 5529)
  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 5529)
  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 5529)
  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   9  (bases 1 to 5529)
  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, AK314464.1,
            AF255310.1 and BM974074.1.
            
            On Feb 27, 2020 this sequence version replaced NM_006873.3.
            
            Summary: Endocytosis of cell surface proteins is mediated by a
            complex molecular machinery that assembles on the inner surface of
            the plasma membrane. This gene encodes one of two human homologs of
            the Drosophila melanogaster stoned B protein. This protein is
            related to components of the endocytic machinery and exhibits a
            modular structure consisting of an N-terminal proline-rich domain,
            a central region of homology specific to the human stoned B-like
            proteins, and a C-terminal region homologous to the mu subunits of
            adaptor protein (AP) complexes. Read-through transcription of this
            gene into the neighboring downstream gene, which encodes
            TFIIA-alpha/beta-like factor, generates a transcript (SALF), which
            encodes a fusion protein comprised of sequence sharing identity
            with each individual gene product. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Oct 2010].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR, compared to variant 1. Both variants 1 and 2 encode the
            same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK314464.1, SRR11853566.15156.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000404752.6/ ENSP00000385273.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC073082.6         174330-174344       c
            16-320              AK314464.1         1-305
            321-2257            AF255310.1         221-2157
            2258-2318           AK314464.1         2243-2303
            2319-5527           AC073082.6         105987-109195       c
            5528-5529           BM974074.1         21-22               c
FEATURES             Location/Qualifiers
     source          1..5529
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..5529
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /note="stonin 1"
                     /db_xref="GeneID:11037"
                     /db_xref="HGNC:HGNC:17003"
                     /db_xref="MIM:605357"
     exon            1..63
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /inference="alignment:Splign:2.1.0"
     exon            64..2040
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..2318
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /note="stoned B homolog 1; stoned-b1; stoned B-like
                     factor"
                     /codon_start=1
                     /product="stonin-1"
                     /protein_id="NP_006864.2"
                     /db_xref="CCDS:CCDS1841.1"
                     /db_xref="GeneID:11037"
                     /db_xref="HGNC:HGNC:17003"
                     /db_xref="MIM:605357"
                     /translation="MCSTNPGKWVTFDDDPAVQSSQKSKNFPLENQGVCRPNGLKLNL
                     PGLREFPSGSSSTSSTPLSSPIVDFYFSPGPPSNSPLSTPTKDFPGFPGIPKAGTHVL
                     YPIPESSSDSPLAISGGESSLLPTRPTCLSHALLPSDHSCTHPTPKVGLPDEVNPQQA
                     ESLGFQSDDLPQFQYFREDCAFSSPFWKDEGSDSHFTLDPPGSKKMFSSRNKEMPIDQ
                     KSLNKCSLNYICEKLEHLQSAENQDSLRSLSMHCLCAEENASSFVPHTLFRSQPKSGW
                     SFMLRIPEKKNMMSSRQWGPIFLKVLPGGILQMYYEQGLEKPFKEIQLDPYCRLSEPK
                     VENFSVAGKIHTVKIEHVSYTEKRKYHSKTEVVHEPDIEQMLKLGSTSYHDFLDFLTT
                     VEEELMKLPAVSKPKKNYEEQEISLEIVDNFWGKVTKEGKFVESAVITQIYCLCFVNG
                     NLECFLTLNDLELPKRDESYYEKDSEKKGIDILDYHFHKCVNVQEFEQSRIIKFVPLD
                     ACRFELMRFKTLYNGDNLPFSLKSVVVVQGAYVELQAFVNMASLAQRSSYAGSLRSCD
                     NIRIHFPVPSQWIKALWTMNLQRQKSLKAKMNRRACLGSLQELESEPVIQVTVGSAKY
                     ESAYQAVVWKIDRLPDKNSSLDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCA
                     SRTEVRSLGVESDVQPQKHVQQRACYNIQVEIEKKWIKIDGEDPDKIGDCITQ"
     exon            2041..2243
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2244..5529
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5508..5513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /note="hexamer: ATTAAA"
     polyA_site      5529
                     /gene="STON1"
                     /gene_synonym="SALF; SBLF; STN1; STNB1"
                     /note="major polyA site"
ORIGIN      
        1 ctcttcctcc gcctcctggt gtggctggct gcggccagaa tcggagcccc aaccgcgctg
       61 ccgagtcaac ctatttgatt tcttgacaag accacaatct gatcccaaag atgtgctcca
      121 caaatccagg caaatgggtc acctttgatg atgatcctgc tgttcaatct tctcaaaagt
      181 caaagaattt tcctctggag aatcaaggtg tctgtagacc aaatggactg aagctgaacc
      241 ttcctggcct cagggaattt cccagtggat cttcctccac cagcagcact cctctctcct
      301 cccccattgt agatttttat ttcagtccag gacctccaag taactctcct ctttctacac
      361 ctaccaaaga cttcccaggt tttcctggca tccccaaagc agggactcat gtgctttatc
      421 ctattccaga atcatcttca gacagcccac tcgcaatatc aggaggagaa tcttccttac
      481 tgcctaccag accaacatgt ttatcccatg ccttgttacc cagtgaccac tcatgtacac
      541 atccaactcc caaagtaggt cttccagatg aagttaatcc tcaacaggct gaaagcctag
      601 gattccaaag tgatgatctc ccccagtttc agtattttcg agaggactgt gctttttcaa
      661 gtccattttg gaaagatgaa ggcagtgatt cccatttcac ccttgaccca ccaggaagca
      721 aaaagatgtt ctcatcaaga aacaaggaga tgcctattga ccaaaaaagc ctaaataagt
      781 gttcactcaa ctatatctgt gagaagcttg aacatctcca gtcagctgag aaccaagact
      841 cacttagaag tttgtctatg cactgtctat gtgctgaaga aaatgcctct tcctttgtcc
      901 cccacacact cttcaggagt cagccaaaat ccggatggtc tttcatgctg agaattcctg
      961 agaagaagaa tatgatgtct tcccggcaat ggggaccaat ttttctgaaa gttttgcctg
     1021 gaggaatttt gcagatgtat tatgaacagg gattagaaaa accatttaaa gagatacagc
     1081 ttgatccata ttgtaggctt tctgaaccca aggttgagaa cttcagtgta gcaggaaaaa
     1141 tccacactgt gaagattgaa catgtgtctt acacagaaaa aaggaaatac cattctaaga
     1201 cagaagtagt tcatgaacct gacatagagc agatgctgaa gttggggtcc acatcgtacc
     1261 atgacttcct tgactttctg actactgtgg aggaggagct gatgaagttg ccagctgttt
     1321 caaaaccaaa aaagaactac gaggagcaag aaatttcctt ggaaattgtg gacaactttt
     1381 ggggtaaagt cacaaaagaa ggaaaatttg ttgaaagtgc tgtgataact caaatttatt
     1441 gcctctgctt tgtgaatggg aacctggaat gctttttaac cttgaatgac cttgagttgc
     1501 cgaagcgaga tgaatcctat tatgagaagg actcagaaaa aaaggggatt gatattcttg
     1561 actaccattt tcataagtgt gtgaatgtac aagaatttga gcaatcaaga atcattaagt
     1621 ttgtacctct ggatgcctgc cggtttgagc tgatgcgttt caagactttg tataatgggg
     1681 ataatcttcc cttttccttg aagtctgtag tggttgtcca gggagcatac gtggaacttc
     1741 aggcttttgt caacatggcc tcattggcgc agaggtcatc ctatgctggt tccttaaggt
     1801 cctgtgacaa tataaggata cactttcctg tcccatcgca gtggatcaag gccctttgga
     1861 ccatgaacct ccagaggcag aagtctctga aagctaaaat gaaccgccga gcatgtctgg
     1921 ggagtttaca ggaacttgaa tctgaacctg tcattcaagt cactgtgggg tcagcaaaat
     1981 atgagagtgc ctaccaggca gtggtatgga agatagatcg gcttccagac aaaaattcaa
     2041 gtctagatca tccccattgt ctgtcataca aattagagct tggatcagac caagaaattc
     2101 cctctgattg gtatccattt gctactgttc agttttccgt gcctgacacc tgtgcctcaa
     2161 ggacagaggt caggtctctg ggagtggaga gtgatgtcca gccacagaaa catgttcagc
     2221 agcgagcttg ctacaacatc caggttgaaa tagaaaagaa gtggattaaa atcgatggag
     2281 aagacccaga taaaattggt gactgcataa ctcagtagga gtagcaagag tttatgatga
     2341 cagcccactt gtcaaatatg taattcaccg aaaccacacc aagtcctgct actgtagagt
     2401 ggaaatgact tctgaatagc ggttttagga caggtctgat ggctgtgttt agagaagttt
     2461 agacctaaaa ccgaacaatc tgtatttttt gcttttcatg tgtttttgtc ctaggggttc
     2521 gatctaaaat gtttctataa ttcgtgtgat gttttgcttc ctattgaaac tcaaaggcac
     2581 tgttactcgt tgtgtgaccc cgcagccagt atgatttttg attactcagt ggctgactgt
     2641 tttgctctct ggattactga ggtgccgtct tcatttcttc ccatctcttc ttgctgctta
     2701 gtgtctgtac tagagggtaa gggaatcaaa ggagacataa accaaaatag ttaattttcc
     2761 ctctttcttg cctctgaaat gtggctaggt gtagaatgat gttgaaacca caggctaaaa
     2821 tgtagatctg gaagtatctg tgcttttgaa ttacttattt acctgtcctc ttaccgttgg
     2881 taaataataa ttggctatat ttggtacctg tctctctcct actgtattgt cattttcaaa
     2941 atgtgtttgt tttctggcgc gtgctgcaaa gaagctattt ctgttgtcct acatatttta
     3001 gtataaatca ctaagacata tttcctttca cttggcagga ttcctttcaa aatggaatct
     3061 gagtattaga cactagttaa catatttgtg tatattaaat atgaattttt aaaatttata
     3121 aatactattt tccaaaagta cagactctaa ggacatattt tgataaagta ttatttgtaa
     3181 tgaacacaag cctctcttga gtagaagtct aaatcacatt atgattattt tatactagtt
     3241 ctgctatcat gctgttttat gctaattctg cttattttag agtatttttc attaaaaggt
     3301 gagcaaagtg aaagatactt ggtattttac ccagatttct aagtggcaac atttttattc
     3361 ttcagagtca ggtaaatgac tataatagtt tggtttctaa tgaaaagtca atagcattag
     3421 cagttataat tctgtttata atttcctttc agcatttaca gtgaaaagtg agaattttaa
     3481 aatttatgaa atctatattc caggtattgt ttttagtctg aaaaacaaac tcccccatgt
     3541 ggtattaata taccttcaat ttatgttgag tcttaaacat aattaggaga tatttttctc
     3601 tatttgctag atttgttttg agtcaaaact gatttagtgt tcttccaaac aacatttatg
     3661 tgttggccta cagagtttat ttcatgtgtt ttttttaata tttaatatta tattacattc
     3721 attgaaatct gttcaaaaac agattaagac aaacatttat gatggtctgt atcaatcagc
     3781 agattttatt gcttttcatt attttactgt aaaggcaaag aatgcaatag gtgatggttg
     3841 gttgaaagga attgttattg ctgtttttat tttttacttt ttttgagaca gagtctcact
     3901 ctgttgccca gcctggagtg cagtgtgtca tcttggctca ctgcaacctc cgcctcctgg
     3961 gttcaaggga ttctcctgcc tcagcctcca actagctggg attacaggca caagccacca
     4021 tgcctggcta aaattctttt gtatttttac tacagacgga gtttccccat gttggccggg
     4081 ctagtctcga actcctgacc tcaggtgatc caccagcctc ggcctcccaa agttctggga
     4141 ttaaatgcgt gagccaccat gcccggccgc tattgctctt tttaacttca tttgatgcct
     4201 tgcttataat atcatatgct tgaggctcac tgttgatgta gagtagggca aatctgtgtg
     4261 tgtatgtcat taaaaaaatt ctaccatctt tctttatcat ctggtgtggg cgcactctac
     4321 agtgacttca gtctgctcag aacgaatgtg gaggccggcc gaaactgatg ctgcccacag
     4381 tcccagtgaa gttaggtggg ttaattactg ccattccttt ctaagtgtgt tttatggcat
     4441 cctgcccaca aagaactcac agtctgatta ggatgaactt aatgactatt tacacctcaa
     4501 aatatattca gcaaagggtt cacttagttg cccctcatgc ttcacaggtt gactagtatc
     4561 tgtgggtacc tccctgccca ggttattcac tcacaagcca ccgggccttc aggacatctc
     4621 aagattcagt cttgacaata taatagcaaa agctggacta aagcccaaat ggattgtctg
     4681 tggcaatgca gaagctgata gcattaacag cagggtgtta cagcataatt gttaattcgc
     4741 acatctatta ggatccttaa atattcatta cttaatgtta aattaacatt ctgtgtaggg
     4801 aggggaggct tattcaattc ttctgacctc agaactggca gaaggtcaga tgtgactaca
     4861 gaactctagg tgaaaaatca ggtagggttc aaattaagta gaactgccct tgccggaata
     4921 gtgatcttca aaaaaccctt gcttttaggg gagggaagcg gggaaggaaa ggaatgaggg
     4981 aggaaatatt cctttctagc attcattttg cttagatcac tccattgtga gtttgaccat
     5041 tttggagtca aatgagcaga cttccaagga gttgaccagt ttgtgactag tctggtcacc
     5101 tttccagtta caggatcata ttaactgtgt aaatgaattc atgggtagat gatttgtgca
     5161 gatctgaatt taagaacatt tcctttttct gtgggaatca caagagttta tccactaaaa
     5221 aaagatatgt aaaaaagata ctttccagca cataaataaa ggctggaatt ttacaacctg
     5281 atgtatatat tagacagttc taggatgtta gttcccttca ttccagagct atgcttgtga
     5341 tacagcccct tttcttataa agtcagttag aaggacttcc ttaacaatga ctattataat
     5401 gtcttactta aaatacagtt ttgtattctg tcaatgcaaa tataagacag gttgagcctt
     5461 aatcatgtaa caaaatattt tgtagattac atattgattt ttcaaaaatt aaaaatgtat
     5521 ttcaaacta
//
