LOCUS       NM_001142459            1793 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10),
            transcript variant 1, mRNA.
ACCESSION   NM_001142459
VERSION     NM_001142459.2
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 1793)
  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   2  (bases 1 to 1793)
  AUTHORS   Jung,S.H., Lee,Y.C., Lee,M.Y. and Shin,H.Y.
  TITLE     Lack of Correlation between ASB10 and Normal-tension Glaucoma in a
            Population from the Republic of Korea
  JOURNAL   Curr Eye Res 45 (4), 521-525 (2020)
   PUBMED   31522561
  REMARK    GeneRIF: Lack of Correlation between ASB10 and Normal-tension
            Glaucoma in a Population from the Republic of Korea.
REFERENCE   3  (bases 1 to 1793)
  AUTHORS   Micheal,S., Ayub,H., Islam,F., Siddiqui,S.N., Khan,W.A., Akhtar,F.,
            Qamar,R., Khan,M.I. and den Hollander,A.I.
  TITLE     Variants in the ASB10 Gene Are Associated with Primary Open Angle
            Glaucoma
  JOURNAL   PLoS One 10 (12), e0145005 (2015)
   PUBMED   26713451
  REMARK    GeneRIF: Variants in ASB10 were found to be significantly
            associated with sporadic POAG in the Pakistani population
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1793)
  AUTHORS   Keller,K.E., Yang,Y.F., Sun,Y.Y., Sykes,R., Acott,T.S. and
            Wirtz,M.K.
  TITLE     Ankyrin repeat and suppressor of cytokine signaling box containing
            protein-10 is associated with ubiquitin-mediated degradation
            pathways in trabecular meshwork cells
  JOURNAL   Mol Vis 19, 1639-1655 (2013)
   PUBMED   23901248
  REMARK    GeneRIF: ASB10 may play a role in ubiquitin-mediated degradation
            pathways in tabecular meshwork cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1793)
  AUTHORS   Fingert,J.H., Roos,B.R., Solivan-Timpe,F., Miller,K.A.,
            Oetting,T.A., Wang,K., Kwon,Y.H., Scheetz,T.E., Stone,E.M. and
            Alward,W.L.
  TITLE     Analysis of ASB10 variants in open angle glaucoma
  JOURNAL   Hum Mol Genet 21 (20), 4543-4548 (2012)
   PUBMED   22798626
  REMARK    GeneRIF: non-synonymous mutations in ASB10 do not cause Mendelian
            forms of primary open angle glaucoma
REFERENCE   6  (bases 1 to 1793)
  AUTHORS   Pasutto,F., Keller,K.E., Weisschuh,N., Sticht,H., Samples,J.R.,
            Yang,Y.F., Zenkel,M., Schlotzer-Schrehardt,U., Mardin,C.Y.,
            Frezzotti,P., Edmunds,B., Kramer,P.L., Gramer,E., Reis,A.,
            Acott,T.S. and Wirtz,M.K.
  TITLE     Variants in ASB10 are associated with open-angle glaucoma
  JOURNAL   Hum Mol Genet 21 (6), 1336-1349 (2012)
   PUBMED   22156576
  REMARK    GeneRIF: Variants in ASB10 are associated with open-angle glaucoma.
REFERENCE   7  (bases 1 to 1793)
  AUTHORS   Murakami,K., Meguro,A., Ota,M., Shiota,T., Nomura,N., Kashiwagi,K.,
            Mabuchi,F., Iijima,H., Kawase,K., Yamamoto,T., Nakamura,M.,
            Negi,A., Sagara,T., Nishida,T., Inatani,M., Tanihara,H., Aihara,M.,
            Araie,M., Fukuchi,T., Abe,H., Higashide,T., Sugiyama,K.,
            Kanamoto,T., Kiuchi,Y., Iwase,A., Ohno,S., Inoko,H. and Mizuki,N.
  TITLE     Analysis of microsatellite polymorphisms within the GLC1F locus in
            Japanese patients with normal tension glaucoma
  JOURNAL   Mol Vis 16, 462-466 (2010)
   PUBMED   20309402
  REMARK    GeneRIF: These findings suggested that the genes in the GLC1F locus
            may be associated with the pathogenesis of normal tension glaucoma.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1793)
  AUTHORS   Kohroki,J., Nishiyama,T., Nakamura,T. and Masuho,Y.
  TITLE     ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin
            ligase complexes
  JOURNAL   FEBS Lett 579 (30), 6796-6802 (2005)
   PUBMED   16325183
REFERENCE   9  (bases 1 to 1793)
  AUTHORS   Kile,B.T., Schulman,B.A., Alexander,W.S., Nicola,N.A., Martin,H.M.
            and Hilton,D.J.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF417920.1 and AK055536.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001142459.1.
            
            Summary: The protein encoded by this gene is a member of the
            ankyrin repeat and SOCS box-containing (ASB) family of proteins.
            The SOCS box serves to couple suppressor of cytokine signaling
            (SOCS) proteins and their binding partners with the elongin B and C
            complex, possibly targeting them for degradation. Multiple
            alternatively spliced transcript variants have been described for
            this gene. [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). The transcript
            contains an in-frame start site 45 codons upstream from the
            currently annotated site. The annotated downstream AUG is better
            conserved and has a strong Kozak signal.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK055536.1, BC126351.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151741, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000420175.3/ ENSP00000391137.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-71                AF417920.1         142-212
            72-150              AF417920.1         215-293
            151-1789            AK055536.1         2-1640
            1790-1793           AF417920.1         1819-1822
FEATURES             Location/Qualifiers
     source          1..1793
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..1793
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /note="ankyrin repeat and SOCS box containing 10"
                     /db_xref="GeneID:136371"
                     /db_xref="HGNC:HGNC:17185"
                     /db_xref="MIM:615054"
     exon            1..436
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..1524
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ankyrin repeat and SOCS box protein 10"
                     /codon_start=1
                     /product="ankyrin repeat and SOCS box protein 10 isoform
                     1"
                     /protein_id="NP_001135931.2"
                     /db_xref="CCDS:CCDS47750.2"
                     /db_xref="GeneID:136371"
                     /db_xref="HGNC:HGNC:17185"
                     /db_xref="MIM:615054"
                     /translation="MLMSWSPEECKGQGEPLDDRHPLCARLVEKPSRGSEEHLKSGPG
                     PIVTRTASGPALAFWQAVLAGDVGCVSRILADSSTGLAPDSVFDTSDPERWRDFRFNI
                     RALRLWSLTYEEELTTPLHVAASRGHTEVLRLLLRRRARPDSAPGGRTALHEACAAGH
                     TACVHVLLVAGADPNIADQDGKRPLHLCRGPGTLECAELLLRFGARVDGRSEEEEETP
                     LHVAARLGHVELADLLLRRGACPDARNAEGWTPLLAACDVRCQSITDAEATTARCLQL
                     CSLLLSAGADADAADQDKQRPLHLACRRGHAAVVELLLSCGVSANTMDYGGHTPLHCA
                     LQGPAAALAQSPEHVVRALLNHGAVRVWPGALPKVLERWSTCPRTIEVLMNTYSVVQL
                     PEEAVGLVTPETLQKHQRFYSSLFALVRQPRSLQHLSRCALRSHLEGSLPQALPRLPL
                     PPRLLRYLQLDFEGVLY"
     exon            437..704
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /inference="alignment:Splign:2.1.0"
     exon            705..1224
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1338
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1524
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /inference="alignment:Splign:2.1.0"
     exon            1525..1793
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1772..1777
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /note="hexamer: ATTAAA"
     polyA_site      1793
                     /gene="ASB10"
                     /gene_synonym="GLC1F"
                     /note="major polyA site"
ORIGIN      
        1 agcctcggag cgtgggacac aggggccttc tgtctgtctg tatttccctc ctgctctctc
       61 tctctctctc tgcctttggc atatacctct cctcctcccc actccccttt ccctgcccac
      121 atgctcatga gttggtctcc agaagagtgc aaggggcagg gagagcccct cgatgacaga
      181 caccccctct gtgccaggct ggtggagaag cccagcagag ggtctgagga gcacctcaag
      241 tctggcccgg gacccatcgt cacccgcaca gcctcaggac ctgcccttgc cttctggcag
      301 gcagtgctgg ctggggacgt gggctgtgtc tcccgcatcc tcgcggactc cagtactggc
      361 ctggctcctg attccgtctt tgataccagc gacccagagc gatggaggga tttccgcttc
      421 aacatccgtg ctctgagact ctggtctctg acatacgaag aggagctgac caccccactg
      481 catgtggcag ccagccgtgg ccacacggaa gtcctgcggc tgctgctgag gcggcgagca
      541 aggccagaca gtgcccctgg gggccgcacc gccctgcacg aggcctgtgc tgcaggccac
      601 actgcctgtg ttcatgtgct gctggtggca ggagccgacc ccaacatcgc tgaccaggat
      661 gggaaacgcc ccctgcatct ctgccggggg cctggcaccc ttgagtgtgc ggagctgctc
      721 ctcaggtttg gagcgagagt ggatggtcgg tccgaggaag aagaggagac ccctttgcat
      781 gtggccgccc ggcttggcca tgtggagctg gcagatctgc ttctaagacg gggggcatgt
      841 cctgatgccc gcaatgccga aggctggacc ccactgctgg ctgcctgtga cgtccgctgc
      901 cagtccatca ccgatgccga ggccaccacc gcccgctgcc tgcagctgtg cagcttgctg
      961 ctttcagctg gagcagacgc tgatgctgcg gaccaggaca agcagcgacc cctgcacctg
     1021 gcctgccgcc gtggccatgc agctgtcgtg gagctgctcc tgtcctgtgg tgtcagcgcc
     1081 aacaccatgg actatggggg acacacgccc ctgcactgtg ctctgcaggg cccagctgca
     1141 gccctggccc agagccccga gcacgtggtt cgggctctgc tcaaccatgg cgccgtccgt
     1201 gtctggccag gggccctccc caaggtgctg gagcgctgga gcacgtgccc tcggaccatc
     1261 gaggtcctga tgaacaccta cagtgttgtg cagcttcccg aggaggccgt cggcctggtg
     1321 actcctgaaa ctctgcagaa acatcagcgt ttctactcct ccctcttcgc cttggtgagg
     1381 cagcccaggt cgctgcagca tttgagccgc tgtgcgctcc gctcccacct ggagggcagc
     1441 ctgccccaag cgctgccccg cctccccctg ccaccgcgcc tgctccgcta cctgcagctg
     1501 gattttgagg gcgtgctcta ctagatgtcc atggcctttt gagagggcct gaaagcagat
     1561 gccccagcct gcagagggcg cgcctctgca ctaactcagg ccaggtagcc ctggcagcag
     1621 gaggcccagc tccgcaggca ggtgtggatg ctgcaattcc caatgcagag aagcggaccg
     1681 acagcggcag ccgggtgatg tctgatgaag acacactcct actggggctc tcctgaggcc
     1741 cccttctagc ctgtgcaaac cctgtatgtg cattaaaaat ctccaggtct gtg
//
