LOCUS       NM_001385641            3465 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens sterile alpha motif domain containing 11 (SAMD11),
            transcript variant 1, mRNA.
ACCESSION   NM_001385641
VERSION     NM_001385641.1
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 3465)
  AUTHORS   Pan,Q., Meng,X., Li,J., Qin,X., Chen,H. and Li,Y.
  TITLE     CircSAMD11 facilitates progression of cervical cancer via
            regulating miR-503/SOX4 axis through Wnt/beta-catenin pathway
  JOURNAL   Clin Exp Pharmacol Physiol 49 (1), 175-187 (2022)
   PUBMED   34546569
  REMARK    GeneRIF: CircSAMD11 facilitates progression of cervical cancer via
            regulating miR-503/SOX4 axis through Wnt/beta-catenin pathway.
REFERENCE   2  (bases 1 to 3465)
  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 3465)
  AUTHORS   Corton,M., Avila-Fernandez,A., Campello,L., Sanchez,M.,
            Benavides,B., Lopez-Molina,M.I., Fernandez-Sanchez,L.,
            Sanchez-Alcudia,R., da Silva,L.R.J., Reyes,N., Martin-Garrido,E.,
            Zurita,O., Fernandez-San Jose,P., Perez-Carro,R., Garcia-Garcia,F.,
            Dopazo,J., Garcia-Sandoval,B., Cuenca,N. and Ayuso,C.
  TITLE     Identification of the Photoreceptor Transcriptional Co-Repressor
            SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa
  JOURNAL   Sci Rep 6, 35370 (2016)
   PUBMED   27734943
  REMARK    GeneRIF: analysis of a homozygous nonsense mutation in SAMD11 in
            five individuals diagnosed with adult-onset retinitis pigmentosa;
            SAMD11 interacts with CRX and is expressed in retina
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3465)
  AUTHORS   Chapman,N.H., Nato,A.Q. Jr., Bernier,R., Ankenman,K., Sohi,H.,
            Munson,J., Patowary,A., Archer,M., Blue,E.M., Webb,S.J., Coon,H.,
            Raskind,W.H., Brkanac,Z. and Wijsman,E.M.
  TITLE     Whole exome sequencing in extended families with autism spectrum
            disorder implicates four candidate genes
  JOURNAL   Hum Genet 134 (10), 1055-1068 (2015)
   PUBMED   26204995
  REMARK    GeneRIF: SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be
            associated with autism spectrum disorder.
REFERENCE   5  (bases 1 to 3465)
  AUTHORS   Jin,G., Long,C., Liu,W., Tang,Y., Zhu,Y., Zhou,X., Ai,Y., Zhang,Q.
            and Shen,H.
  TITLE     Identification and characterization of novel alternative splice
            variants of human SAMD11
  JOURNAL   Gene 530 (2), 215-221 (2013)
   PUBMED   23978614
  REMARK    GeneRIF: SAMD11 was found to be widely expressed in many cell lines
            and ocular tissues and its transcription was not regulated by CRX,
            OTX2 or NR2E3 proteins.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL645608.30.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR4352442.449791.1,
                                           ERR4352444.332593.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000616016.5/ ENSP00000478421.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1026              AL645608.30        47773-48798
            1027-1118           AL645608.30        49772-49863
            1119-1300           AL645608.30        54005-54186
            1301-1351           AL645608.30        54889-54939
            1352-1476           AL645608.30        59622-59746
            1477-1566           AL645608.30        62890-62979
            1567-1704           AL645608.30        63125-63262
            1705-1867           AL645608.30        64994-65156
            1868-1983           AL645608.30        65986-66101
            1984-2062           AL645608.30        66260-66338
            2063-2562           AL645608.30        66409-66908
            2563-2687           AL645608.30        67103-67227
            2688-2798           AL645608.30        67548-67658
            2799-3465           AL645608.30        67758-68424
FEATURES             Location/Qualifiers
     source          1..3465
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..3465
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /note="sterile alpha motif domain containing 11"
                     /db_xref="GeneID:148398"
                     /db_xref="HGNC:HGNC:28706"
                     /db_xref="MIM:616765"
     exon            1..1026
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             510..3044
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sterile alpha motif domain-containing protein 11; SAM
                     domain-containing protein 11"
                     /codon_start=1
                     /product="sterile alpha motif domain-containing protein 11
                     isoform 1"
                     /protein_id="NP_001372570.1"
                     /db_xref="CCDS:CCDS90834.1"
                     /db_xref="GeneID:148398"
                     /db_xref="HGNC:HGNC:28706"
                     /db_xref="MIM:616765"
                     /translation="MPAVKKEFPGREDLALALATFHPTLAALPLPPLPGYLAPLPAAA
                     ALPPAASLPASAAGYEALLAPPLRPPRAYLSLHEAAPHLHLPRDPLALERFSATAAAA
                     PDFQPLLDNGEPCIEVECGANRALLYVRKLCQGSKGPSIRHRGEWLTPNEFQFVSGRE
                     TAKDWKRSIRHKGKSLKTLMSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPA
                     ARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFR
                     EASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSP
                     RISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYH
                     LGLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSF
                     SERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQ
                     ELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHG
                     AAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGS
                     EDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYF
                     HTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPL
                     LTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTG
                     EQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC"
     exon            1027..1118
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1300
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1351
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1476
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1566
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1704
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1867
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1868..1983
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2062
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..2562
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            2563..2687
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            2688..2798
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     exon            2799..3465
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3455..3460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /note="hexamer: AATAAA"
     polyA_site      3465
                     /gene="SAMD11"
                     /gene_synonym="MRS"
                     /note="major polyA site"
ORIGIN      
        1 ggcggcggag tctcccaagt ccccgccggg cgggcgcgcg ccagtggacg cgggtgcacg
       61 actgacgcgg cccgggcggc ggggcggggg cttgggaccc ccgagagggg cggggactcc
      121 gcgactcctc gctgccgggc tcggcctggc gggtgggtcg gcgagccggg cgtgggactg
      181 ccccgggcgc gggcgctggt ggccggggcg cgggactcca gacgccccgg ggagccccga
      241 ggccctggaa ctgcggcgct cggcgagtcg atccgggatc gatagcagct ccatgtctcc
      301 ggcctctgag gccccgccgg ccggctgggc agtccgggga ggcctggcgg gcggcgcgta
      361 ggcggcggct gcgggcgccg gggcgcacta gcggacggcg tgggcgcgcg gccaggcgcc
      421 tccccggccc ccgcgaccca actccagccc gggccggaat aagttgctgc cgccggcgga
      481 gagcggggct gcggagccac cggggcgcca tgccggcggt caagaaggag ttcccgggcc
      541 gcgaggacct ggccctggct ctggccacgt tccacccgac cctggccgcg ctgccgctgc
      601 cgccgctgcc aggctacctg gcgccactgc ccgcggcggc cgccctcccc ccggccgcct
      661 cgctgcccgc ctcggccgcc ggttacgagg ctctgctggc cccgccgctc cgccccccgc
      721 gcgcctacct cagcctgcac gaggccgccc cgcacctcca cctgcccagg gacccgctgg
      781 ccctcgagcg cttctcggcc accgcggccg cggccccgga tttccagccg ctgctggaca
      841 acggcgagcc gtgcatcgag gtggagtgcg gcgccaaccg cgcgctgctc tacgtgcgca
      901 aactctgcca gggcagcaag ggcccgtcca tccgccaccg cggcgagtgg ctcacgccca
      961 acgagttcca gttcgtcagc ggccgcgaga cggccaagga ctggaagcgc agcatccgcc
     1021 acaaagggaa aagtctgaag acgcttatgt ccaaggggat cctgcaggtg catcctccga
     1081 tctgcgactg cccgggctgc cgaatatcct ccccggtgaa ccgggggcgg ctggcagaca
     1141 agaggacagt cgccctgcct gccgcccgga acctgaagaa ggagcgaact cccagcttct
     1201 ctgccagcga tggtgacagc gacgggagtg gccccacctg tgggcggcgg ccaggcttga
     1261 agcaggagga tggtccgcac atccgtatca tgaagagaag agtccacacc cactgggacg
     1321 tgaacatctc tttccgagag gcgtcctgca gccaggacgg caaccttccc accctcatat
     1381 ccagcgtcca ccgcagccgc cacctcgtta tgcccgagca tcagagccgc tgtgaattcc
     1441 agagaggcag cctggagatt ggcctgcgac ccgccggtga cctgttgggc aagaggctgg
     1501 gccgctcccc ccgtatcagc agcgactgct tttcagagaa gagggcacga agcgaatcgc
     1561 ctcaagaggc gctgctgctg ccgcgggagc tggggcccag catggccccg gaggaccatt
     1621 accgccggct tgtgtcagca ctgagcgagg ccagcacctt tgaggaccct cagcgcctct
     1681 accacctggg cctccccagc cacgatctcc tgagggtccg gcaggaggtg gcggctgcag
     1741 ctctgagggg ccccagtggc ctggaagccc acctgccctc ctccacggca ggtcagcgtc
     1801 ggaagcaggg cctggctcag caccgggagg gcgccgcccc agctgccgcc ccgtccttct
     1861 cggagaggga gctgcctcag ccgcccccct tgctgtcgcc gcagaatgcc cctcacgtcg
     1921 ccctgggccc ccatctcagg ccccccttcc tgggggtgcc ctcggctctg tgccagaccc
     1981 caggctacgg cttcctgccc cccgcgcagg cggagatgtt cgcctggcag caggagctcc
     2041 tgcggaagca gaacctggcc cggctggagc tgcccgccga cctcctgcgg cagaaggagc
     2101 tggagagcgc gcgcccacag ctgctggcgc ccgagaccgc cctgcgcccc aacgacggcg
     2161 ccgaggagct gcagcggcgc ggggccctgc tggtgctgaa ccacggcgcg gcgccactgc
     2221 tggccctgcc cccccagggg cccccgggct ccggaccccc caccccgtcc cgggactctg
     2281 cccggcgagc cccccggaag gggggtcccg gccctgcctc agcgcggccc agcgagtcca
     2341 aggagatgac gggggctagg ctctgggcac aagatggctc ggaagacgag ccccccaaag
     2401 actcggacgg agaggacccc gagacggcag ctgttgggtg cagggggccc actccgggcc
     2461 aagctccagc tggaggggcc ggcgccgagg ggaaggggct tttcccaggg tccacactgc
     2521 ccctgggctt cccttatgcc gtcagcccct acttccacac aggcgcggta gggggactct
     2581 ccatggatgg ggaggaggcc ccagcccctg aggacgtcac caagtggacc gtggatgacg
     2641 tctgcagctt cgtggggggc ctgtctggct gtggagagta cactcgggtc ttcagggagc
     2701 aggggatcga cggggagacc ctgccactgc tgacggagga gcacctgctg accaacatgg
     2761 ggctgaagct ggggcccgcc ctcaagatcc gggcccaggt ggccaggcgc ctgggccgag
     2821 ttttctacgt ggccagcttc cccgtggctc tgccactgca gccaccaacc ctgcgggccc
     2881 cggagcgaga actcggcaca ggagagcagc ccttgtcccc cacgacggcc acgtccccct
     2941 atggaggggg ccacgccctt gccggtcaaa cttcacccaa gcaggagaat gggaccttgg
     3001 ctctacttcc aggggccccc gacccttccc agcctctgtg ttgaggttgc cgggggtagg
     3061 ggtggggcca cacaaatctc caggagccac cactcaacac aatggccctg cctcccaccg
     3121 ctttatttct ttcggtttcg gatgcaaaac aaaaaatttt aaaagaaaat gtgacttcaa
     3181 aggaaaggaa caaattttca aagacttggg ggagtgaagg cagagcctgg tgcagatgga
     3241 cgaggtctgc agacggaggg cagaggtggt ggaaggggcc aggggcctgc aggcctcccc
     3301 ctggaactgg gactggtctc ggtctgctga cgtcagggtc agctcccccg cggagctgac
     3361 ttcagcagcc cacagctgtg gggcttcagc agccacacca gcccagccca gcccagctct
     3421 cgatacgttt ggtctttcat gctgaaaaat aaataataaa gcctg
//
