LOCUS       NM_001304366            2376 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens sterile alpha motif domain containing 7 (SAMD7),
            transcript variant 1, mRNA.
ACCESSION   NM_001304366 XM_005247422
VERSION     NM_001304366.2
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 2376)
  AUTHORS   Bauwens,M., Celik,E., Zur,D., Lin,S., Quinodoz,M., Michaelides,M.,
            Webster,A.R., Van Den Broeck,F., Leroy,B.P., Rizel,L., Moye,A.R.,
            Meunier,A., Tran,H.V., Moulin,A.P., Mahieu,Q., Van Heetvelde,M.,
            Arno,G., Rivolta,C., De Baere,E. and Ben-Yosef,T.
  TITLE     Mutations in SAMD7 cause autosomal-recessive macular dystrophy with
            or without cone dysfunction
  JOURNAL   Am J Hum Genet 111 (2), 393-402 (2024)
   PUBMED   38272031
  REMARK    GeneRIF: Mutations in SAMD7 cause autosomal-recessive macular
            dystrophy with or without cone dysfunction.
REFERENCE   2  (bases 1 to 2376)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2376)
  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   4  (bases 1 to 2376)
  AUTHORS   Van Schil,K., Karlstetter,M., Aslanidis,A., Dannhausen,K., Azam,M.,
            Qamar,R., Leroy,B.P., Depasse,F., Langmann,T. and De Baere,E.
  TITLE     Autosomal recessive retinitis pigmentosa with homozygous rhodopsin
            mutation E150K and non-coding cis-regulatory variants in
            CRX-binding regions of SAMD7
  JOURNAL   Sci Rep 6, 21307 (2016)
   PUBMED   26887858
  REMARK    GeneRIF: Autosomal recessive retinitis pigmentosa with homozygous
            rhodopsin mutation E150K and non-coding cis-regulatory variants in
            CRX-binding regions of SAMD7.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2376)
  AUTHORS   Hlawatsch,J., Karlstetter,M., Aslanidis,A., Luckoff,A., Walczak,Y.,
            Plank,M., Bock,J. and Langmann,T.
  TITLE     Sterile alpha motif containing 7 (samd7) is a novel crx-regulated
            transcriptional repressor in the retina
  JOURNAL   PLoS One 8 (4), e60633 (2013)
   PUBMED   23565263
  REMARK    GeneRIF: Data have identified a novel retinal SAM domain protein,
            Samd7, which could act as a transcriptional repressor involved in
            fine-tuning of Crx-regulated gene expression.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL711948.1, BX648534.1, AC008040.7 and BX648991.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001304366.1.
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the functional protein. Variants 1 and 2
            encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648991.1, BX648534.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335556.7/ ENSP00000334668.3
            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
            1-120               AL711948.1         2-121
            121-604             BX648534.1         2-485
            605-605             AC008040.7         178385-178385       c
            606-2295            BX648534.1         487-2176
            2296-2296           AC008040.7         164375-164375       c
            2297-2376           BX648991.1         2297-2376
FEATURES             Location/Qualifiers
     source          1..2376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.2"
     gene            1..2376
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /note="sterile alpha motif domain containing 7"
                     /db_xref="GeneID:344658"
                     /db_xref="HGNC:HGNC:25394"
                     /db_xref="MIM:620493"
     exon            1..250
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     exon            251..325
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     exon            326..452
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             367..1707
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /note="SAM domain-containing protein 7"
                     /codon_start=1
                     /product="sterile alpha motif domain-containing protein 7"
                     /protein_id="NP_001291295.1"
                     /db_xref="CCDS:CCDS3209.1"
                     /db_xref="GeneID:344658"
                     /db_xref="HGNC:HGNC:25394"
                     /db_xref="MIM:620493"
                     /translation="MAVNPLLTPTGQQTIPLIPSPFGPPTVDRDVLPSTVAPTDPRQF
                     CVPSQFGSSVLPNTNMANVLSSRIYPGWGILPPESIKAVARRNEMIQRHHTARTEMEM
                     YAIYQQRRMEKINPKGLAGLGIPFLYGSSVPAAPAAYHGRSMLPAGDLHFHRSTLRNL
                     QGNPMLAATAPHFEESWGQRCRRLRKNTGNQKALDSDAESSKSQAEEKILGQTHAVPY
                     EEDHYAKDPDIEAPSNQKSSETNEKPTTALANTCGELEPTHRKPWGSHTTTLKAKAWD
                     DGKEEASEQIFATCDEKNGVCPPVPRPSLPGTHALVTIGGNLSLDEDIQKWTVDDVHS
                     FIRSLPGCSDYAQVFKDHAIDGETLPLLTEEHLRGTMGLKLGPALKIQSQVSQHVGSM
                     FYKKTLSFPIRQAFDQPADTSPLLDPNSWSDTMNIFCPQDTIIPKGIERGSMRN"
     exon            453..577
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     exon            578..656
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     exon            657..1285
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..1407
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1518
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..2376
                     /gene="SAMD7"
                     /gene_synonym="MDCD"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gggcttaaca tcttttagcc tatctgtaga ggatatcaga gggcaaagtt tctgtcatga
       61 aataggacta atcaacttag ttgaatttgt atttaaagca aggttaaact gaattaagac
      121 catttttgaa agaattgtca gatgtacctt tcaacccgca gccagagaag cttctgcagt
      181 tgaaggccag aaagtctttg tatggttctt ccatctgcaa tatcaaagac aagaagtctt
      241 catagaggat ggcctccttt ggggattcca aagtaagaca atctcatctc cttttggtga
      301 ttcatctcca cggcttttcc taaagaactc cattagtggc gagagatatt gaagacaaac
      361 ccggtgatgg ctgtgaaccc tttattgaca ccaacagggc agcagacaat cccactgatc
      421 ccctcaccat ttgggcctcc aactgtggac agagatgtat tgccttccac cgtagctcca
      481 actgacccaa gacagttttg cgttccttcc caatttggat cctctgttct accaaacaca
      541 aatatggcaa atgtgttgtc cagtcggatc tacccaggtt ggggcatttt accacctgaa
      601 tccataaagg cagtggccag aaggaatgaa atgattcaac ggcatcatac tgccaggaca
      661 gaaatggaaa tgtatgctat ttaccagcaa aggagaatgg aaaaaattaa tcccaaggga
      721 ctagcaggcc tagggatacc cttcctctat ggctccagtg tcccagctgc ccccgctgcc
      781 taccatggca ggagcatgct ccctgccggt gacctgcatt ttcacagaag caccctcaga
      841 aaccttcagg gaaaccccat gctagcggca actgcaccac actttgagga gagctggggg
      901 cagagatgtc gtcgactcag gaaaaataca gggaatcaaa aagctctaga cagtgatgct
      961 gagagttcca aaagtcaagc agaagaaaaa atcctaggtc agactcatgc agttccctat
     1021 gaagaggatc attatgcaaa agacccagac attgaagcac ccagcaacca gaagtcaagt
     1081 gaaacgaatg aaaagccaac gacagctctt gccaacacct gtggagagct cgagcccacc
     1141 cataggaaac cctgggggtc tcacaccact accctgaaag caaaggcctg ggacgatggg
     1201 aaagaggagg cttcggagca gatttttgca acctgtgatg aaaagaatgg ggtttgccct
     1261 ccagttcctc gaccatctct gccaggaaca catgcactgg ttacaattgg ggggaatctt
     1321 tctttggatg aagatattca gaagtggacc gtggatgatg tgcacagctt cattcgcagc
     1381 cttccaggtt gttcagacta tgctcaggta tttaaagatc atgcaattga tggagaaact
     1441 ttgccattac tcacagaaga gcatcttcga ggcactatgg gattaaagct agggccggca
     1501 ctaaaaattc agtcacaggt atctcagcat gtgggaagta tgttctacaa gaaaactctt
     1561 tcatttccta taagacaagc atttgatcaa ccagcagata catcccctct tctggatcct
     1621 aattcctgga gtgatacaat gaacattttt tgtccccagg atacaataat tcctaaagga
     1681 attgagcgag gtagtatgag aaactaaaag ccctcaagga ggaagaatag tcttagccag
     1741 ttttccaaag agcctaggat attacaaagg atgtgtgagg atttcccagt actggatgga
     1801 gaatgagaag agaaagtcag cctttctggg gctttcatgg aggagacttg cccaaggggc
     1861 ttccctgcca gggctgaatg accccagcac caaatgactg gagacgcatc cttaggagca
     1921 aatgctaatg aaggggagat ttacaaacat caagaaagct gcagatggat gtttccatga
     1981 agaaatctct gaagaaacca aaagagctga aactgaaaaa agagctccct cccttttttc
     2041 actcattttc cattcccaaa ccctgaaaga gataaaggca acccaatgaa accacagaga
     2101 ggcagaagag aacgggcaga agtacagaac agaaatggag aagctgacca cgactccatc
     2161 tcttctcatt ccagatttcc agcgtgaagc aggcccaagc tagggaaggt gagaagcttt
     2221 aaccttaaat tttcgagttt tggccaggcg cggtggctca cggctgtaat cccaacactt
     2281 tgggagtctg aggcgggcgg atcatgaggt caggagatta agaccagctt ggccaacatg
     2341 gtgaaacccc gtctctacta aaaatacaaa aaaaaa
//
