LOCUS       NM_020725               5707 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ataxin 7 like 1 (ATXN7L1), transcript variant 1, mRNA.
ACCESSION   NM_020725
VERSION     NM_020725.2
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 5707)
  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   2  (bases 1 to 5707)
  AUTHORS   Shaffer,J.R., Feingold,E., Wang,X., Lee,M., Tcuenco,K., Weeks,D.E.,
            Weyant,R.J., Crout,R., McNeil,D.W. and Marazita,M.L.
  TITLE     GWAS of dental caries patterns in the permanent dentition
  JOURNAL   J Dent Res 92 (1), 38-44 (2013)
   PUBMED   23064961
REFERENCE   3  (bases 1 to 5707)
  AUTHORS   Cummings,A.C., Jiang,L., Velez Edwards,D.R., McCauley,J.L.,
            Laux,R., McFarland,L.L., Fuzzell,D., Knebusch,C., Caywood,L.,
            Reinhart-Mercer,L., Nations,L., Gilbert,J.R., Konidari,I.,
            Tramontana,M., Cuccaro,M.L., Scott,W.K., Pericak-Vance,M.A. and
            Haines,J.L.
  TITLE     Genome-wide association and linkage study in the Amish detects a
            novel candidate late-onset Alzheimer disease gene
  JOURNAL   Ann Hum Genet 76 (5), 342-351 (2012)
   PUBMED   22881374
REFERENCE   4  (bases 1 to 5707)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 5707)
  AUTHORS   Helmlinger,D., Hardy,S., Sasorith,S., Klein,F., Robert,F.,
            Weber,C., Miguet,L., Potier,N., Van-Dorsselaer,A., Wurtz,J.M.,
            Mandel,J.L., Tora,L. and Devys,D.
  TITLE     Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing
            complexes
  JOURNAL   Hum Mol Genet 13 (12), 1257-1265 (2004)
   PUBMED   15115762
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005099.2, AC007030.3 and AC073073.2.
            
            On Jul 21, 2020 this sequence version replaced NM_020725.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            CCDS Note: This CCDS representation is mostly supported by the long
            mRNA AB033044.1. However, it should be noted that AB033044.1
            contains a chimeric 5' end and lacks the supported start codon for
            this gene. This CCDS representation therefore uses the expected
            start codon, with support from other human and homologous
            transcripts, including human BC030616.2 and several ESTs, mouse
            BY174440.1 and BY202771.1, and cow EV623524.1, DN286973.1 and
            AW654672.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1029492.1,
                                           SRR14038192.2108748.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000419735.8/ ENSP00000410759.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-222               AC005099.2         115119-115340       c
            223-291             AC005099.2         114553-114621       c
            292-396             AC005099.2         27345-27449         c
            397-619             AC007030.3         21461-21683         c
            620-903             AC073073.2         113447-113730       c
            904-986             AC073073.2         110096-110178       c
            987-1243            AC073073.2         108962-109218       c
            1244-1436           AC073073.2         94684-94876         c
            1437-1558           AC073073.2         90809-90930         c
            1559-2513           AC073073.2         84471-85425         c
            2514-2588           AC073073.2         81138-81212         c
            2589-5707           AC073073.2         75381-78499         c
FEATURES             Location/Qualifiers
     source          1..5707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     gene            1..5707
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /note="ataxin 7 like 1"
                     /db_xref="GeneID:222255"
                     /db_xref="HGNC:HGNC:22210"
     exon            1..222
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..2627
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ataxin 7-like 4; ataxin-7-like protein 1; ataxin-7-like
                     protein 4"
                     /codon_start=1
                     /product="ataxin-7-like protein 1 isoform 1"
                     /protein_id="NP_065776.1"
                     /db_xref="CCDS:CCDS47682.1"
                     /db_xref="GeneID:222255"
                     /db_xref="HGNC:HGNC:22210"
                     /translation="MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLG
                     KPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEDMHLFGHYPAHDDFYLVVC
                     SACNQVVKPQVFQSHCERRHGSMCRPSPSPVSPASNPRTSLVQVKTKACLSGHHSASS
                     TSKPFKTPKDNLLTSSSKQHTVFPAKGSRDKPCVPVPVVSLEKIPNLVKADGANVKMN
                     STTTTAVSASSTSSSAVSTPPLIKPVLMSKSVPPSPEKILNGKGILPTTIDKKHQNGT
                     KNSNKPYRRLSEREFDPNKHCGVLDPETKKPCTRSLTCKTHSLSHRRAVPGRKKQFDL
                     LLAEHKAKSREKEVKDKEHLLTSTREILPSQSGPAQDSLLGSSGSSGPEPKVASPAKS
                     RPPNSVLPRPSSANSISSSTSSNHSGHTPEPPLPPVGGDLASRLSSDEGEMDGADESE
                     KLDCQFSTHHPRPLAFCSFGSRLMGRGYYVFDRRWDRFRFALNSMVEKHLNSQMWKKI
                     PPAADSPLPSPAAHITTPVPASVLQPFSNPSAVYLPSAPISSRLTSSYIMTSAMLSNA
                     AFVTSPDPSALMSHTTAFPHVAATLSIMDSTFKAPSAVSPIPAVIPSPSHKPSKTKTS
                     KSSKVKDLSTRSDESPSNKKRKPQSSTSSSSSSSSSSLQTSLSSPLSGPHKKNCVLNA
                     SSALNSYQAAPPYNSLSVHNSNNGVSPLSAKLEPSGRTSLPGGPADIVRQVGAVGGSS
                     DSCPLSVPSLALHAGDLSLASHNAVSSLPLSFDKSEGKKRKNSSSSSKACKITKMPGM
                     NSVHKKNPPSLLAPVPDPVNSTSSRQVGKNSSLALSQSSPSSISSPGHSRQNTNRTGR
                     IRTLP"
     exon            223..291
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            292..396
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            397..619
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            620..903
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            904..986
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1243
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1436
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1558
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            1559..2513
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            2514..2588
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     exon            2589..5707
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5681..5686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /note="hexamer: ATTAAA"
     polyA_site      5707
                     /gene="ATXN7L1"
                     /gene_synonym="ATXN7L4"
                     /note="major polyA site"
ORIGIN      
        1 cctccccctt tcagaacact caatgtcgga acgttccgaa gatgacgtcg gagcgttctc
       61 gaatcccgtg tctctcggct gctgctgccg aaggaacagg gaaaaagcaa caagaaggaa
      121 gagcaatggc gacactggat cgcaaagtgc ccagtccgga ggcgtttctg ggcaaaccct
      181 ggtcctcctg gatcgacgcc gccaaattac actgctccga caatgtagat ttagaagagg
      241 ctggaaaaga gggtggaaaa agcagggagg ttatgaggct taataaagaa gatatgcact
      301 tatttggcca ttacccagca catgacgact tctatctcgt agtgtgcagt gcctgtaacc
      361 aggtcgtcaa gccacaggtt ttccagtcgc actgcgagag aagacacggt tcaatgtgta
      421 gaccttctcc ctctccagtg tctccagcct ccaatcccag gacatcacta gtacaggtga
      481 aaacaaaagc ctgtctcagc ggccatcact ctgccagcag cacctcaaag ccattcaaaa
      541 cgcccaaaga caatctactt acctccagca gcaaacagca cacagtcttt cctgcgaaag
      601 gatcaaggga taaaccatgt gttccagttc ctgtagtcag tttagagaaa attcctaacc
      661 tagtgaaggc agatggtgcc aatgtcaaaa tgaactccac aaccactact gcagtttctg
      721 cctcctccac ctcgtcctct gccgtctcca cccctccttt aattaagcct gtcctgatgt
      781 ccaagtcagt gccaccttca ccagagaaga tcttaaatgg caaaggaatt ctgccaacca
      841 ccatagacaa gaaacaccaa aatggcacca aaaacagcaa caagccttac aggagacttt
      901 cagagagaga atttgaccca aataaacact gtggagtatt ggatcccgag acaaagaaac
      961 cttgcacaag atccctcacc tgcaagacac attcgctaag ccatcggagg gcagtcccag
     1021 gccggaaaaa gcaatttgac ctcctcctgg cagaacacaa agcaaagtcc cgggaaaaag
     1081 aagttaaaga taaagagcat ctcctgactt ccacgaggga aatacttcca agccaatccg
     1141 ggccggcaca ggattctctg ctagggtctt cagggagctc tgggccagaa ccaaaagttg
     1201 catcccctgc aaaatccaga ccacccaact ctgtacttcc tagaccatca tctgcaaata
     1261 gcataagcag cagcacatct tcaaatcata gcggccacac tccagagccc ccactcccac
     1321 cggttggagg tgacctcgcc agccgactgt ccagtgatga aggggagatg gacggagccg
     1381 acgaatccga gaagctagac tgtcagttct ccacgcacca ccccagacct ctggcgtttt
     1441 gctcatttgg gagtcgcctc atgggacgag ggtactatgt gtttgataga agatgggatc
     1501 gttttcgatt cgcactaaac tccatggtag aaaaacacct gaattcacag atgtggaaga
     1561 agatccctcc tgcggcagat agccccctgc cctcgccagc agcccacatc accacccccg
     1621 ttccagcatc cgttttgcag cctttcagca accccagtgc tgtgtatctt ccttcagctc
     1681 ccatcagctc gaggctcacc tcttcttaca taatgacatc agccatgctc tcaaacgcag
     1741 ctttcgtgac atcgccggac ccgagcgccc tcatgtccca caccacagct ttccctcatg
     1801 tggccgcaac cctcagcatc atggactcaa ccttcaaggc cccatccgcc gtgtccccga
     1861 taccagccgt catcccttcc ccatcccaca agccatccaa aaccaaaacc agcaaatcct
     1921 caaaagtcaa agacctgtcc acccgtagcg acgagtctcc aagtaacaaa aaaaggaagc
     1981 cacagtcttc gacttcctcc tcctcctcct cctcctcctc ttccttgcag acatccctct
     2041 cgtctccact gtcagggcct cacaaaaaga actgtgtttt gaatgccagt tctgctttga
     2101 actcctatca ggcggcccct ccctataaca gcctgtctgt gcacaactca aacaatgggg
     2161 tgagcccact cagtgccaaa ctggagccct caggacggac ctcgctgccc ggcggccccg
     2221 cggacatagt gagacaggtg ggcgcggtgg gaggcagcag tgactcctgt cccctctctg
     2281 tgccctccct tgcgctccac gcaggggacc tctctctggc ctcacacaat gctgtgtctt
     2341 ctctgcccct ctcttttgac aaatcagaag gaaaaaagcg taagaactcg agttctagta
     2401 gcaaagcctg taaaatcact aaaatgcctg gtatgaatag cgttcacaaa aagaacccgc
     2461 ccagccttct cgcaccggtg cccgatcccg ttaacagcac ctcctctcgg caggttggga
     2521 aaaatagcag cctagctttg tcacaatcca gtccttcaag tatatccagc ccaggacaca
     2581 gccgacagaa cacaaacaga acgggcagga taaggactct tccataacaa gactatgaag
     2641 ccacttccac atcaattcca ggccacctaa tcccatccga ggaggccatg gggaggagga
     2701 gggaggggag tgggctgggg ggagagtctg ttttctgtgc actccctgtg actctggcct
     2761 ttcttcttct ttttttaatt gaccaatttt tagttaaaaa ggcaaaagaa ggtgaatttg
     2821 agatttacag aaaacagttc cagtgtttgg tttccgctgt ctttcctttc atttgccatg
     2881 tttttacatt cttccaaatt tggggtcact cccctagctc ctgatgctgc tactgtacca
     2941 tccttttgct ccagccatga gagcagacat tgcagaatgt tggttccagg ttggcatgct
     3001 ctgaagctct tgaactgtag cacaggcaga gccctttttc ttcctgtcat ctccacccga
     3061 ttccttccat ccctacgtct accactctct gggtcctcac tggtcttcaa aggacctggc
     3121 tctcatagga tcccctcagg attgtgtgca gggagagggg gctttgctgg ggaggagctg
     3181 ggagtggaga gttggagggt gggtggggtt ccctcatcca gtttccacag cccaccatgg
     3241 ctggagccaa atgctagaag cgagattgag aacagtggcc gtttagtgat gtggtttacc
     3301 taataccact gtccagctgt gcagctcaga aaggataaac cagtcaggga caggggccag
     3361 aacaggtttg ggaaggtggc agcaagcaga gcatggtggg taggagatga tccctaaaaa
     3421 aactggagac tgtggtggtc tgagctggtc aggaatctgc agaatccctt ccaggaatca
     3481 gtgtgccagt gcccacagca gggtgagcta ggagggagaa atcccaggaa aaaggtcgtg
     3541 agaacccaga aagccactcc atgaggaggc acggtgacca cagctgctaa aggttcttag
     3601 gctgccttcc tgggctagga agagcccccc agggagagct tccacaaaag ggtatgtgtc
     3661 aaaccttttg tcagaataaa taatagcatt tcccacccac ccccatgccc tgggccacag
     3721 ggacttggtg ggatcagcac acccatggat cagcttttgc tgtcttagag acagccatcc
     3781 ccatgaagga atggtaagga cagccactgc tcagtgaaga acagccattt ggaagagcca
     3841 cgctggagcc ctgcagccat agaactattc acactggagt tttaaaagaa acagcaatac
     3901 cataagctct agtagggaat cataatcagg aaaggaattc acaacataaa ataggtgttc
     3961 tgtgctatta atcatgtaac tttgtatatg atgtatagca aagatactgg gaggttttgt
     4021 ttcatcctta aatcagaaat gaatgctagt ttcatagctg ggcagaaccc tcatccccac
     4081 cccaaagttt tccttttctt tcccgttccc ccaacccaaa gatcagacta ctgttaagtt
     4141 tcaccacaca attggaattg caaagacggg aggcaaatgg agtgattttc atcaatggaa
     4201 ttgcactgac agtgagtgtt tcttatagga ttactaaatt ttttaatata aaatgatttg
     4261 tttaaaaatc aggagttgat attaagtacc aggacattag ttcggatgat ttcattttta
     4321 tttctacagt gttaaaagtg cacttatatg ctggtttatt tacgtcttgg gaaaagagac
     4381 tgcaaattga agggatgatt gttacttttt ctttttttaa aaaaaaaagg ttaaggagat
     4441 tttaagactt ataaatgttt aagaaattat aaacaaggtt agaccctttg aaaaaaagtt
     4501 tagaagatat tcttaaagta aatttttata gtgttaattt tgtaataatt tatgttttac
     4561 tatattacag agctaactga ccagaatagt ttcagaaaca atatgaaact taggaaagtt
     4621 taagcaatgt ttatattttt aaaatgttct ttgaattatg tttttattgt acatttcttc
     4681 agactgaaaa gtatgtacat atctttgtta tttttgcaca attttgtctt gttcggtttc
     4741 agaggtctgt tgttttttat aatttatttt gagttgtaaa acttgcagga gtaaaaacaa
     4801 aaaacaaaat ctccacaaca aaataaccct ctgatttata aactcttata gtcaaagagg
     4861 gaaaacaaag gttgagagat taagtggctg cttctgagaa ataatgtctc aaggactaaa
     4921 ggagcaattc aataggttta gacattgtag ctctctacat cttgaattgg aagctggaat
     4981 aaagagcccc cacccccccc cccaccctca tcgaatgctg cttactttgt caaaagactg
     5041 gctatgacca aggtgaggat atttctggaa aactgggcaa aaagggaaag cccacagtat
     5101 tcttccttgg cagtcaacca caggtttact ttacaatgat gtattaaaaa cttgcagctt
     5161 gaaaaatgga atgcaaataa aaggttctct ttgggtttgt cttaatggag ttaaactgga
     5221 gcagcctata aaacattttt agggtgatgt cctctgggtc cttctgttct gcacacccac
     5281 tcagtcttct ctcccagccc cttgactgca cacacccctc tttgcctgaa gatctcctga
     5341 cttgtcgcca gccatagagg ctcgaaagct ctggttgtga agcataacgc aatgcataga
     5401 cctgtcagcc ataaaaaaaa aaaaaaaaaa aaaaaagcga cttggataac ttgtatgcct
     5461 tcttttgtat caatgtacca attgtaaata atgctgatca acctttgtag agaatagttt
     5521 atacagcata ttctattatt gctgattctc agtgaactct tgttttaaaa aaggaaaaaa
     5581 agaaattttc tatttacacc ttatattttg ttatgctgtc ggcccatggc actttaacaa
     5641 aactctgtgg gttttacgta gctggtcagt catggggtat attaaataac tgttgttgca
     5701 cagacaa
//
