LOCUS       XM_047433144            8018 bp    mRNA    linear   PRI 25-AUG-2024
DEFINITION  PREDICTED: Homo sapiens SPG11 vesicle trafficking associated,
            spatacsin (SPG11), transcript variant X1, mRNA.
ACCESSION   XM_047433144
VERSION     XM_047433144.1
DBLINK      BioProject: PRJNA168
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000015.10) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2024_08
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.3
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 08/23/2024
            ##Genome-Annotation-Data-END##
FEATURES             Location/Qualifiers
     source          1..8018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
     gene            1..8018
                     /gene="SPG11"
                     /gene_synonym="ALS5; CMT2X; KIAA1840"
                     /note="SPG11 vesicle trafficking associated, spatacsin;
                     Derived by automated computational analysis using gene
                     prediction method: Gnomon. Supporting evidence includes
                     similarity to: 6 mRNAs, 81 ESTs, 1167 long SRA reads, 5
                     Proteins, and 100% coverage of the annotated genomic
                     feature by RNAseq alignments, including 26 samples with
                     support for all annotated introns"
                     /db_xref="GeneID:80208"
                     /db_xref="HGNC:HGNC:11226"
                     /db_xref="MIM:610844"
     CDS             865..7593
                     /gene="SPG11"
                     /gene_synonym="ALS5; CMT2X; KIAA1840"
                     /codon_start=1
                     /product="spatacsin isoform X1"
                     /protein_id="XP_047289100.1"
                     /db_xref="GeneID:80208"
                     /db_xref="HGNC:HGNC:11226"
                     /db_xref="MIM:610844"
                     /translation="MIIDTQLCRGILFVLSSLGWIYIFDVVDGTYVAHVDLALHKEDM
                     CNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSAVALNLNLYFRQHPGHLLCERILE
                     DLPIQGPKGVDEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNSKLEVSCCAP
                     WFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHIS
                     EQEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGD
                     QQLCFVLTENGLSLILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGRCSIPIHALEA
                     GIENRQLDTVNFFLKSKENLFNPSSKSSVSDQFDHLSSHLYLRNVEELIPALDLLCSA
                     IRESYSEPQSKHFSEQLLNLTLSFLNNQIKELFIHTEELDEHLQKGVNILTSYINELR
                     TFMIKFPWKLTDAIDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNKIPEAQTFFR
                     IDSHSAQKLEELIGIGLNLVFDNLKKNNIKEASELLKNMGFDVKGQLLKICFYTTNKN
                     IRDFLVEILKEKNYFSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKEQDFFK
                     HKSVLDSFLKYDCKDEFNKQDHRIVLNWALWWDQLTQESILLPRISPEEYKSYSPEAL
                     WRYLTARHDWLNIILWIGEFQTQHSYASLQQNKWPLLTVDVINQNTSCNNYMRNEILD
                     KLARNGVFLASELEDFECFLLRLSRIGGVIQDTLPVQNYKTKEGWDFHSQFILYCLEH
                     SLQHLLYVYLDCYKLSPENCPFLEKKELHEAHPWFEFLVQCRQVASNLTDPKLIFQAS
                     LANAQILIPTNQASVSSMLLEGHTLLALATTMYSPGGVSQVVQNEENENCLKKVDPQL
                     LKMALTPYPKLKTALFPQCTPPSVLPSDITIYHLIQSLSPFDPSRLFGWQSANTLAIG
                     DAWSHLPHFSSPDLVNKYAIVERLNFAYYLHNGRPSFAFGTFLVQELIKSKTPKQLIQ
                     QVGNEAYVIGLSSFHIPSIGAACVCFLELLGLDSLKLRVDMKVANIILSYKCRNEDAQ
                     YSFIRESVAEKLSKLADGEKTTTEELLVLLEEGTWNSIQQQEIKRLSSESSSQWALVV
                     QFCRLHNMKLSISYLRECAKANDWLQFIIHSQLHNYHPAEVKSLIQYFSPVIQDHLRL
                     AFENLPSVPTSKMDSDQVCNKCPQELQGSKQEMTDLFEILLQCSEEPDSWHWLLVEAV
                     KQQAPILSVLASCLQGASAISCLCVWIITSVEDNVATEAMGHIQDSTEDHTWNLEDLS
                     VIWRTLLTRQKSKTLIRGFQLFFKDSPLLLVMEMYELCMFFRNYKEAEAKLLEFQKSL
                     ETLNTAATKVHPVIPAMWLEDQVCFLLKLMLQQCKTQYELGKLLQLFVEREHLFSDGP
                     DVKKLCILCQILKDTSIAINHTIITSYSIENLQHECRSILERLQTDGQFALARRVAEL
                     AELPVDNLVIKEITQEMQTLKHIEQWSLKQARIDFWKKCHENFKKNSISSKAASSFFS
                     TQAHVACEHPTGWSSMEERHLLLTLAGHWLAQEDVVPLDKLEELEKQIWLCRITQHTL
                     GRNQEETEPRFSRQISTSGELSFDSLASEFSFSKLAALNTSKYLELNSLPSKETCENR
                     LDWKEQESLNFLIGRLLDDGCVHEASRVCRYFHFYNPDVALVLHCRALASGEASMEDL
                     HPEIHALLQSAELLEEEAPDIPLRRVHSTSSLDSQKFVTVPSSNEVVTNLEVLTSKCL
                     HGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPDRCKRAQAFISTQG
                     LKPDTVAELVAEEVTRELLTSSQGTGHKQMFNPTEESQTFLQLTTLCQDRTLVGMKLL
                     DKISSVPHGELSCTTELLILAHHCFTLTCHMEGIIRVLQAAHMLTDNHLAPSEEYGLV
                     VRLLTGIGRYNEMTYIFDLLHKKHYFEVLMRKKLDPSGTLKTALLDYIKRCRPGDSEK
                     HNMIALCFSMCREIGENHEAAARIQLKLIESQPWEDSLKDGHQLKQLLLKALTLMLDA
                     AESYAKDSCVRQAQHCQRLTKLITLQIHFLNTGQNTMLINLGRHKLMDCILALPRFYQ
                     ASIVAEAYDFVPDWAEILYQQVILKGDFNYLEEFKQQRLLKSSIFEEISKKYKQHQPT
                     DMVMENLKKLLTYCEDVYLYYKLAYEHKFYEIVNVLLKDPQTGCCLKDMLAG"
ORIGIN      
        1 gtccagagcc taggctcggc tgactgagcc ccaagggctc acgccgaggc ctccctgcag
       61 ccatagaggt ggcgggagaa gggtgccagc tgcaggaaac gccccagagg cgagcgtggt
      121 ttcctcacag aacctttccc ccgacctgaa acgctcgcct cgttgcattc tggcagccca
      181 gctctcctgt tccgggtggg cggagacggc acccagctcc attgccacct gcggcgaacc
      241 cggaacgggt ctcagctgag gcgctgattc tttcattatt caacacaggt tgattaactg
      301 tcacagggtc gagtcccatg cccatttctt tcagttaaag atgccagctg aggatcatct
      361 ctaatttgaa tcatcctgat acttttttca tgtccttgaa gtgaatagcg ttttctttca
      421 catgtagtcc tcttcttcaa ggacagagtc cagtttgtcc cttcatttat tcagcaaata
      481 ttgtgtgctt gctgttacat aggagcagtg cctaaaaact ttctatggga ggattctcgt
      541 aacagcagca caccaactga aaagcccaaa ctgctcgctc ttggtgaaaa ttatgaactg
      601 cttatctatg aatttaattt gaaagatgga agatgtgatg caaccatttt gtatagctgt
      661 agtagggagg cattgcaaaa gctcattgac gatcaagata tcagtatttc cttattgtct
      721 ttgagaatcc tgtcatttca caataacaca tcattactgt tcatcaacaa atgtgtcatc
      781 ctacatatta tatttcctga aagagatgct gcaattagag tactcaactg tttcacactt
      841 cccttgcctg cacaggcagt ggacatgatt attgacacgc agctctgcag aggaattctt
      901 tttgttttga gtagtttagg ctggatctac atttttgatg ttgtggatgg tacatatgta
      961 gctcatgtgg atttagcact tcacaaagaa gacatgtgta atgagcagca acaggagcca
     1021 gccaagattt cttcatttac ttcactgaaa gtttctcaag acctcgatgt tgcagtgatt
     1081 gtcagctcct ccaactccgc agttgctctt aacttaaatt tgtatttcag gcaacaccca
     1141 ggacacctac tgtgtgaaag aatactagaa gatcttccta ttcaaggacc taagggcgta
     1201 gatgaagatg atcctgttaa ctctgcctac aacatgaaac tggccaagtt ttccttccaa
     1261 attgataggt cttggaaagc ccagctatca tcattgaatg aaacaataaa gaactccaaa
     1321 ctggaggttt cctgttgtgc tccatggttc caggatattt tgcatttgga gtcacctgaa
     1381 tctggtaacc acagtacaag tgtgcagagc tgggccttca ttccacagga cataatgcat
     1441 gggcaatata atgttctaca gaaagatcat gccaagacca gtgatccagg aagatcatgg
     1501 aaaataatgc acatcagtga acaagaggaa cccatagagc ttaaatgtgt gtctgtgaca
     1561 ggattcactg cactgtttac ttgggaagtg gaaaggatgg gctataccat taccctctgg
     1621 gatttggaga cccagggcat gcagtgtttt tcccttggca caaagtgtat tcctgtagac
     1681 agtagtggag accagcagct gtgctttgtt ttgacagaga atggactctc tctgattttg
     1741 tttggtttga ctcaagaaga gtttttaaac agactcatga tccatggaag tgccagcact
     1801 gtggacactc tttgtcatct caatggctgg ggaaggtgct caattcccat acatgcacta
     1861 gaggccggga tagaaaatcg tcagctggac acagtaaatt tctttttgaa gagcaaggaa
     1921 aatcttttta atccatcctc aaaatcttct gtatctgatc agtttgatca cttgtcatcc
     1981 catttatatt taagaaatgt ggaagagctg ataccagcat tggatttact ttgctcggca
     2041 attagagaaa gttattctga accccaaagc aaacactttt cagaacaatt gcttaatctt
     2101 acactgtctt tccttaacaa ccaaataaag gagcttttca ttcacactga agaactagat
     2161 gaacatctgc aaaaaggagt gaacattttg actagctaca ttaatgaact tcgaaccttc
     2221 atgataaagt ttccttggaa gctaacagat gctatagatg aatatgatgt acatgaaaat
     2281 gtccccaaag taaaggagag caatatatgg aagaaactca gctttgagga agttattgcc
     2341 agcgccattt taaacaacaa aataccagag gcacagactt tcttcaggat tgatagtcat
     2401 tctgctcaaa aacttgagga gcttattggc ataggcctaa atttggtctt tgacaattta
     2461 aaaaagaaca atataaagga agcctctgaa cttttgaaga atatggggtt tgatgtaaaa
     2521 ggccaattgc tcaagatctg cttctataca actaataaaa atatacgtga ctttttggtt
     2581 gaaattttaa aagaaaaaaa ttatttttct gaaaaagaga aaagaactat agacttcgtg
     2641 catcaagttg agaagcttta tttgggacat ttccaagaaa atatgcaaat ccagtcattt
     2701 cccaggtact ggataaagga acaagatttt ttcaagcaca agtctgtttt ggactcattc
     2761 ctgaaatatg attgtaaaga tgaatttaac aaacaggacc atagaattgt gttaaattgg
     2821 gctctgtggt gggatcaact aacacaagaa tccatccttc tccccaggat aagtccagaa
     2881 gaatacaaat catattcccc tgaagccctc tggagatacc tcacagctcg ccatgattgg
     2941 ttaaacatta tcttatggat tggagaattt caaacccagc atagttatgc ttcacttcag
     3001 cagaacaaat ggccccttct gactgttgat gttattaacc agaatacttc ctgtaacaac
     3061 tacatgagga atgaaatttt agataagctg gccaggaatg gggttttttt ggcatctgaa
     3121 ctggaagact ttgaatgctt cctcctaaga ctgagccgta ttggaggtgt aatacaggat
     3181 accctccctg ttcaaaacta caagaccaaa gaaggttggg atttccattc tcaattcatt
     3241 ctctattgtt tggagcacag tctgcagcat cttctttatg tctaccttga ctgttacaaa
     3301 cttagtcctg aaaattgtcc ctttttggaa aaaaaagagt tacatgaagc acacccttgg
     3361 tttgaatttt tagttcagtg tcgacaagtt gccagtaact taacagatcc caaactgatc
     3421 ttccaggcta gccttgcaaa tgctcagatt ttgattccca ccaatcaggc cagtgtaagc
     3481 agtatgctat tggaaggaca taccctcctg gcccttgcta ctacaatgta ttctcctggg
     3541 ggtgtcagtc aggttgttca gaatgaagaa aatgaaaact gtttgaagaa agtggatccc
     3601 cagctattga agatggcatt aactccttac cccaagctaa aaactgctct cttcccacag
     3661 tgcactcctc ctagtgtcct gccatctgat attacaatct accaccttat tcagtcatta
     3721 tcaccctttg atcctagcag attgtttggc tggcagtctg ctaacacact agctatagga
     3781 gatgcatgga gtcatctccc acatttctct agccctgacc tggttaataa atatgctata
     3841 gtggaacgtc tgaattttgc ttattattta cataatgggc ggccatcatt tgcatttggt
     3901 acttttctgg tccaggaatt aatcaagagc aagactccca agcagctgat ccagcaagta
     3961 ggcaatgaag cctatgttat agggctctcc tccttccaca taccttcaat aggagctgca
     4021 tgtgtttgtt tcttagaatt gcttggcctt gacagcctca agctcagagt tgatatgaaa
     4081 gtggccaata taattttgag ctacaagtgc agaaatgaag atgctcagta cagctttatc
     4141 agagagtctg tagccgaaaa actatctaaa ctagctgatg gtgaaaagac aaccacagaa
     4201 gaattgcttg ttctcttaga agaaggtaca tggaacagca ttcagcaaca ggaaataaag
     4261 aggttatcca gtgaatctag cagccaatgg gcattagtgg tgcagttctg caggctacac
     4321 aatatgaaac taagcatatc ttaccttaga gaatgtgcca aagcaaatga ttggctgcag
     4381 ttcattattc acagccaact ccacaactac cacccagcag aggtgaaatc ccttatccag
     4441 tacttcagcc cagtcattca agaccactta aggctggctt ttgagaactt gccctcagtg
     4501 cccacctcca aaatggacag cgatcaagtc tgcaataagt gcccccagga acttcaagga
     4561 agcaaacaag agatgaccga tttatttgaa attctgctcc aatgctcaga ggagccagac
     4621 tcctggcact ggcttctggt tgaagcagtg aaacaacagg cccctatcct cagtgttctg
     4681 gcctcatgtc tccagggtgc cagtgccatt tcttgtctct gtgtttggat catcacttct
     4741 gtggaggaca atgttgcaac tgaagcaatg ggacacattc aggactcaac agaggaccat
     4801 acctggaacc ttgaggatct ttcagtcatc tggagaacat tattaacaag acaaaagagc
     4861 aaaactctca tcagaggttt ccagcttttc tttaaggatt ccccgttact actggtgatg
     4921 gagatgtatg aactgtgtat gttcttcagg aattataaag aagctgaagc taaacttctg
     4981 gagtttcaga agagccttga aacgcttaac acagcagcca caaaggtcca ccctgtcatc
     5041 cctgccatgt ggctggagga tcaggtgtgt ttccttttga agcttatgct acagcagtgt
     5101 aagacccagt atgagctggg gaagctttta cagctctttg ttgaaagaga gcatctcttc
     5161 tctgatggtc cagatgtgaa aaagctttgc atcctttgcc agattttgaa ggatacatcc
     5221 atagccatta atcatacaat tattaccagc tacagcattg agaatcttca gcatgaatgt
     5281 agatctattt tggaaagact gcagacagat ggacaattcg ctttggccag gagggtagca
     5341 gaattagctg agttacctgt ggacaacttg gttattaaag agataacaca ggaaatgcag
     5401 accctaaaac acattgaaca gtggtcacta aaacaagcaa gaattgactt ctggaaaaaa
     5461 tgccatgaga attttaagaa aaattcaatt tcaagcaaag cagcttcttc ctttttctca
     5521 acccaggccc atgtggcatg tgagcaccca actggatgga gcagcatgga ggagcgccat
     5581 ctgctgctca ccttggcagg gcactggctt gcccaggagg acgtggtgcc cttggataag
     5641 ctggaggagc tggagaagca gatctggctg tgccgcatca cccagcacac tcttggaaga
     5701 aatcaggagg aaacagagcc cagattttct cgacagatct caactagtgg tgaactttcc
     5761 tttgatagtt tagccagtga gttttccttc tccaagttgg ctgctctgaa cacatcaaaa
     5821 tacttagaac ttaacagcct tccatccaaa gagacatgcg agaatagatt ggattggaaa
     5881 gagcaggagt cactaaactt tttgattggg cgcctactgg atgatggctg tgtgcatgaa
     5941 gcaagtagag tatgccggta ttttcatttt tataatccag atgtcgcctt ggtattgcac
     6001 tgcagagcac tggcctcagg ggaagctagt atggaggatc tgcacccaga gatccatgct
     6061 ctcctacaaa gtgctgagct gcttgaggaa gaagcacccg acattcccct aaggagagtc
     6121 cacagcactt caagtctgga tagtcagaag tttgtgacag tgccctccag taatgaagtg
     6181 gtaactaacc tggaagtgct gacaagcaaa tgcctccatg ggaagaacta ctgtcgacag
     6241 gtcctctgtc tgtatgatct tgccaaggag ttgggctgtt cctacacaga tgttgctgct
     6301 caggatggtg aagccatgct ccggaaaatc ttggcctctc agcagcctga ccgatgcaaa
     6361 cgagcccagg ccttcatcag cacacagggc cttaagccag atactgtggc tgaactcgtg
     6421 gcagaagagg tgacacggga gctgcttact tcatcacagg gaacaggaca taagcagatg
     6481 ttcaacccaa cagaggaaag ccagacattt cttcagctga ccactctgtg tcaagaccgc
     6541 acattggtag gcatgaagtt gttggataag atttcctccg ttccccatgg ggaactgtct
     6601 tgcaccacag agctcctgat cctggcccat cattgcttca ccctgacgtg ccacatggag
     6661 ggcatcatcc gagtcctaca ggccgcccac atgctcacag ataaccacct ggcccccagt
     6721 gaggagtatg ggctggtggt acggctcctc actggcattg gaaggtacaa cgagatgaca
     6781 tacatatttg atttgctgca taaaaagcac tactttgaag tgctaatgag gaagaagttg
     6841 gatccgagtg gtaccctgaa aacagccctg ctggactaca tcaaacgctg ccgtcctgga
     6901 gacagtgaaa agcacaatat gattgccctg tgcttcagca tgtgccggga gattggcgag
     6961 aaccacgagg cagctgcccg catccaactg aaattgattg agtctcagcc ctgggaggac
     7021 agcctcaagg atgggcacca gctgaaacaa ctgctgctga aggccctgac tctgatgttg
     7081 gatgcagcag agagttatgc caaggactcc tgtgtgcgac aggcccagca ctgtcagcgg
     7141 ctcaccaagt tgataactct gcagattcac tttctgaaca ctggccagaa cacaatgctc
     7201 atcaacttgg gccgccacaa gctgatggac tgtattctgg ccctacctcg gttctaccag
     7261 gcttctattg tggctgaggc ctacgatttt gttccagatt gggctgaaat tttataccag
     7321 caagtgattc ttaaaggaga ctttaattac ttggaagaat ttaagcagca aaggttatta
     7381 aagtccagta tatttgaaga gatttccaaa aaatataaac aacatcagcc tactgacatg
     7441 gtcatggaaa acctgaagaa attactcaca tattgtgaag atgtttacct gtattacaag
     7501 ttggcatacg aacacaagtt ttatgaaatt gtaaatgtgc ttctgaagga ccctcagaca
     7561 ggttgctgtc taaaggacat gctagcaggt tagatgattt cataggtgtc tgttttcttg
     7621 tactgttagc agattctgac agatgtgatg agaagaagaa tgcattggag atctttgcta
     7681 aagttgaaca atcccggtac tgtaccatat cagtcctttg tgggtagtag gtagcaagta
     7741 agaaactttt caggaggaaa ttcctattta aaatagattg attttagatg attgttcatc
     7801 cacaccattt tatatagata ctagtattaa gatcaaaagc ttcctcttcc tcaggacagc
     7861 ttctacttta gatgatccaa taatgattaa agaatacctg tacctgcaga ttccagtttc
     7921 aaagaaattt aattattatt tacacagtta aggaacaggt gatacatttt catttgttag
     7981 aaactgatct ttctgtaata aaatagattt tcaattca
//
