LOCUS       NM_018347               5372 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens adaptor related protein complex 5 subunit sigma 1
            (AP5S1), transcript variant 2, mRNA.
ACCESSION   NM_018347
VERSION     NM_018347.3
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 5372)
  AUTHORS   Hirst,J., Barlow,L.D., Francisco,G.C., Sahlender,D.A., Seaman,M.N.,
            Dacks,J.B. and Robinson,M.S.
  TITLE     The fifth adaptor protein complex
  JOURNAL   PLoS Biol 9 (10), e1001170 (2011)
   PUBMED   22022230
  REMARK    Erratum:[PLoS Biol. 2012 Mar;10(3). doi:
            10.1371/annotation/89dff893-c156-44bb-a731-bfcc91843583]
REFERENCE   2  (bases 1 to 5372)
  AUTHORS   Slabicki,M., Theis,M., Krastev,D.B., Samsonov,S., Mundwiller,E.,
            Junqueira,M., Paszkowski-Rogacz,M., Teyra,J., Heninger,A.K.,
            Poser,I., Prieur,F., Truchetto,J., Confavreux,C., Marelli,C.,
            Durr,A., Camdessanche,J.P., Brice,A., Shevchenko,A.,
            Pisabarro,M.T., Stevanin,G. and Buchholz,F.
  TITLE     A genome-scale DNA repair RNAi screen identifies SPG48 as a novel
            gene associated with hereditary spastic paraplegia
  JOURNAL   PLoS Biol 8 (6), e1000408 (2010)
   PUBMED   20613862
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5372)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA253969.1, BC043344.1, AK002030.1 and AL109804.41.
            
            On Nov 24, 2018 this sequence version replaced NM_018347.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2, and 3 encode the same
            protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.400910.1, AK002030.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000615891.2/ ENSP00000481750.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                DA253969.1         24-63
            41-1480             BC043344.1         1-1440
            1481-1841           AK002030.1         1472-1832
            1842-5372           AL109804.41        149894-153424
FEATURES             Location/Qualifiers
     source          1..5372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..5372
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /note="adaptor related protein complex 5 subunit sigma 1"
                     /db_xref="GeneID:55317"
                     /db_xref="HGNC:HGNC:15875"
                     /db_xref="MIM:614824"
     exon            1..212
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /inference="alignment:Splign:2.1.0"
     exon            213..404
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /inference="alignment:Splign:2.1.0"
     CDS             229..831
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /note="protein C20orf29; sigma5; adapter-related protein
                     complex 5 sigma subunit; adaptor-related protein complex 5
                     sigma subunit; adaptor related protein complex 5 sigma 1
                     subunit"
                     /codon_start=1
                     /product="AP-5 complex subunit sigma-1"
                     /protein_id="NP_060817.1"
                     /db_xref="CCDS:CCDS13070.1"
                     /db_xref="GeneID:55317"
                     /db_xref="HGNC:HGNC:15875"
                     /db_xref="MIM:614824"
                     /translation="MVHAFLIHTLRAPNTEDTGLCRVLYSCVFGAEKSPDDPRPHGAE
                     RDRLLRKEQILAVARQVESMCRLQQQASGRPPMDLQPQSSDEQVPLHEAPRGAFRLAA
                     ENPFQEPRTVVWLGVLSLGFALVLDAHENLLLAEGTLRLLTRLLLDHLRLLAPSTSLL
                     LRADRIEGILTRFLPHGQLLFLNDQFVQGLEKEFSAAWPR"
     exon            405..5372
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1810..1815
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /note="hexamer: ATTAAA"
     polyA_site      1841
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /note="major polyA site"
     polyA_site      4684
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
     regulatory      5354..5359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
                     /note="hexamer: AATACA"
     polyA_site      5372
                     /gene="AP5S1"
                     /gene_synonym="C20orf29"
ORIGIN      
        1 gcagccgcca ttgctctcct gccacggagg ggagcgcttg gtggcagtcc gcgggcccgg
       61 acggaaggct gaggcgacgc ctcgacgaca gcggaccgga gctgcagggg caacacattc
      121 agggcggggt gccccattta ggcctggctg accggagtaa gaaactacaa cccccgaagt
      181 gccttgcgcc tcaaggttac ggaggcagtg accacccacc ctggagccat ggtccacgcc
      241 ttcctcattc acaccttgag ggccccgaat actgaggaca cgggcctttg ccgagtgctg
      301 tactcctgcg tcttcggtgc tgagaagtca cctgatgacc cacggccgca tggtgccgag
      361 agggacaggc ttctccggaa ggaacagatt ttagctgtgg ccaggcaggt agagtcaatg
      421 tgtcggctgc agcagcaggc atctggccgg ccccccatgg acctgcagcc gcaatcctca
      481 gatgagcaag tgccgctgca cgaggcccca cgtggggctt tccgcctggc agcagagaac
      541 cctttccagg agccacggac ggtggtgtgg ctgggcgtgc tctcgttagg ctttgccctg
      601 gtgctggatg cccatgagaa cctgctactg gctgagggca cgctccggct gctgacacgc
      661 ctcctccttg accacctccg gctgctggcg cccagcacca gccttctgct gcgggctgac
      721 cgcattgagg gcatcctcac ccgcttcctg ccacatggtc agctgctttt cctcaacgac
      781 cagtttgtcc aaggcctgga gaaggaattc agtgccgctt ggccccgctg attcctcgtt
      841 gggatggtgc ttctgagggc aggcagaggg tagacacaca gccagatgaa gcttggcatc
      901 tccctcctac ccagcagctc tgatgtgctg ctataccagg acaagtgggt gacacaagcc
      961 tgcagaaagg gggctgggca gagggtggag gaggtcctgc ctgtcctcag gttagtggaa
     1021 ccacagaact tcctgagcct agagctgctg tgttacttag accgctgccg tgcggcagcc
     1081 acgcttgtcc ttgaacccac cttcctccat ccctgccagc cgatagtgct agggtgagga
     1141 gctgcctgga gctcaccccg ctcttcttcc aaacccacag tcaaggccag gcgcggtggc
     1201 tcacgcctgt aatcccagca ctttgcgggg ctgaggtggt tggaccacct caggtcggga
     1261 gttcaagacc agcctggcca acatagtgaa accccatctc tactaaaaat acaaaaatta
     1321 gctgggtgta tggcgcccac ctgtaatcct agctgctcag ggggctgagt catgggaatc
     1381 acttgaacct gggaggcaga gtttgcagtg agccgagagt gcgccacttc actccagcct
     1441 gggcaacaga gtgagactcc atctcaaaaa aaaaaaaaaa atcccacagt catcgaaaca
     1501 caaaaggggt ctcagactcc cctgagggtg gaggagctgt gcctgcatgc tggcaggcca
     1561 cagcccctgg ctttgtgccc acttaggcag tattatcaac aaggtcctgc tcagtgtcca
     1621 gcccccgctg agttcagaaa tgcatctgcc aatcagcagc aggattctgc agctcctttt
     1681 gtgccaagcc cgttcccacc aggcaggctc gagataaagt catcacagcc ttccctcatc
     1741 tgcagggaga gaagttgctg tcagatgaat gtgagcagtc tagcctggat gacatatttt
     1801 tcgttttgaa ttaaaagcac tggctgtgtg attttaccct ctttctgtga gtttgatgcg
     1861 tgcatcctgc tcctatgagt gagtgcctct ctggatggcc ccaaagctgc gtgtctgagc
     1921 tttcgtggtc aaggatcccc ctaggaggct tcttgggatg cctccatctc tcatccccac
     1981 ctcacctctg tctccttaga ggcctccttt ggatggtggc acacatttct ccaccaaagt
     2041 atatgtcaca ggtggcaggt ggctgtggca gagccgtctg agaagcagtg cttgggctga
     2101 gaattggtgc gagtggttta tgtggggtgg gcggtgatcc cgggaagcag gaaggggaca
     2161 cagtcctcgt gaatgcttgt caagcctatt aggactgtgg tagggagctg agtgcctcta
     2221 gggggctgca cacagcagtt gcctctgaat tacctcacct gagaggtggc ggctgtgggt
     2281 gtttgcctac tgcctttagt cagtggttac aggttgatcc cagggtgcat acattccctg
     2341 gctctttctg cccctgagaa aaagccttca ggcaatgtgg agctgggcct gcctgcacca
     2401 tgttgagtcc caaagggata tgggtggggt accaaaagtc ggtggttagg aggtcttcaa
     2461 tcagcagctt ctagtgaagg tttaaactta ctcagttggg ggcggggggt gggggaaaaa
     2521 ccacttcagt ttacattgat tttcatgatc ttcctgttac caaggaaggt gaggctttct
     2581 tggcagaacg agcctcctag gtgctcagct ctcatgcttg ccatccatca gttgcccttt
     2641 agcatccagg atggacccaa ctacacccac tttggaggca gcactgatga ttagcccttc
     2701 caagtccatg gccaaggcca ccagccatgc caggccttct accaccactg tcaacataat
     2761 tgggatgagg ccaccttttc cattttatgg tgccacaaac caccttgacc atgaagacct
     2821 aaagggatgt tactctgtgt gtgtggccaa gtcccaccag tggaaatgtc ccacaggcct
     2881 ctagtaggga caccccttcc ctatacattc tgttctcctg gcccacccct caccccaggc
     2941 tggcggtcct ggtggattgg ctgtgttctc agggaacagg ccattttgtc ctctatggaa
     3001 aggctcaagc ttactgatct gaattctttc tgcctttttt tcaaacggaa cttaaggaag
     3061 aggttgagac tctgctcccc tgggagctgt gggaagttga ggttaggcgt ggctggtggc
     3121 ctggttctca tgaggtgggg caaactgatg gacaagagaa tagtagagac tgagaccaca
     3181 ccgtggggct gctgagctcc agttcctgtc cagctggacc agggttttct taaccagatg
     3241 agcttgccca gcacccttcc cacacttcac acttctgccc cagcctcttg ggctgggttt
     3301 ccaccacaat ttatgctcac catatattta tcgagcctcc cttgggcctg atgctctgct
     3361 gggtgcaatg caggatacag aatgacccca aagttccagg agagacagag ctaaggccag
     3421 gtgactgcag atgactgcaa agcagcaatg gtttgagcat ccctgaattg ctgctcacaa
     3481 gtgctttaaa cacctaaagg aagaaggggc acttcagtga cgaaggccaa gtgaaggagc
     3541 caggatttag aactaaaagt gagatggcta tggaagcaaa cttgcctccc tctccaagcc
     3601 tcttcccttt cttctccctg ccccaggaac cctggccaaa ccacatatcc ctcagcttct
     3661 tgagagaact agagactttg agcagctagt agtgttacca gtgtacctcc acaaacactc
     3721 ctgggacaac agatgatgac aggagggcag tagagcccag agaagagagc ttacctggaa
     3781 ggaggaagaa gtcacaggtt ttgttttgtt ttgttttagg cggagtttct ctttgttgcc
     3841 caggctggag tgcagtggcg caatctcggc tcattgcaag ctccgcctcc cagattcacg
     3901 ccattctgtc tcagcctccc aagtagctgg gactacaggt gcctgccacc acgtccggtt
     3961 aagtttttct atttttagta gagacggggt ttcaccgtgt tagccaggtt ggtctacatc
     4021 tcctgacctt gtgatccgcc cgccgtggcc tctcaaagta ccgggattat aggcgtgagc
     4081 caccacgact gactggcatg aagtcacagg ttttaaggca ggaactggcc tgcatgtatg
     4141 tgggtcactg attgggtcac atacactgca tgtatgtgag ccctgggatg ggattggatc
     4201 atcttgtctc ctttagggca gggtgttttt ttctagccct gtggtgctgc gcactgtcca
     4261 gcatcccccc agggctcaat gttttctttt ctttttcttt tttttttttt tttgagatgg
     4321 agtctcactc tgttgctcag gctggagtgc agtggtgcaa tcttggctca ctgcaacctc
     4381 tgcctcctgg gttcaagcaa ttctaccgcc tcagcctccc aagtagctgg gattacaagc
     4441 atgtgccacc atgcctggct aatttttgta tctttagtag agacagggtt tcaccgtgtt
     4501 ggccaggctg gtctcgaact ccttacctca ggtgatccac ccatattggc ctcccaaagt
     4561 gctgagatta caggtgtgag ccaccatgcc tggcctcaat cttttctttt aaacaattat
     4621 tcctatattt tattgtaatg cagttaaccg tgtttgtcag attcaatact ctgtgacccg
     4681 ttaaccaagt ctctgtatgt ttattactgc aattcaagtg gccgtgaccg ttttcttaaa
     4741 tatactttat ttgtttagtg caattttagg ttcacagtaa aactgagcag agggtacaga
     4801 gagttctcat ttactccctg tccccacaca tgcacagcct cccttatcac caacactggg
     4861 caccagagtg gtcatttgtt acaactgatg gaccttcatt gacacgtcac tatcaccaga
     4921 gtccatagtt tacattaggg ttcactcttg gggtggtaca ttctataggt ttggatgtat
     4981 tttcagtgac atgcatctac cattatagta tcatacagaa gagtttccct gcccgaacag
     5041 tcctctgctg cacctgttca ttcttccctc ccctcaaccc ctagcaacca ttgatccttt
     5101 tactgcttcc atagttttgc cttttccaga atgttgtgta gttagattca tactgtatat
     5161 gtagcctttt cagattgact tccttcactt agtaatgtac atttaagatt ccttcaagtc
     5221 ttttcatggc tgaatcatga gcttgacagc tcattttgga agtactgctg aatagtattc
     5281 cattatgtgg atgtacatta tctgttcacc tactgaagga catcttggtt gcttccaagt
     5341 tttggcaatt atgaatacaa ctgctacaaa ca
//
