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"
misc_feature 139..141
/gene="AP5S1"
/gene_synonym="C20orf29"
/note="upstream in-frame stop codon"
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
//