LOCUS       NM_018026               4571 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1),
            mRNA.
ACCESSION   NM_018026
VERSION     NM_018026.4
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 4571)
  AUTHORS   Moller-Hansen,A., Hejla,D., Lee,H.K., Lyles,J.B., Yang,Y., Chen,K.,
            Li,W.L., Thomas,G. and Boerkoel,C.F.
  TITLE     Do PACS1 variants impeding adaptor protein binding predispose to
            syndromic intellectual disability?
  JOURNAL   Am J Med Genet A 191 (8), 2181-2187 (2023)
   PUBMED   37141437
  REMARK    GeneRIF: Do PACS1 variants impeding adaptor protein binding
            predispose to syndromic intellectual disability?
REFERENCE   2  (bases 1 to 4571)
  AUTHORS   Bruno,L.P., Doddato,G., Baldassarri,M., Rizzo,C.L., Resciniti,S.,
            Bruttini,M., Mirjam,L., Zguro,K., Furini,S., Mencarelli,M.A.,
            Renieri,A. and Ariani,F.
  TITLE     Expanding the clinical spectrum associated with the PACS1
            p.Arg203Trp mutational hot-spot: Two additional Italian patients
  JOURNAL   Am J Med Genet A 191 (1), 284-288 (2023)
   PUBMED   36210549
  REMARK    GeneRIF: Expanding the clinical spectrum associated with the PACS1
            p.Arg203Trp mutational hot-spot: Two additional Italian patients.
REFERENCE   3  (bases 1 to 4571)
  AUTHORS   Sorokina,E.A., Reis,L.M., Thompson,S., Agre,K.,
            Babovic-Vuksanovic,D., Ellingson,M.S., Hasadsri,L., van Bever,Y.
            and Semina,E.V.
  TITLE     WDR37 syndrome: identification of a distinct new cluster of
            disease-associated variants and functional analyses of mutant
            proteins
  JOURNAL   Hum Genet 140 (12), 1775-1789 (2021)
   PUBMED   34642815
REFERENCE   4  (bases 1 to 4571)
  AUTHORS   Tenorio-Castano,J., Morte,B., Nevado,J., Martinez-Glez,V.,
            Santos-Simarro,F., Garcia-Minaur,S., Palomares-Bralo,M.,
            Pacio-Miguez,M., Gomez,B., Arias,P., Alcochea,A., Carrion,J.,
            Arias,P., Almoguera,B., Lopez-Grondona,F., Lorda-Sanchez,I.,
            Galan-Gomez,E., Valenzuela,I., Mendez Perez,M.P., Cusco,I.,
            Barros,F., Pie,J., Ramos,S., Ramos,F.J., Kuechler,A., Tizzano,E.,
            Ayuso,C., Kaiser,F.J., Perez-Jurado,L.A., Carracedo,A., The
            ENoD-Ciberer,Consortium., The Side,Consortium. and Lapunzina,P.
  TITLE     Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder):
            Seven Novel Patients and a Review
  JOURNAL   Genes (Basel) 12 (5), 738 (2021)
   PUBMED   34068396
  REMARK    GeneRIF: Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental
            Disorder): Seven Novel Patients and a Review.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4571)
  AUTHORS   Sakaguchi,Y., Yoshihashi,H., Uehara,T., Miyama,S., Kosaki,K. and
            Takenouchi,T.
  TITLE     Coloboma may be a shared feature in a spectrum of disorders caused
            by mutations in the WDR37-PACS1-PACS2 axis
  JOURNAL   Am J Med Genet A 185 (3), 884-888 (2021)
   PUBMED   33369122
  REMARK    GeneRIF: Coloboma may be a shared feature in a spectrum of
            disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
            Review article
REFERENCE   6  (bases 1 to 4571)
  AUTHORS   Blagoveshchenskaya,A.D., Thomas,L., Feliciangeli,S.F., Hung,C.H.
            and Thomas,G.
  TITLE     HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6
            endocytic pathway
  JOURNAL   Cell 111 (6), 853-866 (2002)
   PUBMED   12526811
  REMARK    GeneRIF: PACS-1 along with HIV-1 nef, has a role in downregulating
            cell surface MHC-I to the trans-Golgi network and usurping the ARF6
            endocytic pathway
REFERENCE   7  (bases 1 to 4571)
  AUTHORS   Crump,C.M., Xiang,Y., Thomas,L., Gu,F., Austin,C., Tooze,S.A. and
            Thomas,G.
  TITLE     PACS-1 binding to adaptors is required for acidic cluster
            motif-mediated protein traffic
  JOURNAL   EMBO J 20 (9), 2191-2201 (2001)
   PUBMED   11331585
REFERENCE   8  (bases 1 to 4571)
  AUTHORS   Piguet,V., Wan,L., Borel,C., Mangasarian,A., Demaurex,N., Thomas,G.
            and Trono,D.
  TITLE     HIV-1 Nef protein binds to the cellular protein PACS-1 to
            downregulate class I major histocompatibility complexes
  JOURNAL   Nat Cell Biol 2 (3), 163-167 (2000)
   PUBMED   10707087
REFERENCE   9  (bases 1 to 4571)
  AUTHORS   Wan,L., Molloy,S.S., Thomas,L., Liu,G., Xiang,Y., Rybak,S.L. and
            Thomas,G.
  TITLE     PACS-1 defines a novel gene family of cytosolic sorting proteins
            required for trans-Golgi network localization
  JOURNAL   Cell 94 (2), 205-216 (1998)
   PUBMED   9695949
REFERENCE   10 (bases 1 to 4571)
  AUTHORS   Lusk,L., Smith,S., Martin,C., Taylor,C. and Chung,W.
  TITLE     PACS1 Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32672908
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006287.2, AK096644.1,
            BC010096.1 and BQ772654.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018026.3.
            
            Summary: This gene encodes a protein with a putative role in the
            localization of trans-Golgi network (TGN) membrane proteins. Mouse
            and rat homologs have been identified and studies of the homologous
            rat protein indicate a role in directing TGN localization of furin
            by binding to the protease's phosphorylated cytosolic domain. In
            addition, the human protein plays a role in HIV-1 Nef-mediated
            downregulation of cell surface MHC-I molecules to the TGN, thereby
            enabling HIV-1 to escape immune surveillance. [provided by RefSeq,
            Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC052577.1, BC010096.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320580.9/ ENSP00000316454.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                AP006287.2         185523-185603
            82-181              AK096644.1         1-100
            182-4569            BC010096.1         9-4396
            4570-4571           BQ772654.1         22-23               c
FEATURES             Location/Qualifiers
     source          1..4571
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1-q13.2"
     gene            1..4571
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /note="phosphofurin acidic cluster sorting protein 1"
                     /db_xref="GeneID:55690"
                     /db_xref="HGNC:HGNC:30032"
                     /db_xref="MIM:607492"
     exon            1..571
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     CDS             216..3107
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /note="cytosolic sorting protein PACS-1"
                     /codon_start=1
                     /product="phosphofurin acidic cluster sorting protein 1"
                     /protein_id="NP_060496.2"
                     /db_xref="CCDS:CCDS8129.1"
                     /db_xref="GeneID:55690"
                     /db_xref="HGNC:HGNC:30032"
                     /db_xref="MIM:607492"
                     /translation="MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQ
                     PTPPKLAQATSSSSSTSAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMN
                     LYATWEVDRSSSSCVPRLFSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIV
                     LPASGLVETELQLTFSLQYPHFLKRDANKLQIMLQRRKRYKNRTILGYKTLAVGLINM
                     AEVMQHPNEGALVLGLHSNVKDVSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDN
                     YSEEEEESFSSEQEGSDDPLHGQDLFYEDEDLRKVKKTRRKLTSTSAITRQPNIKQKF
                     VALLKRFKVSDEVGFGLEHVSREQIREVEEDLDELYDSLEMYNPSDSGPEMEETESIL
                     STPKPKLKPFFEGMSQSSSQTEIGSLNSKGSLGKDTTSPMELAALEKIKSTWIKNQDD
                     SLTETDTLEITDQDMFGDASTSLVVPEKVKTPMKSSKTDLQGSASPSKVEGVHTPRQK
                     RSTPLKERQLSKPLSERTNSSDSERSPDLGHSTQIPRKVVYDQLNQILVSDAALPENV
                     ILVNTTDWQGQYVAELLQDQRKPVVCTCSTVEVQAVLSALLTRIQRYCNCNSSMPRPV
                     KVAAVGGQSYLSSILRFFVKSLANKTSDWLGYMRFLIIPLGSHPVAKYLGSVDSKYSS
                     SFLDSGWRDLFSRSEPPVSEQLDVAGRVMQYVNGAATTHQLPVAEAMLTCRHKFPDED
                     SYQKFIPFIGVVKVGLVEDSPSTAGDGDDSPVVSLTVPSTSPPSSSGLSRDATATPPS
                     SPSMSSALAIVGSPNSPYGDVIGLQVDYWLGHPGERRREGDKRDASSKNTLKSVFRSV
                     QVSRLPHSGEAQLSGTMAMTVVTKEKNKKVPTIFLSKKPREKEVDSKSQVIEGISRLI
                     CSAKQQQTMLRVSIDGVEWSDIKFFQLAAQWPTHVKHFPVGLFSGSKAT"
     exon            572..659
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            660..749
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            750..875
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            876..1020
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1112
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1193
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1253
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1414
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1508
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1509..1589
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..1705
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1706..1841
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1842..1946
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1947..2053
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2054..2208
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2209..2319
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2320..2422
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2423..2465
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2466..2508
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2509..2644
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2645..2871
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2872..2991
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     exon            2992..4571
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4547..4552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /note="hexamer: AATAAA"
     polyA_site      4571
                     /gene="PACS1"
                     /gene_synonym="MRD17; SHMS"
                     /note="major polyA site"
ORIGIN      
        1 acccgtgtcg gcctcgcgag ccgcaacagg cagcggcggt cgagcgcgag gcccgcgcgc
       61 ccagaggccc cgcgcgtgcg tgcagctcgc tggctgctcg cgctcgggca ggcgggctga
      121 ggaggctgcc gcgcccccgc cgccgccgcc gcgggggaag cctgggagcc agatcggcgt
      181 cgcctcggcc tccgtaaccc ccgcctagcc gggccatggc ggaacgcgga ggggcgggcg
      241 gtggtcccgg aggcgccggg ggcggcagcg gccagcgggg atccggggtc gcccagtccc
      301 ctcagcagcc gccgccgcag cagcagcagc agcagccgcc gcagcagccg acgcccccca
      361 agctggccca ggccacctcg tcgtcctcgt ccacctcggc ggcggctgcc tcctcctcgt
      421 cctcgtctac ctccacctcc atggccgtgg cggtggcctc gggctccgcg cctcccggtg
      481 gcccggggcc aggccgcacc cccgccccgg tgcagatgaa cctgtacgcc acctgggagg
      541 tggaccggag ctcgtccagc tgcgtgccta ggctattcag cttgaccctg aagaaactcg
      601 tcatgctaaa agaaatggac aaagatctta actcagtggt catcgctgtg aagctgcagg
      661 gttcaaaaag aattcttcgc tccaacgaga tcgtccttcc agctagtgga ctggtggaaa
      721 cagagctcca attaaccttc tcccttcagt accctcattt ccttaagcga gatgccaaca
      781 agctgcagat catgctgcaa aggagaaaac gttacaagaa tcggaccatc ttgggctata
      841 agaccttggc cgtgggactc atcaacatgg cagaggtgat gcagcatcct aatgaaggcg
      901 cactggtgct tggcctacac agcaacgtga aggatgtctc tgtgcctgtg gcagaaataa
      961 agatctactc cctgtccagc caacccattg accatgaagg aatcaaatcc aagctttctg
     1021 atcgttctcc tgatattgac aattattctg aggaagagga agagagtttc tcatcagaac
     1081 aggaaggcag tgatgatcca ttgcatgggc aggacttgtt ctacgaagac gaagatctcc
     1141 ggaaagtgaa gaagacccgg aggaaactaa cctcaacctc tgccatcaca aggcaaccta
     1201 acatcaaaca gaagtttgtg gccctcctga agcggtttaa agtttcagat gaggtgggct
     1261 ttgggctgga gcatgtgtcc cgcgagcaga tccgggaagt ggaagaggac ttggatgaat
     1321 tgtatgacag tctggagatg tacaacccca gcgacagtgg ccctgagatg gaggagacag
     1381 aaagcatcct cagcacgcca aagcccaagc tcaagccttt ctttgagggg atgtcgcagt
     1441 ccagctccca gacggagatt ggcagcctca acagcaaagg cagcctcgga aaagacacca
     1501 ccagccctat ggaattggct gctctagaaa aaattaaatc tacttggatt aaaaaccaag
     1561 atgacagctt gactgaaaca gacactctgg aaatcactga ccaggacatg tttggagatg
     1621 ccagcacgag tctggttgtg ccggagaaag tcaaaactcc catgaagtcc agtaaaacgg
     1681 atctccaggg ctctgcctcc cccagcaaag tggagggggt gcacacaccc cggcagaaga
     1741 ggagcacgcc cctgaaggag cggcagctct ccaagcccct aagtgagagg accaacagtt
     1801 ccgacagcga gcgctcccca gatctgggcc acagcacgca gattccaaga aaggtggtgt
     1861 atgaccagct caatcagatc ctggtgtcag atgcagccct cccagaaaat gtcattctgg
     1921 tgaacaccac tgactggcag ggccagtatg tggctgagct gctccaggac cagcggaagc
     1981 ctgtggtgtg cacctgctcc accgtggagg tccaggccgt gctgtccgcc ctgctcaccc
     2041 ggatccagcg ctactgcaac tgcaactctt ccatgccgag gccagtgaag gtggctgctg
     2101 tgggaggcca gagctacctg agctccatcc tcaggttctt tgtcaagtcc ctggccaaca
     2161 agacctccga ctggcttggc tacatgcgct tcctcatcat ccccctcggt tctcaccctg
     2221 tggccaaata cttggggtca gtcgacagta aatacagtag ttccttcctg gattctggtt
     2281 ggagagatct gttcagtcgc tcggagccac cagtgtcaga gcaactggac gtggcagggc
     2341 gggtgatgca gtacgtcaac ggggcagcca cgacacacca gcttcccgtg gccgaagcca
     2401 tgctgacttg ccggcataag ttccctgatg aagactccta tcagaagttt attcccttca
     2461 ttggcgtggt gaaggtgggt ctggttgaag actctccctc cacagcaggc gatggggacg
     2521 attctcctgt ggtcagcctt actgtgccct ccacatcacc accctccagc tcgggcctga
     2581 gccgagacgc cacggccacc cctccctcct ccccatctat gagcagcgcc ctggccatcg
     2641 tggggagccc taatagccca tatggggacg tgattggcct ccaggtggac tactggctgg
     2701 gccaccccgg ggagcggagg agggaaggcg acaagaggga cgccagctcg aagaacaccc
     2761 tcaagagtgt cttccgctca gtgcaggtgt cccgcctgcc ccatagtggg gaggcccagc
     2821 tttctggcac catggccatg actgtggtca ccaaagaaaa gaacaagaaa gttcccacca
     2881 tcttcctgag caagaaaccc cgagaaaagg aggtggattc taagagccag gtcattgaag
     2941 gcatcagccg cctcatctgc tcagccaagc agcagcagac tatgctgaga gtgtccatcg
     3001 atggggtcga gtggagtgac atcaagttct tccagctggc agcccagtgg cccacccatg
     3061 tcaagcactt tccagtggga ctcttcagtg gcagcaaggc cacctgaggc cctgtctccc
     3121 agccactttc cctcctggca ctgccaccag cctcaccgcc tgcgggcagg gggaggccag
     3181 caggcccggg cccagcaccc cttccctggc accagggtct gcctctcact cgcccaggtc
     3241 ccgaaggaca ctgccacagg gacgccttcc ctcccctccc ctccagccca cccctgcaca
     3301 gcccctcctc cttcccgctt ttccccttct ccctcctgct ccaggcccaa ggcgtgttgg
     3361 ttttgccttc tggtgcccat agtcccctgg actgagtccc ccaggccttc cttcacccga
     3421 cttccaaact cttccttgtg gtatcagttt ccttctcgga aatgagaaag ctggaatcct
     3481 ggtccccagc aggagagcct agtcctcccc cagcccctcc agccaccagg gtgtcctcta
     3541 ggatgcagct gccagatcca ctcactctgc tgcctccagc aggacccaag gccactttca
     3601 actcttatgg ggttctccac ctgccccaga gcttctcaag ggagggtaag ggggcaccct
     3661 gagcccacag gacccctact tcacagctca caggggcagg aggcagctcc cctgcctcca
     3721 ggaccctgtt gctatggtga cacagcgttt ctaggacaga ggggcctccc agtctccccc
     3781 caccacccgt gcacgacttc ctcaccaccc ccaggttccc tgcagatgtc gtgtgtgtcc
     3841 tgagtgtttc tttggttctt tgcacgccaa gtctcttggt tgtaccatgt gacacaccct
     3901 gtgcactggt cgctgtcttc gtggcttcca cccttgttaa tgatgctcct gcctctgcct
     3961 cccagcccct cacccagcac agctctgcct ggacttggag agatgggagg cagaccccca
     4021 ccaccataca tgctgtctgt ggcccctcag acattctgtt tcatctccca ttcatctccc
     4081 tcctcccacc gtgtcagttt ttctgccttt ccctgctctg ttcttccccc tccttaggcc
     4141 ccagcctggg cccagaccca tcctcccagc caggtttccc tccagcaggc tccttccctc
     4201 cctgtcacct ccctctcacc aacccggggt ctgagcccct cattcctgac cgtccgtgtt
     4261 ctcaggagtg gttgaggaca cagggcccca gcccagccct ctgcaccccc cagcccggcc
     4321 atctgcgccc cacagcccct ttggagcttt tctcttgtcc tctcactcct tcccagaagt
     4381 ttttgcacag aacttcattt tgaaagtgtt tttctcattc tccatacctc ccccaagctc
     4441 tcctccagcc cttcccaggg ctcagccctg ctgtcctgag cgtctcctgg gccagagaga
     4501 ggagatgggg gtgggaggga ctgagttgat gttgggtttt tcattcaata aattggtgat
     4561 ttcttaccga c
//
