LOCUS       NM_001378090            1842 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens WASH complex subunit 1 (WASHC1), transcript variant 2,
            mRNA.
ACCESSION   NM_001378090
VERSION     NM_001378090.1
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 1842)
  AUTHORS   Hong,Y., Sun,H., Hong,X., Yang,C.P., Billadeau,D.D., Wang,T. and
            Deng,Z.H.
  TITLE     WASHC1 interacts with MCM2-7 complex to promote cell survival under
            replication stress
  JOURNAL   Mol Biol Rep 49 (9), 8349-8357 (2022)
   PUBMED   35733063
  REMARK    GeneRIF: WASHC1 interacts with MCM2-7 complex to promote cell
            survival under replication stress.
REFERENCE   2  (bases 1 to 1842)
  AUTHORS   MacDonald,E., Brown,L., Selvais,A., Liu,H., Waring,T., Newman,D.,
            Bithell,J., Grimes,D., Urbe,S., Clague,M.J. and Zech,T.
  TITLE     HRS-WASH axis governs actin-mediated endosomal recycling and cell
            invasion
  JOURNAL   J Cell Biol 217 (7), 2549-2564 (2018)
   PUBMED   29891722
  REMARK    GeneRIF: In this study, we uncover an alternative role for the
            ESCRT-0 component hepatocyte growth factor-regulated tyrosine
            kinase substrate (HRS) in promoting the constitutive recycling of
            transmembrane proteins. We find that endosomal localization of the
            actin nucleating factor Wiscott-Aldrich syndrome protein and SCAR
            homologue (WASH) requires HRS, which occupies adjacent endosomal
            subdomains
REFERENCE   3  (bases 1 to 1842)
  AUTHORS   Turk,M., Schroder,R., Khuller,K., Hofmann,A., Berwanger,C.,
            Ludolph,A.C., Dekomien,G., Muller,K., Weishaupt,J.H., Thiel,C.T.
            and Clemen,C.S.
  TITLE     Genetic analysis of VCP and WASH complex genes in a German cohort
            of sporadic ALS-FTD patients
  JOURNAL   Neurobiol Aging 56, 213 (2017)
   PUBMED   28551275
  REMARK    GeneRIF: Its mutation is not found in a cohort of German patients
            with sporadic amyotrophic lateral sclerosis and frontotemporal
            lobar degeneration comorbidity.
REFERENCE   4  (bases 1 to 1842)
  AUTHORS   Xia,P., Liu,J., Wang,S., Ye,B., Du,Y., Xiong,Z., Han,Z.G., Tong,L.
            and Fan,Z.
  TITLE     WASH maintains NKp46+ ILC3 cells by promoting AHR expression
  JOURNAL   Nat Commun 8, 15685 (2017)
   PUBMED   28589939
  REMARK    GeneRIF: WASH-mediated AHR expression has a critical function in
            the maintenance of NKp46+ innate lymphoid cells
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1842)
  AUTHORS   Gokhale,A., Hartwig,C., Freeman,A.H., Das,R., Zlatic,S.A.,
            Vistein,R., Burch,A., Carrot,G., Lewis,A.F., Nelms,S.,
            Dickman,D.K., Puthenveedu,M.A., Cox,D.N. and Faundez,V.
  TITLE     The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin
            Polymerization Complex to Function Downstream of the Schizophrenia
            Susceptibility Factor Dysbindin at the Synapse
  JOURNAL   J Neurosci 36 (49), 12393-12411 (2016)
   PUBMED   27927957
REFERENCE   6  (bases 1 to 1842)
  AUTHORS   Derivery,E., Sousa,C., Gautier,J.J., Lombard,B., Loew,D. and
            Gautreau,A.
  TITLE     The Arp2/3 activator WASH controls the fission of endosomes through
            a large multiprotein complex
  JOURNAL   Dev Cell 17 (5), 712-723 (2009)
   PUBMED   19922875
REFERENCE   7  (bases 1 to 1842)
  AUTHORS   Gomez,T.S. and Billadeau,D.D.
  TITLE     A FAM21-containing WASH complex regulates retromer-dependent
            sorting
  JOURNAL   Dev Cell 17 (5), 699-711 (2009)
   PUBMED   19922874
  REMARK    GeneRIF: WASH exists in a multiprotein complex containing FAM21,
            which links WASH to endosomes and is required for WASH-dependent
            retromer-mediated sorting.
REFERENCE   8  (bases 1 to 1842)
  AUTHORS   Linardopoulou,E.V., Parghi,S.S., Friedman,C., Osborn,G.E.,
            Parkhurst,S.M. and Trask,B.J.
  TITLE     Human subtelomeric WASH genes encode a new subclass of the WASP
            family
  JOURNAL   PLoS Genet 3 (12), e237 (2007)
   PUBMED   18159949
REFERENCE   9  (bases 1 to 1842)
  AUTHORS   Wong,A., Vallender,E.J., Heretis,K., Ilkin,Y., Lahn,B.T.,
            Martin,C.L. and Ledbetter,D.H.
  TITLE     Diverse fates of paralogs following segmental duplication of
            telomeric genes
  JOURNAL   Genomics 84 (2), 239-247 (2004)
   PUBMED   15233989
REFERENCE   10 (bases 1 to 1842)
  AUTHORS   Ciccodicola,A., D'Esposito,M., Esposito,T., Gianfrancesco,F.,
            Migliaccio,C., Miano,M.G., Matarazzo,M.R., Vacca,M., Franze,A.,
            Cuccurese,M., Cocchia,M., Curci,A., Terracciano,A., Torino,A.,
            Cocchia,S., Mercadante,G., Pannone,E., Archidiacono,N., Rocchi,M.,
            Schlessinger,D. and D'Urso,M.
  TITLE     Differentially regulated and evolved genes in the fully sequenced
            Xq/Yq pseudoautosomal region
  JOURNAL   Hum Mol Genet 9 (3), 395-401 (2000)
   PUBMED   10655549
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL928970.15.
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            inferred exon combination        :: based on alignments, homology
            MANE Ensembl match               :: ENST00000696149.1/
                                                ENSP00000512441.1
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AL928970.15        19312-19456         c
            146-299             AL928970.15        14851-15004         c
            300-411             AL928970.15        8381-8492           c
            412-558             AL928970.15        8028-8174           c
            559-695             AL928970.15        7719-7855           c
            696-831             AL928970.15        7344-7479           c
            832-1033            AL928970.15        6965-7166           c
            1034-1192           AL928970.15        6718-6876           c
            1193-1345           AL928970.15        5909-6061           c
            1346-1414           AL928970.15        5081-5149           c
            1415-1842           AL928970.15        4513-4940           c
FEATURES             Location/Qualifiers
     source          1..1842
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     gene            1..1842
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /note="WASH complex subunit 1"
                     /db_xref="GeneID:100287171"
                     /db_xref="HGNC:HGNC:24361"
                     /db_xref="MIM:613632"
     exon            1..145
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            146..299
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             151..1548
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /note="family with sequence similarity 39, member E;
                     FLJ00075 protein; CXYorf1-like protein on chromosome 9;
                     WAS protein family homolog 1; actin nucleation promoting
                     factor"
                     /codon_start=1
                     /product="WASH complex subunit 1"
                     /protein_id="NP_001365019.1"
                     /db_xref="CCDS:CCDS78375.1"
                     /db_xref="GeneID:100287171"
                     /db_xref="HGNC:HGNC:24361"
                     /db_xref="MIM:613632"
                     /translation="MTPVRMQHSLAGQTYAVPFIQPDLRREEAVQQMADALQYLQKVS
                     GDIFSRISQQVEQSRSQVQAIGEKVSLAQAKIEKIKGSKKAIKVFSSAKYPAPGRLQE
                     YGSIFTGAQDPGLQRRPRHRIQSKHRPLDERALQEKLKDFPVCVSTKPEPEDDAEEGL
                     GGLPSNISSVSSLLLFNTTENLYKKYVFLDPLAGAVTKTHVMLGAETEEKLFDAPLSI
                     SKREQLEQQVPENYFYVPDLGQVPEIHVPSYLPDLPGIANDLMYSADLGPGIAPSAPG
                     TIPELPTFHTEVAEPLKVDLQDGVLTPPPPPPPPPPAPEVLASAPPLPPSTAAPVGQG
                     ARQDDSSSSASPSVQGAPREVVDPSGGWATLLESIRQAGGIGKAKLRSMKERKLEKQQ
                     QKEQEQVRATSQGGHLMSDLFNKLVMRRKGISGKGPGAGEGPGGAFVRVSDSIPPLPP
                     PQQPQAEEDEDDWES"
     exon            300..411
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            412..558
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            559..695
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            696..831
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            832..1033
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1192
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1345
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1414
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1842
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1819..1824
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /note="hexamer: AATAAA"
     polyA_site      1842
                     /gene="WASHC1"
                     /gene_synonym="FAM39E; WASH; WASH1"
                     /note="major polyA site"
ORIGIN      
        1 ctgagcttga ggggaaggca gcgatgggac aaaggacgga ggtctaggaa gagggtctgc
       61 agagcagaaa gcacgggtag gggcggcctg acgctcggaa gacaacggat gggagccgtg
      121 tgcacgtcgg gagctcggag tgagcgcacc atgactcctg tgaggatgca gcactccctg
      181 gcaggtcaga cctatgccgt gcccttcatc cagccagacc tgcggcgaga ggaggccgtc
      241 cagcagatgg cggatgccct gcagtacctg cagaaggtct ctggagacat cttcagcagg
      301 atctcccagc aggtagagca gagccggagc caggtgcagg ccattggaga gaaggtctcc
      361 ttggcccagg ccaagattga gaagatcaag ggcagcaaga aggccatcaa ggtgttctcc
      421 agtgccaagt accctgctcc agggcgcctg caggaatatg gctccatctt cacgggcgcc
      481 caggaccctg gcctgcagag acgcccccgc cacaggatcc agagcaagca ccgccccctg
      541 gacgagcggg ccctgcagga gaagctgaag gactttcctg tgtgcgtgag caccaagccg
      601 gagcccgagg acgatgcaga agagggactt gggggtcttc ccagcaacat cagctctgtc
      661 agctccttgc tgctcttcaa caccaccgag aacctgtaca agaagtatgt cttcctggac
      721 cccctggctg gtgctgtaac aaagacccat gtgatgctgg gggcagagac agaggagaag
      781 ctgtttgatg cccccttgtc catcagcaag agagagcagc tggaacagca ggtcccagag
      841 aactacttct atgtgccaga cctgggccag gtgcctgaga tccatgttcc atcctacctg
      901 cctgacctgc ccggcattgc caacgacctc atgtacagtg ccgacctggg ccccggcatt
      961 gccccctctg cccctggcac cattccagaa ctgcccacct tccacactga ggtagccgag
     1021 cctctcaagg tagacctaca agatggggta ctaacaccac ccccaccgcc cccaccacca
     1081 cccccagctc ctgaggtgct ggccagtgca cccccactcc caccctcaac cgcggcccct
     1141 gtaggccaag gcgccaggca ggacgacagc agcagcagcg catctccttc agtccaggga
     1201 gctcccaggg aagtggtcga cccctccggt ggctgggcca ctctgctaga gtccatccgc
     1261 caagctgggg gcatcggcaa ggccaagctg cgcagcatga aggagcgaaa gctggagaag
     1321 cagcagcaga aggagcagga gcaagtgaga gccacgagcc aaggtgggca cttgatgtcg
     1381 gatctcttca acaagctggt catgaggcgc aagggcatct ctgggaaagg acctggggct
     1441 ggtgaggggc ccggaggagc ctttgtccgc gtgtcagact ccatccctcc tttgccgcca
     1501 ccgcagcagc cacaggcaga ggaggacgag gacgactggg aatcgtaggg ggctccatga
     1561 caccttcccc cccagaccca gacttgggcc gttgctctga catggacaca gccaggacaa
     1621 gctgctcaga cctgcttccc tgggaggggg tgacggaacc agcagtgtgt ggagaccagc
     1681 ttcaaggagc ggaaggctgg cttgaggcca cacagctggg gcggggactt gtctgcctgt
     1741 acttcatggg gggacggctc cacccagcct gcgccactgt gttcttaaga ggcttccaga
     1801 gaaaacggca caccaatcaa taaagaactg agcagaaacc aa
//
