LOCUS       NM_018268               3678 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens WD repeat domain 41 (WDR41), mRNA.
ACCESSION   NM_018268
VERSION     NM_018268.4
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 3678)
  AUTHORS   Talaia,G., Amick,J. and Ferguson,S.M.
  TITLE     Receptor-like role for PQLC2 amino acid transporter in the
            lysosomal sensing of cationic amino acids
  JOURNAL   Proc Natl Acad Sci U S A 118 (8) (2021)
   PUBMED   33597295
  REMARK    GeneRIF: Receptor-like role for PQLC2 amino acid transporter in the
            lysosomal sensing of cationic amino acids.
REFERENCE   2  (bases 1 to 3678)
  AUTHORS   Su,M.Y., Fromm,S.A., Zoncu,R. and Hurley,J.H.
  TITLE     Structure of the C9orf72 ARF GAP complex that is haploinsufficient
            in ALS and FTD
  JOURNAL   Nature 585 (7824), 251-255 (2020)
   PUBMED   32848248
  REMARK    GeneRIF: Structure of the C9orf72 ARF GAP complex that is
            haploinsufficient in ALS and FTD.
REFERENCE   3  (bases 1 to 3678)
  AUTHORS   Wang,H., Wu,D., Cai,L., Li,X., Zhang,Z. and Chen,S.
  TITLE     Aberrant methylation of WD-repeat protein 41 contributes to tumour
            progression in triple-negative breast cancer
  JOURNAL   J Cell Mol Med 24 (12), 6869-6882 (2020)
   PUBMED   32394588
  REMARK    GeneRIF: Aberrant methylation of WD-repeat protein 41 contributes
            to tumour progression in triple-negative breast cancer.
REFERENCE   4  (bases 1 to 3678)
  AUTHORS   Tang,D., Sheng,J., Xu,L., Zhan,X., Liu,J., Jiang,H., Shu,X.,
            Liu,X., Zhang,T., Jiang,L., Zhou,C., Li,W., Cheng,W., Li,Z.,
            Wang,K., Lu,K., Yan,C. and Qi,S.
  TITLE     Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP
            for Rab8a and Rab11a
  JOURNAL   Proc Natl Acad Sci U S A 117 (18), 9876-9883 (2020)
   PUBMED   32303654
  REMARK    GeneRIF: Our study not only illustrates the basis of
            C9ORF72-SMCR8-WDR41 complex assembly but also reveals the GAP
            activity of the C9ORF72-SMCR8 complex
REFERENCE   5  (bases 1 to 3678)
  AUTHORS   Amick,J., Tharkeshwar,A.K., Amaya,C. and Ferguson,S.M.
  TITLE     WDR41 supports lysosomal response to changes in amino acid
            availability
  JOURNAL   Mol Biol Cell 29 (18), 2213-2227 (2018)
   PUBMED   29995611
  REMARK    GeneRIF: Study reveals an essential role for WDR41 in supporting
            the regulated binding of C9orf72 to lysosomes and solidifies the
            requirement for a larger C9orf72 containing protein complex in
            coordinating lysosomal responses to changes in amino acid
            availability.
REFERENCE   6  (bases 1 to 3678)
  AUTHORS   Stein,J.L., Hibar,D.P., Madsen,S.K., Khamis,M., McMahon,K.L., de
            Zubicaray,G.I., Hansell,N.K., Montgomery,G.W., Martin,N.G.,
            Wright,M.J., Saykin,A.J., Jack,C.R. Jr., Weiner,M.W., Toga,A.W. and
            Thompson,P.M.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative Investigators
  TITLE     Discovery and replication of dopamine-related gene effects on
            caudate volume in young and elderly populations (N=1198) using
            genome-wide search
  JOURNAL   Mol Psychiatry 16 (9), 927-937 (2011)
   PUBMED   21502949
  REMARK    GeneRIF: The peak of association was found in and around two genes,
            WDR41 and PDE8B, involved in dopamine signaling and development.
REFERENCE   7  (bases 1 to 3678)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 3678)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3678)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   10 (bases 1 to 3678)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM818066.1, BC040241.1, BP276774.1, BG113002.1, CD656920.1 and
            BQ000743.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018268.3.
            
            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 :: SRR11853566.22396.1,
                                           SRR1803611.162783.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296679.9/ ENSP00000296679.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               BM818066.1         192-310
            120-1922            BC040241.1         96-1898
            1923-2446           BP276774.1         3-526
            2447-2811           BG113002.1         155-519
            2812-3150           CD656920.1         311-649
            3151-3678           BQ000743.1         18-545              c
FEATURES             Location/Qualifiers
     source          1..3678
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3-q14.1"
     gene            1..3678
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="WD repeat domain 41"
                     /db_xref="GeneID:55255"
                     /db_xref="HGNC:HGNC:25601"
                     /db_xref="MIM:617502"
     exon            1..147
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1476
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /codon_start=1
                     /product="WD repeat-containing protein 41"
                     /protein_id="NP_060738.2"
                     /db_xref="CCDS:CCDS4038.1"
                     /db_xref="GeneID:55255"
                     /db_xref="HGNC:HGNC:25601"
                     /db_xref="MIM:617502"
                     /translation="MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHD
                     IVRFLVQLDDYRFASAGDDGIVVVWNAQTGEKLLELNGHTQKITAIITFPSLESCEEK
                     NQLILTASADRTVIVWDGDTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNR
                     KLDLLCKTSHLSDTGISALVEIPKNCVVAAVGKELIIFRLVAPTEGSLEWDILEVKRL
                     LDHQDNILSLINVNDLSFVTGSHVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIK
                     LCQKSNDISIHHFTCDEENVFAAVGRGLYVYSLQMKRVIACQKTAHDSNVLHVARLPN
                     RQLISCSEDGSVRIWELREKQQLAAEPVPTGFFNMWGFGRVSKQASQPVKKQQENATS
                     CSLELIGDLIGHSSSVEMFLYFEDHGLVTCSADHLIILWKNGERESGLRSLRLFQKLE
                     ENGDLYLAV"
     exon            148..263
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            264..312
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            313..444
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            445..507
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            508..619
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            620..682
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            683..793
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            794..978
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1100
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1189
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1323
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..3678
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1491..1496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="hexamer: AATACA"
     polyA_site      1520
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="major polyA site"
     regulatory      1547..1552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="hexamer: AATATA"
     polyA_site      1572
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="major polyA site"
     regulatory      1672..1677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="hexamer: AATATA"
     polyA_site      1697
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
     regulatory      2348..2353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="hexamer: AATGAA"
     polyA_site      2367
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="major polyA site"
     regulatory      2790..2795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="hexamer: ATTAAA"
     polyA_site      2811
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
     polyA_site      3262
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
     regulatory      3646..3651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
                     /note="hexamer: ATTAAA"
     polyA_site      3678
                     /gene="WDR41"
                     /gene_synonym="MSTP048"
ORIGIN      
        1 agttgcgctg cagccgggga ggaaggagga ggccgagcct ggggcggagt ttgggctgac
       61 tggggctgga ccgggcaaga cgccgccgct gcccggatgt tgcgatggct gatcggggga
      121 ggccgagaac cgcagggact ggccgagaaa tctcctttac agacaatagg tgaagaacaa
      181 acccagaatc cctacactga actgctagta ctgaaggctc atcatgatat tgtacgattt
      241 ctggtacagt tagatgacta cagatttgca tctgctggtg atgatggaat tgtagttgtg
      301 tggaatgccc agacagggga aaaactttta gaactgaatg gacacactca aaagataaca
      361 gctattatta catttccttc cttggaatct tgtgaagaga aaaatcaact catcttgaca
      421 gcctctgctg atagaacagt tattgtgtgg gatggtgata ctaccagaca agttcagaga
      481 atatcatgct tccagtctac tgtaaagtgt ttaactgttc ttcagagact agatgtttgg
      541 ctttctggtg ggaatgacct gtgtgtgtgg aaccgaaaat tagatctcct gtgtaagact
      601 agccaccttt ctgatacagg tattagtgct ttggttgaaa tacctaagaa ctgtgttgtg
      661 gcagcagttg gcaaagaact gataattttc aggttggtag cacccacaga aggatcacta
      721 gaatgggata ttcttgaagt taagcgcctc cttgatcacc aggataatat tctctcattg
      781 attaatgtca atgatttgag ttttgtcacc ggctcccacg tcggagagct gatcatctgg
      841 gatgccctgg actggaccat gcaggcctat gaacgcaact tctgggaccc atctccacaa
      901 ctggacaccc aacaagaaat aaaactctgt caaaaatcaa atgacatttc tattcatcat
      961 ttcacatgtg atgaagagaa tgtatttgct gcagttggaa ggggtttata cgtgtatagc
     1021 cttcaaatga agcgtgtgat tgcctgccag aaaactgcac atgactccaa tgtcctgcac
     1081 gttgccagac ttccaaacag gcagttaatc tcatgctcag aagatggcag tgtacgcatt
     1141 tgggagttaa gagaaaaaca gcagcttgca gctgagcctg taccaacagg tttttttaac
     1201 atgtggggat ttggaagagt cagcaaacaa gccagccaac ctgttaaaaa gcagcaagaa
     1261 aatgctactt catgttcact ggagcttatt ggagatttga ttggacactc atcatctgtg
     1321 gagatgtttc tatactttga agatcatgga ctagtgacgt gctccgctga tcatctcatt
     1381 attttgtgga aaaatggaga gcgagaatct ggattgcgca gtttaagatt atttcaaaaa
     1441 ttagaggaga atggtgactt ataccttgct gtctagttta aggaattaaa aatacacatg
     1501 catgaacctt gaacatcaaa tatcgggtac tactctgaaa accattaata tattgatcac
     1561 ttaaattggt aatttttttt gtcagtccat aaaattctac atgtttaaat tttttgtgga
     1621 cctaccaacc aggaacatgt tgcttctcag gtcctagtat atcctccaaa gaatatacca
     1681 caagtttttc catttgactt tgagctgctg ttgaagtggt gagtgctgtg ttttgagctt
     1741 attttgaacc tagatccttg tgaaaggtac aaatagaggt aatagttaag ttatggcatt
     1801 tattagaagt tttattattt ggcttccttt agaattattg tgaagtttaa aaatagcctt
     1861 tctcctgcaa attttcctag tctttagtaa ctgttagtgt tctatatagc acaaacttga
     1921 atctctcagc caaaaaaggg aacatatata ctgtttaagt atggcaagtt ttctttggta
     1981 ccaatttgtt tagataattt taaaaatgtt ttttagttct agctactaaa acctgtatga
     2041 actcaaatgg ataggcatct tgtgagggtg tgtttttccc agtgtgaatt ggcttgaaga
     2101 gccatgggct aaatgggtac tagaacaaca actgcccctc atgtacgcca aggatgagct
     2161 ctagatcatt tgagaggcac agtgtttccg gagtcaggga ctgcagctga gcgcaactgc
     2221 cccatctgac cactgactca aatacgaact gcttgagaca gacttctttt atgtagttct
     2281 ttgcagtgtc cattgagaca ctataaccag ccttgtaaca atatgttttc tccttttggt
     2341 gctaaaaaat gaaaatatta gaaagtagtc tacacattaa agattgaaat tcttaaacta
     2401 ctgatgaaga aagggcaacg tgacagatgt tagcagactg acccttctta cagaaaacct
     2461 acagatttat ttgttcatta tacaaatata ctacaaatat accctaaagg gaatctccat
     2521 aagttctttt actagtttta gctttgacag ttgcttccac aactacctac aaagactgga
     2581 agagttaagg tcatctgagt agaccagtgg cataatgtta caaatgagga aactgaggcc
     2641 cagtgcagta aggccttgca attaaatctg tagtgcccag tatcaccaag cagctctaaa
     2701 aacaggaact gaagactgaa tgagaaaagg cttatatgac tactttaaat ccaaacaaca
     2761 ttgagtcatg aaaagttcta tggagaaata ttaaaactta agctacctca attacagaag
     2821 actttctccc attattcacg tgctttttcc tttagaaatt ctgcattggc ccatacattt
     2881 gtaaagttgt tttctgaagt tgtatgacac aagggagcca tagacttaac tgttttactt
     2941 cctagcctgt tctaggctag tattttgtga tagtaatcta ttcaaatgga gtggtagaaa
     3001 tcacatgaat tttggaagca aatggtaccg taagtaccac agcaaattcc ttctggtcat
     3061 tatacaggcg tacctcagag atactacagg ttaggtttca gaccacatca aaaaagcaac
     3121 tattgcaaat agagtgagtc acatctagtt tttggtttcc cagtgcctat aaaacttgtg
     3181 tttatactac agtcttaaat ttctaaaaaa tgtacatacc ttaagaatac tttattgcta
     3241 aaaaatgcta acaatcatct gagccttcag cgagtcataa tctttttgct ggtggagggt
     3301 cttgatactg ctggctgttg actaaggtgg ttactgaagg ttggggtggc tgtggcagtt
     3361 ccttaaaata agatagcgat gaagttttcc aaatcaattg acttcctttc acaaatgaga
     3421 tctctgtaac atgtaatact atttaatagc attttaccca cagtagaact tctttcaaaa
     3481 tttagagtct gtcatctcaa atcctgatgc tcctttatga actaagttta tagaatattc
     3541 taaatccttt gttgtcattt caactatgtt tacagcatct tcactgtgga aatgactgtc
     3601 tccagaaacc actttctata cacattctta agcaacttct catctattaa agtttgatca
     3661 tgagattaca gcaattca
//
