LOCUS       NM_001029896            1598 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens WD repeat domain 45 (WDR45), transcript variant 2,
            mRNA.
ACCESSION   NM_001029896
VERSION     NM_001029896.2
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 1598)
  AUTHORS   Garavaglia,B., Nasca,A., Mitola,S. and Ingrassia,R.
  TITLE     WDR45-dependent impairment of cell cycle in fibroblasts of patients
            with beta propeller protein-associated neurodegeneration (BPAN)
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (8), 119842 (2024)
   PUBMED   39265886
  REMARK    GeneRIF: WDR45-dependent impairment of cell cycle in fibroblasts of
            patients with beta propeller protein-associated neurodegeneration
            (BPAN).
REFERENCE   2  (bases 1 to 1598)
  AUTHORS   Gazit,I., Hecht,I., Weiner,C., Kotlyar,A., Almer,Z., Bakshi,E.,
            Or,L., Volkov,H., Feldman,B., Maharshak,I., Michelson,M.,
            Goldenberg-Cohen,N. and Pras,E.
  TITLE     Variants in the WDR45 Gene Within the OPA-2 Locus Associate With
            Isolated X-Linked Optic Atrophy
  JOURNAL   Invest Ophthalmol Vis Sci 64 (13), 17 (2023)
   PUBMED   37819743
  REMARK    GeneRIF: Variants in the WDR45 Gene Within the OPA-2 Locus
            Associate With Isolated X-Linked Optic Atrophy.
REFERENCE   3  (bases 1 to 1598)
  AUTHORS   Xiong,Q., Sun,H., Xing,W., Li,X., Chen,G., Zhao,Z., Wu,C. and Li,P.
  TITLE     WDR45 mutation dysregulates iron homeostasis by promoting the
            chaperone-mediated autophagic degradation of ferritin heavy chain
            in an ER stress/p38 dependent mechanism
  JOURNAL   Free Radic Biol Med 201, 89-97 (2023)
   PUBMED   36940732
  REMARK    GeneRIF: WDR45 mutation dysregulates iron homeostasis by promoting
            the chaperone-mediated autophagic degradation of ferritin heavy
            chain in an ER stress/p38 dependent mechanism.
REFERENCE   4  (bases 1 to 1598)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 1598)
  AUTHORS   Proikas-Cezanne,T., Waddell,S., Gaugel,A., Frickey,T., Lupas,A. and
            Nordheim,A.
  TITLE     WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein
            family, is aberrantly expressed in human cancer and is linked to
            starvation-induced autophagy
  JOURNAL   Oncogene 23 (58), 9314-9325 (2004)
   PUBMED   15602573
REFERENCE   6  (bases 1 to 1598)
  AUTHORS   Jeffries,T.R., Dove,S.K., Michell,R.H. and Parker,P.J.
  TITLE     PtdIns-specific MPR pathway association of a novel WD40 repeat
            protein, WIPI49
  JOURNAL   Mol Biol Cell 15 (6), 2652-2663 (2004)
   PUBMED   15020712
REFERENCE   7  (bases 1 to 1598)
  AUTHORS   Clark,A.G., Glanowski,S., Nielsen,R., Thomas,P.D., Kejariwal,A.,
            Todd,M.A., Tanenbaum,D.M., Civello,D., Lu,F., Murphy,B.,
            Ferriera,S., Wang,G., Zheng,X., White,T.J., Sninsky,J.J.,
            Adams,M.D. and Cargill,M.
  TITLE     Inferring nonneutral evolution from human-chimp-mouse orthologous
            gene trios
  JOURNAL   Science 302 (5652), 1960-1963 (2003)
   PUBMED   14671302
REFERENCE   8  (bases 1 to 1598)
  AUTHORS   Gregory,A., Kurian,M.A., Haack,T., Hayflick,S.J. and Hogarth,P.
  TITLE     Beta-Propeller Protein-Associated Neurodegeneration
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28211668
REFERENCE   9  (bases 1 to 1598)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
REFERENCE   10 (bases 1 to 1598)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ068083.1, AJ005897.1 and
            BC035979.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001029896.1.
            
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. This gene has a
            pseudogene at chromosome 4q31.3. Multiple alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene, but the biological validity and full-length nature of
            some variants have not been determined. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) has an alternate 5' UTR and
            lacks a 3-nt segment in the CDS, as compared to variant 1. The
            encoded isoform 2 thus lacks an internal amino acid, as compared to
            isoform 1.
            
            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 :: SRR3476690.981492.1,
                                           SRR3476690.14986.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376372.9/ ENSP00000365551.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                BQ068083.1         19-44
            27-1597             AJ005897.1         1-1571
            1598-1598           BC035979.1         2599-2599
FEATURES             Location/Qualifiers
     source          1..1598
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1598
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="WD repeat domain 45"
                     /db_xref="GeneID:11152"
                     /db_xref="HGNC:HGNC:28912"
                     /db_xref="MIM:300526"
     exon            1..137
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            138..209
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..1237
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="isoform 2 is encoded by transcript variant 2; WD
                     repeat domain, X-linked 1; neurodegeneration with brain
                     iron accumulation 4; neurodegeneration with brain iron
                     accumulation 5; WD repeat domain
                     phosphoinositide-interacting protein 4; WD45 repeat
                     protein interacting with phosphoinositides 4; WD
                     repeat-containing protein 45"
                     /codon_start=1
                     /product="WD repeat domain phosphoinositide-interacting
                     protein 4 isoform 2"
                     /protein_id="NP_001025067.1"
                     /db_xref="CCDS:CCDS35250.1"
                     /db_xref="GeneID:11152"
                     /db_xref="HGNC:HGNC:28912"
                     /db_xref="MIM:300526"
                     /translation="MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLD
                     HEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVLIWDDAREGKDSKEKLVLEFTFT
                     KPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLV
                     FPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIR
                     LFDTQSKEKLVELRRGTDPATLYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSA
                     LARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNVNSVIAICVDGTFHK
                     YVFTPDGNCNREAFDVYLDICDDDDF"
     exon            210..284
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            285..389
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            390..495
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            496..590
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            591..670
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            671..879
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            880..981
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1127
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1598
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1378..1383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="hexamer: AATAAA"
     polyA_site      1400
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="major polyA site"
     regulatory      1578..1583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="hexamer: AATAAA"
     polyA_site      1598
                     /gene="WDR45"
                     /gene_synonym="JM5; NBIA4; NBIA5; WDRX1; WIPI-4; WIPI4"
                     /note="major polyA site"
ORIGIN      
        1 aaacacccga gccgggctcc aaggcccggg aggtcagaaa accgggccgc gggcggcacc
       61 gacagctggg gcccgggtca gggacacgcg gaggtcaggc cggtgaaggc ggcaggaagc
      121 tggagcacga tcccaggagg aacaatcctg caccatgact caacagccac ttcgaggagt
      181 gaccagcctg cgtttcaacc aagaccaaag ctgcttttgc tgcgccatgg agacaggtgt
      241 gcgcatctac aacgtggagc ccttgatgga gaaggggcat ctggaccacg agcaggtggg
      301 cagcatgggc ttggtggaga tgctgcaccg ctccaacctt ctggccttgg tgggcggtgg
      361 tagtagtccc aagttctcag agatctcagt gctgatctgg gacgatgccc gggagggcaa
      421 ggactccaag gagaagctgg tgctggagtt caccttcacc aagccagtgc tttctgtgcg
      481 catgcgccat gacaagatcg tgatcgtgct gaagaaccgc atctatgtgt actccttccc
      541 cgacaatccc cgaaagctgt ttgagtttga tacccgggac aaccccaagg ggctctgtga
      601 cctctgcccc agcctggaga agcaactgct agtgttcccg ggacacaagt gtgggagtct
      661 gcaacttgtg gacctggcga gcacaaagcc tggcacctcg tctgctccat tcacgatcaa
      721 tgcacatcag agtgacatag cctgtgtgtc tctaaaccag ccaggcactg tagtggcctc
      781 agcctcccag aagggtaccc ttattcgcct ctttgacaca caatccaagg agaaactggt
      841 ggagctgcgc cgaggcactg accctgccac cctctactgc attaacttca gccacgactc
      901 ctccttcctc tgcgcttcca gtgataaggg tactgtccat atctttgctc tcaaggatac
      961 ccgcctcaac cgccgctccg cgctggctcg cgtgggcaag gtggggccta tgattgggca
     1021 gtacgtggac tctcagtgga gcctggcgag cttcactgtg cctgctgagt cagcttgcat
     1081 ctgcgccttc ggtcgcaata cttccaagaa cgtcaactct gtcattgcca tctgcgtaga
     1141 tgggaccttc cacaaatatg tcttcactcc tgatggaaac tgcaacagag aggctttcga
     1201 cgtgtacctt gacatctgtg atgatgatga cttttaagga ccctgggggc tgtgctaggg
     1261 acctgcagtg gcagaactgc agagctgagc cttggcagtg gggcgtgctt ggaagccacc
     1321 agccagcaag cattaatggg gctggtgccc actttccact cagcagagct atgtctaaat
     1381 aaagagctca cttcccccca gcacttcttg atgactgtgt gccccaaggg ccaggccaga
     1441 gacccaggaa ggcagcgacc ccttgggatc cctaacctgg aggaaattgc cagggaccca
     1501 gagggagtgc cctaatccaa cctggggatt ttttaaaagc ttcctaggaa gagatgatct
     1561 ccgatgtgat gaatacgaat aaaaggccct taatggca
//
