LOCUS       NM_019613               2496 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens WD repeat domain 45B (WDR45B), mRNA.
ACCESSION   NM_019613
VERSION     NM_019613.4
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 2496)
  AUTHORS   Zhang,J., Lu,Y., Tian,X., Men,X., Zhang,Y., Yan,H., Yang,F.,
            Yang,Z. and Wang,X.
  TITLE     A homozygous variant of WDR45B results in global developmental
            delay: Additional case and literature review
  JOURNAL   Mol Genet Genomic Med 10 (10), e2036 (2022)
   PUBMED   35962600
  REMARK    GeneRIF: A homozygous variant of WDR45B results in global
            developmental delay: Additional case and literature review.
            Review article
REFERENCE   2  (bases 1 to 2496)
  AUTHORS   Cattin-Ortola,J., Welch,L.G., Maslen,S.L., Papa,G., James,L.C. and
            Munro,S.
  TITLE     Sequences in the cytoplasmic tail of SARS-CoV-2 Spike facilitate
            expression at the cell surface and syncytia formation
  JOURNAL   Nat Commun 12 (1), 5333 (2021)
   PUBMED   34504087
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2496)
  AUTHORS   Ji,C., Zhao,H., Chen,D., Zhang,H. and Zhao,Y.G.
  TITLE     beta-propeller proteins WDR45 and WDR45B regulate autophagosome
            maturation into autolysosomes in neural cells
  JOURNAL   Curr Biol 31 (8), 1666-1677 (2021)
   PUBMED   33636118
REFERENCE   4  (bases 1 to 2496)
  AUTHORS   Ren,J., Liang,R., Wang,W., Zhang,D., Yu,L. and Feng,W.
  TITLE     Multi-site-mediated entwining of the linear WIR-motif around WIPI
            beta-propellers for autophagy
  JOURNAL   Nat Commun 11 (1), 2702 (2020)
   PUBMED   32483132
  REMARK    GeneRIF: Multi-site-mediated entwining of the linear WIR-motif
            around WIPI beta-propellers for autophagy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2496)
  AUTHORS   Suleiman,J., Allingham-Hawkins,D., Hashem,M., Shamseldin,H.E.,
            Alkuraya,F.S. and El-Hattab,A.W.
  TITLE     WDR45B-related intellectual disability, spastic quadriplegia,
            epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental
            syndrome
  JOURNAL   Clin Genet 93 (2), 360-364 (2018)
   PUBMED   28503735
  REMARK    GeneRIF: WDR45B has been identified as a potential intellectual
            disability gene through genomic sequencing of 2 large cohorts of
            affected individuals. In this report we present 6 individuals from
            3 unrelated families with homozygous pathogenic variants in WDR45B:
            c.799C>T (p.Q267*) in 1 family and c.673C>T (p.R225*) in 2 families
REFERENCE   6  (bases 1 to 2496)
  AUTHORS   Bakula,D., Muller,A.J., Zuleger,T., Takacs,Z., Franz-Wachtel,M.,
            Thost,A.K., Brigger,D., Tschan,M.P., Frickey,T., Robenek,H.,
            Macek,B. and Proikas-Cezanne,T.
  TITLE     WIPI3 and WIPI4 beta-propellers are scaffolds for LKB1-AMPK-TSC
            signalling circuits in the control of autophagy
  JOURNAL   Nat Commun 8, 15637 (2017)
   PUBMED   28561066
  REMARK    GeneRIF: WIPI3 and WIPI4 beta-propellers have roles as scaffolds
            for LKB1-AMPK-TSC signalling circuits in the control of autophagy
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2496)
  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   8  (bases 1 to 2496)
  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   9  (bases 1 to 2496)
  AUTHORS   Almannai,M., Marafi,D. and El-Hattab,A.W.
  TITLE     El-Hattab-Alkuraya Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36173873
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN262716.1, AM182326.1,
            AC124283.11 and AA861045.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_019613.3.
            
            Summary: This gene encodes a member of the WIPI or SVP1 family of
            WD40 repeat-containing proteins. The protein contains seven WD40
            repeats that are thought to fold into a beta-propeller structure
            that mediates protein-protein interactions, and a conserved motif
            for interaction with phospholipids. The human genome contains
            several pseudogenes of this gene. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.317976.1,
                                           SRR3476690.253402.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392325.9/ ENSP00000376139.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-104               CN262716.1         92-195
            105-1276            AM182326.1         1-1172
            1277-2306           AC124283.11        105149-106178       c
            2307-2496           AA861045.1         10-199              c
FEATURES             Location/Qualifiers
     source          1..2496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2496
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /note="WD repeat domain 45B"
                     /db_xref="GeneID:56270"
                     /db_xref="HGNC:HGNC:25072"
                     /db_xref="MIM:609226"
     exon            1..171
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1139
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /note="WIPI49-like protein; WD repeat protein 45-like;
                     WDR45-like protein; WD repeat-containing protein 45-like;
                     WD repeat-containing protein 45B; WIPI3 long"
                     /codon_start=1
                     /product="WD repeat domain phosphoinositide-interacting
                     protein 3"
                     /protein_id="NP_062559.2"
                     /db_xref="CCDS:CCDS11815.2"
                     /db_xref="GeneID:56270"
                     /db_xref="HGNC:HGNC:25072"
                     /db_xref="MIM:609226"
                     /translation="MNLLPCNPHGNGLLYAGFNQDHGCFACGMENGFRVYNTDPLKEK
                     EKQEFLEGGVGHVEMLFRCNYLALVGGGKKPKYPPNKVMIWDDLKKKTVIEIEFSTEV
                     KAVKLRRDRIVVVLDSMIKVFTFTHNPHQLHVFETCYNPKGLCVLCPNSNNSLLAFPG
                     THTGHVQLVDLASTEKPPVDIPAHEGVLSCIALNLQGTRIATASEKGTLIRIFDTSSG
                     HLIQELRRGSQAANIYCINFNQDASLICVSSDHGTVHIFAAEDPKRNKQSSLASASFL
                     PKYFSSKWSFSKFQVPSGSPCICAFGTEPNAVIAICADGSYYKFLFNPKGECIRDVYA
                     QFLEMTDDKL"
     exon            172..246
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            247..348
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            349..436
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            437..531
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            532..722
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            723..808
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            809..910
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1032
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..2496
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /note="hexamer: AATAAA"
     polyA_site      2496
                     /gene="WDR45B"
                     /gene_synonym="NEDSBAS; WDR45L; WIPI-3; WIPI3"
                     /note="major polyA site"
ORIGIN      
        1 acttccggcc gcggcggcct cagcgccggc ccgaagggac caggccgccg tccccagcga
       61 gaggcatgca gcgctgagga gcggcgaccc agcacggcgg cgccatgaac ctcctgccgt
      121 gtaaccctca cggcaacggg ctgctctacg ccggcttcaa ccaggaccac ggatgctttg
      181 cgtgtgggat ggaaaatgga ttccgagtct ataacactga tccactaaaa gaaaaagaga
      241 aacaagaatt tctagaagga ggagttggcc atgttgaaat gttatttcgc tgcaactatt
      301 tagctttagt tggtggtgga aaaaagccga aataccctcc caacaaagta atgatctggg
      361 atgacctgaa gaagaagact gttattgaaa tagaattttc tacagaagtc aaggcagtca
      421 agctgcggcg agatagaatt gtggtggttt tggactccat gattaaggtg ttcacattca
      481 cacacaatcc ccatcagttg cacgtcttcg aaacctgcta taaccccaaa ggcctctgtg
      541 tcctttgtcc caatagtaac aactccctcc tggcctttcc gggcacgcac acgggccatg
      601 tgcagcttgt ggacctggcc agcacggaga agccacccgt ggacattcct gcacacgagg
      661 gtgtcctgag ctgcattgca ctcaacctgc agggaacaag aattgcaact gcatccgaga
      721 aagggacgct tataagaata tttgatactt catcagggca tttaatccag gaactgcgaa
      781 gaggatctca agcagccaat atttactgca tcaacttcaa tcaggatgcg tccctcatct
      841 gcgtatccag cgaccacggc acagtgcata tttttgcagc tgaagatcca aaaaggaata
      901 aacagtccag tttggcctca gccagtttcc ttccaaaata cttcagttcc aagtggagtt
      961 tctccaagtt tcaggttccc tcaggctctc cgtgcatttg tgcctttgga acagagccaa
     1021 acgccgtcat tgcaatttgt gcagacggca gctactacaa attcctgttc aaccccaagg
     1081 gggagtgcat ccgagatgtc tacgcgcagt ttctagagat gaccgatgac aagctgtgac
     1141 tccagctggg ggcgccacag cacccaccac ctgccgcctt cagactctcg gggctggtgc
     1201 cagtgcccca ggggcctcct gggccacggg ctggaggggc tgcccaggga ccttggtctc
     1261 gaagccatac gtggttgtct gctttcctaa ggactcccat ttccagtatt aaagagagaa
     1321 tcatcatcaa ggcaccgtag gtaactcagt ggctgtgacc agctcgactg gcggccactg
     1381 gctgttccca tgagttcagc tgtgacgtta gcttcagtgg ctccgccgca tcctcacact
     1441 gacgggggct ccatacggac ctggggactg ggctgagagg gtggacgagt tcaggtttgt
     1501 ttttgcagca gattccgtcg ttcttactga gtctgcagcg ggggagtgaa caagtgtgca
     1561 gatgtaagtt cttacatgat aagcagattg aatacaacac cagcagcttg ccttagaaaa
     1621 ggagaaagga attccttttc ccgcccgaac atgaagaaaa atgacctgac cctgtagaga
     1681 gaacacagtg tgaatgtttc ccctcgtgtg agcccagcct gtggtcttct ccgtacccgc
     1741 aacgtggtca tctgtgcccg tgacgtcacc tgtgcccgtg cgtggcgtcc ccgtctccgt
     1801 tggggccatt agaatgaggc agacaccagg ccactctaga agccgagccg tcacacctca
     1861 ggcgtgtgcg gggcggggac ggggggtctc ctggttacat tttggattaa acctgtttcc
     1921 cggttatgtg tagggaacag cagagtgatg cacgaacttt gaacattcgt tatggggaaa
     1981 acatccttta acttcggggt cgtctgccag agcagggtct gggagggtcc atgcagttcc
     2041 cgctggtgtg gagggaaatg ccctggtctg gcctccgagc ccccaggtcc accgtctccc
     2101 ctcccctcat ttgtaagaat agctacacac taacattttg ggaaggagag gcacataact
     2161 ttttttaaca tttggtaact aggttatggg ctctacattg tcagctactt gggatatata
     2221 tttaattttc ttaaattccc gttaaactct attttatggt tttgatttca gattgcaaac
     2281 atgtaaaacc tgcatagcag cgagttctcg gttttgccgg tttctttagt tctttactgt
     2341 cactgtcatg taatcagcta attctctgtg gatgttgctg taaagtatgc atgttccttt
     2401 catgtgtatt taatcatgat gtttaatttt gcacacttat ttgtaatgtt tcttttaaat
     2461 aaaagtgact aattttgttg tagtctggac ctgtaa
//
