LOCUS       NM_019045               4114 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1,
            mRNA.
ACCESSION   NM_019045
VERSION     NM_019045.5
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 4114)
  AUTHORS   Accogli,A., Shakya,S., Yang,T., Insinna,C., Kim,S.Y., Bell,D.,
            Butov,K.R., Severino,M., Niceta,M., Scala,M., Lee,H.S., Yoo,T.,
            Stauffer,J., Zhao,H., Fiorillo,C., Pedemonte,M., Diana,M.C.,
            Baldassari,S., Zakharova,V., Shcherbina,A., Rodina,Y.,
            Fagerberg,C., Roos,L.S., Wierzba,J., Dobosz,A., Gerard,A.,
            Potocki,L., Rosenfeld,J.A., Lalani,S.R., Scott,T.M., Scott,D.,
            Azamian,M.S., Louie,R., Moore,H.W., Champaigne,N.L.,
            Hollingsworth,G., Torella,A., Nigro,V., Ploski,R., Salpietro,V.,
            Zara,F., Pizzi,S., Chillemi,G., Ognibene,M., Cooney,E., Do,J.,
            Linnemann,A., Larsen,M.J., Specht,S., Walters,K.J., Choi,H.J.,
            Choi,M., Tartaglia,M., Youkharibache,P., Chae,J.H., Capra,V.,
            Park,S.G. and Westlake,C.J.
  TITLE     Variants in the WDR44 WD40-repeat domain cause a spectrum of
            ciliopathy by impairing ciliogenesis initiation
  JOURNAL   Nat Commun 15 (1), 365 (2024)
   PUBMED   38191484
  REMARK    GeneRIF: Variants in the WDR44 WD40-repeat domain cause a spectrum
            of ciliopathy by impairing ciliogenesis initiation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4114)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 4114)
  AUTHORS   Lucken-Ardjomande Hasler,S., Vallis,Y., Pasche,M. and McMahon,H.T.
  TITLE     GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of
            E-cadherin, MMP14, and CFTR DeltaF508
  JOURNAL   J Cell Biol 219 (5) (2020)
   PUBMED   32344433
  REMARK    GeneRIF: GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent
            export of E-cadherin, MMP14, and CFTR DeltaF508.
REFERENCE   4  (bases 1 to 4114)
  AUTHORS   Walia,V., Cuenca,A., Vetter,M., Insinna,C., Perera,S., Lu,Q.,
            Ritt,D.A., Semler,E., Specht,S., Stauffer,J., Morrison,D.K.,
            Lorentzen,E. and Westlake,C.J.
  TITLE     Akt Regulates a Rab11-Effector Switch Required for Ciliogenesis
  JOURNAL   Dev Cell 50 (2), 229-246 (2019)
   PUBMED   31204173
REFERENCE   5  (bases 1 to 4114)
  AUTHORS   Mammoto,A., Sasaki,T., Kim,Y. and Takai,Y.
  TITLE     Physical and functional interaction of rabphilin-11 with mammalian
            Sec13 protein. Implication in vesicle trafficking
  JOURNAL   J Biol Chem 275 (18), 13167-13170 (2000)
   PUBMED   10747849
REFERENCE   6  (bases 1 to 4114)
  AUTHORS   Mammoto,A., Ohtsuka,T., Hotta,I., Sasaki,T. and Takai,Y.
  TITLE     Rab11BP/Rabphilin-11, a downstream target of rab11 small G protein
            implicated in vesicle recycling
  JOURNAL   J Biol Chem 274 (36), 25517-25524 (1999)
   PUBMED   10464283
REFERENCE   7  (bases 1 to 4114)
  AUTHORS   Zeng,J., Ren,M., Gravotta,D., De Lemos-Chiarandini,C., Lui,M.,
            Erdjument-Bromage,H., Tempst,P., Xu,G., Shen,T.H., Morimoto,T.,
            Adesnik,M. and Sabatini,D.D.
  TITLE     Identification of a putative effector protein for rab11 that
            participates in transferrin recycling
  JOURNAL   Proc Natl Acad Sci U S A 96 (6), 2840-2845 (1999)
   PUBMED   10077598
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX470418.1, BX538087.1,
            AL391803.14 and BC028697.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_019045.4.
            
            Summary: This gene encodes a protein that interacts with the small
            GTPase rab11. A similar protein in rat binds the GTP-containing
            active form of rab11. This protein may play a role in endosome
            recycling. Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX537578.1, SRR1660809.53771.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254029.8/ ENSP00000254029.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                BX470418.1         35-60
            27-1388             BX538087.1         2-1363
            1389-1389           AL391803.14        48755-48755
            1390-4085           BX538087.1         1365-4060
            4086-4114           BC028697.2         4055-4083
FEATURES             Location/Qualifiers
     source          1..4114
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..4114
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /note="WD repeat domain 44"
                     /db_xref="GeneID:54521"
                     /db_xref="HGNC:HGNC:30512"
                     /db_xref="MIM:301070"
     exon            1..475
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     CDS             399..3140
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     rab11-binding protein; rabphilin-11"
                     /codon_start=1
                     /product="WD repeat-containing protein 44 isoform 1"
                     /protein_id="NP_061918.3"
                     /db_xref="CCDS:CCDS14572.1"
                     /db_xref="GeneID:54521"
                     /db_xref="HGNC:HGNC:30512"
                     /db_xref="MIM:301070"
                     /translation="MASESDTEEFYDAPEDVHLGGGYPVGSPGKVGLSTFKETENTAY
                     KVGNESPVQELKQDVSKKIIESIIEESQKVLQLEDDSLDSKGKELSDQATASPIVART
                     DLSNIPGLLAIDQVLPEESQKAESQNTFEETELELKKCFPSDETCEKPVDETTKLTQT
                     SSTEQLNVLETETEVLNKEAVEVKGGGDVLEPVSSDSLSTKDFAAVEEVAPAKPPRHL
                     TPEPDIVASTKKPVPARPPPPTNFPPPRPPPPSRPAPPPRKRKSELEFETLKTPDIDV
                     PKENITSDSLLTASMASESTVKDSQPSLDLASATSGDKIVTAQENGKAPDGQTVAGEV
                     MGPQRPRSNSGRELTDEEILASVMIKNLDTGEEIPLSLAEEKLPTGINPLTLHIMRRT
                     KEYVSNDAAQSDDEEKLQSQPTDTDGGRLKQKTTQLKKFLGKSVKRAKHLAEEYGERA
                     INKVKSVRDEVFHTDQDDPSSSDDEGMPYTRPVKFKAAHGFKGPYDFDQIKVVQDLSG
                     EHMGAVWTMKFSHCGRLLASAGQDNVVRIWALKNAFDYFNNMRMKYNTEGRVSPSPSQ
                     ESLSSSKSDTDTGVCSGTDEDPDDKNAPFRQRPFCKYKGHTADLLDLSWSKNYFLLSS
                     SMDKTVRLWHISRRECLCCFQHIDFVTAIAFHPRDDRYFLSGSLDGKLRLWNIPDKKV
                     ALWNEVDGQTKLITAANFCQNGKYAVIGTYDGRCIFYDTEHLKYHTQIHVRSTRGRNK
                     VGRKITGIEPLPGENKILVTSNDSRIRLYDLRDLSLSMKYKGYVNSSSQIKASFSHDF
                     TYLVSGSEDKYVYIWSTYHDLSKFTSVRRDRNDFWEGIKAHNAVVTSAIFAPNPSLML
                     SLDVQSEKSEGNEKSEDAEVLDATPSGIMKTDNTEVLLSADFTGAIKVFVNKRKNVS"
     exon            476..509
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            510..584
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            585..1224
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1355
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1451
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1588
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1672
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1673..1779
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..1931
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1932..2070
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2071..2135
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2136..2249
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2250..2372
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2373..2564
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2565..2666
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2667..2782
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2783..2910
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2911..3045
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     exon            3046..4114
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4070..4075
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /note="hexamer: ATTAAA"
     regulatory      4084..4089
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /note="hexamer: ATTAAA"
     polyA_site      4090
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
                     /note="major polyA site"
     polyA_site      4114
                     /gene="WDR44"
                     /gene_synonym="RAB11BP; RPH11; SYM-4"
ORIGIN      
        1 ggtattttgc gggcaactag ctcttccagc tgctgtaaat tgctgctgcg ggagaaactg
       61 gagccgctgt agccggcgcg cccttcttcc cttactgcga ggagccaccg cctctttcgc
      121 gctccttata cacctatcac tgggagcggt ggcagcaaca ttccctggac caaccgccgc
      181 ctcttcaggc ggccgctttg ccggtcattc ccgaagcccg gcaactgagg gcggccccct
      241 ttccttaaca gtctcctcgc tacagatcgt ctgctccctc agcctcgccc gagacccact
      301 tccccagtct cgcccgggtg gaggtcgacg aggaggagac aagagtcacc cttcctccag
      361 gcggcgccgg ccccctcacc cgcgggtgtg tcctataaat ggcgtcggaa agcgacaccg
      421 aggaattcta tgatgcccct gaagatgtgc acctaggggg cggctacccc gtggggtctc
      481 caggaaaagt tgggctttca acattcaagg aaacagagaa cactgcatac aaagttggaa
      541 atgagtcccc tgtacaagaa ttgaaacaag atgtgtctaa aaagattatt gaaagtatta
      601 ttgaggagag tcagaaagta ctacagcttg aagatgactc tttggattcc aaaggaaaag
      661 aactctctga tcaagctact gccagtccta ttgtggctag aacagatctg agcaatatac
      721 ccggactgtt agccatagat caagtactac cggaagaatc ccaaaaggca gagagtcaga
      781 atacatttga agagactgaa ttagaattaa aaaaatgctt tccttctgat gaaacctgtg
      841 agaaaccagt agatgaaacc acgaagttaa ctcaaacaag ttcaactgag cagcttaatg
      901 tgcttgaaac tgaaacagaa gtattgaaca aggaagcagt ggaagtcaaa ggaggtggtg
      961 atgttttaga gcctgtgtcc tcagactcct tatctactaa agattttgcc gctgtggaag
     1021 aagtggcccc tgccaaaccc ccaagacacc ttactccaga gcctgatata gtggctagta
     1081 caaagaagcc tgttccagca cgcccacctc ctccaactaa tttcccacct cctagacccc
     1141 cacctccttc tcgacctgct ccaccaccaa gaaaaaggaa aagcgaattg gaatttgaga
     1201 ctctgaaaac tcctgatata gatgttccca aagagaatat tacgtctgat tctctcctaa
     1261 ccgcaagcat ggcttcagaa agtacggtta aggattctca gccttctctt gatttggcaa
     1321 gtgctaccag tggagataaa atagttaccg cccaggaaaa tggaaaagca cctgatgggc
     1381 agactgtagc aggtgaagtg atgggccctc agagacctag atccaactct gggagagagc
     1441 ttactgatga ggaaatttta gccagtgtaa tgattaagaa cctggatact ggagaagaaa
     1501 tacctttgag tcttgcagaa gagaaactac caacaggcat taatcctctc actctacaca
     1561 tcatgagaag gacaaaagaa tatgtaagta atgacgcggc acagtcagat gatgaagaga
     1621 agttacagtc tcagccaaca gatactgatg gtggaaggtt aaaacagaaa acgactcaac
     1681 taaagaagtt tcttggaaaa tcagtaaaga gagcaaagca ccttgctgag gaatatggtg
     1741 aacgtgctat aaataaagtt aaaagtgtta gagatgaagt gtttcatact gatcaagatg
     1801 atccttcatc aagtgatgat gaaggaatgc catacacaag accagttaaa ttcaaagcag
     1861 cacacggttt caaaggacct tatgattttg atcagatcaa agtggtgcaa gatcttagtg
     1921 gtgaacatat gggagctgtt tggaccatga aattttctca ctgtggccga ttacttgcct
     1981 cagctggaca agacaatgta gtgagaatat gggctttaaa aaatgctttt gactatttca
     2041 acaatatgcg aatgaaatac aatactgaag gacgtgtgtc cccatcaccc tctcaggaaa
     2101 gtctaagttc atcaaaatcg gatacagata caggggtatg cagtggaact gatgaagacc
     2161 ctgatgataa aaacgcaccc tttcggcaac ggccattttg caaatataaa ggacatactg
     2221 ctgatctcct tgatctttca tggtctaaaa actactttct tctttcttct tcaatggata
     2281 aaacagtcag attatggcac atttctcgaa gagaatgcct ttgctgtttt caacatatag
     2341 attttgtcac tgccatagct tttcatccaa gagatgacag gtattttcta agtgggtctt
     2401 tggatggaaa gctccgcctt tggaacatac ctgacaaaaa agtggctttg tggaatgaag
     2461 tagatggtca gacaaaattg atcacagctg caaatttctg tcagaatggc aaatatgcag
     2521 tgattgggac atatgatggc agatgtattt tctatgatac agagcatttg aaataccata
     2581 cacaaataca tgtccgatct actagagggc gcaacaaggt tggaagaaaa attactggca
     2641 ttgagccttt acctggagaa aataagatat tggtaacctc aaatgactcc agaatcagac
     2701 tatatgattt gagagatttg tcactatcca tgaagtataa gggttacgtc aatagcagca
     2761 gccagatcaa agcaagtttc agccatgatt ttacttacct cgttagtggt tcagaagata
     2821 agtatgttta tatctggagt acctaccatg acctaagcaa gtttacttca gtcaggagag
     2881 atcgtaatga cttctgggaa ggtattaaag cccacaatgc agttgttaca tcagccatct
     2941 ttgcaccaaa cccaagtttg atgttatctt tggatgtgca atctgaaaaa tcagaaggga
     3001 acgagaaaag tgaagatgct gaagttttgg atgccacacc ttctggtatt atgaagacag
     3061 ataacacaga agttcttctc tctgctgact tcactggagc aatcaaagtg tttgttaata
     3121 aaagaaaaaa tgtatcttaa tttgaaatgg catttaaaat aaacatatca gtaagtttct
     3181 atatgtatca aaactgaaaa aatagtgttc caggctaaca tactttttta atttttattg
     3241 aaagttgttc aaatataata tattttttga gaggcagtgt taatgatcta ggaaaccctg
     3301 ggctgataga gtagaaagga atatggctag aataacattg ccaaacatta ggctttatgt
     3361 tttgttatgt ttgtgttttc gttgtataat tatgaacatg cacaagtttc tgcatgaaaa
     3421 gatattaata tattaatcac atgtatgtgc cttttggtta catgcattaa atctaacaga
     3481 gttaaattat ttcagtggct cttttggcct cttactaggg gggatagtct tgtttctagc
     3541 ttaaacaatt ttttttttgc acaaaatttc atttttaata aaagtggtat cttttgactg
     3601 agttattgtt ttgaaaatgg tatataggtt tccagtaggt caacaaccat atgtaaatgg
     3661 tttttataaa tttctcaatt tggggacaag atttttttgt ggtctaaatt gtgggcttaa
     3721 gattcttttc tttatatgtg tacatataat ttttttttct ttgccacact ggagcacaat
     3781 gtttctatgt aaagaattat tttcattctt tatccatgag caccaggctt tgctcactta
     3841 aaaaaaaatt aagccacatt aaggagtgag tcttcttttt tacaataatg taaaaattaa
     3901 actgtttaca tttttttaaa gcattgtagt ttttaaaaat taagctgttt tgttttgtgt
     3961 tgttgaattt gaaagccttt gtaaatatca atataatgta ccaatgaaat aacatctggg
     4021 gcaatgaaac cctgatcatg ttgttgatgg ttagcatatg tttctgaaaa ttaaatatgt
     4081 attattaaaa gttggtctcc aacacttgtt taaa
//
