LOCUS       NM_003611               3612 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens OFD1 centriole and centriolar satellite protein
            (OFD1), transcript variant 1, mRNA.
ACCESSION   NM_003611
VERSION     NM_003611.3
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 3612)
  AUTHORS   Kim,N.H., Lee,C.H. and Lee,A.Y.
  TITLE     Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell
            Adhesion to ECM via Paxillin
  JOURNAL   Int J Mol Sci 24 (24), 17528 (2023)
   PUBMED   38139355
  REMARK    GeneRIF: Extraciliary OFD1 Is Involved in Melanocyte Survival
            through Cell Adhesion to ECM via Paxillin.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3612)
  AUTHORS   Kumar,D., Rains,A., Herranz-Perez,V., Lu,Q., Shi,X., Swaney,D.L.,
            Stevenson,E., Krogan,N.J., Huang,B., Westlake,C.,
            Garcia-Verdugo,J.M., Yoder,B.K. and Reiter,J.F.
  TITLE     A ciliopathy complex builds distal appendages to initiate
            ciliogenesis
  JOURNAL   J Cell Biol 220 (9) (2021)
   PUBMED   34241634
  REMARK    GeneRIF: A ciliopathy complex builds distal appendages to initiate
            ciliogenesis.
REFERENCE   3  (bases 1 to 3612)
  AUTHORS   Senatore,E., Chiuso,F., Rinaldi,L., Intartaglia,D., Delle Donne,R.,
            Pedone,E., Catalanotti,B., Pirone,L., Fiorillo,B., Moraca,F.,
            Giamundo,G., Scala,G., Raffeiner,A., Torres-Quesada,O., Stefan,E.,
            Kwiatkowski,M., van Pijkeren,A., Morleo,M., Franco,B., Garbi,C.,
            Conte,I. and Feliciello,A.
  TITLE     The TBC1D31/praja2 complex controls primary ciliogenesis through
            PKA-directed OFD1 ubiquitylation
  JOURNAL   EMBO J 40 (10), e106503 (2021)
   PUBMED   33934390
REFERENCE   4  (bases 1 to 3612)
  AUTHORS   Feather,S.A., Woolf,A.S., Donnai,D., Malcolm,S. and Winter,R.M.
  TITLE     The oral-facial-digital syndrome type 1 (OFD1), a cause of
            polycystic kidney disease and associated malformations, maps to
            Xp22.2-Xp22.3
  JOURNAL   Hum Mol Genet 6 (7), 1163-1167 (1997)
   PUBMED   9215688
REFERENCE   5  (bases 1 to 3612)
  AUTHORS   Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   6  (bases 1 to 3612)
  AUTHORS   Alitalo,T., Francis,F., Kere,J., Lehrach,H., Schlessinger,D. and
            Willard,H.F.
  TITLE     A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2,
            PIGA, GRPR, CALB3, and PHKA2 genes
  JOURNAL   Genomics 25 (3), 691-700 (1995)
   PUBMED   7759104
REFERENCE   7  (bases 1 to 3612)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   8  (bases 1 to 3612)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 3612)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
REFERENCE   10 (bases 1 to 3612)
  AUTHORS   Franco,B., Bruel,A.L. and Thauvin-Robinet,C.
  TITLE     Oral-Facial-Digital Syndrome Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301367
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC003037.1, Y15164.1 and
            CB134304.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003611.2.
            
            Summary: This gene is located on the X chromosome and encodes a
            centrosomal protein. A knockout mouse model has been used to study
            the effect of mutations in this gene. The mouse gene is also
            located on the X chromosome, however, unlike the human gene it is
            not subject to X inactivation. Mutations in this gene are
            associated with oral-facial-digital syndrome type I and
            Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been
            identified; a single pseudogene is found on chromosome 5 while as
            many as fifteen have been found on the Y chromosome. [provided by
            RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR1803617.272710.1, Y15164.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340096.11/ ENSP00000344314.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC003037.1         37922-37934
            14-3608             Y15164.1           1-3595
            3609-3612           CB134304.1         536-539
FEATURES             Location/Qualifiers
     source          1..3612
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3612
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /note="OFD1 centriole and centriolar satellite protein"
                     /db_xref="GeneID:8481"
                     /db_xref="HGNC:HGNC:2567"
                     /db_xref="MIM:300170"
     exon            1..336
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             325..3363
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     oral-facial-digital syndrome 1 protein; protein 71-7A;
                     Joubert syndrome type 10; centriole and centriolar
                     satellite protein OFD1"
                     /codon_start=1
                     /product="centriole and centriolar satellite protein OFD1
                     isoform 1"
                     /protein_id="NP_003602.1"
                     /db_xref="CCDS:CCDS14157.1"
                     /db_xref="GeneID:8481"
                     /db_xref="HGNC:HGNC:2567"
                     /db_xref="MIM:300170"
                     /translation="MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQL
                     IHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAK
                     EKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNME
                     TQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQK
                     LKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQE
                     IETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFELNQKLQEEKHKSITEALRRQEQN
                     IKSFEETYDRKLKNELLKYQLELKDDYIIRTNRLIEDERKNKEKAVHLQEELIAINSK
                     KEELNQSVNRVKELELELESVKAQSLAITKQNHMLNEKVKEMSDYSLLKEEKLELLAQ
                     NKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAEKAIVVEHEEFESCRQALH
                     KQLQDEIEHSAQLKAQILGYKASVKSLTTQVADLKLQLKQTQTALENEVYCNPKQSVI
                     DRSVNGLINGNVVPCNGEISGDFLNNPFKQENVLARMVASRITNYPTAWVEGSSPDSD
                     LEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNSAKSPLAAKSPPSLHLLEAFKNI
                     TSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGSAASRLRGGTSSRRLSSTPLP
                     KAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRHSLSIPPVSSPPEQKVGLY
                     RRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEMGGLSPAGDMSHVDAAA
                     AAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSNLQEVLERERRELEK
                     LYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEKYMKIIQQEQDQE
                     SADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW"
     exon            337..435
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            436..636
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            637..705
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            706..736
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            737..841
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            842..978
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1152
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1259
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1379
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1453
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1545
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1735
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1736..1866
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..1978
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1979..2584
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2585..2711
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2712..2812
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2813..2923
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2924..3081
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            3082..3252
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            3253..3320
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     exon            3321..3612
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3458..3463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /note="hexamer: AATAAA"
     polyA_site      3479
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /note="major polyA site"
     regulatory      3587..3592
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
                     /note="hexamer: AATAAA"
     polyA_site      3612
                     /gene="OFD1"
                     /gene_synonym="71-7A; CXorf5; JBTS10; RP23; SGBS2"
ORIGIN      
        1 actggctgtg aggcggtcct gcctcgctgc cttcagtccc tagtgtctgg gtccccgccc
       61 tccagccgcc tttgagtcgt gcctgggtcc tcgcccttgc ctcagaaccg cgaagaaagg
      121 aagctcgcgt gtttgctaga aaacctagtt gggagtgcga ggcagagaac gttcagcacc
      181 tttgttcctc ccgaaccctc gggacagagg cagggttctg agggcaggga ttccccctcg
      241 tcttggcccc accgcccggg ctgggcacta aactcgggcc gcggcggggc gagcgaggcg
      301 ggctccggag ggagctgacg cctgatgatg gcgcagtcca acatgtttac cgtggctgat
      361 gtgttgagtc aagatgaact gcgcaaaaag ctataccaga cgtttaagga tcggggtata
      421 ctggatacac tcaagacaca acttcgaaac cagctaattc atgagttgat gcaccctgta
      481 ttgagtggag aactgcagcc tcggtccatt tcagtagaag ggagctccct cttaataggc
      541 gcctctaact ctttagtggc agatcactta caaagatgtg gctatgaata ttcactttct
      601 gttttctttc cagaaagtgg tttggcaaaa gaaaaggtat ttactatgca ggatctatta
      661 caactcatta aaatcaaccc tacttccagt ctctacaaat cactggtttc aggatctgat
      721 aaagaaaatc aaaaaggttt tcttatgcat tttttaaaag aattggcaga atatcatcaa
      781 gctaaagaga gttgtaatat ggaaactcag acaagttcga catttaacag agattctctg
      841 gctgagaagc ttcagcttat tgatgatcag tttgcagatg cttaccctca gcgtatcaag
      901 ttcgaatctt tagaaataaa gctaaatgag tataagagag aaatagaaga gcaacttcgg
      961 gcagaaatgt gtcaaaagtt gaagtttttt aaagataccg agatagcaaa aattaaaatg
     1021 gaagcaaaaa aaaagtatga aaaggagtta accatgttcc agaatgattt tgaaaaagct
     1081 tgtcaagcaa aatctgaagc tctcgttctt cgggaaaaga gtacccttga aagaattcac
     1141 aagcaccaag agattgaaac aaaagaaatt tatgctcaaa ggcaactttt actaaaagat
     1201 atggatttgc taagaggaag agaagcagag ctgaagcaaa gagttgaagc ttttgaattg
     1261 aaccagaagc tccaggaaga aaaacataaa agcataactg aggcacttag gagacaggag
     1321 cagaatataa agagttttga ggagacctat gaccgaaagc tcaagaatga acttctaaag
     1381 tatcaacttg aactgaagga tgactacatc attagaacta atcgactgat tgaagatgaa
     1441 aggaagaata aagaaaaagc tgttcatttg caagaggagc tcatagctat taattcaaaa
     1501 aaggaggaac tcaatcaatc tgtaaatcgt gtgaaagaac ttgagcttga attagagtct
     1561 gtcaaagccc agtctttggc aataacaaaa caaaaccata tgctgaatga aaaggttaaa
     1621 gagatgagtg attattcact actaaaagaa gagaaactgg agcttctggc acaaaataaa
     1681 ttacttaaac aacaactgga agagagtaga aatgaaaacc tgcgtctcct aaaccgccta
     1741 gctcagccgg ctcctgaact tgcagtcttt cagaaagaac tacggaaagc cgaaaaggct
     1801 atagtggttg agcatgagga gttcgaaagc tgcaggcaag ctctgcacaa acaactgcaa
     1861 gacgaaattg agcattctgc acagctgaag gcccagattc taggttacaa agcttctgta
     1921 aagagtttaa ctactcaggt tgccgattta aaattgcaac tgaagcaaac tcagacagcc
     1981 ctagagaatg aagtgtactg caatccaaag cagtctgtga tcgatcgttc tgtcaatgga
     2041 ttaataaatg gcaatgtggt gccttgcaat ggtgagataa gtggggattt cttgaacaat
     2101 ccttttaaac aggaaaacgt tctagcacgt atggttgcat caaggatcac aaattatcca
     2161 actgcatggg tggagggtag ttcccctgat tctgaccttg agtttgtagc caatactaag
     2221 gcaagggtca aagagcttca gcaagaggcc gaacgcttgg aaaaggcttt cagaagttac
     2281 catcggagag tcattaaaaa ctctgccaaa agcccactag cagcaaagag cccaccatct
     2341 ctgcacttgc tggaagcctt caaaaacatt acttccagtt ccccggaaag acatattttt
     2401 ggagaggaca gagttgtctc tgagcagcct caagtgggca cacttgaaga aaggaatgac
     2461 gtcgtggaag cactgacagg cagtgcagcc tcgaggctcc gcgggggcac ttcctccaga
     2521 cgcctctctt ccacacccct tccaaaagca aaaagaagcc tcgaaagtga aatgtatctg
     2581 gaaggtctgg gcagatcaca cattgcttcc cccagtcctt gtcctgacag aatgccccta
     2641 ccatcaccca ctgagtctag gcacagcctc tccatccctc ctgtctccag ccctccggag
     2701 cagaaagtgg gtctttatcg aagacaaact gaacttcaag acaaaagtga attttcagat
     2761 gtggacaagc tagcttttaa ggataatgag gagtttgaat catcttttga atctgcaggg
     2821 aacatgccaa ggcagttgga aatgggcggg ctttctcctg ccggggatat gtctcatgtg
     2881 gacgctgctg cagctgctgt gcccctctca tatcagcacc caagtgtaga tcagaaacaa
     2941 attgaagaac aaaaggaaga agaaaaaata cgggaacagc aagtgaaaga acgaaggcag
     3001 agagaagaaa gaaggcagag taacctacaa gaagttttag aaagggaacg aagagaacta
     3061 gaaaaactgt atcaggaaag gaagatgatt gaagaatcac tgaagattaa aataaaaaag
     3121 gaattagaaa tggaaaatga attagaaatg agtaatcaag aaataaaaga caaatctgct
     3181 cacagtgaaa atcctttaga gaaatacatg aaaatcatcc agcaggagca agaccaggag
     3241 tcggcagata agagctcaaa aaagatggtc caagaaggct ccctagtgga cacgctgcaa
     3301 tctagtgaca aagtcgaaag tttaacaggc ttttctcatg aagaactaga cgactcttgg
     3361 taaccatgtt tgctgcccag cttctaactt acataccgtg agaagttacg taacatttac
     3421 tcctttgtaa atgtttccct atcatcagac aaaactcaat aaaaatgtgt gtaatccaat
     3481 gtgggttttt ttttccataa ttaattttga taccatagtg tgtgaaccaa gaataatcta
     3541 gtcacgtgaa acctcttctc cagtcatagt atttctcatt cattataata aaagtaactg
     3601 gcttttaacc tc
//
