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    OFD1 OFD1 centriole and centriolar satellite protein [ Homo sapiens (human) ]

    Gene ID: 8481, updated on 28-Oct-2024

    Summary

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    Official Symbol
    OFD1provided by HGNC
    Official Full Name
    OFD1 centriole and centriolar satellite proteinprovided by HGNC
    Primary source
    HGNC:HGNC:2567
    See related
    Ensembl:ENSG00000046651 MIM:300170; AllianceGenome:HGNC:2567
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP23; 71-7A; SGBS2; CXorf5; JBTS10
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 12.1), thyroid (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OFD1 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13714505..13773738)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (13295911..13355418)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13752867..13787476)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985656 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:13687079-13688278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20668 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:13710181-13710377 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:13778869-13779368 Neighboring gene NANOG hESC enhancer GRCh37_chrX:13820205-13820738 Neighboring gene glycoprotein M6B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:14047600-14048100 and GRCh37_chrX:14048101-14048601 Neighboring gene gem nuclear organelle associated protein 8 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:14051018-14051200 Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Tsurusaki Y, et al. Clin Genet, 2013 Feb. PMID 22548404
    2. The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. Hannah WB, et al. Mol Genet Genomic Med, 2019 Sep. PMID 31373179, Free PMC Article
    3. Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. Bukowy-Bieryllo Z, et al. J Med Genet, 2019 Nov. PMID 31366608
    4. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Aljeaid D, et al. Am J Med Genet A, 2019 Jun. PMID 30895720
    5. The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. Alfieri M, et al. Tissue Cell, 2020 Jun. PMID 32473706

    See all (117) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.
      Title: Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.
    2. A ciliopathy complex builds distal appendages to initiate ciliogenesis.
      Title: A ciliopathy complex builds distal appendages to initiate ciliogenesis.
    3. Indian child with novel variant in OFD1 gene.
      Title: Indian child with novel variant in OFD1 gene.
    4. A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
      Title: A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
    5. The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.
      Title: The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.
    6. s clinicians consider the presence or absence of conditions allelic at OFD1, PCD should be considered part of the spectrum of OFD1-related disorders. Understanding the OFD1-related disease spectrum may allow for more focused genetic testing and more timely management of treatable sequelae.
      Title: The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
    7. Truncations of the C-terminal part of OFD1 (exons 16-22) almost invariably cause a respiratory phenotype.
      Title: Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.
    8. this is the first clinical report of a live born male with JS and OFD features secondary to a novel pathogenic variant in OFD1 gene that resulted in a complete pituitary aplasia and subsequent severe hypoplasia of peripheral endocrine glands.
      Title: A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
    9. Total OFD1 mRNA in the index fetus was significantly lower than the control.
      Title: Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
    10. OFD1 mutation is associated with Oral-facial-digital syndrome type 1.
      Title: Clinical spectrum of male patients with OFD1 mutations.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Joubert syndrome 10
    MedGen: C2749019 OMIM: 300804 GeneReviews: Joubert Syndrome
    		Compare labs
    Orofaciodigital syndrome I
    MedGen: C1510460 OMIM: 311200 GeneReviews: Oral-Facial-Digital Syndrome Type I
    		Compare labs
    Retinitis pigmentosa 23
    MedGen: C1419610 OMIM: 300424 GeneReviews: Not available
    		Compare labs
    Simpson-Golabi-Behmel syndrome type 2
    MedGen: C1846175 OMIM: 300209 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-04-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-13)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117039, MGC117040

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables gamma-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in centriole replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in embryonic body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cilium movement involved in determination of left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in mitotic spindle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centriole and centriolar satellite protein OFD1
    Names
    Joubert syndrome type 10
    oral-facial-digital syndrome 1 protein
    protein 71-7A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008872.2 RefSeqGene

      Range
      25245..59854
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330209.2 → NP_001317138.1  centriole and centriolar satellite protein OFD1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC003037
      Consensus CDS
      CCDS83454.1
      UniProtKB/TrEMBL
      A8K2T9
      Related
      ENSP00000369923.3, ENST00000380550.6
      Conserved Domains (1) summary
      pfam16045
      Location:75 → 101
      LisH_2; LisH

    2. NM_001330210.2 → NP_001317139.1  centriole and centriolar satellite protein OFD1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC003037
      UniProtKB/TrEMBL
      A8K2T9
      Conserved Domains (1) summary
      COG0419
      Location:130 → 415
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    3. NM_003611.3 → NP_003602.1  centriole and centriolar satellite protein OFD1 isoform 1

      See identical proteins and their annotated locations for NP_003602.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC003037, CB134304, Y15164
      Consensus CDS
      CCDS14157.1
      UniProtKB/Swiss-Prot
      B9ZVU5, O75665, O75666, Q4VAK4
      UniProtKB/TrEMBL
      A8K2T9, E9KL37
      Related
      ENSP00000344314.6, ENST00000340096.11
      Conserved Domains (1) summary
      pfam16045
      Location:75 → 101
      LisH_2; LisH

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      13714505..13773738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442584.1 → XP_047298540.1  centriole and centriolar satellite protein OFD1 isoform X2

    2. XM_047442588.1 → XP_047298544.1  centriole and centriolar satellite protein OFD1 isoform X6

    3. XM_047442583.1 → XP_047298539.1  centriole and centriolar satellite protein OFD1 isoform X1

    4. XM_047442585.1 → XP_047298541.1  centriole and centriolar satellite protein OFD1 isoform X3

    5. XM_047442586.1 → XP_047298542.1  centriole and centriolar satellite protein OFD1 isoform X4

    6. XM_047442589.1 → XP_047298545.1  centriole and centriolar satellite protein OFD1 isoform X7

    7. XM_047442591.1 → XP_047298547.1  centriole and centriolar satellite protein OFD1 isoform X9

    8. XM_047442593.1 → XP_047298549.1  centriole and centriolar satellite protein OFD1 isoform X12

    9. XM_047442594.1 → XP_047298550.1  centriole and centriolar satellite protein OFD1 isoform X13

    10. XM_047442587.1 → XP_047298543.1  centriole and centriolar satellite protein OFD1 isoform X5

    11. XM_047442590.1 → XP_047298546.1  centriole and centriolar satellite protein OFD1 isoform X8

    12. XM_047442592.1 → XP_047298548.1  centriole and centriolar satellite protein OFD1 isoform X11

    13. XM_047442595.1 → XP_047298551.1  centriole and centriolar satellite protein OFD1 isoform X14

    14. XM_047442596.1 → XP_047298552.1  centriole and centriolar satellite protein OFD1 isoform X15

    15. XM_047442597.1 → XP_047298553.1  centriole and centriolar satellite protein OFD1 isoform X16

    16. XM_017029909.2 → XP_016885398.1  centriole and centriolar satellite protein OFD1 isoform X10

      UniProtKB/TrEMBL
      A8K2T9
      Conserved Domains (1) summary
      COG0419
      Location:130 → 415
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    17. XM_017029911.2 → XP_016885400.1  centriole and centriolar satellite protein OFD1 isoform X17

      UniProtKB/TrEMBL
      B4DLQ3

    18. XM_011545598.2 → XP_011543900.1  centriole and centriolar satellite protein OFD1 isoform X18

      See identical proteins and their annotated locations for XP_011543900.1

      UniProtKB/TrEMBL
      B4DLQ3
      Conserved Domains (1) summary
      COG0419
      Location:29 → 130
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      13295911..13355418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328003.1 → XP_054183978.1  centriole and centriolar satellite protein OFD1 isoform X2

    2. XM_054328007.1 → XP_054183982.1  centriole and centriolar satellite protein OFD1 isoform X6

    3. XM_054328002.1 → XP_054183977.1  centriole and centriolar satellite protein OFD1 isoform X1

    4. XM_054328004.1 → XP_054183979.1  centriole and centriolar satellite protein OFD1 isoform X3

    5. XM_054328005.1 → XP_054183980.1  centriole and centriolar satellite protein OFD1 isoform X4

    6. XM_054328008.1 → XP_054183983.1  centriole and centriolar satellite protein OFD1 isoform X7

    7. XM_054328010.1 → XP_054183985.1  centriole and centriolar satellite protein OFD1 isoform X9

    8. XM_054328013.1 → XP_054183988.1  centriole and centriolar satellite protein OFD1 isoform X12

    9. XM_054328014.1 → XP_054183989.1  centriole and centriolar satellite protein OFD1 isoform X13

    10. XM_054328006.1 → XP_054183981.1  centriole and centriolar satellite protein OFD1 isoform X5

    11. XM_054328009.1 → XP_054183984.1  centriole and centriolar satellite protein OFD1 isoform X8

    12. XM_054328012.1 → XP_054183987.1  centriole and centriolar satellite protein OFD1 isoform X11

    13. XM_054328015.1 → XP_054183990.1  centriole and centriolar satellite protein OFD1 isoform X14

    14. XM_054328016.1 → XP_054183991.1  centriole and centriolar satellite protein OFD1 isoform X15

    15. XM_054328017.1 → XP_054183992.1  centriole and centriolar satellite protein OFD1 isoform X16

    16. XM_054328011.1 → XP_054183986.1  centriole and centriolar satellite protein OFD1 isoform X10

    17. XM_054328018.1 → XP_054183993.1  centriole and centriolar satellite protein OFD1 isoform X17

    18. XM_054328019.1 → XP_054183994.1  centriole and centriolar satellite protein OFD1 isoform X18

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75665.1 GenPept UniProtKB/Swiss-Prot:O75665

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