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

Gene ID: 8481, updated on 2-Nov-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
not available
Orofaciodigital syndrome I
MedGen: C1510460 OMIM: 311200 GeneReviews: Oral-Facial-Digital Syndrome Type I
not available
Retinitis pigmentosa 23
MedGen: C1419610 OMIM: 300424 GeneReviews: Not available
not available
Simpson-Golabi-Behmel syndrome type 2
MedGen: C1846175 OMIM: 300209 GeneReviews: Not available
not available

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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