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

    Gene ID: 8481, updated on 8-Jul-2021

    Summary

    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
    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
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    Genomic context

    See OFD1 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (13734726..13773978)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13752867..13787476)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex subunit 2 Neighboring gene glycoprotein M6B Neighboring gene uncharacterized LOC105373138 Neighboring gene gem nuclear organelle associated protein 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Joubert syndrome 10
    MedGen: C2749019 OMIM: 300804 GeneReviews: Joubert Syndrome
    Compare labs
    Orofaciodigital syndrome 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    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
     
    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
    PubMed 
    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
    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
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    oral-facial-digital syndrome 1 protein
    Names
    Joubert syndrome type 10
    protein 71-7A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008872.1 RefSeqGene

      Range
      5036..39645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330209.2NP_001317138.1  oral-facial-digital syndrome 1 protein 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/Swiss-Prot
      O75665
      Related
      ENSP00000369923.3, ENST00000380550.6
      Conserved Domains (1) summary
      pfam16045
      Location:75101
      LisH_2; LisH
    2. NM_001330210.2NP_001317139.1  oral-facial-digital syndrome 1 protein 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
      Consensus CDS
      CCDS83455.1
      UniProtKB/TrEMBL
      A6NF31
      Conserved Domains (1) summary
      COG0419
      Location:130415
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    3. NM_003611.3NP_003602.1  oral-facial-digital syndrome 1 protein 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
      O75665
      UniProtKB/TrEMBL
      E9KL37
      Related
      ENSP00000344314.6, ENST00000340096.11
      Conserved Domains (1) summary
      pfam16045
      Location:75101
      LisH_2; LisH

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      13734726..13773978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274606.4XP_005274663.1  oral-facial-digital syndrome 1 protein isoform X1

      Conserved Domains (1) summary
      pfam16045
      Location:2753
      LisH_2; LisH
    2. XM_011545592.3XP_011543894.1  oral-facial-digital syndrome 1 protein isoform X2

      Conserved Domains (1) summary
      COG0419
      Location:206491
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    3. XM_024452469.1XP_024308237.1  oral-facial-digital syndrome 1 protein isoform X7

      Conserved Domains (1) summary
      cl25632
      Location:25132
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    4. XM_024452470.1XP_024308238.1  oral-facial-digital syndrome 1 protein isoform X7

      Conserved Domains (1) summary
      cl25632
      Location:25132
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    5. XM_024452468.1XP_024308236.1  oral-facial-digital syndrome 1 protein isoform X7

      Conserved Domains (1) summary
      cl25632
      Location:25132
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    6. XM_011545597.2XP_011543899.1  oral-facial-digital syndrome 1 protein isoform X5

      See identical proteins and their annotated locations for XP_011543899.1

      Conserved Domains (1) summary
      COG0419
      Location:130415
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    7. XM_024452471.1XP_024308239.1  oral-facial-digital syndrome 1 protein isoform X8

      Conserved Domains (1) summary
      cl25632
      Location:25132
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
    8. XM_011545595.1XP_011543897.1  oral-facial-digital syndrome 1 protein isoform X3

      See identical proteins and their annotated locations for XP_011543897.1

      Conserved Domains (1) summary
      COG0419
      Location:163448
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    9. XM_017029909.1XP_016885398.1  oral-facial-digital syndrome 1 protein isoform X4

      UniProtKB/TrEMBL
      A6NF31
      Conserved Domains (1) summary
      COG0419
      Location:130415
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    10. XM_011545594.3XP_011543896.1  oral-facial-digital syndrome 1 protein isoform X3

      See identical proteins and their annotated locations for XP_011543896.1

      Conserved Domains (1) summary
      COG0419
      Location:163448
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    11. XM_017029911.1XP_016885400.1  oral-facial-digital syndrome 1 protein isoform X6

    12. XM_011545598.1XP_011543900.1  oral-facial-digital syndrome 1 protein isoform X7

      See identical proteins and their annotated locations for XP_011543900.1

      Conserved Domains (1) summary
      cl25632
      Location:25132
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
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