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

Gene ID: 8481, updated on 16-Oct-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)

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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_008872.1 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
    COG0419
    Location:29130
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
  4. XM_024452470.1XP_024308238.1  oral-facial-digital syndrome 1 protein isoform X7

    Conserved Domains (1) summary
    COG0419
    Location:29130
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
  5. XM_024452468.1XP_024308236.1  oral-facial-digital syndrome 1 protein isoform X7

    Conserved Domains (1) summary
    COG0419
    Location:29130
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
  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
    COG0419
    Location:29130
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
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