Format

Send to:

Choose Destination

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

Gene ID: 8481, updated on 4-Nov-2018

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; Vega:OTTHUMG00000021159
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

Genomic context

See OFD1 in Genome Data Viewer
Location:
Xp22.2
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (13734713..13773978)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13733549..13787480)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Joubert syndrome 10
MedGen: C2749019 OMIM: 300804 GeneReviews: Joubert Syndrome
Compare labs
Oral-facial-digital syndrome 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 (2012-05-31)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-31)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...

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
alpha-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
gamma-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
NOT centriole replication ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial cilium movement involved in determination of left/right asymmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT mitotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT mitotic spindle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
centriolar satellite ISS
Inferred from Sequence or Structural Similarity
more info
 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..39649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330209.1NP_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_001330210.1NP_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
    Related
    ENSP00000369941.1, ENST00000380567.5
    Conserved Domains (1) summary
    COG0419
    Location:130415
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
  3. NM_003611.2NP_003602.1  oral-facial-digital syndrome 1 protein isoform 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, OTTHUMP00000022940, ENST00000340096.10, OTTHUMT00000055808
    Conserved Domains (1) summary
    pfam16045
    Location:75101
    LisH_2; LisH

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    13734713..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

    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

    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

    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

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