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Gene: OFD1 (OFD1 centriole and centriolar satellite protein) Homo sapiens
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Symbol: OFD1
Name: OFD1 centriole and centriolar satellite protein
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 71-7A; CXorf5; JBTS10; Joubert syndrome type 10; MGC117039; MGC117040; oral-facial-digital syndrome 1; retinitis pigmentosa 23 (X-linked recessive); RP23; SGBS2
Orthologs:
Mus musculus (house mouse) : Ofd1 (OFD1, centriole and centriolar satellite protein)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ofd1 (OFD1, centriole and centriolar satellite protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ofd1 (OFD1 centriole and centriolar satellite protein)
Pan paniscus (bonobo/pygmy chimpanzee) : OFD1 (OFD1 centriole and centriolar satellite protein)
Canis lupus familiaris (dog) : OFD1 (OFD1 centriole and centriolar satellite protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ofd1 (OFD1 centriole and centriolar satellite protein)
Sus scrofa (pig) : OFD1 (OFD1 centriole and centriolar satellite protein)
more info ...
Related Pseudogenes: OFD1P10Y   OFD1P11Y   OFD1P12Y   OFD1P13Y   OFD1P14Y   OFD1P15Y   OFD1P16Y   OFD1P17   OFD1P18Y   OFD1P1Y   OFD1P2Y   OFD1P3Y   OFD1P4Y   OFD1P5Y   OFD1P6Y   OFD1P7Y   OFD1P8Y   OFD1P9Y  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X13,734,713 - 13,773,978 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X13,733,549 - 13,787,480 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X13,662,801 - 13,697,393 (+)NCBINCBI36hg18NCBI36
Build 34X13,512,536 - 13,547,127NCBI
CeleraX17,869,913 - 17,904,562 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX11,510,937 - 11,544,940 (+)NCBIHuRef
CHM1_1X13,783,650 - 13,818,298 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on OFD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1348587
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.