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Gene: OFD1 (OFD1 centriole and centriolar satellite protein) Homo sapiens
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
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
Human AssemblyChrPosition (strand)SourceGenome Browsers
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)

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


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on OFD1
Alliance 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


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