• Gene id: 8481

Gene Summary

• Gene Symbol: OFD1   Gene   UCSC   Ensembl
• Aliases: 71-7A, CXorf5, JBTS10, RP23, SGBS2
• Gene name: OFD1 centriole and centriolar satellite protein
• Alternate names: oral-facial-digital syndrome 1 protein, Joubert syndrome type 10, protein 71-7A,
• Gene location: Xp22.2 (13734712: 13773977)     Exons: 27     NC_000023.11
• Gene summary(Entrez): 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 su
• OMIM: 300170

Protein Summary

• Protein general information: O75665  
  • Name: Oral facial digital syndrome 1 protein (Protein 71 7A)
  • Length: 1012  
  • Mass: 116671
  • Tissue specificity: Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb. {ECO
• Sequence:

  MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASN
  SLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEY
  HQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDT
  EIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGRE
  AELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDDYIIRTNRLIEDERKN
  KEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAITKQNHMLNEKVKEMSDYSLLKEEKLELLAQ
  NKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQI
  LGYKASVKSLTTQVADLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVL
  ARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNSAKSPLAAKSPPSLHL
  LEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGSAASRLRGGTSSRRLSSTPLPKAKRSLESEM
  YLEGLGRSHIASPSPCPDRMPLPSPTESRHSLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFE
  SSFESAGNMPRQLEMGGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSN
  LQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEKYMKIIQQEQDQESAD
  KSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW

• Structural information:
  • Protein Domains: (70..10-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126"-)
  • Interpro: IPR006594  
  • Prosite: PS50896
  • DIP: 60601
  • STRING: ENSP00000344314
• Other Databases: GeneCards:  OFD1  Malacards:  OFD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IBA	cellular component
GO:0036064	ciliary basal body	IBA	cellular component
GO:0005814	centriole	IBA	cellular component
GO:0035082	axoneme assembly	IBA	biological process
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0090307	mitotic spindle assembly	ISS	NOT|biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0007099	centriole replication	ISS	NOT|biological process
GO:0000278	mitotic cell cycle	ISS	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	ISS	biological process
GO:0043015	gamma-tubulin binding	ISS	molecular function
GO:0043014	alpha-tubulin binding	ISS	molecular function
GO:0034451	centriolar satellite	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060271	cilium assembly	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Joubert syndrome	KEGG:H00530
Oral-facial-digital syndrome	KEGG:H00454
Simpson-Golabi-Behmel syndrome	KEGG:H01215
Retinitis pigmentosa	KEGG:H00527
Joubert syndrome	KEGG:H00530
Oral-facial-digital syndrome	KEGG:H00454
Simpson-Golabi-Behmel syndrome	KEGG:H01215
Orofaciodigital syndrome I	PMID:16397067
Orofaciodigital syndrome I	PMID:21729220
Orofaciodigital syndrome I	PMID:11950863
Orofaciodigital syndrome I	PMID:18177199
Orofaciodigital syndrome I	PMID:23033313
Joubert syndrome	PMID:16783569
Retinitis pigmentosa	PMID:22619378
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
Primary ciliary dyskinesia	MIK: 31366608
Male infertility	MIK: 31366608
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31366608	Primary ciliary dyskinesia, Male infertility	Truncation of exons 16-22	Polish	120 Polish PCD patients	Male infertility
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881