Creative BioMart to Present at AACR Annual Meeting|Apr. 5-10, 2024|Booth #2953 Learn More

OFD1

Official Full Name

oral-facial-digital syndrome 1
Overview

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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined.
Synonyms

OFD1; oral-facial-digital syndrome 1; CXorf5; oral-facial-digital syndrome 1 protein; 71 7A; JBTS10; protein 71-7A; 71-7A; SGBS2; MGC117039; MGC117040;

Species	Cat.#	Product name	Source (Host)	Tag	Price
Human	OFD1-402H	Recombinant Human OFD1	Mammalian Cell	His	Inquiry
Human	OFD1-3720H-B	Recombinant Human OFD1 Protein Pre-coupled Magnetic Beads	HEK293		Inquiry
Human	OFD1-3720H	Recombinant Human OFD1 Protein, His (Fc)-Avi-tagged	HEK293	His (Fc)-Avi	Inquiry
Zebrafish	OFD1-1242Z	Recombinant Zebrafish OFD1	Mammalian Cell	His	Inquiry

Involved Pathway
Protein Function
Interacting Protein

OFD1 involved in several pathways and played different roles in them. We selected most pathways OFD1 participated on our site, such as Anchoring of the basal body to the plasma membrane, Assembly of the primary cilium, Cell Cycle, which may be useful for your reference. Also, other proteins which involved in the same pathway with OFD1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name	Pathway Related Protein
Anchoring of the basal body to the plasma membrane	NINL;PCM1;CEP89;BBS13;RAB3IP;DYNC1I2;CEP135;NPHP1;NEDD1
Assembly of the primary cilium	EXOC3;IFT20;B9D2;KIF3B;SCLT1;ARL3;TTC30A;NDE1;DYNC1I2
Cell Cycle	AKAP9;CLSPN;YWHABL;CENPE;BUB3;NCAPD3;CLASP1A;CEP57;NUMA1
Cell Cycle, Mitotic	CDK11B;CDKN2D;CNEP1R1;DULLARD;LMNB1;NUP50;CDK7;CKAP5;CENPL
Centrosome maturation	FGFR1OP;MAPRE1;DCTN1A;CEP72;CENPJ;CETN2;CP110;CEP76;CEP78
G2/M Transition	NUMA1;MYBL2;CEP135;CKAP5;CEP57;CEP78;ODF2B;SDCCAG8;CEP290
Hedgehog off state	WDR19;RPGRIP1L;BBS13;GPR161;WDR35;INTU;IFT172;TULP3;IFT52
Loss of Nlp from mitotic centrosomes	CEP72;CEP70;CENPJ;SDCCAG8;NDE1;TUBG1;PLK4;PCM1;CEP78

OFD1 has several biochemical functions, for example, alpha-tubulin binding, gamma-tubulin binding, protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by OFD1 itself. We selected most functions OFD1 had, and list some proteins which have the same functions with OFD1. You can find most of the proteins on our site.

Function	Related Protein
alpha-tubulin binding	PACRG;SNCA;BBS4;B4GALT1;RACGAP1;NDEL1;FNTA;WASH1;SLC6A2
gamma-tubulin binding	CEP57;RAD51D;PIFO;LYN;OFD1;RAB11FIP5;FEZ1;RACGAP1;TUBGCP5
protein binding	ZNF550;GTF2A2;ACD;TMPO;ADRBK1;TFAP2A;EEF2;PBX1;CXXC1

OFD1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with OFD1 here. Most of them are supplied by our site. Hope this information will be useful for your research of OFD1.