OFD1
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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
| Cat.# | Product name | Source (Host) | Species | Tag | Protein Length | Price |
|---|---|---|---|---|---|---|
| OFD1-1242Z | Recombinant Zebrafish OFD1 | Mammalian Cells | Zebrafish | His |
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| OFD1-402H | Recombinant Human OFD1 | Mammalian Cells | Human | His |
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| OFD1-3720H | Recombinant Human OFD1 Protein, His (Fc)-Avi-tagged | HEK293 | Human | His&Fc&Avi |
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| OFD1-3720H-B | Recombinant Human OFD1 Protein Pre-coupled Magnetic Beads | HEK293 | Human |
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Involved Pathway
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 |
|---|---|
| Cell Cycle, Mitotic | VRK1,E2F4,MCPH1,SPDL1,CEP76,LIN52,WAPAL,NDC80,PIANP,GINS3 |
| G2/M Transition | CDK11B,MAPRE1B,DCTN1A,CEP76,HAUS2,CEP63,BORA,MYBL2,SSNA1,SDCCAG8 |
| Loss of Nlp from mitotic centrosomes | CENPJ,NINL,CEP164,HAUS2,CKAP5,CEP70,TSGA14,CLASP1A,CEP63,NDE1 |
| Cell cycle | MCM9,PSMC3IP,KAT5,E2F3,CLASP1A,CENPJ,GMNN,NCAPH2,FKBP6,NCAPG |
| Centrosome maturation | CEP152,TSGA14,NDE1,CKAP5,CEP70,MAPRE1A,TUBG2,CEP135,HAUS2,CLASP1 |
| Anchoring of the basal body to the plasma membrane | TSGA14,MAPRE1,NDE1,CSNK1E,DCTN1,ODF2B,NEK2,SSNA1,CETN2,DYNC1H1 |
| Hedgehog off state | IFT172,BBS13,KIF7,GPR161,MKS1,IFT122,TULP3,WDR19,TTC21B,IFT52 |
| Assembly of the primary cilium | TMEM216,KIF3A,CKAP5,TTC30A2,PLK4,TCTEX1D1,TNPO1,DCTN2,TTC30A,CP110 |
Protein Function
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 | ARL8A,TRPV4,SPAST,NDEL1,DDL-2,PPARGC1A,PROL1,WASH,INO80,ARL8B |
| protein binding | MPZL3,MFN1,SLC1A1,DDX19A,MRPL9,DPH1,HMGA2,PDCL,ASUN,IGF2 |
| gamma-tubulin binding | BRCA2,DIXDC1,TUBGCP3,RAD51D,B9D2,RACGAP1,CEP57,BLOC1S2,TUBGCP5,WASH |
Interacting Protein
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.
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