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

    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 MAPRE1A,YWHABA,NEK7,CDC25C,CSNK2A2,CCND2,LEMD3,BLZF1,RANGAP1B,CTDNEP1B
    Anchoring of the basal body to the plasma membrane B9D1,MAPRE1B,DCTN1,CDK5RAP2,TSGA14,CC2D2A,CEP63,DCTN2,CLASP1A,CEP152
    Assembly of the primary cilium MKKS,TTC30A2,TCTN1,KIF3A,HAUS2,ARF4A,TTC8,KIF3C,CETN2,SSNA1
    Hedgehog off state IFT52,KIF7,WDR19,KIF3A,WDR35,GPR161,BBS13,TULP3,IFT122,IFT172
    G2/M Transition CDK11B,NDE1,CEP70,MAPRE1A,SDCCAG8,CENPJ,NEDD1,HAUS2,CEP135,TUBGCP5
    Loss of Nlp from mitotic centrosomes TUBG1,CEP70,CEP152,PLK4,CEP63,SSNA1,NINL,ODF2B,NEDD1,PCM1
    Centrosome maturation DCTN3,TSGA14,TUBG1,CEP76,ODF2B,MAPRE1B,MAPRE1A,CP110,CDK11A,NUMA1
    Cell Cycle, Mitotic CEP72,CENPJ,CEP76,PHF8,NUP35,CENPK,CEP57,LIN54,DYRK1A,CTDNEP1A

    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
    protein binding TXLNG,SH3GL3,PRKAA1,MOB1A,HP,TRIP6,DDX31,OSBPL1A,PDCD6IP,NLRC5
    alpha-tubulin binding B4GALT1,ARL8B,PACRG,DDL-2,HDAC6,SLC6A2,ARL8A,SERPINB1A,BBS4,NDEL1
    gamma-tubulin binding TUBGCP4,MARK4,NDN,DIXDC1,RAD51L3,TUBGCP5,PIFO,FEZ1,CEP57,RACGAP1

    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.

    Resources

    References

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