OFD1

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]

Description

OFD1 centriole and centriolar satellite protein

Tissue specificity

Low tissue specificity

Subcell location

Microtubules

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (13734745 - 13769357)

Ensembl ID

ENSG00000046651  (ver. 103.38)

Orthologs

Mouse Ofd1: ENSMUSG00000040586

UniProt

O75665

neXtProt

NX_O75665

Human splice variants
Mouse splice variants

Protein structure