OFD1

GENE INFORMATION

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Gene name

OFD1 (HGNC Symbol)

Synonyms

71-7A, CXorf5, JBTS10, RP23

Description

oral-facial-digital syndrome 1 (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

p22.2

Chromosome location (bp)

13752832 - 13787480

Ensembl

ENSG00000046651 (version 73.37)

Entrez gene

8481

UniProt

O75665 (UniProt - Evidence at protein level)

neXtProt

NX_O75665

Antibodypedia

OFD1 antibodies
 

PROTEIN VIEW

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OFD1-001
 
OFD1-002
 
OFD1-201
 
OFD1-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

OFD1-001 ENSP00000344314
ENST00000340096
O75665
Show all »
Show » Show » 1012 116.7 No 0
OFD1-002 ENSP00000369941
ENST00000380567
A6NF31
Show all »
Show » 872 101 No 0
OFD1-201 ENSP00000369923
ENST00000380550
O75665
Show all »
Show » Show » 972 111.7 No 0
OFD1-202 ENSP00000381432
ENST00000398395
O75665
Show all »
Show » Show » 367 42.9 No 0