OFD1

GENERAL INFORMATION

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Gene name

OFD1

Gene description

Oral-facial-digital syndrome 1

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression in most cell types combined with membranous expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
HPA031102 , HPA031103 , HPA031104
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

p22.2

Chromosome location (bp)

13734745 - 13769353

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000046651 (version 78.38)

Entrez gene

8481

UniProt

O75665 (UniProt - Evidence at protein level)

neXtProt

NX_O75665

Antibodypedia

OFD1 antibodies


PROTEIN BROWSER

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ENST00000340096
 
ENST00000380550
 
ENST00000380567
 
ENST00000398395
 
 
 
 


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 » Show » 872 101 No 0
OFD1-201 ENSP00000369923
ENST00000380550
O75665
Show all »
Show » Show » 972 111.7 No 0
OFD1-202 ENSP00000381432
ENST00000398395
Q4VAK3
Show all »
Show » 338 40.2 No 0