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OFD1

GENERAL INFORMATION

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

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General cytoplasmic expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 3 antibodies.
HPA031102 , HPA031103 , HPA031104
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PROGNOSTIC SUMMARY
Prognostic marker in urothelial cancer (favourable), renal cancer (unfavourable) and cervical cancer (favourable).
Urothelial cancer p<0.001
Renal cancer p<0.001
Cervical cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA031102
HPA031103
HPA031104

GENE INFORMATION

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 83.38)

Entrez gene

 8481

UniProt

 O75665 (UniProt - Evidence at protein level)

neXtProt

 NX_O75665

Antibodypedia

 OFD1 antibodies

PROTEIN BROWSER
OFD1-001
OFD1-002
OFD1-201
OFD1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
OFD1-001
ENSP00000344314
ENST00000340096
O75665 [Direct mapping]
Oral-facial-digital syndrome 1 protein
E9KL37 [Target identity:100%; Query identity:100%]
Epididymis tissue sperm binding protein Li 5a; Oral-facial-digital syndrome 1, isoform CRA_a
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Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000086 [G2/M transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005929 [cilium]
GO:0006996 [organelle organization]
GO:0015630 [microtubule cytoskeleton]
GO:0016020 [membrane]
GO:0034451 [centriolar satellite]
GO:0035082 [axoneme assembly]
GO:0036064 [ciliary basal body]
GO:0043014 [alpha-tubulin binding]
GO:0043015 [gamma-tubulin binding]
GO:0060271 [cilium morphogenesis]
GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry]
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 1012 aa
116.7 kDa 		No 0
OFD1-002
ENSP00000369941
ENST00000380567
A6NF31 [Direct mapping]
Oral-facial-digital syndrome 1 protein
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0015630 [microtubule cytoskeleton]
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 872 aa
101 kDa 		No 0
OFD1-201
ENSP00000369923
ENST00000380550
O75665 [Direct mapping]
Oral-facial-digital syndrome 1 protein
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000086 [G2/M transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005929 [cilium]
GO:0006996 [organelle organization]
GO:0015630 [microtubule cytoskeleton]
GO:0016020 [membrane]
GO:0034451 [centriolar satellite]
GO:0036064 [ciliary basal body]
GO:0043014 [alpha-tubulin binding]
GO:0043015 [gamma-tubulin binding]
GO:0060271 [cilium morphogenesis]
GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry]
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 972 aa
111.7 kDa 		No 0
OFD1-202
ENSP00000381432
ENST00000398395
A0A0A0MS89 [Direct mapping]
Oral-facial-digital syndrome 1 protein
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 338 aa
40.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.