Cell atlas - OFD1 - The Human Protein Atlas

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OFD1

TISSUE

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CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Microtubules

Human cell
	Microtubules

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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
Summary	Localized to the microtubules.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Microtubules (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA031103
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the microtubules.

Main location

Microtubules (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA031103	A-431	Microtubules
	HPA031103	U-2 OS	Microtubules
	HPA031103	U-251 MG	Microtubules

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 Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) 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: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] Show all	1012 aa 116.7 kDa	No	0
OFD1-002 ENSP00000369941 ENST00000380567	A6NF31 [Direct mapping] Oral-facial-digital syndrome 1 protein Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0015630 [microtubule cytoskeleton] Show all	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] Show all	972 aa 111.7 kDa	No	0
OFD1-202 ENSP00000381432 ENST00000398395	A0A0A0MS89 [Direct mapping] Oral-facial-digital syndrome 1 protein Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		338 aa 40.2 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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