Tissue expression of TCOF1 - Summary - The Human Protein Atlas

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TCOF1

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TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	TCOF1
Gene description	Treacher Collins-Franceschetti syndrome 1
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	10
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Ubiquitous nucleolar expression.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 3 antibodies. HPA038237 , HPA038238 , CAB033199
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	TCOF1 (HGNC Symbol)
Synonyms	TCS, treacle
Description	Treacher Collins-Franceschetti syndrome 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Chromosome	5
Cytoband
Chromosome location (bp)	150357639 - 150400308
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000070814 (version 83.38)
Entrez gene	6949
UniProt	Q13428 (UniProt - Evidence at protein level)
neXtProt	NX_Q13428
Antibodypedia	TCOF1 antibodies

PROTEIN BROWSER

TCOF1-001	TCOF1-002	TCOF1-003	TCOF1-004	TCOF1-008	TCOF1-010	TCOF1-011	TCOF1-014	TCOF1-015	TCOF1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
TCOF1-001 ENSP00000325223 ENST00000323668	Q13428 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005215 [transporter activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006810 [transport] GO:0044822 [poly(A) RNA binding] Show all	1411 aa 144.3 kDa	No	0
TCOF1-002 ENSP00000406888 ENST00000439160	Q13428 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005215 [transporter activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006810 [transport] GO:0044822 [poly(A) RNA binding] Show all	1451 aa 148.4 kDa	No	0
TCOF1-003 ENSP00000409944 ENST00000445265	Q13428 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005215 [transporter activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006810 [transport] GO:0044822 [poly(A) RNA binding] Show all	1412 aa 144.4 kDa	No	0
TCOF1-004 ENSP00000377811 ENST00000394269	Q13428 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005215 [transporter activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006810 [transport] GO:0044822 [poly(A) RNA binding] Show all	958 aa 96.8 kDa	No	0
TCOF1-008 ENSP00000427484 ENST00000513346	E7ETY2 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] Show all	1488 aa 152.3 kDa	No	0
TCOF1-010 ENSP00000422567 ENST00000513538	H0Y8Y7 [Direct mapping] Treacle protein Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		67 aa 6.8 kDa	No	0
TCOF1-011 ENSP00000426471 ENST00000515516	H0YA99 [Direct mapping] Treacle protein Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		188 aa 21.1 kDa	No	0
TCOF1-014 ENSP00000421655 ENST00000504761	Q13428 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005215 [transporter activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006810 [transport] GO:0044822 [poly(A) RNA binding] Show all	1488 aa 152.1 kDa	No	0
TCOF1-015 ENSP00000390717 ENST00000427724	J3KQ96 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] Show all	1414 aa 144.1 kDa	No	0
TCOF1-201 ENSP00000367028 ENST00000377797	Q13428 [Direct mapping] Treacle protein Show all	Phobius predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005215 [transporter activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006810 [transport] GO:0042790 [transcription of nuclear large rRNA transcript from RNA polymerase I promoter] GO:0044822 [poly(A) RNA binding] Show all	1488 aa 152.1 kDa	No	0

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The Human Protein Atlas

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