Tissue expression of CFAP53 - Summary - The Human Protein Atlas

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CFAP53

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TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	CFAP53
Gene description	Cilia and flagella associated protein 53
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Group enriched (fallopian tube, testis)
GTEx:	Tissue enriched (testis)
FANTOM5:	Tissue enhanced (pituitary gland, testis)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in testis and ciliated cells.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.
Reliability score	Supported based on 1 antibody. HPA040595
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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: Group enriched (fallopian tube, testis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (testis)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (pituitary gland, testis)

GENE INFORMATION
Gene name	CFAP53 (HGNC Symbol)
Synonyms	CCDC11, FLJ32743
Description	Cilia and flagella associated protein 53 (HGNC Symbol)
Entrez gene summary	This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
Chromosome	18
Cytoband	q21.1
Chromosome location (bp)	50227193 - 50266522
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000172361 (version 83.38)
Entrez gene	220136
UniProt	Q96M91 (UniProt - Evidence at protein level)
neXtProt	NX_Q96M91
Antibodypedia	CFAP53 antibodies

PROTEIN BROWSER

CFAP53-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CFAP53-001 ENSP00000381553 ENST00000398545	Q96M91 [Direct mapping] Cilia- and flagella-associated protein 53 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0005929 [cilium] GO:0008150 [biological_process] Show all	514 aa 61.8 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.