Tissue expression of COL10A1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	COL10A1
Gene description	Collagen, type X, alpha 1
Protein class	Disease related genes Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (gallbladder)
GTEx:	Not detected
FANTOM5:	Tissue enriched (retina)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (gallbladder)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Not detected
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (retina)

GENE INFORMATION
Gene name	COL10A1
Synonyms
Description	Collagen, type X, alpha 1 (HGNC Symbol)
Entrez gene summary	This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
Chromosome	6
Cytoband	q22.1
Chromosome location (bp)	116118923 - 116158747
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000123500 (version 83.38)
Entrez gene	1300
UniProt	Q03692 (UniProt - Evidence at protein level)
neXtProt	NX_Q03692
Antibodypedia	COL10A1 antibodies

PROTEIN BROWSER

COL10A1-001	COL10A1-002	COL10A1-003	COL10A1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL10A1-001 ENSP00000327368 ENST00000327673	Q03692 [Direct mapping] Collagen alpha-1(X) chain Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0001958 [endochondral ossification] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005788 [endoplasmic reticulum lumen] GO:0005938 [cell cortex] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0046872 [metal ion binding] GO:0051216 [cartilage development] Show all	680 aa 66.2 kDa	Yes	0
COL10A1-002 ENSP00000392712 ENST00000418500	Q5QPC8 [Direct mapping] Collagen alpha-1(X) chain Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		51 aa 5.9 kDa	Yes	0
COL10A1-003 ENSP00000411285 ENST00000452729	Q5QPC7 [Direct mapping] Collagen alpha-1(X) chain Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		216 aa 21 kDa	Yes	0
COL10A1-201 ENSP00000243222 ENST00000243222	Q03692 [Direct mapping] Collagen alpha-1(X) chain Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005788 [endoplasmic reticulum lumen] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0046872 [metal ion binding] Show all	680 aa 66.2 kDa	Yes	0