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Collagen, type X, alpha 1

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Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene.^[5]^[6]

COL10A1

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
1GR3

Identifiers

Aliases

COL10A1, collagen type X alpha 1 chain

External IDs

OMIM: 120110; MGI: 88445; HomoloGene: 55466; GeneCards: COL10A1; OMA:COL10A1 - orthologs

Gene location (Human)

Chr.	Chromosome 6 (human)^[1]

Band	6q22.1	Start	116,118,909 bp^[1]
Band	6q22.1	End	116,158,747 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 10 (mouse)^[2]

Band	10 B1\|10 18.85 cM	Start	34,265,977 bp^[2]
Band	10 B1\|10 18.85 cM	End	34,273,081 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

tibia

periodontal fiber

buccal mucosa cell

cartilage tissue

mucosa of paranasal sinus

trabecular bone

visceral pleura

gallbladder

Achilles tendon

pancreatic epithelial cell

Top expressed in

humerus

intercostal muscle

tibia

forearm

trachea

radius

epiphyseal plate

ulna

bones of pectoral girdle

human fetus

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein binding metal ion binding extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength
Cellular component	cell cortex collagen endoplasmic reticulum lumen extracellular region extracellular matrix extracellular space collagen-containing extracellular matrix
Biological process	skeletal system development extracellular matrix organization
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


1300


12813

Ensembl


ENSG00000123500


ENSMUSG00000039462

UniProt


Q03692


Q05306

RefSeq (mRNA)


NM_000493


NM_009925

RefSeq (protein)


NP_000484


NP_034055

Location (UCSC)

Chr 6: 116.12 – 116.16 Mb

Chr 10: 34.27 – 34.27 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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. Type X collagen has a short triple helical collagen domain flanked by the N-terminal NC2 and the C-terminal NC1 domains. The C-terminal NC1 domain has complement C1q-like structure. Collagen X forms hexamer complexes through the association of NC1 regions.^[7] Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).^[6]

DDR2 is a collagen receptor for it.^[8]

Recent studies into the early detection of colon cancer have identified COL10A1 protein levels in serum as a potential diagnostic biomarker candidate to detect both adenoma lesions and tumor.^[9]

Collagen alpha-1(X) undergoes degradation in the active growth plate releasing an intact NC1 region with a small amount of collagenous region attached. This degradation byproduct has been deemed CXM and has potential to be a useful biomarker to assess real time growth velocity in children and fracture healing in adults.^[10]

References

edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000123500 – Ensembl, May 2017

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039462 – Ensembl, May 2017

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

^ Apte S, Mattei MG, Olsen BR (Jul 1991). "Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6". FEBS Lett. 282 (2): 393–6. doi:10.1016/0014-5793(91)80521-4. PMID 2037056. S2CID 6753444.

^ ^a ^b "Entrez Gene: COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)".

^ Kwan et al. 2005

^ Leitinger B, Kwan AP (August 2006). "The discoidin domain receptor DDR2 is a receptor for type X collagen". Matrix Biol. 25 (6): 355–64. doi:10.1016/j.matbio.2006.05.006. PMID 16806867.

^ Solé X, Crous-Bou M, Cordero D, Olivares D, Guinó E, Sanz-Pamplona R, Rodriguez-Moranta F, Sanjuan X, de Oca J, Salazar R, Moreno V (September 2014). "Discovery and validation of new potential biomarkers for early detection of colon cancer". PLOS ONE. 9 (9): e106748. Bibcode:2014PLoSO...9j6748S. doi:10.1371/journal.pone.0106748. PMC 4162553. PMID 25215506.

^ Coghlan, Ryan F.; Oberdorf, Jon A.; Sienko, Susan; Aiona, Michael D.; Boston, Bruce A.; Connelly, Kara J.; Bahney, Chelsea; Larouche, Jeremie; Almubarak, Sarah M.; Coleman, Daniel T.; Girkontaite, Irute; von Der Mark, Klaus; Lunstrum, Gregory P.; Horton, William A. (2017). "A degradation fragment of type X collagen is a real-time marker for bone growth velocity". Science Translational Medicine. 9 (419): eaan4669. doi:10.1126/scitranslmed.aan4669. PMC 6516194. PMID 29212713.

Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290. S2CID 6890740.

Kirsch T, Pfäffle M (1992). "Selective binding of anchorin CII (annexin V) to type II and X collagen and to chondrocalcin (C-propeptide of type II collagen). Implications for anchoring function between matrix vesicles and matrix proteins". FEBS Lett. 310 (2): 143–7. doi:10.1016/0014-5793(92)81316-E. PMID 1397263. S2CID 9498732.

Reichenberger E, Beier F, LuValle P, et al. (1992). "Genomic organization and full-length cDNA sequence of human collagen X." FEBS Lett. 311 (3): 305–10. doi:10.1016/0014-5793(92)81126-7. PMID 1397333. S2CID 12022346.

Apte SS, Seldin MF, Hayashi M, Olsen BR (1992). "Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10". Eur. J. Biochem. 206 (1): 217–24. doi:10.1111/j.1432-1033.1992.tb16919.x. PMID 1587271.

Reichenberger E, Aigner T, von der Mark K, et al. (1992). "In situ hybridization studies on the expression of type X collagen in fetal human cartilage". Dev. Biol. 148 (2): 562–72. doi:10.1016/0012-1606(91)90274-7. PMID 1743401.

Thomas JT, Cresswell CJ, Rash B, et al. (1992). "The human collagen X gene. Complete primary translated sequence and chromosomal localization". Biochem. J. 280 (3): 617–23. doi:10.1042/bj2800617. PMC 1130499. PMID 1764025.

Bonaventure J, Chaminade F, Maroteaux P (1995). "Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias". Hum. Genet. 96 (1): 58–64. doi:10.1007/BF00214187. PMID 7607655. S2CID 20888881.

McIntosh I, Abbott MH, Francomano CA (1995). "Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen". Hum. Mutat. 5 (2): 121–5. doi:10.1002/humu.1380050204. PMID 7749409. S2CID 26291298.

Chan D, Cole WG, Rogers JG, Bateman JF (1995). "Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia". J. Biol. Chem. 270 (9): 4558–62. doi:10.1074/jbc.270.9.4558. PMID 7876225.

McIntosh I, Abbott MH, Warman ML, et al. (1994). "Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus". Hum. Mol. Genet. 3 (2): 303–7. doi:10.1093/hmg/3.2.303. PMID 8004099.

Dharmavaram RM, Elberson MA, Peng M, et al. (1994). "Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia". Hum. Mol. Genet. 3 (3): 507–9. doi:10.1093/hmg/3.3.507. PMID 8012364.

Warman ML, Abbott M, Apte SS, et al. (1993). "A type X collagen mutation causes Schmid metaphyseal chondrodysplasia". Nat. Genet. 5 (1): 79–82. doi:10.1038/ng0993-79. PMID 8220429. S2CID 196834.

Wallis GA, Rash B, Sweetman WA, et al. (1994). "Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid". Am. J. Hum. Genet. 54 (2): 169–78. PMC 1918153. PMID 8304336.

Pokharel RK, Alimsardjono H, Uno K, et al. (1996). "A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia". Biochem. Biophys. Res. Commun. 217 (3): 1157–62. doi:10.1006/bbrc.1995.2890. hdl:20.500.14094/D1001967. PMID 8554571.

Wallis GA, Rash B, Sykes B, et al. (1996). "Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia". J. Med. Genet. 33 (6): 450–7. doi:10.1136/jmg.33.6.450. PMC 1050629. PMID 8782043.

Stratakis CA, Orban Z, Burns AL, et al. (1997). "Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia". Biochem. Mol. Med. 59 (2): 112–7. doi:10.1006/bmme.1996.0075. PMID 8986632.

Beier F, Eerola I, Vuorio E, et al. (1997). "Variability in the upstream promoter and intron sequences of the human, mouse and chick type X collagen genes". Matrix Biol. 15 (6): 415–22. doi:10.1016/S0945-053X(96)90160-2. PMID 9049979.

Ikegawa S, Nakamura K, Nagano A, et al. (1997). "Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia". Hum. Mutat. 9 (2): 131–5. doi:10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C. PMID 9067753. S2CID 22871274.

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Collagen, type X, alpha 1

References

Further reading

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