Details for: COL10A1

Gene ID: 1300

Symbol: COL10A1

Ensembl ID: ENSG00000123500

Description: collagen type X alpha 1 chain

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.9214
    Cell Significance Index: 13.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5409
    Cell Significance Index: 107.3500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5338
    Cell Significance Index: 107.0700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4395
    Cell Significance Index: 33.7300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3728
    Cell Significance Index: 10.7400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.2985
    Cell Significance Index: 18.3000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2786
    Cell Significance Index: 5.9600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2772
    Cell Significance Index: 12.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2699
    Cell Significance Index: 10.2200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1144
    Cell Significance Index: 79.1000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0706
    Cell Significance Index: 63.7300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0582
    Cell Significance Index: 107.3400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0529
    Cell Significance Index: 15.2400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0510
    Cell Significance Index: 7.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0501
    Cell Significance Index: 77.1700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0344
    Cell Significance Index: 64.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0334
    Cell Significance Index: 6.0200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0179
    Cell Significance Index: 0.4800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0074
    Cell Significance Index: 10.0700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0067
    Cell Significance Index: 0.3100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0060
    Cell Significance Index: 0.3000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0058
    Cell Significance Index: 0.5800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0013
    Cell Significance Index: 0.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0008
    Cell Significance Index: 0.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0035
    Cell Significance Index: -2.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0096
    Cell Significance Index: -4.3400
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0187
    Cell Significance Index: -0.2400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0197
    Cell Significance Index: -14.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0253
    Cell Significance Index: -13.7900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0273
    Cell Significance Index: -1.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0274
    Cell Significance Index: -15.4600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0280
    Cell Significance Index: -17.4900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0351
    Cell Significance Index: -5.7100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0373
    Cell Significance Index: -4.7800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0412
    Cell Significance Index: -1.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0455
    Cell Significance Index: -8.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0612
    Cell Significance Index: -7.5300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0782
    Cell Significance Index: -16.4700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0963
    Cell Significance Index: -16.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0985
    Cell Significance Index: -13.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1072
    Cell Significance Index: -11.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1124
    Cell Significance Index: -3.9500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1152
    Cell Significance Index: -3.2200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1250
    Cell Significance Index: -5.8300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1257
    Cell Significance Index: -16.2400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1481
    Cell Significance Index: -16.9700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1586
    Cell Significance Index: -16.2100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1673
    Cell Significance Index: -2.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1833
    Cell Significance Index: -6.0000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1918
    Cell Significance Index: -6.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1926
    Cell Significance Index: -12.9500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2012
    Cell Significance Index: -8.7500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2085
    Cell Significance Index: -2.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2088
    Cell Significance Index: -4.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2148
    Cell Significance Index: -13.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2178
    Cell Significance Index: -16.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2198
    Cell Significance Index: -7.7000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2313
    Cell Significance Index: -4.9100
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.2350
    Cell Significance Index: -2.2500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2364
    Cell Significance Index: -3.7500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2454
    Cell Significance Index: -12.7500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2585
    Cell Significance Index: -13.5700
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.2616
    Cell Significance Index: -3.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2743
    Cell Significance Index: -12.8900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2765
    Cell Significance Index: -3.4900
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.3065
    Cell Significance Index: -4.3600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3128
    Cell Significance Index: -6.2800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3231
    Cell Significance Index: -10.2200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3477
    Cell Significance Index: -14.2500
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.3629
    Cell Significance Index: -3.8300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3760
    Cell Significance Index: -9.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3820
    Cell Significance Index: -5.4700
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.3870
    Cell Significance Index: -5.0000
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.3896
    Cell Significance Index: -4.0300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3900
    Cell Significance Index: -4.2400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3966
    Cell Significance Index: -7.7400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.4018
    Cell Significance Index: -10.0200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4119
    Cell Significance Index: -15.1200
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4168
    Cell Significance Index: -8.7000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.4205
    Cell Significance Index: -7.2700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4208
    Cell Significance Index: -11.2400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4243
    Cell Significance Index: -8.3900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4258
    Cell Significance Index: -9.2000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4294
    Cell Significance Index: -4.0700
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.4346
    Cell Significance Index: -4.2700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.4394
    Cell Significance Index: -8.9400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4537
    Cell Significance Index: -6.1900
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.4571
    Cell Significance Index: -5.9200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4586
    Cell Significance Index: -5.2100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4627
    Cell Significance Index: -7.9300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.4632
    Cell Significance Index: -11.2200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.4657
    Cell Significance Index: -6.6300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4830
    Cell Significance Index: -11.7900
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.4876
    Cell Significance Index: -6.5000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4929
    Cell Significance Index: -14.0700
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.4931
    Cell Significance Index: -5.8100
  • Cell Name: group 3 innate lymphoid cell, human (CL0001078)
    Fold Change: -0.4974
    Cell Significance Index: -4.6600
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.4992
    Cell Significance Index: -3.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5133
    Cell Significance Index: -12.8300
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.5147
    Cell Significance Index: -10.1300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The COL10A1 gene is a single-copy gene that is highly conserved across species. It is located on chromosome 13q12.3 and spans approximately 30 kilobases. The protein product of COL10A1, collagen type X alpha 1 chain, is a 32-kDa trimeric protein composed of three alpha helical chains. The trimer is stabilized by non-covalent interactions between the three chains, which are rich in hydroxylated proline and hydroxylysine residues. This unique structure allows collagen type X to form stable fibrils and interact with other ECM components, such as collagen type II and type VIII. **Pathways and Functions** Collagen type X alpha 1 chain is involved in various ECM-related pathways, including: 1. **Assembly of collagen fibrils and other multimeric structures**: Collagen type X plays a critical role in the formation of collagen fibrils, which are essential for maintaining the integrity and strength of cartilaginous tissues. 2. **Collagen biosynthesis and modifying enzymes**: COL10A1 is involved in the biosynthesis of collagen type X, as well as the modification of other collagen types, such as type II and type VIII. 3. **Collagen chain trimerization**: The trimeric structure of collagen type X is stabilized by non-covalent interactions between the three alpha helical chains. 4. **Collagen degradation**: Collagen type X is involved in the degradation of the ECM by matrix metalloproteinases (MMPs) and other proteases. 5. **Endoplasmic reticulum lumen**: COL10A1 is synthesized in the endoplasmic reticulum (ER) and is then transported to the Golgi apparatus for modification and packaging. **Clinical Significance** Mutations or alterations in the expression of COL10A1 have been implicated in several diseases, including: 1. **Osteogenesis imperfecta**: A genetic disorder characterized by fragile bones and ECM defects. 2. **Arthritis**: Collagen type X alpha 1 chain is involved in the pathogenesis of osteoarthritis and rheumatoid arthritis. 3. **Cardiovascular disease**: Alterations in COL10A1 expression have been linked to cardiovascular disease, including atherosclerosis and cardiac fibrosis. 4. **Cancer**: Collagen type X alpha 1 chain is involved in the metastasis and progression of various cancers, including breast and lung cancer. In conclusion, COL10A1 is a critical gene that plays a significant role in the formation and maintenance of the ECM. Mutations or alterations in the expression of COL10A1 have been implicated in various diseases, highlighting the importance of this gene in maintaining tissue homeostasis and preventing disease. Further research is needed to fully understand the function and clinical significance of COL10A1.

Genular Protein ID: 403753198

Symbol: COAA1_HUMAN

Name: Collagen alpha-1(X) chain

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1764025

Title: The human collagen X gene. Complete primary translated sequence and chromosomal localization.

PubMed ID: 1764025

DOI: 10.1042/bj2800617

PubMed ID: 1397333

Title: Genomic organization and full-length cDNA sequence of human collagen X.

PubMed ID: 1397333

DOI: 10.1016/0014-5793(92)81126-7

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1587271

Title: Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10.

PubMed ID: 1587271

DOI: 10.1111/j.1432-1033.1992.tb16919.x

PubMed ID: 2037056

Title: Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6.

PubMed ID: 2037056

DOI: 10.1016/0014-5793(91)80521-4

PubMed ID: 1743401

Title: In situ hybridization studies on the expression of type X collagen in fetal human cartilage.

PubMed ID: 1743401

DOI: 10.1016/0012-1606(91)90274-7

PubMed ID: 11839302

Title: Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.

PubMed ID: 11839302

DOI: 10.1016/s0969-2126(02)00697-4

PubMed ID: 9101290

Title: 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.

PubMed ID: 9101290

DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9

PubMed ID: 8304336

Title: 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.

PubMed ID: 8304336

PubMed ID: 8004099

Title: Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

PubMed ID: 8004099

DOI: 10.1093/hmg/3.2.303

PubMed ID: 7876225

Title: 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.

PubMed ID: 7876225

DOI: 10.1074/jbc.270.9.4558

PubMed ID: 7607655

Title: Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.

PubMed ID: 7607655

DOI: 10.1007/bf00214187

PubMed ID: 8782043

Title: 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.

PubMed ID: 8782043

DOI: 10.1136/jmg.33.6.450

PubMed ID: 9067753

Title: Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia.

PubMed ID: 9067753

DOI: 10.1002/(sici)1098-1004(1997)9:2<131::aid-humu5>3.0.co;2-c

PubMed ID: 9837818

Title: Mutation of the type X collagen gene 'COL10A1' causes spondylometaphyseal dysplasia.

PubMed ID: 9837818

DOI: 10.1086/302158

PubMed ID: 9852679

Title: Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

PubMed ID: 9852679

DOI: 10.1007/s100380050085

PubMed ID: 15880705

Title: Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

PubMed ID: 15880705

DOI: 10.1002/humu.20183

Sequence Information:

  • Length: 680
  • Mass: 66158
  • Checksum: E2F98E53E7882459
  • Sequence:
  • MLPQIPFLLL VSLNLVHGVF YAERYQMPTG IKGPLPNTKT QFFIPYTIKS KGIAVRGEQG 
    TPGPPGPAGP RGHPGPSGPP GKPGYGSPGL QGEPGLPGPP GPSAVGKPGV PGLPGKPGER 
    GPYGPKGDVG PAGLPGPRGP PGPPGIPGPA GISVPGKPGQ QGPTGAPGPR GFPGEKGAPG 
    VPGMNGQKGE MGYGAPGRPG ERGLPGPQGP TGPSGPPGVG KRGENGVPGQ PGIKGDRGFP 
    GEMGPIGPPG PQGPPGERGP EGIGKPGAAG APGQPGIPGT KGLPGAPGIA GPPGPPGFGK 
    PGLPGLKGER GPAGLPGGPG AKGEQGPAGL PGKPGLTGPP GNMGPQGPKG IPGSHGLPGP 
    KGETGPAGPA GYPGAKGERG SPGSDGKPGY PGKPGLDGPK GNPGLPGPKG DPGVGGPPGL 
    PGPVGPAGAK GMPGHNGEAG PRGAPGIPGT RGPIGPPGIP GFPGSKGDPG SPGPPGPAGI 
    ATKGLNGPTG PPGPPGPRGH SGEPGLPGPP GPPGPPGQAV MPEGFIKAGQ RPSLSGTPLV 
    SANQGVTGMP VSAFTVILSK AYPAIGTPIP FDKILYNRQQ HYDPRTGIFT CQIPGIYYFS 
    YHVHVKGTHV WVGLYKNGTP VMYTYDEYTK GYLDQASGSA IIDLTENDQV WLQLPNAESN 
    GLYSSEYVHS SFSGFLVAPM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.