Details for: COL8A1

Gene ID: 1295

Symbol: COL8A1

Ensembl ID: ENSG00000144810

Description: collagen type VIII 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: mucosal type mast cell (CL0000485)
    Fold Change: 37.7347
    Cell Significance Index: -15.3300
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 3.8841
    Cell Significance Index: 59.0900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 3.2207
    Cell Significance Index: 46.2500
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 2.1775
    Cell Significance Index: 27.4200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.4172
    Cell Significance Index: 27.6600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.8857
    Cell Significance Index: 9.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.7253
    Cell Significance Index: 18.1300
  • Cell Name: endothelial stalk cell (CL0002671)
    Fold Change: 0.6854
    Cell Significance Index: 7.6800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6107
    Cell Significance Index: 19.5600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.3511
    Cell Significance Index: 17.7400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2684
    Cell Significance Index: 3.8600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2233
    Cell Significance Index: 42.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2056
    Cell Significance Index: 9.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1873
    Cell Significance Index: 24.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1267
    Cell Significance Index: 3.5400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1049
    Cell Significance Index: 94.7400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0820
    Cell Significance Index: 56.7400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0728
    Cell Significance Index: 7.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0496
    Cell Significance Index: 22.5300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0417
    Cell Significance Index: 0.6400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0374
    Cell Significance Index: 6.0900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0352
    Cell Significance Index: 7.0700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0345
    Cell Significance Index: 15.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0177
    Cell Significance Index: 1.3600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0116
    Cell Significance Index: 7.3700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0051
    Cell Significance Index: 0.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0015
    Cell Significance Index: -1.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0016
    Cell Significance Index: -2.9800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0027
    Cell Significance Index: -2.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0062
    Cell Significance Index: -11.5000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0074
    Cell Significance Index: -4.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0095
    Cell Significance Index: -1.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0096
    Cell Significance Index: -7.1100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0135
    Cell Significance Index: -20.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0173
    Cell Significance Index: -9.7400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0177
    Cell Significance Index: -24.0900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0182
    Cell Significance Index: -0.6400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0230
    Cell Significance Index: -4.8400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0333
    Cell Significance Index: -0.9600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0353
    Cell Significance Index: -12.6700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0364
    Cell Significance Index: -6.5600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0364
    Cell Significance Index: -19.8800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0466
    Cell Significance Index: -5.0700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0548
    Cell Significance Index: -10.8700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0582
    Cell Significance Index: -9.9400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0585
    Cell Significance Index: -16.8400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0631
    Cell Significance Index: -8.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0677
    Cell Significance Index: -8.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0965
    Cell Significance Index: -11.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0995
    Cell Significance Index: -6.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1114
    Cell Significance Index: -14.4000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1186
    Cell Significance Index: -8.2000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1317
    Cell Significance Index: -2.0900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1325
    Cell Significance Index: -15.1300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1328
    Cell Significance Index: -7.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1356
    Cell Significance Index: -13.8500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1566
    Cell Significance Index: -9.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1613
    Cell Significance Index: -16.8000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1680
    Cell Significance Index: -11.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1717
    Cell Significance Index: -3.7200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1986
    Cell Significance Index: -22.7500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2003
    Cell Significance Index: -15.8600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2145
    Cell Significance Index: -4.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2352
    Cell Significance Index: -17.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2531
    Cell Significance Index: -15.9500
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.2575
    Cell Significance Index: -2.7700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2616
    Cell Significance Index: -17.5900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2647
    Cell Significance Index: -17.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2759
    Cell Significance Index: -16.9600
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.2834
    Cell Significance Index: -3.1000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2924
    Cell Significance Index: -15.2300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3077
    Cell Significance Index: -6.4400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3160
    Cell Significance Index: -14.8500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3369
    Cell Significance Index: -8.6600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3518
    Cell Significance Index: -15.5600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3560
    Cell Significance Index: -8.8800
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.3978
    Cell Significance Index: -3.8400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4003
    Cell Significance Index: -15.1600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4026
    Cell Significance Index: -21.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4064
    Cell Significance Index: -8.6600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4091
    Cell Significance Index: -14.3300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4148
    Cell Significance Index: -13.2100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4169
    Cell Significance Index: -5.9700
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.4191
    Cell Significance Index: -2.4600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4201
    Cell Significance Index: -6.3300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4208
    Cell Significance Index: -21.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4257
    Cell Significance Index: -19.8500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.4289
    Cell Significance Index: -18.6500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4364
    Cell Significance Index: -12.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4544
    Cell Significance Index: -15.7900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4604
    Cell Significance Index: -8.5100
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: -0.4628
    Cell Significance Index: -4.2000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4664
    Cell Significance Index: -15.2700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4857
    Cell Significance Index: -17.8300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.5740
    Cell Significance Index: -11.6800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6097
    Cell Significance Index: -13.3500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6311
    Cell Significance Index: -18.5900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6378
    Cell Significance Index: -18.2000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.6478
    Cell Significance Index: -20.4900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.6498
    Cell Significance Index: -16.2100

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:** COL8A1 is a type of collagen, specifically a fibril-associated collagen, which is characterized by its ability to form trimeric structures with other collagen chains. Its unique structure and expression pattern enable it to participate in various biological processes, including cell adhesion, angiogenesis, and the organization of the extracellular matrix. COL8A1 is also involved in the degradation and remodeling of the extracellular matrix, which is essential for tissue repair and regeneration. **Pathways and Functions:** COL8A1 plays a crucial role in several biological pathways, including: 1. **Angiogenesis:** COL8A1 is involved in the formation of new blood vessels, which is essential for tissue repair and regeneration. 2. **Assembly of Collagen Fibrils:** COL8A1 participates in the formation of collagen fibrils, which provide structural integrity to tissues. 3. **Cell Adhesion:** COL8A1 interacts with integrins and other cell surface molecules, facilitating cell adhesion and migration. 4. **Extracellular Matrix Organization:** COL8A1 helps to organize the extracellular matrix, which is essential for maintaining tissue structure and function. 5. **Degradation of the Extracellular Matrix:** COL8A1 is involved in the degradation of the extracellular matrix, which is necessary for tissue repair and remodeling. **Clinical Significance:** COL8A1 has been implicated in various diseases, including: 1. **Corneal Endothelial Dysfunction:** Mutations in COL8A1 have been associated with corneal endothelial dysfunction, which can lead to corneal edema and vision loss. 2. **Angiogenesis-Related Disorders:** COL8A1 has been implicated in angiogenesis-related disorders, including cancer and vascular diseases. 3. **Fibrotic Diseases:** COL8A1 has been associated with fibrotic diseases, including pulmonary fibrosis and liver fibrosis. 4. **Cardiac Diseases:** COL8A1 has been implicated in cardiac diseases, including heart failure and arrhythmias. In conclusion, COL8A1 is a multifaceted gene that plays a crucial role in various biological processes, including angiogenesis, cell adhesion, and the organization of the extracellular matrix. Its clinical significance has been implicated in various diseases, highlighting the importance of further research into the functions and dysregulation of COL8A1.

Genular Protein ID: 197277814

Symbol: CO8A1_HUMAN

Name: Collagen alpha-1(VIII) chain

UniProtKB Accession Codes:

P27658 D3DN42 Q53XI6 Q96D07

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 3 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 5 RefSeq 2 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2029894

Title: The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3.

PubMed ID: 2029894

DOI: 10.1111/j.1432-1033.1991.tb15951.x

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: 2376131

Title: Distribution of type VIII collagen in tissues: an immunohistochemical study.

PubMed ID: 2376131

DOI: 10.3109/03008209009152157

PubMed ID: 1515454

Title: Cleavage of type VIII collagen by human neutrophil elastase.

PubMed ID: 1515454

DOI: 10.1016/0925-4439(92)90103-t

PubMed ID: 7734329

Title: Human mast cells produce type VIII collagen in vivo.

PubMed ID: 7734329

PubMed ID: 10686422

Title: The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo.

PubMed ID: 10686422

DOI: 10.1016/s0945-053x(99)00053-0

PubMed ID: 11708810

Title: NC1 domain of human type VIII collagen (alpha 1) inhibits bovine aortic endothelial cell proliferation and causes cell apoptosis.

PubMed ID: 11708810

DOI: 10.1006/bbrc.2001.5970

PubMed ID: 14990571

Title: Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers.

PubMed ID: 14990571

DOI: 10.1074/jbc.m305805200

PubMed ID: 17888087

Title: Collagen type VIII expression in human diabetic nephropathy.

PubMed ID: 17888087

DOI: 10.1111/j.1365-2362.2007.01864.x

Sequence Information:

  • Length: 744
  • Mass: 73364
  • Checksum: 2BC1B0955DE2C9A3
  • Sequence:
    • MAVLPGPLQL LGVLLTISLS SIRLIQAGAY YGIKPLPPQI PPQMPPQIPQ YQPLGQQVPH 
MPLAKDGLAM GKEMPHLQYG KEYPHLPQYM KEIQPAPRMG KEAVPKKGKE IPLASLRGEQ 
GPRGEPGPRG PPGPPGLPGH GIPGIKGKPG PQGYPGVGKP GMPGMPGKPG AMGMPGAKGE 
IGQKGEIGPM GIPGPQGPPG PHGLPGIGKP GGPGLPGQPG PKGDRGPKGL PGPQGLRGPK 
GDKGFGMPGA PGVKGPPGMH GPPGPVGLPG VGKPGVTGFP GPQGPLGKPG APGEPGPQGP 
IGVPGVQGPP GIPGIGKPGQ DGIPGQPGFP GGKGEQGLPG LPGPPGLPGI GKPGFPGPKG 
DRGMGGVPGA LGPRGEKGPI GAPGIGGPPG EPGLPGIPGP MGPPGAIGFP GPKGEGGIVG 
PQGPPGPKGE PGLQGFPGKP GFLGEVGPPG MRGLPGPIGP KGEAGQKGVP GLPGVPGLLG 
PKGEPGIPGD QGLQGPPGIP GIGGPSGPIG PPGIPGPKGE PGLPGPPGFP GIGKPGVAGL 
HGPPGKPGAL GPQGQPGLPG PPGPPGPPGP PAVMPPTPPP QGEYLPDMGL GIDGVKPPHA 
YGAKKGKNGG PAYEMPAFTA ELTAPFPPVG APVKFNKLLY NGRQNYNPQT GIFTCEVPGV 
YYFAYHVHCK GGNVWVALFK NNEPVMYTYD EYKKGFLDQA SGSAVLLLRP GDRVFLQMPS 
EQAAGLYAGQ YVHSSFSGYL LYPM

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.