Details for: COL4A1

Gene ID: 1282

Symbol: COL4A1

Ensembl ID: ENSG00000187498

Description: collagen type IV 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: embryonic stem cell (CL0002322)
    Fold Change: 128.5843
    Cell Significance Index: -52.9700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 123.9855
    Cell Significance Index: -50.3700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 111.5176
    Cell Significance Index: -52.6500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 52.8676
    Cell Significance Index: -50.4800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 18.1359
    Cell Significance Index: 122.8800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 17.9431
    Cell Significance Index: -39.2700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 11.6494
    Cell Significance Index: 606.8000
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 7.4800
    Cell Significance Index: 94.1900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 4.4380
    Cell Significance Index: 63.8300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 4.1586
    Cell Significance Index: 119.2100
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 3.7177
    Cell Significance Index: 23.1000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.1905
    Cell Significance Index: 85.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 3.1050
    Cell Significance Index: 60.6000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 2.3370
    Cell Significance Index: 14.1200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.3124
    Cell Significance Index: 26.2700
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 2.2083
    Cell Significance Index: 15.8600
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 2.0922
    Cell Significance Index: 9.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.9633
    Cell Significance Index: 150.6600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.9070
    Cell Significance Index: 31.4300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.5870
    Cell Significance Index: 23.4300
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 1.3025
    Cell Significance Index: 5.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2646
    Cell Significance Index: 70.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.2436
    Cell Significance Index: 32.7000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.2415
    Cell Significance Index: 170.4900
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 1.2334
    Cell Significance Index: 5.9000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.1581
    Cell Significance Index: 16.6300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.0374
    Cell Significance Index: 33.2300
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.7982
    Cell Significance Index: 4.2000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6613
    Cell Significance Index: 361.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.6410
    Cell Significance Index: 871.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.5512
    Cell Significance Index: 12.0700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.5270
    Cell Significance Index: 11.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.5223
    Cell Significance Index: 963.2000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3911
    Cell Significance Index: 602.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2998
    Cell Significance Index: 190.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2849
    Cell Significance Index: 102.1900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2366
    Cell Significance Index: 107.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2320
    Cell Significance Index: 46.5400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2161
    Cell Significance Index: 406.9200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1028
    Cell Significance Index: 19.5700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0999
    Cell Significance Index: 69.0700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0968
    Cell Significance Index: 1.6200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0834
    Cell Significance Index: 16.5600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0164
    Cell Significance Index: -7.2700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: -0.0306
    Cell Significance Index: -27.6000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0312
    Cell Significance Index: -22.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0535
    Cell Significance Index: -6.8600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0692
    Cell Significance Index: -52.3600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0727
    Cell Significance Index: -1.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0794
    Cell Significance Index: -58.8400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0882
    Cell Significance Index: -55.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1004
    Cell Significance Index: -56.6100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1198
    Cell Significance Index: -19.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1237
    Cell Significance Index: -17.9800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1304
    Cell Significance Index: -1.6700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1588
    Cell Significance Index: -16.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1762
    Cell Significance Index: -50.7100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1810
    Cell Significance Index: -1.5200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2110
    Cell Significance Index: -38.0400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.2700
    Cell Significance Index: -26.7100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.2817
    Cell Significance Index: -30.6400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2880
    Cell Significance Index: -60.6600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2937
    Cell Significance Index: -10.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2979
    Cell Significance Index: -18.3100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3018
    Cell Significance Index: -30.8300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3127
    Cell Significance Index: -21.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.3137
    Cell Significance Index: -53.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.3405
    Cell Significance Index: -41.8700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3851
    Cell Significance Index: -44.1200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3900
    Cell Significance Index: -50.3800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3955
    Cell Significance Index: -46.0900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.4540
    Cell Significance Index: -13.0800
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: -0.4663
    Cell Significance Index: -2.9200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4853
    Cell Significance Index: -34.3200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4883
    Cell Significance Index: -22.1400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.4886
    Cell Significance Index: -29.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5291
    Cell Significance Index: -15.1000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.5423
    Cell Significance Index: -4.3300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5440
    Cell Significance Index: -27.4900
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.5522
    Cell Significance Index: -5.7700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.5529
    Cell Significance Index: -38.2400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6596
    Cell Significance Index: -40.4400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6721
    Cell Significance Index: -53.2300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6852
    Cell Significance Index: -32.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.7067
    Cell Significance Index: -52.6700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.7665
    Cell Significance Index: -6.2500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.8302
    Cell Significance Index: -9.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8814
    Cell Significance Index: -22.6600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.9058
    Cell Significance Index: -31.4800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.9931
    Cell Significance Index: -31.4100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.0055
    Cell Significance Index: -52.7900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.0211
    Cell Significance Index: -25.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.0580
    Cell Significance Index: -49.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.0732
    Cell Significance Index: -23.2500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -1.1393
    Cell Significance Index: -15.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.1489
    Cell Significance Index: -59.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.1498
    Cell Significance Index: -30.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.1539
    Cell Significance Index: -51.0400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -1.1991
    Cell Significance Index: -21.1900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.2720
    Cell Significance Index: -31.7200

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:** 1. **Type IV collagen**: COL4A1 is a member of the type IV collagen family, which forms a network of basement membranes that separate epithelial and endothelial cells from the underlying stroma. 2. **ECM structural component**: COL4A1 is a critical component of the ECM, providing tensile strength and mechanical support to tissues. 3. **Multifunctional protein**: COL4A1 is involved in various cellular processes, including cell adhesion, migration, and differentiation. 4. **Signaling molecules**: COL4A1 interacts with numerous signaling molecules, including integrins, laminins, and growth factors, to regulate cellular behavior. **Pathways and Functions:** 1. **Anchoring fibril formation**: COL4A1 is essential for the formation of anchoring fibrils, which anchor the basement membrane to the underlying tissue. 2. **Assembly of collagen fibrils**: COL4A1 participates in the assembly of collagen fibrils, which provide structural integrity to the ECM. 3. **Cell adhesion and migration**: COL4A1 interacts with integrins and laminins to regulate cell adhesion and migration. 4. **Signaling by growth factors**: COL4A1 is involved in signaling by growth factors, such as PDGF and FGF, which regulate cellular behavior. 5. **Immune response**: COL4A1 is expressed on the surface of immune cells, such as macrophages and dendritic cells, and plays a role in modulating the immune response. **Signaling Pathways:** 1. **Collagen-activated tyrosine kinase receptor signaling pathway**: COL4A1 interacts with collagen receptors to regulate cellular behavior. 2. **Integrin cell surface interactions**: COL4A1 interacts with integrins to regulate cell adhesion and migration. 3. **Laminin interactions**: COL4A1 interacts with laminins to regulate cell adhesion and migration. 4. **Scavenger receptor interactions**: COL4A1 interacts with scavenger receptors to regulate the uptake of ligands. **Clinical Significance:** 1. **Alport syndrome**: Mutations in COL4A1 have been associated with Alport syndrome, a genetic disorder characterized by kidney disease, hearing loss, and eye abnormalities. 2. **Focal segmental glomerulosclerosis**: COL4A1 has been implicated in the development of focal segmental glomerulosclerosis, a kidney disease characterized by scarring and loss of kidney function. 3. **Cancer**: COL4A1 has been found to be overexpressed in various cancers, including breast, lung, and colon cancer. 4. **Cardiovascular disease**: COL4A1 has been implicated in the development of cardiovascular disease, including atherosclerosis and cardiac fibrosis. In conclusion, COL4A1 plays a critical role in maintaining the structure and function of the extracellular matrix, regulating cell behavior, and modulating the immune response. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of COL4A1 and its clinical significance.

Genular Protein ID: 4255595328

Symbol: CO4A1_HUMAN

Name: Arresten

UniProtKB Accession Codes:

P02462 A7E2W4 B1AM70 F5H5K0 Q1P9S9 Q5VWF6 Q86X41 Q8NF88 Q9NYC5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 57 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 13 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 14 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2701944

Title: Structural organization of the gene for the alpha 1 chain of human type IV collagen.

PubMed ID: 2701944

DOI: 10.1016/s0021-9258(18)80034-5

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 3311751

Title: Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domain.

PubMed ID: 3311751

DOI: 10.1111/j.1432-1033.1987.tb13450.x

PubMed ID: 3182844

Title: The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region.

PubMed ID: 3182844

DOI: 10.1016/s0021-9258(19)77818-1

PubMed ID: 4043082

Title: Amino acid sequence of the N-terminal aggregation and cross-linking region (7S domain) of the alpha 1 (IV) chain of human basement membrane collagen.

PubMed ID: 4043082

DOI: 10.1111/j.1432-1033.1985.tb09186.x

PubMed ID: 3691802

Title: Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen.

PubMed ID: 3691802

DOI: 10.1016/0014-5793(87)81155-9

PubMed ID: 6434307

Title: Structure of human-basement-membrane (type IV) collagen. Complete amino-acid sequence of a 914-residue-long pepsin fragment from the alpha 1(IV) chain.

PubMed ID: 6434307

DOI: 10.1111/j.1432-1033.1984.tb08404.x

PubMed ID: 2581969

Title: cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain.

PubMed ID: 2581969

DOI: 10.1016/s0021-9258(17)39662-x

PubMed ID: 2582422

Title: Restricted homology between human alpha 1 type IV and other procollagen chains.

PubMed ID: 2582422

DOI: 10.1073/pnas.82.11.3649

PubMed ID: 2844531

Title: The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.

PubMed ID: 2844531

DOI: 10.1111/j.1432-1033.1988.tb14321.x

PubMed ID: 10811134

Title: Anti-angiogenic cues from vascular basement membrane collagen.

PubMed ID: 10811134

PubMed ID: 16481288

Title: Construction of recombinant plasmid and prokaryotic expression in E. coli and biological activity analysis of human placenta arresten gene.

PubMed ID: 16481288

PubMed ID: 16151532

Title: Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.

PubMed ID: 16151532

DOI: 10.1172/jci24813

PubMed ID: 31895054

Title:

PubMed ID: 31895054

DOI: 10.1172/jci135305

PubMed ID: 18775695

Title: Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor.

PubMed ID: 18775695

DOI: 10.1016/j.yexcr.2008.08.011

PubMed ID: 22522439

Title: COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

PubMed ID: 22522439

DOI: 10.1002/ana.22682

PubMed ID: 22574627

Title: Childhood presentation of COL4A1 mutations.

PubMed ID: 22574627

DOI: 10.1111/j.1469-8749.2011.04198.x

PubMed ID: 23394911

Title: Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PubMed ID: 23394911

DOI: 10.1016/j.ajo.2012.11.028

PubMed ID: 23225343

Title: Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

PubMed ID: 23225343

DOI: 10.1002/ana.23736

PubMed ID: 25228067

Title: Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.

PubMed ID: 25228067

DOI: 10.1007/s00417-014-2800-6

PubMed ID: 24628545

Title: Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

PubMed ID: 24628545

DOI: 10.1111/cge.12379

PubMed ID: 27666438

Title: Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

PubMed ID: 27666438

DOI: 10.1002/ana.24782

PubMed ID: 28369186

Title: Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

PubMed ID: 28369186

DOI: 10.1093/brain/awx062

PubMed ID: 12011424

Title: The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link.

PubMed ID: 12011424

DOI: 10.1073/pnas.062183499

PubMed ID: 15905400

Title: Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PubMed ID: 15905400

DOI: 10.1126/science.1109418

PubMed ID: 16107487

Title: Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PubMed ID: 16107487

DOI: 10.1136/jmg.2005.035584

PubMed ID: 16598045

Title: Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PubMed ID: 16598045

DOI: 10.1056/nejmoa053727

PubMed ID: 17696175

Title: COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PubMed ID: 17696175

DOI: 10.1002/ana.21191

PubMed ID: 18160688

Title: COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PubMed ID: 18160688

DOI: 10.1056/nejmoa071906

PubMed ID: 17379824

Title: COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.

PubMed ID: 17379824

DOI: 10.1161/strokeaha.106.475194

PubMed ID: 19194877

Title: COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PubMed ID: 19194877

DOI: 10.1002/ana.21525

PubMed ID: 20818663

Title: Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.

PubMed ID: 20818663

DOI: 10.1002/ajmg.a.33659

PubMed ID: 20385946

Title: Ophthalmological features associated with COL4A1 mutations.

PubMed ID: 20385946

DOI: 10.1001/archophthalmol.2010.42

PubMed ID: 19477666

Title: A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

PubMed ID: 19477666

DOI: 10.1016/j.ejpn.2009.04.010

PubMed ID: 21527998

Title: Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

PubMed ID: 21527998

Sequence Information:

  • Length: 1669
  • Mass: 160611
  • Checksum: 3BEBA6DFFB9B8A84
  • Sequence:
    • MGPRLSVWLL LLPAALLLHE EHSRAAAKGG CAGSGCGKCD CHGVKGQKGE RGLPGLQGVI 
GFPGMQGPEG PQGPPGQKGD TGEPGLPGTK GTRGPPGASG YPGNPGLPGI PGQDGPPGPP 
GIPGCNGTKG ERGPLGPPGL PGFAGNPGPP GLPGMKGDPG EILGHVPGML LKGERGFPGI 
PGTPGPPGLP GLQGPVGPPG FTGPPGPPGP PGPPGEKGQM GLSFQGPKGD KGDQGVSGPP 
GVPGQAQVQE KGDFATKGEK GQKGEPGFQG MPGVGEKGEP GKPGPRGKPG KDGDKGEKGS 
PGFPGEPGYP GLIGRQGPQG EKGEAGPPGP PGIVIGTGPL GEKGERGYPG TPGPRGEPGP 
KGFPGLPGQP GPPGLPVPGQ AGAPGFPGER GEKGDRGFPG TSLPGPSGRD GLPGPPGSPG 
PPGQPGYTNG IVECQPGPPG DQGPPGIPGQ PGFIGEIGEK GQKGESCLIC DIDGYRGPPG 
PQGPPGEIGF PGQPGAKGDR GLPGRDGVAG VPGPQGTPGL IGQPGAKGEP GEFYFDLRLK 
GDKGDPGFPG QPGMPGRAGS PGRDGHPGLP GPKGSPGSVG LKGERGPPGG VGFPGSRGDT 
GPPGPPGYGP AGPIGDKGQA GFPGGPGSPG LPGPKGEPGK IVPLPGPPGA EGLPGSPGFP 
GPQGDRGFPG TPGRPGLPGE KGAVGQPGIG FPGPPGPKGV DGLPGDMGPP GTPGRPGFNG 
LPGNPGVQGQ KGEPGVGLPG LKGLPGLPGI PGTPGEKGSI GVPGVPGEHG AIGPPGLQGI 
RGEPGPPGLP GSVGSPGVPG IGPPGARGPP GGQGPPGLSG PPGIKGEKGF PGFPGLDMPG 
PKGDKGAQGL PGITGQSGLP GLPGQQGAPG IPGFPGSKGE MGVMGTPGQP GSPGPVGAPG 
LPGEKGDHGF PGSSGPRGDP GLKGDKGDVG LPGKPGSMDK VDMGSMKGQK GDQGEKGQIG 
PIGEKGSRGD PGTPGVPGKD GQAGQPGQPG PKGDPGISGT PGAPGLPGPK GSVGGMGLPG 
TPGEKGVPGI PGPQGSPGLP GDKGAKGEKG QAGPPGIGIP GLRGEKGDQG IAGFPGSPGE 
KGEKGSIGIP GMPGSPGLKG SPGSVGYPGS PGLPGEKGDK GLPGLDGIPG VKGEAGLPGT 
PGPTGPAGQK GEPGSDGIPG SAGEKGEPGL PGRGFPGFPG AKGDKGSKGE VGFPGLAGSP 
GIPGSKGEQG FMGPPGPQGQ PGLPGSPGHA TEGPKGDRGP QGQPGLPGLP GPMGPPGLPG 
IDGVKGDKGN PGWPGAPGVP GPKGDPGFQG MPGIGGSPGI TGSKGDMGPP GVPGFQGPKG 
LPGLQGIKGD QGDQGVPGAK GLPGPPGPPG PYDIIKGEPG LPGPEGPPGL KGLQGLPGPK 
GQQGVTGLVG IPGPPGIPGF DGAPGQKGEM GPAGPTGPRG FPGPPGPDGL PGSMGPPGTP 
SVDHGFLVTR HSQTIDDPQC PSGTKILYHG YSLLYVQGNE RAHGQDLGTA GSCLRKFSTM 
PFLFCNINNV CNFASRNDYS YWLSTPEPMP MSMAPITGEN IRPFISRCAV CEAPAMVMAV 
HSQTIQIPPC PSGWSSLWIG YSFVMHTSAG AEGSGQALAS PGSCLEEFRS APFIECHGRG 
TCNYYANAYS FWLATIERSE MFKKPTPSTL KAGELRTHVS RCQVCMRRT

Genular Protein ID: 1642549698

Symbol: A5PKV2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A5PKV2

Database IDs:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 2

Citations:

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

Sequence Information:

  • Length: 519
  • Mass: 50184
  • Checksum: FD8319AAFDBF46B2
  • Sequence:
    • MGPRLSLWLL LLPAALLLHE EHSRAAAKGG CAGSGCGKCD CHGVKGQKGE RGLPGLQGVI 
GFPGMQGPEG PQGPPGQKGD TGEPGLPGTK GTRGPPGASG YPGNPGLPGI PGQDGPPGPP 
GIPGCNGTKG ERGPLGPPGL PGFAGNPGPP GLPGMKGDPG EILGHVPGML LKGERGFPGI 
PGTPGPPGLP GLQGPVGPPG FTGPPGPPGP PGPPGEKGQM GLSFQGPKGD KGDQGVSGPP 
GVPGQAQVQE KGDFATKGEK GQKAEPGFQG MPGVGEKGEP GKPGPRGKPG KDGDKGEKGS 
PGFPGEPGYP GLIGRQGPQG EKGEAGPPGP PGIVIGTGPL GEKGERGYPG TPGPRGEPGP 
KGFPGLPGQP GPPGLPVPGQ AGAPGFPGER GEKGDRGFPG TSLPGPSGRD GLPGPPGSPG 
PPGQPGYTNG IVECQPGPPG DQGPPGIPGQ PGFIGEIGEK GQKGESCLIC DIDGYRGPPG 
PQGPPGEIGF PGQPGAKGDR GLPGRDGVAG VPLLFQIHK

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.