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Aliases & Descriptions for COL4A1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| Arresten 3 | | OTTHUMP00000018698 2 | | arresten 2 |
| | | Descriptions |
|---|
| COL4A1 NC1 domain 2 | | alpha 1 type IV collagen 2 | | collagen IV, alpha-1 polypeptide 2 | | collagen of basement membrane, alpha-1 chain 2 | | collagen, type IV, alpha 1 2 |
|
| | Search outside databases for aliases for COL4A1 genePrevious GC identifers: GC13M109161 GC13M105188 GC13M109638 GC13M108499 |
Summaries for COL4A1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for COL4A1: This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq] UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Potently inhibits endothelial cell proliferation and angiogenesis. Inhibits angiogenesis potentially via mechanisms involving cell surface proteoglycans and the alpha and beta integrins of endothelial cellsGene Wiki entry for COL4A1 (Collagen%2C_type_IV%2C_alpha_1) |
Genomic Location for COL4A1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the COL4A1 gene 
Entrez Gene cytogenetic band: 13q34 Ensembl cytogenetic band: 13q34 HGNC cytogenetic band: 13q34COL4A1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 13 GeneLoc Exon Structure GeneLoc location for GC13M109599:
(about GC identifiers)
Start:
|
109,599,311 bp from pter |
End:
|
109,757,497 bp from pter |
Size:
|
158,187 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000013.9 NT_009952.14
| Proteins for COL4A1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462 (See
protein sequence)Recommended Name: Collagen alpha-1(IV) chain precursor Size: 1669 amino acids; 160615 Da
Subunit: There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
PDB structures from and Proteopedia :1LI1 (3D)
 
Secondary accessions: A7E2W4 B1AM70 Q1P9S9 Q5VWF6 Q86X41 Q8NF88 Q9NYC5Alternative splicing: 2 isoforms: P02462-1 P02462-2 Post-translational modifications:
Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in all cases and bind carbohydrates1
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains1
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens1
The trimeric structure of the NC1 domains may be stabilized by covalent bonds between Lys and Met residues1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001836.2
ENSEMBL proteins: ENSP00000380382 ENSP00000364973 ENSP00000354105 ENSP00000364979
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for COL4A1: Assays for COL4A1: | Protein
Domains/ Families for COL4A1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P02462
ProtoNet protein and cluster: P02462 3 Blocks protein families: IPB001442 Type 4 procollagen IPB008160 Collagen triple helix repeat IPB008161 Collagen helix repeat
UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462Domain: Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domainSimilarity: Belongs to the type IV collagen familySimilarity: Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain | Gene Function for COL4A1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001845
Applied Biosystems Silencer® siRNAs for COL4A1
Sigma-Aldrich siRNA for COL4A1  Sigma-Aldrich shRNA Panels and shRNA for COL4A1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001845                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001845                                  untagged cDNA clone in CMV expression vector: NM_001845 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001845
UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Potently inhibits endothelial cell proliferation and angiogenesis. Inhibits angiogenesis potentially via mechanisms involving cell surface proteoglycans and the alpha and beta integrins of endothelial cellsGenatlas biochemistry entry for COL4A1:collagen type IV,alpha 1,basement membrane,all tissues,expressed in the dermoepidermal junction during fetal skin development11 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Col4a1):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005201 | extracellular matrix structural constituent |
IEA | -- | | GO:0005488 | binding |
IEA | -- | About this table | Pathways & Interactions for COL4A1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/91 Interacting proteins for COL4A1 (ENSP000003649733 P024622) via UniProtKB, MINT, and/or STRING (see all 91
)About this table
|
Drugs & Compounds for COL4A1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for COL4A1 2 Novoseek chemical compound relationships for COL4A1 gene
About this table
|
Transcripts for COL4A1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001845
Sigma-Aldrich siRNA for COL4A1  Sigma-Aldrich shRNA Panels and shRNA for COL4A1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001845 REFSEQ mRNAs for COL4A1 gene: NM_001845.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001845               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001845                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001845                                  untagged cDNA clone in CMV expression vector: NM_001845  Additional cDNA sequence: AB209646.1 AF258349.1 AF363672.1 AF400431.1 AF536207.1 AY285780.1 BC047305.1 BC142626.1 BC151220.1 CR593711.1 DQ464183.1 EU260121.1 M10940.1 M10941.1 M11315.1 X03963.1 X05561.1 Y00706.1 20 DOTS entries: DT.452612 DT.100686990 DT.100796397 DT.100796389 DT.95242820 DT.402672 DT.95242796 DT.100796390 DT.100030647 DT.100796398 DT.102838671 DT.121627343 DT.85104942 DT.86855614 DT.95185880 DT.95258962 DT.97784947 DT.99958932 DT.95177824 DT.97809583 24/685 AceView cDNA sequences (see all 685
):AF400431 BP338896 AA337576 BQ083525 BI092437 AW273009 CA425542 BG939825 BM712591 AW515625 AI922605 AW014980 AW273358 AW103104 AA678230 W78140 CA447680 BQ084460 AI683543 AA347635 AA114883 AW272975 BQ774173 R22979
highest scoring ESTs for COL4A1:AA948682 M11315 AL572880 X05561 AA031483 AA031504 AA031550 AA035471 AA037507 AA039800 Unigene Cluster for COL4A1: Collagen, type IV, alpha 1 Hs.17441 [show with all ESTs]Unigene Representative Sequence: NM_001845
GeneLoc Exon Structure
4 Ensembl transcripts including schematic representations: ENST00000397198
ENST00000375815
ENST00000360859
ENST00000375820
|
Expression for COL4A1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| COL4A1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for COL4A1
1 / 2 / 3 7 probe-sets matching COL4A1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GACCGCAGGA
SOURCE GeneReport for Unigene cluster: Hs.17441
Expression variation in blood from EXPOLDB for COL4A1 UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462Tissue specificity: Highly expressed in placenta |
Orthologs for COL4A1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for COL4A1 gene from 5/9 species (see all 9
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
COL4A11 |
-- |
collagen, type IV, alpha 1 |
84.12(n) 89.99(a) |
403496 XM_534182.2 XP_534182.2 |
cow (Bos taurus) |
COL4A11 |
-- |
collagen, type IV, alpha 1 |
83.4(n) 89.75(a) |
282191 XM_580317.3 XP_580317.3 |
rat (Rattus norvegicus) |
Col4a11 |
-- |
collagen, type IV, alpha 1 |
84.1(n) 90.83(a) |
290905 XM_214400.4 XP_214400.3 |
mouse (Mus musculus) |
Col4a11, 5 |
8 (5.00 cM)5
|
collagen, type IV, alpha 11, 5 |
83.44(n)1 90.65(a)1 |
128261 NM_009931.11 NP_034061.11 AK1420975 AK1464875 (see all 34) |
chicken (Gallus gallus) |
COL4A11 |
-- |
collagen, type IV, alpha 1 |
69.84(n) 74.62(a) |
395530 XM_416951.2 XP_416951.2 |
About this table Species with no ortholog for COL4A1
ENSEMBL Gene Tree for COL4A1 | Paralogs for COL4A1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for COL4A1 gene
- COL4A32 COL22A12 COL4A52
|
SNPs/Variants for COL4A1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for COL4A1 (up to first 250kb)
|
Disorders & Mutations for COL4A1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 120130 disorders: 175780 607595 611773 607595 UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462
Defects in COL4A1 are a cause of brain small vessel disease with hemorrhage [MIM:607595]. Brain small vessel diseases underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. Inheritance is autosomal dominant Defects in COL4A1 are the cause of hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [MIM:611773]. The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries Defects in COL4A1 are a cause of porencephaly type 1 [MIM:175780]; also known as encephaloclastic porencephaly. Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Inheritance is autosomal dominant5 Novoseek disease relationships for COL4A1 gene
About this table
Human Gene Mutation Database: COL4A1 Genetic Association Database: COL4A1 Human Genome Epidemiology Navigator: COL4A1 (2 documents)
|
Medical News for COL4A1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for COL4A1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/114 PubMed articles for COL4A1 gene (see all 114
):- Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen. (PubMed id 3691802)2, 3, 4 Soininen R.... Tryggvason K. (1987)
- COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. (PubMed id 18160688)1, 3, 4 Plaisier E....Ronco P. (2007)
- Anti-angiogenic cues from vascular basement membrane collagen. (PubMed id 10811134)1, 3, 4 Colorado P.C.... Kalluri R. (2000)
- Role of COL4A1 in small-vessel disease and hemorrhagic stroke. (PubMed id 16598045)3, 4 Gould D.B....John S.W.M. (2006)
- Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. (PubMed id 16107487)3, 4 Breedveld G.... Mancini G.M.S. (2006)
- Construction of recombinant plasmid and prokaryotic expression in E. coli and biological activity analysis of human placenta arresten gene. (PubMed id 16481288)3, 4 Zheng J.P.... Wu T.C. (2006)
- Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. (PubMed id 15905400)3, 4 Gould D.B....John S.W.M. (2005)
- Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. (PubMed id 15081423)3, 6 Suzuki A....Kamoi K. (2004)
- The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)3, 4 Dunham A.... Ross M.T. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
|
Search for COL4A1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing COL4A1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing COL4A1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing COL4A1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for COL4A1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for COL4A1:

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Incremental update: 13 Oct 2009
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