Aliases for COL4A1 Gene
Aliases for COL4A1 Gene
External Ids for COL4A1 Gene
- HGNC: 2202
- Entrez Gene: 1282
- Ensembl: ENSG00000187498
- OMIM: 120130
- UniProtKB: P02462
Previous GeneCards Identifiers for COL4A1 Gene
- GC13M109161
- GC13M105188
- GC13M109638
- GC13M108499
- GC13M109599
- GC13M110801
- GC13M091400
Summaries for COL4A1 Gene
-
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GeneCards Summary for COL4A1 Gene
COL4A1 (Collagen Type IV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL4A1 include Brain Small Vessel Disease With Or Without Ocular Anomalies and Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity. An important paralog of this gene is COL4A5.
UniProtKB/Swiss-Prot for COL4A1 Gene
-
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.
-
Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A1 Gene
Genomics for COL4A1 Gene
Regulatory Elements for COL4A1 Gene
Enhancers for COL4A1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COL4A1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for COL4A1 Gene
- Chromosome:
- 13
- Start:
- 110,148,958 bp from pter
- End:
- 110,307,157 bp from pter
- Size:
- 158,200 bases
- Orientation:
- Minus strand
Genomic View for COL4A1 Gene
Genes around COL4A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q34 by Ensembl
- 13q34 by Entrez Gene
- 13q34 by HGNC
COL4A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL4A1 Gene
Proteins for COL4A1 Gene
-
Protein details for COL4A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P02462-CO4A1_HUMAN
- Recommended name:
- Collagen alpha-1(IV) chain
- Protein Accession:
- P02462
- A7E2W4
- B1AM70
- Q1P9S9
- Q5VWF6
- Q86X41
- Q8NF88
- Q9NYC5
Protein attributes for COL4A1 Gene
- Size:
- 1669 amino acids
- Molecular mass:
- 160615 Da
- Quaternary structure:
-
- 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.
Protein Expression for COL4A1 Gene
Selected DME Specific Peptides for COL4A1 Gene
- P02462:
-
- GFPGPQG
- VTGLVGI
Post-translational modifications for COL4A1 Gene
- Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in all cases and bind carbohydrates.
- Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
- Proteolytic processing produces the C-terminal NC1 peptide, arresten.
- The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.
- 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 collagens.
- Glycosylation at posLast=126126
- Modification sites at PhosphoSitePlus
Other Protein References for COL4A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top COL4A1 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for COL4A1
- R&D Systems Antibodies for COL4A1 (Collagen IV alpha 1)
-
Custom Antibody ServicesOriGene Antibodies for COL4A1
- Novus Biologicals Antibodies for COL4A1
-
Cloud-Clone Corp. Antibodies for COL4A1
- Invitrogen Antibodies for COL4A1
- antibodies-online Antibodies for COL4A1: See all 38
- GeneTex COL4A1 antibody for COL4A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL4A1
Protein Products
- EMD Millipore Purified and/or Recombinant COL4A1 Protein
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL4A1
- Origene Custom Protein Services for COL4A1
- Novus Biologicals proteins for COL4A1
-
Cloud-Clone Corp. Proteins for COL4A1
- antibodies-online Proteins for COL4A1: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for COL4A1
Assay Products
- EMD Millipore Kits and Assays for COL4A1
- R&D Systems Luminex Assays and other biochemical assays for COL4A1 (Collagen IV alpha 1)
-
Cloud-Clone Corp Assay Kits for COL4A1
- antibodies-online Kits for COL4A1: See all 35
Domains & Families for COL4A1 Gene
Gene Families for COL4A1 Gene
- HGNC:
Protein Domains for COL4A1 Gene
Suggested Antigen Peptide Sequences for COL4A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P02462UniProtKB/Swiss-Prot:
CO4A1_HUMAN :- 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 domain.
- Belongs to the type IV collagen family.
- Domain:
-
- 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 domain.
- Family:
-
- Belongs to the type IV collagen family.
Function for COL4A1 Gene
Molecular function for COL4A1 Gene
- GENATLAS Biochemistry:
- collagen type IV,alpha 1,basement membrane,all tissues,expressed in the dermoepidermal junction during fetal skin development
- UniProtKB/Swiss-Prot Function:
- 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.
- UniProtKB/Swiss-Prot Function:
- Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin.
Enzyme Numbers (IUBMB) for COL4A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IMP | 16107487 |
| GO:0005515 | protein binding | IPI | 12011424 |
| GO:0030023 | extracellular matrix constituent conferring elasticity | IC | 16107487 |
| GO:0048407 | platelet-derived growth factor binding | IDA | 8900172 |
Phenotypes for COL4A1 Gene
- MGI mutant phenotypes for COL4A1:
-
inferred from 13 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- reproductive system phenotype
- vision/eye phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- GenomeRNAi human phenotypes for COL4A1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Increased cell death HMECs cells
Animal Model Products
-
Taconic Biosciences Mouse Models for COL4A1
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL4A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for COL4A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A1 gene
- Search ViGene Biosciences for COL4A1
CRISPR Products
-
OriGene CRISPR knockouts for COL4A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL4A1
- GenScript: Design CRISPR guide RNA sequences for COL4A1
miRNA for COL4A1 Gene
- miRTarBase miRNAs that target COL4A1
-
- hsa-mir-29c-3p (MIRT001927)
- hsa-mir-29a-3p (MIRT003221)
- hsa-mir-29b-3p (MIRT005568)
- hsa-mir-21-5p (MIRT006821)
- hsa-mir-124-3p (MIRT022172)
- hsa-mir-218-5p (MIRT024242)
- hsa-mir-769-3p (MIRT039089)
- hsa-mir-18a-3p (MIRT040877)
- hsa-mir-193b-3p (MIRT041389)
- hsa-mir-125a-5p (MIRT045748)
- hsa-mir-100-5p (MIRT048584)
- hsa-mir-99a-5p (MIRT048676)
- hsa-mir-92a-3p (MIRT049483)
- hsa-mir-16-5p (MIRT051073)
- hsa-mir-637 (MIRT054906)
- hsa-mir-767-5p (MIRT437564)
- hsa-mir-6808-3p (MIRT494153)
- hsa-mir-5682 (MIRT494154)
- hsa-mir-542-3p (MIRT494155)
- hsa-mir-4504 (MIRT494156)
- hsa-mir-3185 (MIRT494157)
- hsa-mir-6871-3p (MIRT494158)
- hsa-mir-4716-5p (MIRT494159)
- hsa-mir-562 (MIRT494160)
- hsa-mir-7-2-3p (MIRT494161)
- hsa-mir-7-1-3p (MIRT494162)
- hsa-mir-5688 (MIRT494163)
- hsa-mir-495-3p (MIRT494164)
- hsa-mir-758-3p (MIRT524405)
- hsa-mir-335-3p (MIRT704504)
- hsa-mir-1305 (MIRT704505)
- hsa-mir-498 (MIRT704506)
- hsa-mir-8070 (MIRT704507)
- hsa-mir-421 (MIRT704508)
- hsa-mir-505-3p (MIRT704509)
- hsa-mir-7159-5p (MIRT704510)
- hsa-mir-4693-5p (MIRT704511)
- hsa-mir-4709-5p (MIRT704512)
- hsa-mir-4272 (MIRT704513)
- hsa-mir-892a (MIRT704514)
- hsa-mir-4318 (MIRT704515)
miRNA Products
- Search ViGene Biosciences for COL4A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL4A1
- Browse OriGene Inhibitory RNA Products For COL4A1
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for COL4A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL4A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
- ESI BIO PureStem ES-210, Ecto-ntu Progenitor for COL4A1
-
Horizon Cell Lines for COL4A1
-
ViGene Biosciences adenoviral particle packaged cDNA for COL4A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for COL4A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A1 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10870) for COL4A1
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for COL4A1 Gene
Localization for COL4A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL4A1 Gene
- Secreted, extracellular space, extracellular matrix, basement membrane.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| nucleus | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005587 | collagen type IV trimer | IMP | 16107487 |
| GO:0005604 | basement membrane | IC | 23065703 |
Pathways & Interactions for COL4A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | ECM-receptor interaction | ||
| 5 | Focal Adhesion |
.62
|
.62
|
Pathways by source for COL4A1 Gene
4 BioSystems pathways for COL4A1 Gene
15 Reactome pathways for COL4A1 Gene
1 PharmGKB pathway for COL4A1 Gene
8 KEGG pathways for COL4A1 Gene
5 GeneGo (Thomson Reuters) pathways for COL4A1 Gene
3 R&D Systems pathways for COL4A1 Gene
15 Qiagen pathways for COL4A1 Gene
Interacting Proteins for COL4A1 Gene
Selected Interacting proteins:
P02462-CO4A1_HUMAN
ENSP00000364979
for COL4A1 Gene via
MINT
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001569 | branching involved in blood vessel morphogenesis | IMP | 20818663 |
| GO:0007420 | brain development | IMP | 16107487 |
| GO:0007528 | neuromuscular junction development | IEA | -- |
| GO:0030198 | extracellular matrix organization | TAS | -- |
| GO:0030574 | collagen catabolic process | TAS | -- |
No data available for SIGNOR curated interactions for COL4A1 Gene
Transcripts for COL4A1 Gene
mRNA/cDNA for COL4A1 Gene
- (3) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (685) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL4A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL4A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL4A1
- GenScript: Design CRISPR guide RNA sequences for COL4A1
miRNA Products
- Search ViGene Biosciences for COL4A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL4A1
- Browse OriGene Inhibitory RNA Products For COL4A1
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for COL4A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL4A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10870) for COL4A1
Expression for COL4A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Dermis (Integumentary System)
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Heart (Cardiovascular System)
- Subepicardial Cells Epicardium
- Kidney (Urinary System)
- Hypoblast (Extraembryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for COL4A1 Gene
This gene is overexpressed in Artery - Coronary (x4.8) and Artery - Tibial (x4.2).
This gene is overexpressed in Amniocyte (24.5), Gallbladder (7.0), Colon muscle (6.3), and Adipocyte (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL4A1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COL4A1 Gene:
COL4A1SOURCE GeneReport for Unigene cluster for COL4A1 Gene:
Hs.17441mRNA Expression by UniProt/SwissProt for COL4A1 Gene:
P02462-CO4A1_HUMAN
Tissue specificity:
Highly expressed in placenta.
Evidence on tissue expression from TISSUES for COL4A1 Gene
- Nervous system(4.6)
- Liver(4.3)
- Lung(3.5)
- Heart(3.4)
- Kidney(3.2)
- Pancreas(3)
- Eye(2.6)
- Muscle(2.5)
- Intestine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL4A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- outer ear
- pituitary gland
- skull
- tongue
Thorax:
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- intestine
- kidney
- large intestine
Pelvis:
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for COL4A1
Orthologs for COL4A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL4A1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | COL4A1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col4a1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Col4a1 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | COL4A1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COL4A1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL4A1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL4A1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL4A1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col4a1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col4a1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cg25C 36 |
|
|
|
| vkg 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | let-2 36 35 |
|
||
| emb-9 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10972 35 |
|
ManyToMany | |
| CSA.6298 35 |
|
ManyToMany | |||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3677 34 |
|
- Species where no ortholog for COL4A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for COL4A1 Gene
Paralogs for COL4A1 Gene
(8) SIMAP similar genes for COL4A1 Gene using alignment to 3 proteins:
Variants for COL4A1 Gene
| SNP ID | Clin | Chr 13 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_030028 | Brain small vessel disease with or without ocular anomalies (BSVD) [MIM:607595] | ||||
| VAR_030029 | Porencephaly 1 (POREN1) [MIM:175780] | ||||
| VAR_030030 | Porencephaly 1 (POREN1) [MIM:175780] | ||||
| VAR_030031 | Porencephaly 1 (POREN1) [MIM:175780] | ||||
| VAR_030032 | Porencephaly 1 (POREN1) [MIM:175780] |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv241n27 | CNV | loss | 19166990 |
| dgv3391n54 | CNV | loss | 21841781 |
| esv1710742 | CNV | deletion | 17803354 |
| esv2741067 | CNV | deletion | 23290073 |
| esv2748000 | CNV | deletion | 23290073 |
| esv2748001 | CNV | deletion | 23290073 |
| esv2748002 | CNV | deletion | 23290073 |
| esv2748003 | CNV | deletion | 23290073 |
| esv27869 | CNV | loss | 19812545 |
| esv3081 | CNV | loss | 18987735 |
| esv3551075 | CNV | deletion | 23714750 |
| esv3551076 | CNV | deletion | 23714750 |
| nsv1038914 | CNV | loss | 25217958 |
| nsv1046423 | CNV | gain | 25217958 |
| nsv1052147 | CNV | gain | 25217958 |
| nsv1070197 | CNV | deletion | 25765185 |
| nsv1134350 | CNV | deletion | 24896259 |
| nsv1138269 | CNV | deletion | 24896259 |
| nsv1145695 | CNV | deletion | 24896259 |
| nsv1182 | CNV | deletion | 18451855 |
| nsv456115 | CNV | loss | 19166990 |
| nsv520696 | CNV | loss | 19592680 |
| nsv521901 | CNV | loss | 19592680 |
| nsv523051 | CNV | loss | 19592680 |
| nsv563100 | CNV | loss | 21841781 |
| nsv563101 | CNV | loss | 21841781 |
| nsv563104 | CNV | gain | 21841781 |
| nsv563105 | CNV | gain | 21841781 |
| nsv64357 | CNV | deletion | 16902084 |
| nsv957463 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
1.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.09;
95.09% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for COL4A1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A1 Gene
Disorders for COL4A1 Gene
(25) MalaCards diseases for COL4A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brain small vessel disease with or without ocular anomalies |
|
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| angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps |
|
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| retinal arteries, tortuosity of |
|
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| porencephaly 1 |
|
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| hemorrhage, intracerebral |
|
Search COL4A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO4A1_HUMAN- Brain small vessel disease with or without ocular anomalies (BSVD) [MIM:607595]: An autosomal dominant disease characterized by weakening of the blood vessels in the brain and retinal arteriolar tortuosity. In affected individuals, stroke is often the first symptom and is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke). Patients also have leukoencephalopathy and may experience seizures and migraine headaches accompanied by visual sensations known as auras. {ECO:0000269 PubMed:16598045, ECO:0000269 PubMed:17379824, ECO:0000269 PubMed:17696175, ECO:0000269 PubMed:19477666, ECO:0000269 PubMed:20385946, ECO:0000269 PubMed:22574627, ECO:0000269 PubMed:23394911, ECO:0000269 PubMed:24628545}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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. {ECO:0000269 PubMed:18160688, ECO:0000269 PubMed:20818663}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. {ECO:0000269 PubMed:22522439}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Porencephaly 1 (POREN1) [MIM:175780]: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. {ECO:0000269 PubMed:15905400, ECO:0000269 PubMed:16107487, ECO:0000269 PubMed:19194877}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Schizencephaly (SCHZC) [MIM:269160]: Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. {ECO:0000269 PubMed:23225343}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Tortuosity of retinal arteries (RATOR) [MIM:180000]: A disease characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma. {ECO:0000269 PubMed:25228067}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for COL4A1
No data available for Genatlas for COL4A1 Gene
Publications for COL4A1 Gene
- COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. (PMID: 19194877) de Vries L.S. … Mancini G. (Ann. Neurol. 2009) 3 4 22 64
- Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor. (PMID: 18775695) Nyberg P. … Kalluri R. (Exp. Cell Res. 2008) 3 4 22 64
- Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population. (PMID: 18077766) Yamada Y. … Nozawa Y. (J. Med. Genet. 2008) 3 22 46 64
- COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. (PMID: 18160688) Plaisier E. … Ronco P. (N. Engl. J. Med. 2007) 3 4 22 64
- Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin. (PMID: 16151532) Sudhakar A. … Kalluri R. (J. Clin. Invest. 2005) 3 4 22 64
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Sources for COL4A1 Gene
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