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Aliases for COL4A5 Gene

Aliases for COL4A5 Gene

  • Collagen, Type IV, Alpha 5 2 3
  • ASLN 3 6
  • ATS 3 6
  • Collagen Of Basement Membrane, Alpha-5 Chain 3
  • Collagen IV, Alpha-5 Polypeptide 3
  • Collagen Alpha-5(IV) Chain 3
  • Collagen Type IV Alpha 5 3
  • Alport Syndrome 2
  • DA149D17.3 3
  • DA24A23.1 3
  • CA54 3

External Ids for COL4A5 Gene

Previous Symbols for COL4A5 Gene

  • ASLN
  • ATS

Summaries for COL4A5 Gene

Entrez Gene Summary for COL4A5 Gene

  • This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

GeneCards Summary for COL4A5 Gene

COL4A5 (Collagen, Type IV, Alpha 5) is a Protein Coding gene. Diseases associated with COL4A5 include malignant cylindroma and alport syndrome and thin basement membrane nephropathy. Among its related pathways are PI3K-Akt signaling pathway and Signaling by FGFR. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL4A5 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

Gene Wiki entry for COL4A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A5 Gene

Genomics for COL4A5 Gene

Genomic Location for COL4A5 Gene

Start:
108,439,771 bp from pter
End:
108,697,545 bp from pter
Size:
257,775 bases
Orientation:
Plus strand

Genomic View for COL4A5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL4A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL4A5 Gene

Regulatory Elements for COL4A5 Gene

Proteins for COL4A5 Gene

  • Protein details for COL4A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29400-CO4A5_HUMAN
    Recommended name:
    Collagen alpha-5(IV) chain
    Protein Accession:
    P29400
    Secondary Accessions:
    • Q16006
    • Q16126
    • Q6LD84
    • Q7Z700
    • Q9NUB7

    Protein attributes for COL4A5 Gene

    Size:
    1685 amino acids
    Molecular mass:
    161044 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

    Alternative splice isoforms for COL4A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL4A5 Gene

Proteomics data for COL4A5 Gene at MOPED

Post-translational modifications for COL4A5 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
  • 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 Asn125

Other Protein References for COL4A5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL4A5 Gene

Domains for COL4A5 Gene

Gene Families for COL4A5 Gene

HGNC:

UniProtKB/Swiss-Prot:

CO4A5_HUMAN
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:
    • P29400
  • Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain.:
    • P29400
Family:
  • Belongs to the type IV collagen family.:
    • P29400
genes like me logo Genes that share domains with COL4A5: view

Function for COL4A5 Gene

Molecular function for COL4A5 Gene

GENATLAS Biochemistry: collagen type IV,alpha 5,homotrimerizing and heterotrimerizing with COL4A3,COL4A4 kidney restricted,located in glomerular basement membrane,Bowman capsule,distal tubules,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

Gene Ontology (GO) - Molecular Function for COL4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
genes like me logo Genes that share ontologies with COL4A5: view
genes like me logo Genes that share phenotypes with COL4A5: view

miRNA for COL4A5 Gene

miRTarBase miRNAs that target COL4A5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for COL4A5 Gene

Localization for COL4A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL4A5 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL4A5 Gene COMPARTMENTS Subcellular localization image for COL4A5 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for COL4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005587 collagen type IV trimer IEA --
GO:0005604 basement membrane --
GO:0005605 basal lamina IEA --
genes like me logo Genes that share ontologies with COL4A5: view

Pathways for COL4A5 Gene

genes like me logo Genes that share pathways with COL4A5: view

Gene Ontology (GO) - Biological Process for COL4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007411 axon guidance TAS --
GO:0007528 neuromuscular junction development IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL4A5: view

Compounds for COL4A5 Gene

(5) Novoseek inferred chemical compound relationships for COL4A5 Gene

Compound -log(P) Hits PubMed IDs
mspi 40.2 2
arginine 13.2 3
valine 12.8 2
serine 0 1
cysteine 0 1
genes like me logo Genes that share compounds with COL4A5: view

Transcripts for COL4A5 Gene

Unigene Clusters for COL4A5 Gene

Collagen, type IV, alpha 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL4A5 Gene

No ASD Table

Relevant External Links for COL4A5 Gene

GeneLoc Exon Structure for
COL4A5
ECgene alternative splicing isoforms for
COL4A5

Expression for COL4A5 Gene

mRNA expression in normal human tissues for COL4A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL4A5 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (8.4) and Esophagus - Muscularis (6.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL4A5 Gene

SOURCE GeneReport for Unigene cluster for COL4A5 Gene Hs.369089

mRNA Expression by UniProt/SwissProt for COL4A5 Gene

P29400-CO4A5_HUMAN
Tissue specificity: Isoform 2 is found in kidney
genes like me logo Genes that share expressions with COL4A5: view

Orthologs for COL4A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL4A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL4A5 36
  • 99.62 (n)
  • 99.7 (a)
COL4A5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL4A5 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL4A5 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col4a5 36
  • 88.78 (n)
  • 90.74 (a)
Col4a5 16
Col4a5 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL4A5 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A5 37
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL4A5 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL4A5 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23713 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15674 36
zebrafish
(Danio rerio)
Actinopterygii col4a5 37
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vkg 37
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea emb-9 37
  • 48 (a)
ManyToMany
let-2 37
  • 50 (a)
ManyToMany
emb-9 38
  • 39 (a)
let-2 38
  • 66 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10972 37
  • 48 (a)
ManyToMany
CSA.6298 37
  • 45 (a)
ManyToMany
Species with no ortholog for COL4A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for COL4A5 Gene

ENSEMBL:
Gene Tree for COL4A5 (if available)
TreeFam:
Gene Tree for COL4A5 (if available)

Paralogs for COL4A5 Gene

genes like me logo Genes that share paralogs with COL4A5: view

Variants for COL4A5 Gene

Sequence variations from dbSNP and Humsavar for COL4A5 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs200519 -- 108,452,174(-) atcaa(C/T)ggaac intron-variant
rs200520 -- 108,452,042(-) tagcc(A/T)tatgt intron-variant
rs995581 -- 108,505,287(+) tgtac(A/G)ttatt intron-variant
rs1006269 Benign 108,622,665(-) ATCAA(C/T)GTGTG intron-variant
rs1028404 -- 108,627,271(+) TTAAG(A/G)GTAAG intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for COL4A5 Gene

Variant ID Type Subtype PubMed ID
nsv519041 CNV Gain 19592680
nsv7031 CNV Insertion 18451855

Relevant External Links for COL4A5 Gene

HapMap Linkage Disequilibrium report
COL4A5
Human Gene Mutation Database (HGMD)
COL4A5
Locus Specific Mutation Databases (LSDB)
COL4A5

Disorders for COL4A5 Gene

(1) OMIM Diseases for COL4A5 Gene (303630)

UniProtKB/Swiss-Prot

CO4A5_HUMAN
  • Alport syndrome, X-linked (APSX) [MIM:301050]: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269 PubMed:10094548, ECO:0000269 PubMed:10561141, ECO:0000269 PubMed:10563487, ECO:0000269 PubMed:10684360, ECO:0000269 PubMed:10862091, ECO:0000269 PubMed:11004279, ECO:0000269 PubMed:11223851, ECO:0000269 PubMed:1352287, ECO:0000269 PubMed:1363780, ECO:0000269 PubMed:1376965, ECO:0000269 PubMed:1672282, ECO:0000269 PubMed:24522658, ECO:0000269 PubMed:7599631, ECO:0000269 PubMed:7853788, ECO:0000269 PubMed:8406498, ECO:0000269 PubMed:8651292, ECO:0000269 PubMed:8651296, ECO:0000269 PubMed:8829632, ECO:0000269 PubMed:8940267, ECO:0000269 PubMed:9150741, ECO:0000269 PubMed:9452056, ECO:0000269 PubMed:9848783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).

(24) Novoseek inferred disease relationships for COL4A5 Gene

Disease -log(P) Hits PubMed IDs
alports syndrome 98.7 140
alport syndrome, x-linked 98.7 66
alport syndrome, autosomal recessive 91.2 1
lenticonus 89.8 4
hematuria benign familial 89.6 4

Relevant External Links for COL4A5

GeneTests
COL4A5
GeneReviews
COL4A5
Genetic Association Database (GAD)
COL4A5
Human Genome Epidemiology (HuGE) Navigator
COL4A5
genes like me logo Genes that share disorders with COL4A5: view

Publications for COL4A5 Gene

  1. De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. (PMID: 1363780) Renieri A. … de Marchi M. (Hum. Mol. Genet. 1992) 3 4 23
  2. Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. (PMID: 1376965) Knebelmann B. … Antignac C. (Am. J. Hum. Genet. 1992) 3 4 23
  3. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. (PMID: 7599631) Boye E. … Harris A. (Hum. Mutat. 1995) 3 4 23
  4. Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome. (PMID: 2004755) Zhou J. … Tryggvason K. (Genomics 1991) 3 4 23
  5. Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells. (PMID: 7853788) Nakazato H. … Matsuda I. (Kidney Int. 1994) 3 4 23

Products for COL4A5 Gene

Sources for COL4A5 Gene

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