This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely r... See more...

Aliases for COL5A1 Gene

Aliases for COL5A1 Gene

  • Collagen Type V Alpha 1 Chain 2 3 5
  • Collagen Alpha-1(V) Chain 3 4
  • Collagen, Type V, Alpha 1 3
  • Alpha 1 Type V Collagen 2
  • Collagen Type V Alpha 1 2
  • EC 2.7.7.6 54
  • EC 6.1.1 54
  • EDSCL1 3
  • EDSC 3

External Ids for COL5A1 Gene

Previous GeneCards Identifiers for COL5A1 Gene

  • GC09P128683
  • GC09P129302
  • GC09P131056
  • GC09P132972
  • GC09P134759
  • GC09P136673
  • GC09P137533
  • GC09P106996

Summaries for COL5A1 Gene

Entrez Gene Summary for COL5A1 Gene

  • This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

GeneCards Summary for COL5A1 Gene

COL5A1 (Collagen Type V Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL5A1 include Ehlers-Danlos Syndrome, Classic Type, 1 and Classic Ehlers-Danlos Syndrome. Among its related pathways are ERK Signaling and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is COL11A1.

UniProtKB/Swiss-Prot Summary for COL5A1 Gene

  • Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.

Gene Wiki entry for COL5A1 Gene

Additional gene information for COL5A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL5A1 Gene

Genomics for COL5A1 Gene

GeneHancer (GH) Regulatory Elements for COL5A1 Gene

Promoters and enhancers for COL5A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL5A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL5A1 gene promoter:
  • AhR
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • Arnt
  • C/EBPalpha
  • Max1
  • RORalpha2

Genomic Locations for COL5A1 Gene

Genomic Locations for COL5A1 Gene
chr9:134,641,774-134,844,843
(GRCh38/hg38)
Size:
203,070 bases
Orientation:
Plus strand
chr9:137,533,620-137,736,689
(GRCh37/hg19)
Size:
203,070 bases
Orientation:
Plus strand

Genomic View for COL5A1 Gene

Genes around COL5A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL5A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL5A1 Gene

Proteins for COL5A1 Gene

  • Protein details for COL5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20908-CO5A1_HUMAN
    Recommended name:
    Collagen alpha-1(V) chain
    Protein Accession:
    P20908
    Secondary Accessions:
    • A0A087WXW9
    • Q15094
    • Q5SUX4

    Protein attributes for COL5A1 Gene

    Size:
    1838 amino acids
    Molecular mass:
    183560 Da
    Quaternary structure:
    • Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta. Interacts with CSPG4.

    Three dimensional structures from OCA and Proteopedia for COL5A1 Gene

    Alternative splice isoforms for COL5A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL5A1 Gene

Selected DME Specific Peptides for COL5A1 Gene

P20908:
  • KSEGARI
  • VDAEGNPV

Post-translational modifications for COL5A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Sulfated on 40% of tyrosines.
  • Glycosylation at Asn176, Asn1672, and Asn1741
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CO5A1_HUMAN (1128)

Other Protein References for COL5A1 Gene

Antibody Products

  • Boster Bio Antibodies for COL5A1

Domains & Families for COL5A1 Gene

Gene Families for COL5A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for COL5A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen type V alpha 1 (B2ZZ86_HUMAN)
  • Collagen alpha-1(V) chain (CO5A1_HUMAN)
  • Collagen, type V, alpha 1 (Q5JR39_HUMAN)
  • Alpha-1 type V collagen (Q9UML4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20908

UniProtKB/Swiss-Prot:

CO5A1_HUMAN :
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Belongs to the fibrillar collagen family.
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL5A1: view

Function for COL5A1 Gene

Molecular function for COL5A1 Gene

UniProtKB/Swiss-Prot Function:
Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
GENATLAS Biochemistry:
collagen type V,alpha 1,fibril forming,incorporated into,and contributing to regulate the shape and diameter of type I collagen fibrils;cleaved by BMP1 within the large globular N-propeptide

Enzyme Numbers (IUBMB) for COL5A1 Gene

Phenotypes From GWAS Catalog for COL5A1 Gene

Gene Ontology (GO) - Molecular Function for COL5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding NAS 14970208
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IPI 20979576
GO:0008201 heparin binding IBA,IDA 2203476
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 20551380
genes like me logo Genes that share ontologies with COL5A1: view
genes like me logo Genes that share phenotypes with COL5A1: view

Human Phenotype Ontology for COL5A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL5A1 Gene

MGI Knock Outs for COL5A1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for COL5A1 Gene

Localization for COL5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL5A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL5A1 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 2
mitochondrion 1
peroxisome 0
nucleus 0
cytosol 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COL5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
GO:0005581 collagen trimer IEA --
GO:0005588 collagen type V trimer IMP,TAS 9683580
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with COL5A1: view

Pathways & Interactions for COL5A1 Gene

PathCards logo

SuperPathways for COL5A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Phospholipase-C Pathway
.56
.56
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with COL5A1: view

Pathways by source for COL5A1 Gene

1 KEGG pathway for COL5A1 Gene
15 Qiagen pathways for COL5A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for COL5A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COL5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0007155 cell adhesion IBA,IMP 18305566
GO:0016477 cell migration IMP 18305566
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL5A1: view

Drugs & Compounds for COL5A1 Gene

(1) Drugs for COL5A1 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecasermin Approved, Investigational Pharma 108
genes like me logo Genes that share compounds with COL5A1: view

Transcripts for COL5A1 Gene

mRNA/cDNA for COL5A1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL5A1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13: - -
SP14:
SP15:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d ^ 35a · 35b · 35c
SP1:
SP2:
SP3: - - - -
SP4:
SP5: - - - -
SP6:
SP7: - - - -
SP8: -
SP9: - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for COL5A1 Gene

GeneLoc Exon Structure for
COL5A1
ECgene alternative splicing isoforms for
COL5A1

Expression for COL5A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL5A1 Gene

This gene is overexpressed in Uterus (x4.2) and Cervix - Ectocervix (x4.0).

Protein differential expression in normal tissues from HIPED for COL5A1 Gene

This gene is overexpressed in Amniocyte (29.6), Bone marrow mesenchymal stem cell (16.9), and Bone marrow stromal cell (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COL5A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of COL5A1 Gene:

COL5A1

SOURCE GeneReport for Unigene cluster for COL5A1 Gene:

Hs.210283

Evidence on tissue expression from TISSUES for COL5A1 Gene

  • Eye(2.9)
  • Skin(2.9)
  • Nervous system(2.9)
  • Pancreas(2.7)
  • Bone(2.6)
  • Lung(2.5)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL5A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
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
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COL5A1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for COL5A1 Gene

Orthologs for COL5A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL5A1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia COL5A1 33
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL5A1 33
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL5A1 33
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col5a1 32
  • 85.86 (n)
mouse
(Mus musculus)
Mammalia Col5a1 17 33 32
  • 85.84 (n)
cow
(Bos Taurus)
Mammalia COL5A1 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL5A1 33 32
  • 77.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL5A1 33
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col5a1 32
  • 73.03 (n)
Str.15319 32
zebrafish
(Danio rerio)
Actinopterygii col5a1 33 32
  • 73.66 (n)
OneToOne
Dr.17775 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12219 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 64 (a)
OneToMany
Species where no ortholog for COL5A1 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COL5A1 Gene

ENSEMBL:
Gene Tree for COL5A1 (if available)
TreeFam:
Gene Tree for COL5A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL5A1: view image

Paralogs for COL5A1 Gene

(12) SIMAP similar genes for COL5A1 Gene using alignment to 5 proteins:

  • CO5A1_HUMAN
  • B2ZZ86_HUMAN
  • H7BY82_HUMAN
  • L8E771_HUMAN
  • Q9UML4_HUMAN
genes like me logo Genes that share paralogs with COL5A1: view

Variants for COL5A1 Gene

Sequence variations from dbSNP and Humsavar for COL5A1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1001786208 uncertain-significance, Ehlers-Danlos syndrome, classic type 134,802,940(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1018752469 likely-benign, Ehlers-Danlos syndrome, classic type 134,804,965(+) C/T intron_variant
rs1027866868 uncertain-significance, Ehlers-Danlos syndrome, classic type 134,701,168(+) C/T intron_variant
rs1029930975 likely-benign, Ehlers-Danlos syndrome, classic type, not specified 134,642,223(+) G/A/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1030105888 uncertain-significance, Cardiovascular phenotype 134,796,416(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COL5A1 Gene

Variant ID Type Subtype PubMed ID
dgv1272e201 CNV deletion 23290073
dgv12976n54 CNV gain 21841781
dgv12977n54 CNV loss 21841781
dgv12978n54 CNV loss 21841781
dgv4162n106 CNV deletion 24896259
dgv498e215 CNV deletion 23714750
dgv7724n100 CNV gain 25217958
dgv7725n100 CNV gain 25217958
esv1302373 CNV deletion 17803354
esv1304752 CNV deletion 17803354
esv2052149 CNV deletion 18987734
esv2390401 CNV deletion 18987734
esv24238 CNV loss 19812545
esv2493043 CNV insertion 19546169
esv2739138 CNV deletion 23290073
esv2739233 CNV deletion 23290073
esv2739234 CNV deletion 23290073
esv2739235 CNV deletion 23290073
esv2739237 CNV deletion 23290073
esv2739238 CNV deletion 23290073
esv2739240 CNV deletion 23290073
esv2739241 CNV deletion 23290073
esv2739242 CNV deletion 23290073
esv2739243 CNV deletion 23290073
esv2739244 CNV deletion 23290073
esv2739245 CNV deletion 23290073
esv2739246 CNV deletion 23290073
esv2739247 CNV deletion 23290073
esv2743401 CNV deletion 23290073
esv3329148 CNV duplication 20981092
esv3368487 CNV duplication 20981092
esv3411214 CNV duplication 20981092
esv3415982 CNV duplication 20981092
esv3417267 CNV duplication 20981092
esv3428896 CNV duplication 20981092
esv3545605 CNV deletion 23714750
esv3621967 CNV gain 21293372
nsv1043726 CNV gain 25217958
nsv1077196 CNV deletion 25765185
nsv1120579 CNV tandem duplication 24896259
nsv1122247 CNV deletion 24896259
nsv1125319 OTHER inversion 24896259
nsv1137675 CNV deletion 24896259
nsv1139377 CNV deletion 24896259
nsv1141038 CNV deletion 24896259
nsv1141039 CNV deletion 24896259
nsv1148811 CNV deletion 26484159
nsv1150766 CNV insertion 26484159
nsv1152220 CNV deletion 26484159
nsv416329 CNV deletion 16902084
nsv428227 CNV gain 18775914
nsv466640 CNV loss 19166990
nsv469910 CNV loss 18288195
nsv475718 CNV novel sequence insertion 20440878
nsv510207 OTHER sequence alteration 20534489
nsv513000 CNV insertion 21212237
nsv615829 CNV gain 21841781
nsv615830 CNV gain 21841781
nsv615836 CNV loss 21841781
nsv615839 CNV loss 21841781
nsv615840 CNV loss 21841781
nsv615841 CNV loss 21841781
nsv6753 CNV deletion 18451855
nsv818731 CNV gain 17921354
nsv951813 CNV deletion 24416366
nsv951814 CNV deletion 24416366
nsv956105 CNV deletion 24416366

Variation tolerance for COL5A1 Gene

Residual Variation Intolerance Score: 2.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.73; 73.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL5A1 Gene

Human Gene Mutation Database (HGMD)
COL5A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL5A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL5A1 Gene

Disorders for COL5A1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for COL5A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO5A1_HUMAN
  • Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant. {ECO:0000269 PubMed:10602121, ECO:0000269 PubMed:11992482, ECO:0000269 PubMed:15580559, ECO:0000269 PubMed:18972565, ECO:0000269 PubMed:9042913}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL5A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COL5A1: view

No data available for Genatlas for COL5A1 Gene

Publications for COL5A1 Gene

  1. Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. (PMID: 18353721) Posthumus M … Collins M (Journal of science and medicine in sport 2009) 3 23 43 56
  2. The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. (PMID: 19654427) Posthumus M … Collins M (The American journal of sports medicine 2009) 3 23 43 56
  3. Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. (PMID: 18443036) September AV … Collins M (British journal of sports medicine 2009) 3 23 43 56
  4. Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. (PMID: 19042922) Raleigh SM … Collins M (British journal of sports medicine 2009) 3 23 43 56
  5. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. (PMID: 18972565) Symoens S … De Paepe A (Human mutation 2009) 3 4 23 56

Products for COL5A1 Gene

  • Boster Bio Antibodies for COL5A1
  • Boster Bio ELISA Kits for COL5A1

Sources for COL5A1 Gene