This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fib... See more...

Aliases for COL16A1 Gene

Aliases for COL16A1 Gene

  • Collagen Type XVI Alpha 1 Chain 2 3 5
  • Collagen Alpha-1(XVI) Chain 3 4
  • Collagen, Type XVI, Alpha 1 2 3
  • Collagen XVI, Alpha-1 Polypeptide 3
  • Alpha 1 Type XVI Collagen 3
  • FP1572 3
  • 447AA 3

External Ids for COL16A1 Gene

Previous GeneCards Identifiers for COL16A1 Gene

  • GC01M031925
  • GC01M031102
  • GC01M031544
  • GC01M031620
  • GC01M031786
  • GC01M031890
  • GC01M032117
  • GC01M030235

Summaries for COL16A1 Gene

Entrez Gene Summary for COL16A1 Gene

  • This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL16A1 Gene

COL16A1 (Collagen Type XVI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL16A1 include Potter's Syndrome. Among its related pathways are ERK Signaling and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is COL5A1.

UniProtKB/Swiss-Prot Summary for COL16A1 Gene

  • Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology.

Gene Wiki entry for COL16A1 Gene

Additional gene information for COL16A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL16A1 Gene

Genomics for COL16A1 Gene

GeneHancer (GH) Regulatory Elements for COL16A1 Gene

Promoters and enhancers for COL16A1 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 COL16A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL16A1

Top Transcription factor binding sites by QIAGEN in the COL16A1 gene promoter:
  • GATA-3
  • HOXA5
  • IRF-1
  • ISGF-3
  • MIF-1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • PPAR-alpha
  • PPAR-gamma1

Genomic Locations for COL16A1 Gene

Genomic Locations for COL16A1 Gene
chr1:31,652,247-31,704,319
(GRCh38/hg38)
Size:
52,073 bases
Orientation:
Minus strand
chr1:32,117,848-32,169,920
(GRCh37/hg19)
Size:
52,073 bases
Orientation:
Minus strand

Genomic View for COL16A1 Gene

Genes around COL16A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL16A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL16A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL16A1 Gene

Proteins for COL16A1 Gene

  • Protein details for COL16A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07092-COGA1_HUMAN
    Recommended name:
    Collagen alpha-1(XVI) chain
    Protein Accession:
    Q07092
    Secondary Accessions:
    • Q16593
    • Q59F89
    • Q71RG9

    Protein attributes for COL16A1 Gene

    Size:
    1604 amino acids
    Molecular mass:
    157751 Da
    Quaternary structure:
    • Homotrimer. Interacts with FBN1, fibronectin and integrins ITGA1/ITGB1 and ITGA2/ITGB1. Integrin ITGA1/ITGB1 binds to a unique site within COL16A1 located close to its C-terminal end between collagenous domains COL1-COL3.

    Alternative splice isoforms for COL16A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL16A1 Gene

Post-translational modifications for COL16A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylated.
  • Glycosylation at Asn47 and Asn327
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • COGA1_HUMAN (1133)

No data available for DME Specific Peptides for COL16A1 Gene

Domains & Families for COL16A1 Gene

Gene Families for COL16A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL16A1 Gene

Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Thrombospondin, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COL16A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(XVI) chain (COGA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07092

UniProtKB/Swiss-Prot:

COGA1_HUMAN :
  • This sequence defines eighteen different domains, nine triple-helical domains (COL9 to COL1) and ten non-triple-helical domains (NC10 to NC1). The numerous interruptions in the triple helix may make this molecule either elastic or flexible.
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Domain:
  • This sequence defines eighteen different domains, nine triple-helical domains (COL9 to COL1) and ten non-triple-helical domains (NC10 to NC1). The numerous interruptions in the triple helix may make this molecule either elastic or flexible.
Family:
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
genes like me logo Genes that share domains with COL16A1: view

Function for COL16A1 Gene

Molecular function for COL16A1 Gene

UniProtKB/Swiss-Prot Function:
Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology.
GENATLAS Biochemistry:
collagen,type XVI,alpha 1,with features of fibril associated collagen with interrupted helices (?FACIT variant)

Phenotypes From GWAS Catalog for COL16A1 Gene

Gene Ontology (GO) - Molecular Function for COL16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IDA 16754661
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IPI 15165854
GO:0008201 heparin binding IBA 21873635
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
genes like me logo Genes that share ontologies with COL16A1: view
genes like me logo Genes that share phenotypes with COL16A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for COL16A1

miRNA for COL16A1 Gene

miRTarBase miRNAs that target COL16A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COL16A1 Gene

Localization for COL16A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL16A1 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 COL16A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
cytosol 3
mitochondrion 2
nucleus 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005597 collagen type XVI trimer TAS 1284248
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL16A1: view

Pathways & Interactions for COL16A1 Gene

PathCards logo

SuperPathways for COL16A1 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 Collagen chain trimerization
.48
.46
3 ERK Signaling
.61
.61
.58
.51
.49
4 Degradation of the extracellular matrix
5 Phospholipase-C Pathway
.56
.56
genes like me logo Genes that share pathways with COL16A1: view

Pathways by source for COL16A1 Gene

15 Qiagen pathways for COL16A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL16A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001763 morphogenesis of a branching structure IBA 21873635
GO:0007155 cell adhesion IDA,IEA 16754661
GO:0007160 cell-matrix adhesion IBA 21873635
GO:0007229 integrin-mediated signaling pathway TAS 16754661
GO:0007565 female pregnancy TAS 1284248
genes like me logo Genes that share ontologies with COL16A1: view

No data available for SIGNOR curated interactions for COL16A1 Gene

Drugs & Compounds for COL16A1 Gene

No Compound Related Data Available

Transcripts for COL16A1 Gene

mRNA/cDNA for COL16A1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL16A1 Gene

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

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33
SP1:
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for COL16A1 Gene

GeneLoc Exon Structure for
COL16A1

Expression for COL16A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL16A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL16A1 Gene

This gene is overexpressed in Kidney (12.5), Cerebrospinal fluid (9.0), and Bone marrow mesenchymal stem cell (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COL16A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL16A1

SOURCE GeneReport for Unigene cluster for COL16A1 Gene:

Hs.368921

mRNA Expression by UniProt/SwissProt for COL16A1 Gene:

Q07092-COGA1_HUMAN
Tissue specificity: In papillary dermis, is a component of specialized fibrillin-1-containing microfibrils, whereas in territorial cartilage matrix, it is localized to a discrete population of thin, weakly banded collagen fibrils in association with other collagens (at protein level). In the placenta, where it is found in the amnion, a membranous tissue lining the amniotic cavity. Within the amnion, it is found in an acellular, relatively dense layer of a complex network of reticular fibers. Also located to a fibroblast layer beneath this dense layer. Exists in tissues in association with other types of collagen.

Evidence on tissue expression from TISSUES for COL16A1 Gene

  • Spleen(4.2)
genes like me logo Genes that share expression patterns with COL16A1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL16A1 Gene

Orthologs for COL16A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL16A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL16A1 31 30
  • 98.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COL16A1 31 30
  • 89.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COL16A1 31 30
  • 87.93 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col16a1 30
  • 85.68 (n)
mouse
(Mus musculus)
Mammalia Col16a1 17 31 30
  • 85.6 (n)
oppossum
(Monodelphis domestica)
Mammalia COL16A1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL16A1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL16A1 31 30
  • 64.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL16A1 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497018 30
  • 59.62 (n)
zebrafish
(Danio rerio)
Actinopterygii col16a1 31
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42342 31
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea col-99 31
  • 34 (a)
OneToMany
Species where no ortholog for COL16A1 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 COL16A1 Gene

ENSEMBL:
Gene Tree for COL16A1 (if available)
TreeFam:
Gene Tree for COL16A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL16A1: view image

Paralogs for COL16A1 Gene

(6) SIMAP similar genes for COL16A1 Gene using alignment to 6 proteins:

  • COGA1_HUMAN
  • A6NCT7_HUMAN
  • A6NDR9_HUMAN
  • H7BY97_HUMAN
  • H7BZL8_HUMAN
  • H7C3F0_HUMAN
genes like me logo Genes that share paralogs with COL16A1: view

Variants for COL16A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL16A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
715549 Benign: not provided 31,679,814(-) G/T MISSENSE_VARIANT
771840 Likely Benign: not provided 31,692,475(-) T/C MISSENSE_VARIANT
775528 Benign: not provided 31,691,647(-) G/C INTRON_VARIANT
782078 Benign: not provided 31,694,180(-) C/T INTRON_VARIANT
rs2228552 - p.Thr62Lys

Additional dbSNP identifiers (rs#s) for COL16A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL16A1 Gene

Variant ID Type Subtype PubMed ID
esv2758930 CNV loss 17122850
nsv1000976 CNV loss 25217958
nsv461028 CNV loss 19166990
nsv470708 CNV loss 18288195
nsv472148 CNV novel sequence insertion 20440878
nsv528364 CNV loss 19592680
nsv545951 CNV gain 21841781
nsv545952 CNV gain 21841781
nsv545953 CNV loss 21841781
nsv818123 CNV loss 17921354
nsv950385 CNV deletion 24416366

Variation tolerance for COL16A1 Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.42; 90.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL16A1 Gene

Human Gene Mutation Database (HGMD)
COL16A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL16A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL16A1 Gene

Disorders for COL16A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COL16A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
potter's syndrome
  • potter sequence
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL16A1

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 COL16A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL16A1 Gene

Publications for COL16A1 Gene

  1. Cloning and chromosomal location of human alpha 1(XVI) collagen. (PMID: 1631157) Pan TC … Chu ML (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  4. Collagen XVI harbors an integrin alpha1 beta1 recognition site in its C-terminal domains. (PMID: 16754661) Eble JA … Grässel S (The Journal of biological chemistry 2006) 3 4 54
  5. Molecular structure and interaction of recombinant human type XVI collagen. (PMID: 15165854) Kassner A … Grässel S (Journal of molecular biology 2004) 3 4 54

Products for COL16A1 Gene

Sources for COL16A1 Gene