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Aliases for COL22A1 Gene

Aliases for COL22A1 Gene

  • Collagen, Type XXII, Alpha 1 2 3

External Ids for COL22A1 Gene

Summaries for COL22A1 Gene

Entrez Gene Summary for COL22A1 Gene

  • COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008]

GeneCards Summary for COL22A1 Gene

COL22A1 (Collagen, Type XXII, Alpha 1) is a Protein Coding gene. Among its related pathways are ERK Signaling and ERK Signaling. An important paralog of this gene is COL21A1.

UniProtKB/Swiss-Prot for COL22A1 Gene

  • Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL22A1 Gene

Genomics for COL22A1 Gene

Genomic Location for COL22A1 Gene

Start:
138,588,235 bp from pter
End:
138,914,006 bp from pter
Size:
325,772 bases
Orientation:
Minus strand

Genomic View for COL22A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL22A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL22A1 Gene

Regulatory Elements for COL22A1 Gene

Proteins for COL22A1 Gene

  • Protein details for COL22A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFW1-COMA1_HUMAN
    Recommended name:
    Collagen alpha-1(XXII) chain
    Protein Accession:
    Q8NFW1
    Secondary Accessions:
    • B7ZMH0
    • C9K0G4
    • Q8IVT9

    Protein attributes for COL22A1 Gene

    Size:
    1626 amino acids
    Molecular mass:
    161145 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COL22A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL22A1 Gene

Proteomics data for COL22A1 Gene at MOPED

Post-translational modifications for COL22A1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn375

Other Protein References for COL22A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL22A1 Gene

Domains for COL22A1 Gene

Gene Families for COL22A1 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL22A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFW1

UniProtKB/Swiss-Prot:

COMA1_HUMAN
Domain:
  • Contains 16 collagen-like domains.:
    • Q8NFW1
  • Contains 1 laminin G-like domain.:
    • Q8NFW1
  • Contains 1 VWFA domain.:
    • Q8NFW1
Family:
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.:
    • Q8NFW1
genes like me logo Genes that share domains with COL22A1: view

Function for COL22A1 Gene

Molecular function for COL22A1 Gene

UniProtKB/Swiss-Prot Function: Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for COL22A1 Gene

Localization for COL22A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL22A1 Gene

Secreted, extracellular space, extracellular matrix. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL22A1 Gene COMPARTMENTS Subcellular localization image for COL22A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COL22A1 Gene

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:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL22A1: view

Pathways for COL22A1 Gene

genes like me logo Genes that share pathways with COL22A1: view

Pathways by source for COL22A1 Gene

Interacting Proteins for COL22A1 Gene

Gene Ontology (GO) - Biological Process for COL22A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL22A1: view

Compounds for COL22A1 Gene

(1) PharmGKB related drug/compound annotations for COL22A1 Gene

Drug/compound Annotation
salbutamol CA
genes like me logo Genes that share compounds with COL22A1: view

Transcripts for COL22A1 Gene

Unigene Clusters for COL22A1 Gene

Collagen, type XXII, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL22A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: -
SP2:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
SP1:
SP2: - -

ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66
SP1:
SP2:

Relevant External Links for COL22A1 Gene

GeneLoc Exon Structure for
COL22A1
ECgene alternative splicing isoforms for
COL22A1

Expression for COL22A1 Gene

mRNA expression in normal human tissues for COL22A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL22A1 Gene

This gene is overexpressed in Pituitary (37.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL22A1 Gene

SOURCE GeneReport for Unigene cluster for COL22A1 Gene Hs.117169

mRNA Expression by UniProt/SwissProt for COL22A1 Gene

Q8NFW1-COMA1_HUMAN
Tissue specificity: Restrictive expression is observed at tissue junctions such as the myotendinous junction in skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair follicle and the dermis in the skin. It is deposited in the basement membrane zone of the myotendinous junction and the hair follicle and associated with the extrafibrillar matrix in cartilage.
genes like me logo Genes that share expressions with COL22A1: view

Orthologs for COL22A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL22A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL22A1 35
  • 98.99 (n)
  • 98.42 (a)
COL22A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL22A1 35
  • 87.42 (n)
  • 90.73 (a)
COL22A1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL22A1 35
  • 86.38 (n)
  • 89.15 (a)
COL22A1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col22a1 35
  • 84.63 (n)
  • 86.83 (a)
Col22a1 16
Col22a1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL22A1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL22A1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col22a1 35
  • 85.35 (n)
  • 87.91 (a)
chicken
(Gallus gallus)
Aves COL22A1 35
  • 70.27 (n)
  • 72.36 (a)
COL22A1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL22A1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col22a1 35
  • 64.75 (n)
  • 65.79 (a)
zebrafish
(Danio rerio)
Actinopterygii prp 35
  • 60.31 (n)
  • 60.52 (a)
prp 36
  • 58 (a)
OneToOne
Species with no ortholog for COL22A1:
  • 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COL22A1 Gene

ENSEMBL:
Gene Tree for COL22A1 (if available)
TreeFam:
Gene Tree for COL22A1 (if available)

Paralogs for COL22A1 Gene

Paralogs for COL22A1 Gene

Selected SIMAP similar genes for COL22A1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for COL22A1 Gene

genes like me logo Genes that share paralogs with COL22A1: view

Variants for COL22A1 Gene

Sequence variations from dbSNP and Humsavar for COL22A1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1054069 -- 138,778,001(-) AGAAG(A/G)GTGGA intron-variant
rs1316335 -- 138,911,362(+) CATAA(A/G)CTATG intron-variant
rs1316448 -- 138,912,093(-) TAACA(C/T)AAGAG intron-variant
rs1316494 -- 138,819,641(-) TATCT(A/C)TATAA intron-variant
rs1316523 -- 138,819,023(+) CCCAC(C/T)TCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL22A1 Gene

Variant ID Type Subtype PubMed ID
nsv891514 CNV Gain 21882294
esv7426 CNV Loss 19470904
esv2542263 CNV Deletion 19546169
esv2737692 CNV Deletion 23290073
esv2672597 CNV Deletion 23128226
esv8995 CNV Loss 19470904
esv2737693 CNV Deletion 23290073
nsv517244 CNV Gain+Loss 19592680
nsv521435 CNV Gain 19592680
esv2737694 CNV Deletion 23290073
esv2737697 CNV Deletion 23290073
esv2737698 CNV Deletion 23290073
esv2737699 CNV Deletion 23290073
esv2737700 CNV Deletion 23290073
nsv519838 CNV Loss 19592680
esv2737701 CNV Deletion 23290073
esv2189069 CNV Deletion 18987734
esv2737702 CNV Deletion 23290073
esv274883 CNV Loss 21479260
nsv824744 CNV Loss 20364138
esv2662952 CNV Deletion 23128226
nsv520099 CNV Loss 19592680
nsv526443 CNV Loss 19592680
esv22132 CNV Loss 19812545

Relevant External Links for COL22A1 Gene

HapMap Linkage Disequilibrium report
COL22A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL22A1 Gene

Disorders for COL22A1 Gene

Relevant External Links for COL22A1

Genetic Association Database (GAD)
COL22A1
Human Genome Epidemiology (HuGE) Navigator
COL22A1
genes like me logo Genes that share disorders with COL22A1: view

No data available for UniProtKB/Swiss-Prot for COL22A1 Gene

Publications for COL22A1 Gene

  1. A novel marker of tissue junctions, collagen XXII. (PMID: 15016833) Koch M. … Bruckner-Tuderman L. (J. Biol. Chem. 2004) 3 4 23
  2. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. (PMID: 20222955) Pattaro C. … Pramstaller P.P. (BMC Med. Genet. 2010) 3 23 48
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. A genome-wide association study of bronchodilator response in asthmatics. (PMID: 23508266) Duan Q.L. … Tantisira K.G. (Pharmacogenomics J. 2013) 3
  5. Collagen XXII binds to collagen-binding integrins via the novel motifs GLQGER and GFKGER. (PMID: 24428702) Zwolanek D. … Koch M. (Biochem. J. 2014) 3

Products for COL22A1 Gene

Sources for COL22A1 Gene

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