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Aliases for COL14A1 Gene

Aliases for COL14A1 Gene

  • Collagen Type XIV Alpha 1 Chain 2 3 5
  • Collagen, Type XIV, Alpha 1 2 3
  • Undulin 2 4
  • UND 3 4
  • Undulin (Fibronectin-Tenascin-Related) 3
  • Collagen Alpha-1(XIV) Chain 3

External Ids for COL14A1 Gene

Previous HGNC Symbols for COL14A1 Gene

  • UND

Previous GeneCards Identifiers for COL14A1 Gene

  • GC08P120129
  • GC08P121129
  • GC08P120740
  • GC08P121028
  • GC08P121093
  • GC08P121188
  • GC08P116458

Summaries for COL14A1 Gene

Entrez Gene Summary for COL14A1 Gene

  • This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]

GeneCards Summary for COL14A1 Gene

COL14A1 (Collagen Type XIV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL14A1 include Palmoplantar Keratoderma, Punctate Type Ia and Punctate Palmoplantar Keratoderma. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL12A1.

UniProtKB/Swiss-Prot for COL14A1 Gene

  • Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity).

Gene Wiki entry for COL14A1 Gene

Additional gene information for COL14A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL14A1 Gene

Genomics for COL14A1 Gene

GeneHancer (GH) Regulatory Elements for COL14A1 Gene

Promoters and enhancers for COL14A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I120123 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.2 +65.1 65100 3.6 ARID4B FEZF1 ZNF2 ZNF48 GLIS2 ZNF143 KLF13 DEK SP3 REST COL14A1 ENSG00000254343 PIR54850 MTBP
GH08I120060 Enhancer 0.8 Ensembl ENCODE 550.8 +0.9 920 0.8 SMARCA5 CTCF NFIB HLF MAX SIN3A MNT RAD21 YY1 NFIL3 COL14A1 LOC105375730 ENSG00000254343 DEPTOR PIR54850
GH08I119981 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -77.1 -77133 3.8 PKNOX1 CLOCK NFIB ZNF529 NEUROD1 SIN3A ZBTB7B ZNF366 FOS RCOR1 DEPTOR MTBP COL14A1 DSCC1 ENSG00000254343 ENSG00000245330 GC08M119936 GC08P120015
GH08I119968 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.4 -85.5 -85512 11.1 HDGF PKNOX1 FOXA2 USF1 FEZF1 ZIC2 RAD21 YY1 ZNF121 ZNF316 DEPTOR COL14A1 DSCC1 ENSG00000254343 ENSG00000245330 GC08M119936 GC08P120015
GH08I119990 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.9 -68.8 -68800 1.3 JUN INSM2 FEZF1 ZNF366 ZSCAN5C ZNF189 ZNF10 ZEB2 TSHZ1 ZNF843 DEPTOR COL14A1 ENSG00000245330 DSCC1 GC08P120015 GC08M119936
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COL14A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL14A1 gene promoter:

Genomic Locations for COL14A1 Gene

Genomic Locations for COL14A1 Gene
chr8:120,059,780-120,373,573
(GRCh38/hg38)
Size:
313,794 bases
Orientation:
Plus strand
chr8:121,072,019-121,384,275
(GRCh37/hg19)

Genomic View for COL14A1 Gene

Genes around COL14A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL14A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL14A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL14A1 Gene

Proteins for COL14A1 Gene

  • Protein details for COL14A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05707-COEA1_HUMAN
    Recommended name:
    Collagen alpha-1(XIV) chain
    Protein Accession:
    Q05707
    Secondary Accessions:
    • B2RU07
    • O00260
    • O00261
    • O00262
    • Q05708
    • Q5XJ18
    • Q96C67
    • Q9UDF6

    Protein attributes for COL14A1 Gene

    Size:
    1796 amino acids
    Molecular mass:
    193515 Da
    Quaternary structure:
    • Homotrimer.
    SequenceCaution:
    • Sequence=AAA36795.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305}; Sequence=AAH14640.1; Type=Frameshift; Positions=1047; Evidence={ECO:0000305};

    Alternative splice isoforms for COL14A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL14A1 Gene

Post-translational modifications for COL14A1 Gene

  • Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in all cases and bind carbohydrates.
  • May contain numerous cysteine residues involved in inter- and intramolecular disulfide bonding.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Asn94, Asn137, posLast=372372, posLast=643643, posLast=13841384, posLast=13881388, Lys1476, Lys1485, posLast=15231523, posLast=15261526, posLast=16011601, posLast=16981698, and posLast=17011701

No data available for DME Specific Peptides for COL14A1 Gene

Domains & Families for COL14A1 Gene

Gene Families for COL14A1 Gene

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

Suggested Antigen Peptide Sequences for COL14A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q05707

UniProtKB/Swiss-Prot:

COEA1_HUMAN :
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Family:
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
genes like me logo Genes that share domains with COL14A1: view

Function for COL14A1 Gene

Molecular function for COL14A1 Gene

GENATLAS Biochemistry:
collagen,type XIV,alpha 1,fibril-associated collagen with interrupted triple helices (FACIT) homotrimerizing,expressed in extracellular matrix,related to collagen type XIV,involved in supramolecular organization of fibril bundles
UniProtKB/Swiss-Prot Function:
Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity).

Phenotypes From GWAS Catalog for COL14A1 Gene

Gene Ontology (GO) - Molecular Function for COL14A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005201 extracellular matrix structural constituent NAS 2187872
GO:0005518 collagen binding NAS 2187872
GO:0030674 protein binding, bridging NAS 9427527
genes like me logo Genes that share ontologies with COL14A1: view
genes like me logo Genes that share phenotypes with COL14A1: view

Human Phenotype Ontology for COL14A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL14A1 Gene

MGI Knock Outs for COL14A1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL14A1 Gene

Localization for COL14A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL14A1 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 COL14A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COL14A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS --
GO:0005578 proteinaceous extracellular matrix NAS 2187872
GO:0005581 collagen trimer NAS 9427527
GO:0005596 collagen type XIV trimer NAS 9427527
GO:0005615 extracellular space IDA 20551380
genes like me logo Genes that share ontologies with COL14A1: view

Pathways & Interactions for COL14A1 Gene

genes like me logo Genes that share pathways with COL14A1: view

Gene Ontology (GO) - Biological Process for COL14A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0030198 extracellular matrix organization NAS 9427527
GO:0030199 collagen fibril organization NAS 2187872
GO:0098609 cell-cell adhesion NAS 9427527
genes like me logo Genes that share ontologies with COL14A1: view

No data available for SIGNOR curated interactions for COL14A1 Gene

Drugs & Compounds for COL14A1 Gene

(1) Drugs for COL14A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for COL14A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL14A1: view

Transcripts for COL14A1 Gene

Unigene Clusters for COL14A1 Gene

Collagen, type XIV, alpha 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL14A1 Gene

No ASD Table

Relevant External Links for COL14A1 Gene

GeneLoc Exon Structure for
COL14A1
ECgene alternative splicing isoforms for
COL14A1

Expression for COL14A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL14A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL14A1 Gene

This gene is overexpressed in Artery - Tibial (x10.6), Artery - Aorta (x9.7), and Artery - Coronary (x6.2).

Protein differential expression in normal tissues from HIPED for COL14A1 Gene

This gene is overexpressed in Prostate (10.1) and Urinary Bladder (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL14A1 Gene



Protein tissue co-expression partners for COL14A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL14A1 Gene:

COL14A1

SOURCE GeneReport for Unigene cluster for COL14A1 Gene:

Hs.409662

Evidence on tissue expression from TISSUES for COL14A1 Gene

  • Liver(4.7)
  • Heart(3.8)
  • Kidney(2.5)
  • Adrenal gland(2.2)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL14A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • urinary
Regions:
Thorax:
  • breast
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
Limb:
  • foot
  • hand
  • lower limb
  • nail
  • upper limb
General:
  • blood
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with COL14A1: view

No data available for mRNA Expression by UniProt/SwissProt for COL14A1 Gene

Orthologs for COL14A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL14A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL14A1 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia COL14A1 33 34
  • 89.9 (n)
cow
(Bos Taurus)
Mammalia COL14A1 33 34
  • 86.99 (n)
mouse
(Mus musculus)
Mammalia Col14a1 33 16 34
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Col14a1 33
  • 86 (n)
oppossum
(Monodelphis domestica)
Mammalia COL14A1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 49 (a)
ManyToMany
chicken
(Gallus gallus)
Aves COL14A1 33 34
  • 74.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 73 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii col14a1a 33 34
  • 62.87 (n)
wufb93g03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10198 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10963 34
  • 20 (a)
OneToMany
Species where no ortholog for COL14A1 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL14A1 Gene

ENSEMBL:
Gene Tree for COL14A1 (if available)
TreeFam:
Gene Tree for COL14A1 (if available)

Paralogs for COL14A1 Gene

Paralogs for COL14A1 Gene

(9) SIMAP similar genes for COL14A1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for COL14A1 Gene

genes like me logo Genes that share paralogs with COL14A1: view

Variants for COL14A1 Gene

Sequence variations from dbSNP and Humsavar for COL14A1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs397514597 uncertain-significance, Variant of unknown significance 120,313,981(+) C/T coding_sequence_variant, missense_variant
rs867730623 uncertain-significance, not specified 120,197,894(+) C/T coding_sequence_variant, stop_gained
rs1000000018 -- 120,258,031(+) G/A intron_variant
rs1000002064 -- 120,215,457(+) A/T intron_variant
rs1000010809 -- 120,301,666(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COL14A1 Gene

Variant ID Type Subtype PubMed ID
nsv6364 CNV deletion 18451855
nsv612112 CNV gain 21841781
nsv1117851 CNV deletion 24896259
nsv1115793 CNV duplication 24896259

Variation tolerance for COL14A1 Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.50; 77.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL14A1 Gene

Human Gene Mutation Database (HGMD)
COL14A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL14A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL14A1 Gene

Disorders for COL14A1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for COL14A1 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar keratoderma, punctate type ia
  • ppkp1a
punctate palmoplantar keratoderma
  • punctate keratosis palmoplantaris
collagenous colitis
  • microscopic colitis, collagenous type
peliosis hepatis
  • hepatic peliosis
supraglottis cancer
  • ca larynx - supraglottis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL14A1

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 COL14A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL14A1 Gene

Publications for COL14A1 Gene

  1. Complete primary structure of human collagen type XIV (undulin). (PMID: 9427527) Bauer M … Schuppan D (Biochimica et biophysica acta 1997) 2 3 4 22 58
  2. Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins. (PMID: 1716629) Just M … Schuppan D (The Journal of biological chemistry 1991) 2 3 4 22 58
  3. The COL12A1 and COL14A1 genes and Achilles tendon injuries. (PMID: 17960519) September AV … Collins M (International journal of sports medicine 2008) 3 22 44 58
  4. Undulin, an extracellular matrix glycoprotein associated with collagen fibrils. (PMID: 2187872) Schuppan D … Hahn EG (The Journal of biological chemistry 1990) 3 4 22 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for COL14A1 Gene

Sources for COL14A1 Gene

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