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Aliases for COL27A1 Gene

Aliases for COL27A1 Gene

  • Collagen, Type XXVII, Alpha 1 2 3
  • KIAA1870 4 6
  • Collagen Alpha-1(XXVII) Chain 3
  • STLS 3

External Ids for COL27A1 Gene

Previous GeneCards Identifiers for COL27A1 Gene

  • GC09P110371
  • GC09P112294
  • GC09P112293
  • GC09P113997
  • GC09P115957
  • GC09P116917
  • GC09P086524

Summaries for COL27A1 Gene

Entrez Gene Summary for COL27A1 Gene

  • This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

GeneCards Summary for COL27A1 Gene

COL27A1 (Collagen, Type XXVII, Alpha 1) is a Protein Coding gene. Diseases associated with COL27A1 include steel syndrome. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL27A1 Gene

  • Plays a role during the calcification of cartilage and the transition of cartilage to bone.

Gene Wiki entry for COL27A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL27A1 Gene

Genomics for COL27A1 Gene

Regulatory Elements for COL27A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COL27A1 Gene

114,155,488 bp from pter
114,312,511 bp from pter
157,024 bases
Plus strand

Genomic View for COL27A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL27A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL27A1 Gene

Proteins for COL27A1 Gene

  • Protein details for COL27A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-1(XXVII) chain
    Protein Accession:
    Secondary Accessions:
    • Q66K43
    • Q96JF7

    Protein attributes for COL27A1 Gene

    1860 amino acids
    Molecular mass:
    186892 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB47499.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for COL27A1 Gene


neXtProt entry for COL27A1 Gene

Proteomics data for COL27A1 Gene at MOPED

Post-translational modifications for COL27A1 Gene

  • Glycosylation at Asn271 and Asn1769
  • Modification sites at PhosphoSitePlus

Other Protein References for COL27A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL27A1 Gene

Domains for COL27A1 Gene

Gene Families for COL27A1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Q8IZC6
  • 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).
  • Contains 16 collagen-like domains.
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 laminin G-like domain.
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL27A1: view

Function for COL27A1 Gene

Molecular function for COL27A1 Gene

UniProtKB/Swiss-Prot Function: Plays a role during the calcification of cartilage and the transition of cartilage to bone.

Gene Ontology (GO) - Molecular Function for COL27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL27A1: view
genes like me logo Genes that share phenotypes with COL27A1: view

Animal Model Products

CRISPR Products

miRNA for COL27A1 Gene

miRTarBase miRNAs that target COL27A1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for COL27A1 Gene

Localization for COL27A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL27A1 Gene

Secreted, extracellular space, extracellular matrix. Note=Found on some small banded collagen fibrils and meshworks. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for COL27A1 Gene COMPARTMENTS Subcellular localization image for COL27A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005583 fibrillar collagen trimer IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL27A1: view

Pathways for COL27A1 Gene

genes like me logo Genes that share pathways with COL27A1: view

Interacting Proteins for COL27A1 Gene

Gene Ontology (GO) - Biological Process for COL27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003431 growth plate cartilage chondrocyte development IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL27A1: view

Transcripts for COL27A1 Gene

Unigene Clusters for COL27A1 Gene

Collagen, type XXVII, alpha 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL27A1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for COL27A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL27A1 Gene

No ASD Table

Relevant External Links for COL27A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL27A1 Gene

mRNA expression in normal human tissues for COL27A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL27A1 Gene

This gene is overexpressed in Brain - Cerebellum (5.8), Brain - Cerebellar Hemisphere (5.4), and Cervix - Ectocervix (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL27A1 Gene

SOURCE GeneReport for Unigene cluster for COL27A1 Gene Hs.494892

genes like me logo Genes that share expressions with COL27A1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for COL27A1 Gene

Orthologs for COL27A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL27A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COL27A1 35
  • 96.64 (n)
  • 96.24 (a)
COL27A1 36
  • 95 (a)
(Bos Taurus)
Mammalia COL27A1 35
  • 88.3 (n)
  • 87.7 (a)
COL27A1 36
  • 72 (a)
(Canis familiaris)
Mammalia COL27A1 35
  • 87.19 (n)
  • 86.93 (a)
COL27A1 36
  • 77 (a)
(Mus musculus)
Mammalia Col27a1 35
  • 82.3 (n)
  • 81.71 (a)
Col27a1 16
Col27a1 36
  • 81 (a)
(Monodelphis domestica)
Mammalia COL27A1 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 34 (a)
(Rattus norvegicus)
Mammalia Col27a1 35
  • 81.91 (n)
  • 81 (a)
(Gallus gallus)
Aves COL27A1 35
  • 68.96 (n)
  • 71.86 (a)
(Anolis carolinensis)
Reptilia COL27A1 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490770 35
  • 63.16 (n)
  • 66.62 (a)
(Danio rerio)
Actinopterygii col27a1a 36
  • 55 (a)
col27a1b 36
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
Species with no ortholog for COL27A1:
  • 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 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 COL27A1 Gene

Gene Tree for COL27A1 (if available)
Gene Tree for COL27A1 (if available)

Paralogs for COL27A1 Gene

Selected SIMAP similar genes for COL27A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with COL27A1: view

Variants for COL27A1 Gene

Sequence variations from dbSNP and Humsavar for COL27A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs720310 -- 114,306,173(-) AAGGG(A/G)AGGTG intron-variant
rs728249 -- 114,214,355(-) ATGAC(A/G)CCAGC intron-variant
rs730011 -- 114,261,679(-) GATCC(C/T)GCCAG intron-variant
rs730619 -- 114,161,901(-) GCCAG(C/T)CACAA intron-variant
rs730989 -- 114,287,138(+) CCAGC(C/T)TTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL27A1 Gene

Variant ID Type Subtype PubMed ID
nsv893750 CNV Loss 21882294
dgv33e196 CNV Duplication 17116639
nsv893752 CNV Gain 21882294
dgv946n27 CNV Loss 19166990
dgv947n27 CNV Loss 19166990
esv259420 OTHER Complex 20981092
dgv948n27 CNV Gain 19166990
nsv6677 CNV Insertion 18451855
nsv466536 CNV Loss 19166990
nsv893753 CNV Loss 21882294
nsv893754 CNV Loss 21882294
nsv893755 CNV Loss 21882294
nsv893756 CNV Loss 21882294
nsv893757 CNV Gain 21882294
dgv949n27 CNV Gain 19166990
nsv471320 CNV Gain 18288195
nsv528823 CNV Gain 19592680
nsv466547 CNV Gain 19166990
nsv893758 CNV Loss 21882294
nsv509319 CNV Insertion 20534489
nsv893759 CNV Loss 21882294
nsv522296 CNV Loss 19592680

Relevant External Links for COL27A1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL27A1 Gene

Disorders for COL27A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for COL27A1 Gene including...

Search for COL27A1 Gene in MalaCards »


  • Steel syndrome (STLS) [MIM:615155]: A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge. {ECO:0000269 PubMed:24986830}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL27A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with COL27A1: view

Publications for COL27A1 Gene

  1. The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. (PMID: 15922909) Jenkins E. … Bridgewater L.C. (Matrix Biol. 2005) 3 23
  2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 3 4
  3. Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. (PMID: 12714037) Pace J.M. … Byers P.H. (Matrix Biol. 2003) 3 4
  4. A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. (PMID: 12766169) Boot-Handford R.P. … Poulsom R. (J. Biol. Chem. 2003) 2 3
  5. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 48

Products for COL27A1 Gene

Sources for COL27A1 Gene

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