COL27A1 (collagen type XXVII alpha 1 chain)

2014-11-01  

Identity

HGNC
COL27A1
LOCATION
9q32
LOCUSID
85301
ALIAS
STLS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85301
MIM: 608461
HGNC: 22986
Ensembl: ENSG00000196739

Variants:

dbSNP: 85301
ClinVar: 85301
TCGA: ENSG00000196739
COSMIC: COL27A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196739ENST00000356083Q8IZC6
ENSG00000196739ENST00000451716Q5T1U7
ENSG00000196739ENST00000494090H0YD40

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
333591652021Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.2
333591652021Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.2
319036812020Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.3
323607652020First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.5
323769882020Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.15
319036812020Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.3
323607652020First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.5
323769882020Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.15
314821402019Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank.29
314821402019Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank.29
303594232018Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach.6
303594232018Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach.6
282760562017Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.9
283225032017A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.10
282760562017Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.9

Citation

Dessen P

COL27A1 (collagen type XXVII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61990