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P20849 Proteins Collagen-like domain Repeats
Uniprot ID:P20849
Protein name: Collagen alpha-1
Gene : COL9A1
Protein Family:Fibril-associated collagens with interrupted helices (FACIT) family
Squence Length : 921
Sequnce
>P20849 922 MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLISQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMTGSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQWHKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLIHCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGPPGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIPGPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRSGYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDKGEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLPGVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQMGNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLPGMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSRGLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAASLKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEKGERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGFCEPASCTMQAGQRAFNKGPDP
Domains
DOMAIN 50 244 Laminin G-like DOMAIN 269 324 Collagen-like 1 DOMAIN 325 356 Collagen-like 2 DOMAIN 358 403 Collagen-like 3 DOMAIN 416 472 Collagen-like 4 DOMAIN 473 516 Collagen-like 5 DOMAIN 587 643 Collagen-like 6 DOMAIN 655 712 Collagen-like 7 DOMAIN 713 755 Collagen-like 8 DOMAIN 790 847 Collagen-like 9 DOMAIN 848 899 Collagen-like 10
Collagen-like sequence regions
269 - 324 PGEQGPPGPPGPPGVPGIDGIDGDRGPKGPPGPPGPAGEPGKPGAPGKPGTPGADG 325 - 356 LTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRG 358 - 403 PGPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFH 416 - 472 GRSGYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGIT 473 - 516 GIVGDKGEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGD 587 - 643 GSTGAPGKPGQMGNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSL 655 - 712 PGLPGMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLR 713 - 755 GPEGSRGLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAP 790 - 847 PGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEKGERGPPGRG 848 - 899 PNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGFC
Function
Structural component of hyaline cartilage and vitreous of the eye
Disease
"DISEASE: Multiple epiphyseal dysplasia 6 (EDM6) [MIM:614135]: A generalized skeletal dysplasia associated with significant morbidity Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Stickler syndrome 4 (STL4) [MIM:614134]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia) Bones are affected by slight platyspondylisis and large, often defective epiphyses Juvenile joint laxity is followed by early signs of arthrosis The degree of hearing loss varies among affected individuals and may become more severe over time Syndrome expressivity is variable Note=The disease is caused by mutations affecting the gene represented in this entry"