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Q14050 Proteins with novel repeats

Uniprot ID:Q14050	Gene name: COL9A3	Protein Family:Fibril-associated collagens with interrupted helices (FACIT) family
Protein name: Collagen alpha-3	Length : 684

Sequnce	>Q14050 685 MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQGLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGICDTSACQGAVLGGVGEKSGSRSS
Repeated Sequence regions	Length: 15 residues : 4 times from 453 to 506 :0.6764705882352942 region Length:54 KGELGPSGL--VG-P--- KGESGSRGE--LG-P--- KGTQGPNGTSGVQ-G--V PGPPGPLGL--QGVP-GV
Function	Structural component of hyaline cartilage and vitreous of the eye
Motifs	MOTIF 423 425 Cell attachment site. MOTIF 601 603 Cell attachment site
Disease	"DISEASE: Multiple epiphyseal dysplasia 3 (EDM3) [MIM:600969]: 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: Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine It results in low-back pain and unilateral leg pain Note=Disease susceptibility is associated with variations affecting the gene represented in this entry Susceptibility to intervertebral disk disease is conferred by variant p Arg103Trp (PubMed:11308397)"