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2024-04-20 14:52:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001851 3805 bp mRNA linear PRI 09-MAY-2013
DEFINITION Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript
variant 1, mRNA.
ACCESSION NM_001851
VERSION NM_001851.4 GI:189181663
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3805)
AUTHORS Boudko,S.P. and Bachinger,H.P.
TITLE The NC2 domain of type IX collagen determines the chain register of
the triple helix
JOURNAL J. Biol. Chem. 287 (53), 44536-44545 (2012)
PUBMED 23132862
REMARK GeneRIF: The NC2 domain of type IX collagen determines the chain
composition but also the chain register of the triple helix.
REFERENCE 2 (bases 1 to 3805)
AUTHORS Parsons,P., Gilbert,S.J., Vaughan-Thomas,A., Sorrell,D.A.,
Notman,R., Bishop,M., Hayes,A.J., Mason,D.J. and Duance,V.C.
TITLE Type IX collagen interacts with fibronectin providing an important
molecular bridge in articular cartilage
JOURNAL J. Biol. Chem. 286 (40), 34986-34997 (2011)
PUBMED 21768108
REMARK GeneRIF: Type IX collagen interacts with fibronectin providing an
important molecular bridge in articular cartilage
REFERENCE 3 (bases 1 to 3805)
AUTHORS Liu,L.Y., Jin,C.L., Jiang,L. and Lin,C.K.
TITLE [Expression of COL9A1 gene and its polymorphism in children with
idiopathic congenital talipes equinovarus]
JOURNAL Zhongguo Dang Dai Er Ke Za Zhi 13 (6), 478-481 (2011)
PUBMED 21672422
REMARK GeneRIF: COL9A1 protein is highly expressed in patients with
idiopathic congenital talipes equinovarus (ICTEV) and rs1135056,
which is located in the coding region of COL9A1 gene, may be
associated with the pathogenesis of ICTEV.
REFERENCE 4 (bases 1 to 3805)
AUTHORS Nikopoulos,K., Schrauwen,I., Simon,M., Collin,R.W., Veckeneer,M.,
Keymolen,K., Van Camp,G., Cremers,F.P. and van den Born,L.I.
TITLE Autosomal recessive Stickler syndrome in two families is caused by
mutations in the COL9A1 gene
JOURNAL Invest. Ophthalmol. Vis. Sci. 52 (7), 4774-4779 (2011)
PUBMED 21421862
REMARK GeneRIF: A second, novel mutation was identified in COL9A1, causing
autosomal recessive Stickler syndrome together with the previously
described nucleotide change in two separate families.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 3805)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 6 (bases 1 to 3805)
AUTHORS Muragaki,Y., Kimura,T., Ninomiya,Y. and Olsen,B.R.
TITLE The complete primary structure of two distinct forms of human alpha
1 (IX) collagen chains
JOURNAL Eur. J. Biochem. 192 (3), 703-708 (1990)
PUBMED 2209617
REFERENCE 7 (bases 1 to 3805)
AUTHORS Muragaki,Y., Nishimura,I., Henney,A., Ninomiya,Y. and Olsen,B.R.
TITLE The alpha 1 (IX) collagen gene gives rise to two different
transcripts in both mouse embryonic and human fetal RNA
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (7), 2400-2404 (1990)
PUBMED 1690886
REFERENCE 8 (bases 1 to 3805)
AUTHORS Kimura,T., Mattei,M.G., Stevens,J.W., Goldring,M.B., Ninomiya,Y.
and Olsen,B.R.
TITLE Molecular cloning of rat and human type IX collagen cDNA and
localization of the alpha 1(IX) gene on the human chromosome 6
JOURNAL Eur. J. Biochem. 179 (1), 71-78 (1989)
PUBMED 2465149
REFERENCE 9 (bases 1 to 3805)
AUTHORS McCormick,D., van der Rest,M., Goodship,J., Lozano,G., Ninomiya,Y.
and Olsen,B.R.
TITLE Structure of the glycosaminoglycan domain in the type IX
collagen-proteoglycan
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 84 (12), 4044-4048 (1987)
PUBMED 3473493
REFERENCE 10 (bases 1 to 3805)
AUTHORS Richardson,G.P., Russell,I.J., Duance,V.C. and Bailey,A.J.
TITLE Polypeptide composition of the mammalian tectorial membrane
JOURNAL Hear. Res. 25 (1), 45-60 (1987)
PUBMED 3542919
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AU118474.1, BC015409.1,
BC063646.1, X54412.1, BF196880.1 and AW021120.1.
This sequence is a reference standard in the RefSeqGene project.
On May 30, 2008 this sequence version replaced gi:73486665.
Summary: This gene encodes one of the three alpha chains of type IX
collagen, which is a minor (5-20%) collagen component of hyaline
cartilage. Type IX collagen is usually found in tissues containing
type II collagen, a fibrillar collagen. Studies in knockout mice
have shown that synthesis of the alpha 1 chain is essential for
assembly of type IX collagen molecules, a heterotrimeric molecule,
and that lack of type IX collagen is associated with early onset
osteoarthritis. Mutations in this gene are associated with
osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a
form of chondrodysplasia, and with Stickler syndrome, a disease
characterized by ophthalmic, orofacial, articular, and auditory
defects. Two transcript variants that encode different isoforms
have been identified for this gene. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (1) encodes the longer isoform (1,
also known as the long form).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: X54412.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-13 AU118474.1 1-13
14-1134 BC015409.1 1-1121
1135-1886 BC063646.1 377-1128
1887-2627 X54412.1 1859-2599
2628-3166 BC063646.1 1870-2408
3167-3679 BF196880.1 27-539 c
3680-3805 AW021120.1 108-233
FEATURES Location/Qualifiers
source 1..3805
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6q13"
gene 1..3805
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/note="collagen, type IX, alpha 1"
/db_xref="GeneID:1297"
/db_xref="HGNC:2217"
/db_xref="MIM:120210"
exon 1..173
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
misc_feature 28
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/note="alternative transcription start site"
misc_feature 97..99
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/note="upstream in-frame stop codon"
CDS 160..2925
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/note="isoform 1 precursor is encoded by transcript
variant 1; cartilage-specific short collagen; collagen IX,
alpha-1 polypeptide; collagen alpha-1(IX) chain;
alpha-1(IX) collagen chain"
/codon_start=1
/product="collagen alpha-1(IX) chain isoform 1 precursor"
/protein_id="NP_001842.3"
/db_xref="GI:73486666"
/db_xref="CCDS:CCDS4971.1"
/db_xref="GeneID:1297"
/db_xref="HGNC:2217"
/db_xref="MIM:120210"
/translation="
MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLISQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMTGSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQWHKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLIHCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGPPGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIPGPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRSGYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDKGEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLPGVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQMGNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLPGMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSRGLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAASLKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEKGERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGFCEPASCTMQAGQRAFNKGPDP
"
sig_peptide 160..228
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 229..2922
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/product="collagen alpha-1(IX) chain isoform 1"
misc_feature 229..963
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20849.3);
Region: Nonhelical region (NC4)"
misc_feature 307..891
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/note="Thrombospondin N-terminal -like domains; Region:
TSPN; smart00210"
/db_xref="CDD:128506"
misc_feature 964..1374
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20849.3);
Region: Triple-helical region (COL3)"
misc_feature 1375..1410
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20849.3);
Region: Nonhelical region (NC3)"
misc_feature 1405..1575
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/note="Collagen triple helix repeat (20 copies); Region:
Collagen; pfam01391"
/db_xref="CDD:189968"
misc_feature 1411..2427
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20849.3);
Region: Triple-helical region (COL2)"
misc_feature 1609..1782
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/note="Collagen triple helix repeat (20 copies); Region:
Collagen; pfam01391"
/db_xref="CDD:189968"
misc_feature 2428..2517
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20849.3);
Region: Nonhelical region (NC2)"
misc_feature 2518..2862
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20849.3);
Region: Triple-helical region (COL1)"
misc_feature 2863..2922
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P20849.3);
Region: Nonhelical region (NC1)"
exon 174..247
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 248..325
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 326..458
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 459..855
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 856..939
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 940..960
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 961..1035
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1036..1071
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1072..1134
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1135..1188
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1189..1224
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1225..1248
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 1230
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:607156"
exon 1249..1302
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1303..1356
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 1341
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="c"
/replace="t"
/db_xref="dbSNP:1135052"
exon 1357..1389
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1390..1446
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1447..1500
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1501..1554
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1555..1608
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 1585
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="t"
/db_xref="dbSNP:1135054"
exon 1609..1662
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1663..1716
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1717..1770
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1771..1824
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1825..1878
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 1869
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="g"
/replace="t"
/db_xref="dbSNP:1135055"
exon 1879..1923
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1924..1977
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 1978..2031
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 2021
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135056"
exon 2032..2085
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 2086..2157
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 2158..2193
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 2194..2238
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 2209
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="g"
/db_xref="dbSNP:35470562"
exon 2239..2271
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 2272..2418
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
exon 2419..2473
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 2430
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="g"
/db_xref="dbSNP:2072650"
exon 2474..2662
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
STS 2501..2660
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/standard_name="STS-X54412"
/db_xref="UniSTS:76405"
variation 2629
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="c"
/db_xref="dbSNP:34119578"
exon 2663..2740
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 2721
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="t"
/db_xref="dbSNP:1135057"
exon 2741..3782
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/inference="alignment:Splign:1.39.8"
variation 2766
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="c"
/replace="g"
/db_xref="dbSNP:1056920"
variation 2768
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="g"
/db_xref="dbSNP:1056921"
variation 2803
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1056923"
variation 3154
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="c"
/replace="t"
/db_xref="dbSNP:2459555"
variation 3167..3168
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace=""
/replace="a"
/db_xref="dbSNP:3215859"
variation 3191
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/replace="c"
/replace="t"
/db_xref="dbSNP:1064250"
polyA_signal 3268..3273
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
polyA_site 3299
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
STS 3491..3662
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
/standard_name="RH46227"
/db_xref="UniSTS:30088"
polyA_signal 3678..3683
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
polyA_site 3696
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
polyA_signal 3764..3769
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
polyA_site 3782
/gene="COL9A1"
/gene_synonym="DJ149L1.1.2; EDM6; MED; STL4"
ORIGIN
cctttgcttttagccctcaccgggggcaggagggaccaaggctgggcccagaacacatagtcctagggtaacagtgaaggggtcgtgaggggacagtgactcccttccaaccccttcttcatagggactgttggcaaacaaagaaaatcaactgggaaaatgaagacctgctggaaaattccagttttcttctttgtgtgcagtttcctggaaccctgggcatctgcagctgtcaagcgtcgccccagattccctgtcaattccaattctaatggtggaaatgaactctgtccaaagatcaggattggccaagatgacttaccagggtttgatctgatctctcagttccaggtagataaagcagcatctagaagagctatccagagagtagtgggatcagctacattgcaggtggcttacaagttgggaaataatgtagacttcaggattccaactaggaatttatatcccagtggactgcctgaagaatactccttcttgacgacgtttcgaatgactggaagcactctcaaaaagaactggaacatttggcagattcaggattcctctgggaaggagcaagttggcataaagattaatggccaaacacaatctgttgtattttcatacaagggactggatggaagtctccaaacagcagccttttcgaatttgtcctccttgtttgattcccagtggcataagatcatgattggcgtggagaggagtagtgctactctttttgttgactgcaacaggattgaatctttacctataaagccaagaggcccaattgacattgatggctttgctgtgctgggaaaacttgcagataatcctcaagtttctgttccatttgaacttcaatggatgctgatccattgtgaccccctgcggcccaggagagaaacttgccatgagctgccagccagaataacgcccagccagaccaccgacgagagaggtcccccgggtgagcagggtcctcccgggcctccgggcccccctggagttccaggcatcgatggcatcgacggtgaccgaggtcctaagggccccccgggccccccgggtcctgcaggtgaaccgggaaagccaggagctccaggcaagcctggcacacctggcgctgatggattaacaggacctgatggatcccctggctccattgggtcaaagggacaaaaaggagaacctggtgtgcctggatcgcgtggatttccaggccgtggtattcctggaccccctggtcctcctgggacagcaggactccctggagagcttggccgtgtaggacctgttggtgaccctgggagaagaggaccacctggcccccctggccccccaggacccagaggaacaattggctttcatgatggagatccattgtgtcccaatgcctgtccaccaggtcgctcaggatatccaggcctaccaggcatgaggggtcataaaggggctaaaggagaaattggtgaaccaggaagacaaggacacaagggtgaagaaggtgaccagggagaactcggagaagttggagctcaaggacctccaggagcccagggtttgcgaggcatcaccggcatagttggggacaaaggggaaaaaggtgctcggggcttagatggtgaacctgggcctcagggtcttcctggtgcacctggtgatcaaggacagcgaggacctccaggagaagcaggtcccaaaggagatagaggggctgaaggtgctagaggaattcctggtctccctgggcccaaaggagacacgggtttgccaggtgtggatggccgtgatgggatccctggaatgcctggaacaaagggtgaaccaggaaaacctgggcctcctggtgatgcaggattgcaggggttaccaggtgtacctggaattcctggtgcaaagggtgttgctggtgaaaagggtagcacaggtgctccagggaagcctggtcagatgggaaattcaggcaaaccgggccaacaggggcctccaggagaggtgggaccccgaggaccccaggggcttcctggcagtagaggagaattaggaccagtgggatccccaggcctaccaggtaaactgggttctctgggtagccctggcctccctggcttgcctgggccccctggacttcctggaatgaaaggtgacaggggtgtagtcggtgaaccgggtccaaagggtgaacagggtgcctctggtgaagaaggtgaagcaggagaaaggggggaacttggagatataggattacctggcccaaagggatctgcaggtaatcctggggaacctggcttgagagggcctgagggaagtcgggggcttcctggagtggaaggaccaagaggaccacctggaccccggggtgtgcagggagaacagggtgccaccggcctgcctggtgtccagggccctccgggtagagcaccgacagatcagcacattaagcaggtttgcatgagagtcatacaagaacattttgctgagatggctgccagtcttaagcgtccagactcaggtgccactgggcttcctggaaggcctggccctcctggtccccccggccctcctggagagaatggtttcccaggccagatgggaattcgtggccttccgggcattaaggggccccctggtgctcttggtttgaggggacctaaaggtgacttgggagaaaagggggagcgtggccctccaggaagaggtcccaacggtttgcctggagctataggtctcccaggtgacccaggccctgccagctatggcagaaatggccgagacggtgagcgaggccccccaggggtggcaggaattcctggagtgcctggacccccgggacctcctgggcttcccggtttctgtgagccagcctcctgcaccatgcaggctggtcagcgagcatttaacaaagggcctgacccttgaaaggcttactgctgcatggctgtctgcatgaaccacgcctggtgaaggagcctgggtgagaaacaccatccaaagctggggcaaagatgattaccttcagcatgattacaatgtattaccttcagtatgattacagaagtcctacttgacaatcacatatagaagaacggtgctattcagtaagttctctttcctttcccttggagggaagacagcagagtcatcagttaaaaaaaaaaaaagaaaaccaaacacctcccttgaataaatttatactcctgttcccaggatcttgagctttagtgtgctatacctatgtgtcttatcgtgggccactgtgccaataaacaaaaacaactgtttggtttacctcagttgcagtagttattttcatttagaagttgttctcagattattgtttcagttatatagaggattactagactagttatgaagaaaccccactacattcaatggaattggtgcttaaaatctcatcgatgtgctgtctctggagtgataagaaagggctacatctcccgaaatgatttctttacgtcatgtattggtttccttcttcaccttgaacttttgttgaactgtatgtactttaccccaaacctgttaatattttgagcgcttctatgtgaaagcaaagaaataattttaatactctggcattcataaattttattgatgagattatttattttaaaggtttgaggtaacatctctggttgtaccaaagaagaaataaatatggtttcttaatctcttgcatgttttcttataaataatcatgttcaatgaaaagaagttactgagcttatttagatacattaaacattacttaactaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1297 -> Molecular function: GO:0030020 [extracellular matrix structural constituent conferring tensile strength] evidence: IC
GeneID:1297 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:1297 -> Biological process: GO:0001894 [tissue homeostasis] evidence: IEA
GeneID:1297 -> Biological process: GO:0003417 [growth plate cartilage development] evidence: IEA
GeneID:1297 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:1297 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS
GeneID:1297 -> Biological process: GO:0022617 [extracellular matrix disassembly] evidence: TAS
GeneID:1297 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:1297 -> Biological process: GO:0030574 [collagen catabolic process] evidence: TAS
GeneID:1297 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:1297 -> Cellular component: GO:0005594 [collagen type IX] evidence: IDA
GeneID:1297 -> Cellular component: GO:0005594 [collagen type IX] evidence: TAS
GeneID:1297 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS
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DBCLS
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