2024-03-29 10:59:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_080645 8087 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant short, mRNA. ACCESSION NM_080645 VERSION NM_080645.2 GI:93141048 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 8087) AUTHORS Massoudi,D., Malecaze,F., Soler,V., Butterworth,J., Erraud,A., Fournie,P., Koch,M. and Galiacy,S.D. TITLE NC1 long and NC3 short splice variants of type XII collagen are overexpressed during corneal scarring JOURNAL Invest. Ophthalmol. Vis. Sci. 53 (11), 7246-7256 (2012) PUBMED 22969073 REMARK GeneRIF: Type XII collagen is overexpressed in permanent human and mouse corneal scars and could represent a new target to treat corneal scarring. Publication Status: Online-Only REFERENCE 2 (bases 1 to 8087) AUTHORS Agarwal,P., Zwolanek,D., Keene,D.R., Schulz,J.N., Blumbach,K., Heinegard,D., Zaucke,F., Paulsson,M., Krieg,T., Koch,M. and Eckes,B. TITLE Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure JOURNAL J. Biol. Chem. 287 (27), 22549-22559 (2012) PUBMED 22573329 REMARK GeneRIF: In addition to binding collagen I, COMP binds to collagens XII and XIV via their C-terminal collagenous domains. REFERENCE 3 (bases 1 to 8087) AUTHORS Posthumus,M., September,A.V., O'Cuinneagain,D., van der Merwe,W., Schwellnus,M.P. and Collins,M. TITLE The association between the COL12A1 gene and anterior cruciate ligament ruptures JOURNAL Br J Sports Med 44 (16), 1160-1165 (2010) PUBMED 19443461 REMARK GeneRIF: COL12A1 is associated with anterior cruciate ligament ruptures among females REFERENCE 4 (bases 1 to 8087) AUTHORS Liu,C.Y., Wu,M.C., Chen,F., Ter-Minassian,M., Asomaning,K., Zhai,R., Wang,Z., Su,L., Heist,R.S., Kulke,M.H., Lin,X., Liu,G. and Christiani,D.C. TITLE A Large-scale genetic association study of esophageal adenocarcinoma risk JOURNAL Carcinogenesis 31 (7), 1259-1263 (2010) PUBMED 20453000 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 8087) AUTHORS Yasuda,T., Nishio,J., Sumegi,J., Kapels,K.M., Althof,P.A., Sawyer,J.R., Reith,J.D. and Bridge,J.A. TITLE Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma JOURNAL Mod. Pathol. 22 (11), 1499-1506 (2009) PUBMED 19648885 REMARK GeneRIF: this study identifies COL12A1 as the likely gene candidate within the recurrent 6q13 breakpoint and provides an alternative approach for detecting 6q13 anomalies in nondividing cells of chondromyxoid fibroma. REFERENCE 6 (bases 1 to 8087) AUTHORS Berthod,F., Germain,L., Guignard,R., Lethias,C., Garrone,R., Damour,O., van der Rest,M. and Auger,F.A. TITLE Differential expression of collagens XII and XIV in human skin and in reconstructed skin JOURNAL J. Invest. Dermatol. 108 (5), 737-742 (1997) PUBMED 9129225 REFERENCE 7 (bases 1 to 8087) AUTHORS Gerecke,D.R., Olson,P.F., Koch,M., Knoll,J.H., Taylor,R., Hudson,D.L., Champliaud,M.F., Olsen,B.R. and Burgeson,R.E. TITLE Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13 JOURNAL Genomics 41 (2), 236-242 (1997) PUBMED 9143499 REFERENCE 8 (bases 1 to 8087) AUTHORS Walchli,C., Koch,M., Chiquet,M., Odermatt,B.F. and Trueb,B. TITLE Tissue-specific expression of the fibril-associated collagens XII and XIV JOURNAL J. Cell. Sci. 107 (PT 2), 669-681 (1994) PUBMED 8207089 REFERENCE 9 (bases 1 to 8087) AUTHORS Oh,S.P., Taylor,R.W., Gerecke,D.R., Rochelle,J.M., Seldin,M.F. and Olsen,B.R. TITLE The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6 JOURNAL Genomics 14 (2), 225-231 (1992) PUBMED 1427837 REFERENCE 10 (bases 1 to 8087) AUTHORS Sugrue,S.P., Gordon,M.K., Seyer,J., Dublet,B., van der Rest,M. and Olsen,B.R. TITLE Immunoidentification of type XII collagen in embryonic tissues JOURNAL J. Cell Biol. 109 (2), 939-945 (1989) PUBMED 2668306 REMARK Erratum:[J Cell Biol 1989 Nov;109(5):following 2254] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA661773.1, U73778.1, AL096771.11 and AI752603.1. On Apr 21, 2006 this sequence version replaced gi:18201920. Summary: This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (short) lacks multiple exons in the 5' coding region compared to the long variant. The encoded isoform (short) is shorter but has identical N-and C-termini compared to the long isoform. 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 :: BC146868.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-239 DA661773.1 145-383 240-737 U73778.1 3679-4176 738-821 AL096771.11 20174-20257 822-1742 U73778.1 4261-5181 1743-2137 AI752603.1 11-405 2138-2198 AL096771.11 36612-36672 2199-2338 AL096771.11 37401-37540 2339-2468 AL096771.11 37976-38105 2469-2611 AL096771.11 39316-39458 2612-3402 U73778.1 6051-6841 3403-3545 AL096771.11 47308-47450 3546-5215 U73778.1 6985-8654 5216-5247 AL096771.11 74110-74141 5248-5676 U73778.1 8687-9115 5677-5684 AL096771.11 82285-82292 5685-5855 AL096771.11 83651-83821 5856-8087 AL096771.11 84841-87072 FEATURES Location/Qualifiers source 1..8087 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6q12-q13" gene 1..8087 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="collagen, type XII, alpha 1" /db_xref="GeneID:1303" /db_xref="HGNC:2188" /db_xref="MIM:120320" exon 1..131 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 132..239 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" misc_feature 149..151 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="upstream in-frame stop codon" CDS 167..5866 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="short isoform precursor is encoded by transcript variant short; collagen type XII proteoglycan; collagen alpha-1(XII) chain" /codon_start=1 /product="collagen alpha-1(XII) chain short isoform precursor" /protein_id="NP_542376.2" /db_xref="GI:93141049" /db_xref="CCDS:CCDS43481.1" /db_xref="GeneID:1303" /db_xref="HGNC:2188" /db_xref="MIM:120320" /translation="
MRSRLPPALAALGAALLLSSIEAEGMECLTRAEADIVLLVDGSWSIGRANFRTVRSFISRIVEVFDIGPKRVQIALAQYSGDPRTEWQLNAHRDKKSLLQAVANLPYKGGNTLTGMALNFIRQQNFRTQAGMRPRARKIGVLITDGKSQDDVEAPSKKLKDEGVELFAIGIKNADEVELKMIATDPDDTHAYNVADFESLSRIVDDLTINLCNSVKGPGDLEAPSNLVISERTHRSFRVSWTPPSDSVDRYKVEYYPVSGGKRQEFYVSRMETSTVLKDLKPETEYVVNVYSVVEDEYSEPLKGTEKTLPVPVVSLNIYDVGPTTMHVQWQPVGGATGYILSYKPVKDTEPTRPKEVRLGPTVNDMQLTDLVPNTEYAVTVQAVLHDLTSEPVTVREVTLPLPRPQDLKLRDVTHSTMNVFWEPVPGKVRKYIVRYKTPEEDVKEVEVDRSETSTSLKDLFSQTLYTVSVSAVHDEGESPPVTAQETTRPVPAPTNLKITEVTSEGFRGTWDHGASDVSLYRITWAPFGSSDKMETILNGDENTLVFENLNPNTIYEVSITAIYPDESESDDLIGSERTLPILTTQAPKSGPRNLQVYNATSNSLTVKWDPASGRVQKYRITYQPSTGEGNEQTTTIGGRQNSVVLQKLKPDTPYTITVSSLYPDGEGGRMTGRGKTKPLNTVRNLRVYDPSTSTLNVRWDHAEGNPRQYKLFYAPAAGGPEELVPIPGNTNYAILRNLQPDTSYTVTVVPVYTEGDGGRTSDTGRTLMRGLARNVQVYNPTPNSLDVRWDPAPGPVLQYRVVYSPVDGTRPSESIVVPGNTRMVHLERLIPDTLYSVNLVALYSDGEGNPSPAQGRTLPRSGPRNLRVFGETTNSLSVAWDHADGPVQQYRIIYSPTVGDPIDEYTTVPGRRNNVILQPLQPDTPYKITVIAVYEDGDGGHLTGNGRTVGLLPPQNIHISDEWYTRFRVSWDPSPSPVLGYKIVYKPVGSNEPMEAFVGEMTSYTLHNLNPSTTYDVNVYAQYDSGLSVPLTDQGTTLYLNVTDLKTYQIGWDTFCVKWSPHRAATSYRLKLSPADGTRGQEITVRGSETSHCFTGLSPDTDYGVTVFVQTPNLEGPGVSVKEHTTVKPTEAPTEPPTPPPPPTIPPARDVCKGAKADIVFLTDASWSIGDDNFNKVVKFIFNTVGGFDEISPAGIQVSFVQYSDEVKSEFKLNTYNDKALALGALQNIRYRGGNTRTGKALTFIKEKVLTWESGMRKNVPKVLVVVTDGRSQDEVKKAALVIQQSGFSVFVVGVADVDYNELANIASKPSERHVFIVDDFESFEKIEDNLITFVCETATSSCPLIYLDGYTSPGFKMLEAYNLTEKNFASVQGVSLESGSFPSYSAYRIQKNAFVNQPTADLHPNGLPPSYTIILLFRLLPETPSDPFAIWQITDRDYKPQVGVIADPSSKTLSFFNKDTRGEVQTVTFDTEEVKTLFYGSFHKVHIVVTSKSVKIYIDCYEIIEKDIKEAGNITTDGYEILGKLLKGERKSAAFQIQSFDIVCSPVWTSRDRCCDIPSRRDEGKCPAFPNSCTCTQDSVGPPGPPGPAGGPGAKGPRGERGISGAIGPPGPRGDIGPPGPQGPPGPQGPNGLSIPGEQGRQGMKGDAGEPGLPGRTGTPGLPGPPGPMGPPGDRGFTGKDGAMGPRGPPGPPGSPGSPGVTGPSGKPGKPGDHGRPGPSGLKGEKGDRGDIASQNMMRAVARQVCEQLISGQMNRFNQMLNQIPNDYQSSRNQPGPPGPPGPPGSAGARGEPGPGGRPGFPGTPGMQGPPGERGLPGEKGERGTGSSGPRGLPGPPGPQGESRTGPPGSTGSRGPPGPPGRPGNSGIRGPPGPPGYCDSSQCASIPYNGQGYPGSG
" sig_peptide 167..235 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 236..5863 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /product="collagen alpha-1(XII) chain short isoform" misc_feature 266..757 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different...; Region: vWA_collagen_alphaI-XII-like; cd01482" /db_xref="CDD:29255" misc_feature order(287..289,293..295,299..301,500..502,599..601) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="metal ion-dependent adhesion site (MIDAS); other site" /db_xref="CDD:29255" misc_feature order(293..301,305..307,500..502) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="integrin-collagen binding site; other site" /db_xref="CDD:29255" misc_feature 830..1084 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(1010..1012,1055..1057) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature order(1058..1063,1067..1072) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 1094..1363 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(1094..1096,1283..1285,1328..1330) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature order(1331..1336,1340..1345) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 1373..1630 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(1550..1552,1595..1597) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature order(1598..1603,1607..1612) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 1640..1858 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature 1934..2170 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(2117..2119,2162..2164) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature 2165..2170 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 2213..>2392 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type III domain; Region: fn3; pfam00041" /db_xref="CDD:200951" misc_feature 2486..2728 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(2660..2662,2705..2707) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature order(2708..2713,2717..2722) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 2750..2986 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(2933..2935,2978..2980) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature 2981..2986 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 3026..3265 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(3200..3202,3245..3247) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature order(3248..3253,3257..3262) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 3290..3547 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; Region: FN3; cd00063" /db_xref="CDD:28945" misc_feature order(3464..3466,3509..3511) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Interdomain contacts; other site" /db_xref="CDD:28945" misc_feature order(3512..3517,3521..3526) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Cytokine receptor motif; other site" /db_xref="CDD:28945" misc_feature 3638..4132 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different...; Region: vWA_collagen_alphaI-XII-like; cd01482" /db_xref="CDD:29255" misc_feature order(3659..3661,3665..3667,3671..3673,3875..3877, 3974..3976) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="metal ion-dependent adhesion site (MIDAS); other site" /db_xref="CDD:29255" misc_feature order(3665..3673,3677..3679,3875..3877) /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="integrin-collagen binding site; other site" /db_xref="CDD:29255" misc_feature 4232..4810 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /note="Thrombospondin N-terminal -like domains; Region: TSPN; smart00210" /db_xref="CDD:128506" exon 240..389 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 390..509 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 510..674 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 675..821 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 822..961 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 919 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="c" /replace="t" /db_xref="dbSNP:34830422" exon 962..1091 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 1092..1234 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 1235..1364 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 1365..1501 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 1502..1631 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 1632..1771 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 1772..1904 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 1887 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="c" /replace="t" /db_xref="dbSNP:240736" exon 1905..1925 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 1926..2068 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 2069..2198 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 2199..2338 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 2339..2468 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 2469..2611 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 2612..2741 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 2736 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="a" /replace="g" /db_xref="dbSNP:34438461" exon 2742..2884 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 2748 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:34336755" variation 2872 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="a" /replace="c" /db_xref="dbSNP:34619869" exon 2885..3014 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 3015..3134 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 3118 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="a" /replace="t" /db_xref="dbSNP:36002196" exon 3135..3281 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 3153 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="a" /replace="t" /db_xref="dbSNP:35523808" exon 3282..3398 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 3399..3545 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 3546..3620 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 3621..3760 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 3761..3884 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 3885..4028 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 3973 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="g" /replace="t" /db_xref="dbSNP:35551395" exon 4029..4193 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 4194..4232 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 4233..4371 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 4372..4514 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 4460 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="a" /replace="g" /db_xref="dbSNP:35710072" exon 4515..4624 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 4625..4774 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 4775..4852 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 4853..4939 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 4911 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="c" /replace="t" /db_xref="dbSNP:34369939" exon 4940..4993 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 4994..5089 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5090..5143 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5144..5197 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5198..5251 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5252..5323 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5324..5359 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5360..5426 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5427..5615 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" exon 5616..5684 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 5654 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="c" /replace="t" /db_xref="dbSNP:34846477" exon 5685..5855 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" variation 5836 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="c" /replace="t" /db_xref="dbSNP:35292916" variation 5846 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="a" /replace="g" /db_xref="dbSNP:970547" exon 5856..8087 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /inference="alignment:Splign:1.39.8" STS 5861..6080 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /standard_name="STS-U73778" /db_xref="UniSTS:53183" polyA_signal 6251..6256 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" polyA_site 6274 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" variation 6987 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /replace="g" /replace="t" /db_xref="dbSNP:202087198" STS 7868..8066 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /standard_name="STS-W72891" /db_xref="UniSTS:69267" STS 7868..8028 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /standard_name="RH47329" /db_xref="UniSTS:14917" STS 7943..8072 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" /standard_name="SHGC-33702" /db_xref="UniSTS:82841" polyA_signal 8066..8071 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" polyA_site 8087 /gene="COL12A1" /gene_synonym="BA209D8.1; COL12A1L; DJ234P15.1" ORIGIN
gcggccgccaggtgctcctggagtgcagcgcctatcgccggggcgtgtgggggccacaccgagcaccagcttctccgacgccgggaagccgctgtcgccgccgctacctctccctgttgccgccgcctcagatctcttcatgccgctgtaagctcggaggccaaggatgcggagtaggcttcccccagcgcttgccgccctgggcgcggccctgctcctgtcttccattgaggcagaagggatggagtgtctcaccagagctgaggcagacattgtgttgctggtggatggatcatggagcatcggccgggcaaattttagaaccgtgaggagtttcatttctcgtattgtggaagtctttgacattggccccaaaagagtacaaattgctcttgctcagtatagtggggatcccagaacagagtggcagttaaatgcacacagagacaagaagagcttgttgcaagctgtggcaaacttgccgtacaaaggaggcaatactctcacaggcatggctttgaatttcattcgccaacagaacttcaggacccaagctggcatgagacctcgagctcgaaaaattggtgtgctcattactgatggaaaatcacaagacgatgttgaagcaccttcaaagaaactcaaggatgagggagtggagctgtttgctattggtattaaaaatgctgatgaagtcgaattaaagatgattgcaactgatcctgatgatacccatgcatacaatgtggcagattttgagtcactctccaggatagtggatgatctcaccattaatttgtgtaacagtgtcaaaggtccaggtgatttggaagcaccttctaacttagttatttctgagcgaacccatcgttcttttagagtgagctggacaccaccttctgacagtgtggatcgatataaggtggaatactatccagtttctggagggaaacgtcaagaattttatgtgagtcgaatggaaactagcacagtgctgaaagatctgaaacctgaaactgaatatgttgtcaatgtgtattctgtggtagaagatgaatatagtgagcctctgaaggggacagaaaaaaccttgccagtgcctgtagtcagcctgaatatttatgatgttggccctaccaccatgcatgtgcagtggcagcctgtgggaggagctactggctacatcttgtcatacaaacctgttaaggacacagagccaacaagacccaaagaggtgcgtttggggccaacagtgaatgacatgcagctgactgaccttgttcccaacacggagtatgcagtcacagtccaggctgtcctgcacgacctcactagtgaacctgtcactgttcgggaagtcaccttgcctttacccagacctcaggatctgaaactcagagatgtgactcacagcactatgaatgtcttttgggaacctgtgcctggaaaagtgcgtaaatatattgttcgatacaaaacaccagaagaggatgtcaaagaggtagaggtggacagatcagagaccagcacttccctcaaagacctcttctcacagaccttgtacacagtcagcgtttctgcagtacatgacgagggggagtctcctccagtgactgctcaagaaactacccgacccgtgccagccccaacaaacttaaagattactgaagtaacatcagagggtttcagagggacttgggatcatggagcttcagatgtgtctctctacagaataacttgggcaccttttggaagctcagataagatggagaccatcttaaatggagatgaaaacactttggtgttcgaaaacctgaaccccaacaccatctatgaagtttccattactgccatctatcctgatgagtcagaaagtgatgacctgattggcagtgagcgcacactgcctatcttaacaacacaagctcccaaaagtggcccacgaaaccttcaagtgtacaatgcaacatctaacagcctgactgttaagtgggatcctgctagtggtcgtgtgcagaaatataggatcacttatcagccttccacaggggaaggcaatgagcaaacgaccacaataggaggacggcagaacagtgtggtcctgcagaaactgaagccagacactccttacactatcaccgtatcctctctgtatcctgatggtgaaggaggtcggatgacgggaagaggcaagaccaaacctctaaacactgtaaggaacctgagagtgtatgacccttctaccagcaccttgaatgtccgctgggaccatgcagagggaaatcctcgtcagtacaagctcttctatgcaccagcagcaggtggtccagaggaactggtaccaatccccgggaataccaattatgccattcttaggaatctgcagccagatacctcatacactgtgactgtagttcccgtttatactgaaggtgatgggggacgcacatcagatactggaaggacattgatgagaggactggcaagaaatgtccaagtatacaatcctacacctaacagcctcgatgttcgctgggaccctgctccaggacctgtgctgcaatatcgcgttgtgtattctcctgtggatggcacaagaccctcagaatctatagtagtgccaggaaacacgcgcatggtgcatctggagcggctgattccggacacactctattccgtgaaccttgtggctctgtactcggatggagagggaaatcccagccctgcccagggccgaacgctaccacgcagtggaccaaggaacctgagagtctttggtgaaacaaccaatagcctctcggtagcctgggatcatgctgatgggccagttcagcagtacaggatcatctattctcccactgttggtgatccaattgatgaatataccacagtcccaggcagaagaaacaatgtaatactgcagcccctgcaacctgacactccatataaaattactgttattgctgtttatgaagatggagatggtggccatctaacaggaaatggaagaactgtgggactccttcctcctcagaacatacacatctctgacgaatggtatacaagattcagggtgtcctgggatccttcaccttctccagttcttggatataaaatagtatataagccagtgggttccaatgagcccatggaagcctttgttggagaaatgacatcatataccttacacaatctcaatcccagcaccacctacgatgtgaatgtttatgctcaatatgattctggactcagtgtccccttgacagatcaaggcactacattatatttaaatgtaacagatctgaaaacttaccagattgggtgggatacattctgtgtcaaatggtcacctcaccgggcagccacctcctacaggctaaaactaagccctgcagatggaacaaggggacaagaaattacagtgcgtggatcagaaaccagtcactgcttcactggcctttcaccagacactgattatggtgtcactgtttttgtgcagacaccaaatctcgagggaccaggagtctctgttaaagaacataccactgtgaaaccaacagaagcccctacagagccacccacacctcctccccctcccaccattccaccagcccgggatgtatgcaaaggggccaaggcagatattgtgttcttgactgatgcctcctggagcattggggacgataattttaacaaagttgtaaaattcatcttcaatactgtgggaggctttgatgaaatcagtcctgctgggattcaggtttcatttgtgcaatacagcgatgaggtcaagtctgagttcaagctgaacacgtacaatgacaaggccctagcccttggggccctccagaatattaggtacagaggaggaaacacaagaacaggcaaggccctcacgtttatcaaggagaaagtcttgacttgggagagcggcatgaggaagaatgtccctaaggtgttggttgtggtcacggacggtcggtcccaggatgaggtcaagaaggcggctttggtcatccagcagtcagggttcagtgtctttgtagttggtgtggctgatgtcgactacaatgagcttgccaacattgccagcaaaccaagtgaacggcacgtgttcattgtggacgactttgaatcttttgagaagatcgaagacaatcttattacatttgtttgtgaaactgccacttcaagttgtcctctcatttatttggatggctacacctcaccaggttttaaaatgcttgaagcatacaacctgacagaaaagaattttgcttctgtacaaggagtatctttggagtcagggtctttccccagctactcagcatacaggattcagaagaatgcgtttgtgaatcagcctacagcagacctacacccaaatggactccctccttcatacacgattatattattattcagacttctcccagaaactcccagtgacccttttgcaatttggcaaatcacagacagagactacaaaccacaagttggagtgattgcagatccttctagcaagacgttatcattctttaacaaggatacaagaggcgaggtgcaaactgttacatttgacacagaagaagtaaagacattattttatggaagttttcacaaggttcatattgtagtgacctcaaaaagtgttaagatttacattgactgctatgaaattatagaaaaagacatcaaggaagctggaaatataacaactgatggttatgaaattcttggaaaactccttaaaggggaaaggaaatcagccgcattccaaatccagagttttgacattgtctgcagtccagtgtggaccagtagagacagatgctgtgatattccctctaggagagatgagggaaaatgccctgcttttccaaattcttgcacatgtacacaggacagcgttggacctccaggacctccaggccctgcaggaggacctggtgctaaaggtcccagaggtgaaagaggtatcagtggggcaattgggccccctggtcctcgtggagacataggtcctccaggcccccagggtcctccaggccctcagggacccaatggactctctattccgggagagcaaggtcgccaagggatgaaaggtgatgctggagagccaggacttccaggccgaacaggaaccccaggattacctggcccaccaggaccaatgggacctccaggagacagaggcttcactggaaaagacggtgcaatgggacccaggggcccaccagggccgccgggaagcccaggctccccaggagtcacaggaccaagtgggaagccaggaaaacctggagatcatggcagaccaggtccatctgggttgaaaggagaaaaaggtgataggggagacattgcttcccagaacatgatgcgagcagttgcaagacaagtctgtgaacaattgataagtggtcagatgaacagattcaatcagatgctgaatcagattccaaatgattaccagtccagtcgcaaccagccaggcccgccgggtccaccgggacctcctggtagcgcaggagccagaggagaacctgggcctggggggcggccaggcttcccgggcacaccagggatgcagggaccccctggggaacgaggtttgccaggagagaaaggtgaaaggggtactggatcttcaggacctcgggggctgcctggccccccaggtccacaaggagaatccagaacaggtccaccagggtccacaggttcaagaggtccccctggcccccctggccgtcctggaaactcaggtatccgaggacccccaggtcctcctggatactgtgattcttctcagtgtgccagcatcccatacaacgggcaaggctatccaggttccggctaacacattttctaagtcgccagtgctgcttacagtttgaatacatgaaaatcctgtttctgagatgtttgcgcacgtgcttattaggaaatgagtctgtatggaaatctcaccacagataatggttaacgaaccgggtcgacatcacaaaggagggtggagactctttttactaacttgaatgagacaaaagcagtggtgtcagtttataatcctgatgcatttcagtaataatgtagaaaaacattattttaaaaaagttccaacacacagccatgaggagcctcagttttgaaagaggtgcataataaaactactaaccagaggagtctatgccattttaagaaaaacaattaacctggttaaagagaaatgtcttatgtaaataataaactaattgtggcttgtaaatgatttgtatgtgatcctgtcgactaaaatcacttaacaattctacaataagcttctgcatcaaagcctgccgcttgctctatgccggaataacaccaaatggaatctcctcatctcttgcttgttagcgatgtgtctgattcagggcatctgtctttttgttacttttttgtccgtgtcctctcatttgggttttgtaactgcaattttcaaaccaaagtttaaaatcaccttttcttcctgttttgctgtagtcactggtgttcctcacccaccagctgtaactcagtttgtgtgaggtacagccacagaagatgtcatgtactgtatattacctggtgatagttgcttttcaccccccgagttcagtttctaggagccaatgaaacttcccctcacctcctcatctttccaagttgttctttgaattgaggagtttgaaggcataaacagttacttggggatttgcgaaaatcctacttagttactgcgtttacagttctttggcccagtctctgacccttcccaagtatttgtgcaatgattgtgtttactgctggatttttgaaggtttttttttttaagaaagtgccatttcattatttgattatcaccaaattatctggaaataattgggacattgtaacttatctatttatagttatgagattaagactggagtgccatcaccgcgggtgatgatttagcttttgctgtgtgtgtgtgtgtgtgccttccaaatcatgccataattgtaatgttgaatcggacagagccttacgtgcccgagggcggggcctacctgcctgagcgcgagcccttcatcgtgccggtggagcccgagcggacagcggaatacgaggactacggcgcagacgagcctgcagaggagcctcctgagccccaccggcgctggcggcgcgccctgccccacggacccgggcagtgaaccagagatcacgcgccgcgccgcgaggcttgggggaggtgttgaaattctcatttacaggtcagatagagcagtgtacgtcttttctgaggtgtttcttccagcgttgctcatccaggagtaccctttctgattgtagagaaccttgtttctgcaggaagcctagctccaagcacgcagtctgtagacatttttgcctttgcccttgaaatgcttgcaaaatactttgttaacaaaagctgcaaagagagaacatgccgtgtgcctttagttagcacagcgggcagcctcagtgaaactcttaggttaagcagttaagtcctggaacccagagctgctgtgtatttcgagcgggcagtttatcttttgctatacttattttcaattcaattacaccacgattcaaataattcccctcctaaaaccaaaaaggagggaaacgtcaactccattgcaattacttatcttcctcttctatctctgttatacgccggggcatagaatgctcgtatacatctctttaacaaccacaaaccttaagccatgtagatgaagttagtgcatcaacgggatacagttccatattgccttaaacctccttgttttagacacactaacatttataccaaattgcagattattctgcagagagggaattgcatgtttgtgttgtatatttagtatgaacttttttcagaatataatatttcttagttatcaaaagtagttggaaaacatttgcaagactatgaacatagaattgctgcttttatattttaactgcagattgtgaatttcactgccttatattatttatttctgaaacaaaagaggcatttttcaataaaactactgaaaatttga
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1303 -> Molecular function: GO:0030020 [extracellular matrix structural constituent conferring tensile strength] evidence: NAS GeneID:1303 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS GeneID:1303 -> Biological process: GO:0007155 [cell adhesion] evidence: IEA GeneID:1303 -> Biological process: GO:0022617 [extracellular matrix disassembly] evidence: TAS GeneID:1303 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS GeneID:1303 -> Biological process: GO:0030199 [collagen fibril organization] evidence: NAS GeneID:1303 -> Biological process: GO:0030574 [collagen catabolic process] evidence: TAS GeneID:1303 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS GeneID:1303 -> Cellular component: GO:0005595 [collagen type XII] evidence: NAS GeneID:1303 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA GeneID:1303 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS GeneID:1303 -> Cellular component: GO:0031012 [extracellular matrix] evidence: IDA GeneID:1303 -> Cellular component: GO:0070062 [extracellular vesicular exosome] evidence: IDA
by
@meso_cacase at
DBCLS
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