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1301 COL11A1

1301

COL11A1

collagen type XI alpha 1 chain

protein-coding

Homo sapiens

基因描述

Type Description
Definition collagen type XI alpha 1 chain

研究结论

Date Results Publications
2021-03-27 14:42:00 Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. 32427345
2021-03-20 13:28:00 Mutation Spectrum and Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. 32756486
2021-01-09 13:26:00 Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. 31833174
2020-12-12 13:28:00 Multifactor dimensionality reduction reveals a strong gene-gene interaction between STC1 and COL11A1 genes as a possible risk factor of knee osteoarthritis. 32140959
2020-12-12 13:27:00 Influence of genetic factors in elbow tendon pathology: a case-control study. 32300121

名称对应

Type IDs
Synonymous CO11A1, COLL6, STL2
Gene
UniProtKB-ID: COBA1_HUMAN, Q59HB5_HUMAN
UniprotKB: P12107, Q59HB5
UniParc: UPI00002053EF, UPI0000456217, UPI0001BE80B2, UPI00004F6A88, UPI0000456216
EMBL: AF101109, AF101104, AF101107, BC117697, AF101091, AF101084, AF101111, AF101082, AF101094, AL627203, L38956, AF101096, AF101100, J04177, AF101092, AC093150, AF101105, AF101081, AF101103, AF101098, AF101083, AF101087, AF101085, AF101110, AF101106, AF101090, AF101080, AF101099, AC099567, AF101088, AF101108, AF101095, CH471097, AF101112, AF101089, AF101093, AF101086, AB208844, AF101097, AF101101, AF101102, AF101079
Ensembl: ENSG00000060718
KO: hsa:1301
Nucleutide sequences
EMBL-CDS: AAA79171.1, AAF04724.1, AAA51891.1, EAW72910.1, AAF04725.1, AAF04726.1, AAI17698.1, EAW72908.1, BAD92081.1
Ensembl_TRS: ENST00000512756, ENST00000370096, ENST00000358392, ENST00000353414
Protein sequencees
Ensembl_PRO: ENSP00000359114, ENSP00000302551, ENSP00000426533, ENSP00000351163
RefSeq: XP_016855826.1, NP_001845.3, NP_542196.2, XP_016855825.1, XP_016855823.1, XP_016855824.1, NP_542197.3, NP_001177638.1
Others
UniRef100: UniRef100_P12107, UniRef100_Q59HB5
UniRef90: UniRef90_A0A3P4LZ29, UniRef90_P12107
UniRef50: UniRef50_P12107, UniRef50_A0A674CB24
UniGene: Hs.523446
CCDS: CCDS778.1, CCDS53348.1, CCDS780.2

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