Human Gene COL6A1 (ENST00000498614.5) from GENCODE V44
Description: collagen type VI alpha 1 chain (from HGNC COL6A1) RefSeq Summary (NM_001848): The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000498614.5 Gencode Gene: ENSG00000142156.16 Transcript (Including UTRs) Position: hg38 chr21:46,001,197-46,005,050 Size: 3,854 Total Exon Count: 6 Strand: +
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
LF208795 - JP 2014500723-A/16298: Polycomb-Associated Non-Coding RNAs. MA444372 - JP 2018138019-A/16298: Polycomb-Associated Non-Coding RNAs. BC052575 - Homo sapiens collagen, type VI, alpha 1, mRNA (cDNA clone MGC:59702 IMAGE:6598940), complete cds. AK307989 - Homo sapiens cDNA, FLJ97937. AK298968 - Homo sapiens cDNA FLJ58994 complete cds, highly similar to Collagen alpha-1(VI) chain precursor. AK299396 - Homo sapiens cDNA FLJ61362 complete cds, highly similar to Collagen alpha-1(VI) chain precursor. GQ891373 - Homo sapiens clone HEL-S-161m epididymis secretory sperm binding protein mRNA, complete cds. BC005159 - Homo sapiens collagen, type VI, alpha 1, mRNA (cDNA clone IMAGE:3506644), partial cds. X15880 - Human mRNA for collagen VI alpha-1 C-terminal globular domain. BC022236 - Homo sapiens, clone IMAGE:4178997, mRNA, partial cds. LF322923 - JP 2014500723-A/130426: Polycomb-Associated Non-Coding RNAs. MA558500 - JP 2018138019-A/130426: Polycomb-Associated Non-Coding RNAs. LF322921 - JP 2014500723-A/130424: Polycomb-Associated Non-Coding RNAs. MA558498 - JP 2018138019-A/130424: Polycomb-Associated Non-Coding RNAs. LF322918 - JP 2014500723-A/130421: Polycomb-Associated Non-Coding RNAs. MA558495 - JP 2018138019-A/130421: Polycomb-Associated Non-Coding RNAs. LF322916 - JP 2014500723-A/130419: Polycomb-Associated Non-Coding RNAs. MA558493 - JP 2018138019-A/130419: Polycomb-Associated Non-Coding RNAs. LF322914 - JP 2014500723-A/130417: Polycomb-Associated Non-Coding RNAs. MA558491 - JP 2018138019-A/130417: Polycomb-Associated Non-Coding RNAs. LF322912 - JP 2014500723-A/130415: Polycomb-Associated Non-Coding RNAs. MA558489 - JP 2018138019-A/130415: Polycomb-Associated Non-Coding RNAs. LF322911 - JP 2014500723-A/130414: Polycomb-Associated Non-Coding RNAs. MA558488 - JP 2018138019-A/130414: Polycomb-Associated Non-Coding RNAs. LF322909 - JP 2014500723-A/130412: Polycomb-Associated Non-Coding RNAs. MA558486 - JP 2018138019-A/130412: Polycomb-Associated Non-Coding RNAs. LF322908 - JP 2014500723-A/130411: Polycomb-Associated Non-Coding RNAs. MA558485 - JP 2018138019-A/130411: Polycomb-Associated Non-Coding RNAs. LF322907 - JP 2014500723-A/130410: Polycomb-Associated Non-Coding RNAs. MA558484 - JP 2018138019-A/130410: Polycomb-Associated Non-Coding RNAs. JD525201 - Sequence 506225 from Patent EP1572962. LP886334 - Sequence 226 from Patent WO2017201352. LP978091 - Sequence 226 from Patent WO2017120612. JD395972 - Sequence 376996 from Patent EP1572962. JD395973 - Sequence 376997 from Patent EP1572962. JD426259 - Sequence 407283 from Patent EP1572962. JD318392 - Sequence 299416 from Patent EP1572962. JD421720 - Sequence 402744 from Patent EP1572962. JD143024 - Sequence 124048 from Patent EP1572962. JD426259 - Sequence 407283 from Patent EP1572962. JD125889 - Sequence 106913 from Patent EP1572962. JD465243 - Sequence 446267 from Patent EP1572962. JD392775 - Sequence 373799 from Patent EP1572962. JD192437 - Sequence 173461 from Patent EP1572962. JD157395 - Sequence 138419 from Patent EP1572962. JD157396 - Sequence 138420 from Patent EP1572962. JD282390 - Sequence 263414 from Patent EP1572962. JD231195 - Sequence 212219 from Patent EP1572962. JD176670 - Sequence 157694 from Patent EP1572962. JD450084 - Sequence 431108 from Patent EP1572962. JD217219 - Sequence 198243 from Patent EP1572962. JD307863 - Sequence 288887 from Patent EP1572962. JD412183 - Sequence 393207 from Patent EP1572962. JD310783 - Sequence 291807 from Patent EP1572962. JD152132 - Sequence 133156 from Patent EP1572962. JD487748 - Sequence 468772 from Patent EP1572962. JD109005 - Sequence 90029 from Patent EP1572962. JD391390 - Sequence 372414 from Patent EP1572962. JD139620 - Sequence 120644 from Patent EP1572962. JD245924 - Sequence 226948 from Patent EP1572962. JD361040 - Sequence 342064 from Patent EP1572962. MB419113 - JP 2019519516-A/75: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER. MB419978 - JP 2019519516-A/940: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04510 - Focal adhesion hsa04512 - ECM-receptor interaction