COL6A6
Collagen alpha-6(VI) chain
Also known as: CO6A6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A6NMZ7
- Gene
- COL6A6
- Ensembl
- ENSG00000206384
- Chromosome
- 3
- Canonical length
- 2263 aa
- Protein class
- Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to extracellular matrix
OverviewNCBI Gene
This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]
Canonical amino-acid sequenceUniProt
2263 residues, UniProt reviewed canonical sequence.
>A6NMZ7|COL6A6
1 MMLLILFLVI ICSHISVNQD SGPEYADVVF LVDSSDRLGS KSFPFVKMFI TKMISSLPIE
61 ADKYRVALAQ YSDKLHSEFH LSTFKGRSPM LNHLRKNFGF IGGSLQIGKA LQEAHRTYFS
121 APANGRDKKQ FPPILVVLAS SESEDNVEEA SKALRKDGVK IISVGVQKAS EENLKAMATS
181 QFHFNLRTVR DLSMFSQNMT HIIKDVIKYK EGAVDDIFVE ACQGPSMADV VFLLDMSING
241 SEENFDYLKG FLEESVSALD IKENCMRVGL VAYSNETKVI NSLSMGINKS EVLQHIQNLS
301 PRTGKAYTGA AIKKLRKEVF SARNGSRKNQ GVPQIAVLVT HRDSEDNVTK AAVNLRREGV
361 TIFTLGIEGA SDTQLEKIAS HPAEQYVSKL KTFADLAAHN QTFLKKLRNQ ITHTVSVFSE
421 RTETLKSGCV DTEEADIYLL IDGSGSTQAT DFHEMKTFLS EVVGMFNIAP HKVRVGAVQY
481 ADSWDLEFEI NKYSNKQDLG KAIENIRQMG GNTNTGAALN FTLSLLQKAK KQRGNKVPCH
541 LVVLTNGMSK DSILEPANRL REEHIRVYAI GIKEANQTQL REIAGEEKRV YYVHDFDALK
601 DIRNQVVQEI CTEEACKEMK ADIMFLVDSS GSIGPENFSK MKTFMKNLVS KSQIGPDRVQ
661 IGVVQFSDIN KEEFQLNRFM SQSDISNAID QMAHIGQTTL TGSALSFVSQ YFSPTKGARP
721 NIRKFLILIT DGEAQDIVKE PAVVLRQEGV IIYSVGVFGS NVTQLEEISG RPEMVFYVEN
781 FDILQRIEDD LVFGICSPRE ECKRIEVLDV VFVIDSSGSI DYDEYNIMKD FMIGLVKKAD
841 VGKNQVRFGA LKYADDPEVL FYLDDFGTKL EVISVLQNDQ AMGGSTYTAE ALGFSDHMFT
901 EARGSRLNKG VPQVLIVITD GESHDADKLN ATAKALRDKG ILVLAVGIDG ANPVELLAMA
961 GSSDKYFFVE TFGGLKGIFS DVTASVCNSS KVDCEIDKVD LVFLMDGSTS IQPNDFKKMK
1021 EFLASVVQDF DVSLNRVRIG AAQFSDTYHP EFPLGTFIGE KEISFQIENI KQIFGNTHIG
1081 AALREVEHYF RPDMGSRINT GTPQVLLVLT DGQSQDEVAQ AAEALRHRGI DIYSVGIGDV
1141 DDQQLIQITG TAEKKLTVHN FDELKKVNKR IVRNICTTAG ESNCFVDVVV GFDVSTQEKG
1201 QTLLEGQPWM ETYLQDILRA ISSLNGVSCE VGTETQVSVA FQVTNAMEKY SPKFEIYSEN
1261 ILNSLKDITV KGPSLLNANL LDSLWDTFQN KSAARGKVVL LFSDGLDDDV EKLEQKSDEL
1321 RKEGLNALIT VALDGPADSS DLADLPYIEF GKGFEYRTQL SIGMRELGSR LSKQLVNVAE
1381 RTCCCLFCKC IGGDGTMGDP GPPGKRGPPG FKGSEGYLGE EGIAGERGAP GPVGEQGTKG
1441 CYGTKGPKGN RGLNGQEGEV GENGIDGLNG EQGDNGLPGR KGEKGDEGSQ GSPGKRGTPG
1501 DRGAKGLRGD PGAPGVDSSI EGPTGLKGER GRQGRRGWPG PPGTPGSRRK TAAHGRRGHT
1561 GPQGTAGIPG PDGLEGSLGL KGPQGPRGEA GVKGEKGGVG SKGPQGPPGP GGEAGNQGRL
1621 GSQGNKGEPG DLGEKGAVGF PGPRGLQGND GSPGYGSVGR KGAKGQEGFP GESGPKGEIG
1681 DPGGPGETGL KGARGKMISA GLPGEMGSPG EPGPPGRKGV KGAKGLASFS TCELIQYVRD
1741 RSPGRHGKPE CPVHPTELVF ALDHSRDVTE QEFERMKEMM AFLVRDIKVR ENSCPVGAHI
1801 AILSYNSHAR HLVRFSDAYK KSQLLREIET IPYERSSASR EIGRAMRFIS RNVFKRTLPG
1861 AHTRKIATFF SSGQSADAHS ITTAAMEFGA LEIIPVVITF SNVPSVRRAF AIDDTGTFQV
1921 IVVPSGADYI PALERLQRCT FCYDVCKPDA SCDQARPPPV QSYMDAAFLL DASRNMGSAE
1981 FEDIRAFLGA LLDHFEITPE PETSVTGDRV ALLSHAPPDF LPNTQKSPVR AEFNLTTYRS
2041 KRLMKRHVHE SVKQLNGDAF IGHALQWTLD NVFLSTPNLR RNKVIFVISA GETSHLDGEI
2101 LKKESLRAKC QGYALFVFSL GPIWDDKELE DLASHPLDHH LVQLGRIHKP DHSYGVKFVK
2161 SFINSIRRAI NKYPPINLKI KCNRLNSIDP KQPPRPFRSF VPGPLKATLK EDVLQKAKFF
2221 QDKKYLSRVA RSGRDDAIQN FMRSTSHTFK NGRMIESAPK QHDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against COL6A6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 99 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 99 nTPM
- lung: 7.2 nTPM
- heart muscle: 2.9 nTPM
- pituitary gland: 2.5 nTPM
- breast: 2.3 nTPM
- adipose tissue: 1.7 nTPM
Single-cell type
- lactotrophs: 265 nCPM
- cardiomyocytes: 138 nCPM
- somatotrophs: 118 nCPM
- fibro-adipogenic progenitors: 84 nCPM
- other brain neurons: 74 nCPM
- mesothelial cells: 50 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 1 nTPM
- cerebral cortex: 1 nTPM
- thalamus: 0.9 nTPM
- white matter: 0.7 nTPM
- hippocampal formation: 0.5 nTPM
- pons: 0.5 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.01
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.42
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads COL6A6 as an antibody target. Whether an autoantibody or antibody against COL6A6 could matter depends on whether native COL6A6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
COL6A6 is annotated as secreted, so native COL6A6 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label COL6A6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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