Seroatlas · Human Serome Atlas

COL22A1

Collagen alpha-1(XXII) chain

Also known as: COMA1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8NFW1
Gene: COL22A1
Ensembl: ENSG00000169436
Chromosome: 8
Canonical length: 1626 aa
Protein class: Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Endoplasmic reticulum,Vesicles
Secretome location: Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

1626 residues, UniProt reviewed canonical sequence.

>Q8NFW1|COL22A1
     1  MAGLRGNAVA GLLWMLLLWS GGGGCQAQRA GCKSVHYDLV FLLDTSSSVG KEDFEKVRQW
    61  VANLVDTFEV GPDRTRVGVV RYSDRPTTAF ELGLFGSQEE VKAAARRLAY HGGNTNTGDA
   121  LRYITARSFS PHAGGRPRDR AYKQVAILLT DGRSQDLVLD AAAAAHRAGI RIFAVGVGEA
   181  LKEELEEIAS EPKSAHVFHV SDFNAIDKIR GKLRRRLCEN VLCPSVRVEG DRFKHTNGGT
   241  KEITGFDLMD LFSVKEILGK RENGAQSSYV RMGSFPVVQS TEDVFPQGLP DEYAFVTTFR
   301  FRKTSRKEDW YIWQVIDQYS IPQVSIRLDG ENKAVEYNAV GAMKDAVRVV FRGSRVNDLF
   361  DRDWHKMALS IQAQNVSLHI DCALVQTLPI EERENIDIQG KTVIGKRLYD SVPIDFDLQR
   421  IVIYCDSRHA ELETCCDIPS GPCQVTVVTE PPPPPPPQRP PTPGSEQIGF LKTINCSCPA
   481  GEKGEMGVAG PMGLPGPKGD IGAIGPVGAP GPKGEKGDVG IGPFGQGEKG EKGSLGLPGP
   541  PGRDGSKGMR GEPGELGEPG LPGEVGMRGP QGPPGLPGPP GRVGAPGLQG ERGEKGTRGE
   601  KGERGLDGFP GKPGDTGQQG RPGPSGVAGP QGEKGDVGPA GPPGVPGSVV QQEGLKGEQG
   661  APGPRGHQGA PGPPGARGPI GPEGRDGPPG LQGLRGKKGD MGPPGIPGLL GLQGPPGPPG
   721  VPGPPGPGGS PGLPGEIGFP GKPGPPGPTG PPGKDGPNGP PGPPGTKGEP GERGEDGLPG
   781  KPGLRGEIGE QGLAGRPGEK GEAGLPGAPG FPGVRGEKGD QGEKGELGLP GLKGDRGEKG
   841  EAGPAGPPGL PGTTSLFTPH PRMPGEQGPK GEKGDPGLPG EPGLQGRPGE LGPQGPTGPP
   901  GAKGQEGAHG APGAAGNPGA PGHVGAPGPS GPPGSVGAPG LRGTPGKDGE RGEKGAAGEE
   961  GSPGPVGPRG DPGAPGLPGP PGKGKDGEPG LRGSPGLPGP LGTKAACGKV RGSENCALGG
  1021  QCVKGDRGAP GIPGSPGSRG DPGIGVAGPP GPSGPPGDKG SPGSRGLPGF PGPQGPAGRD
  1081  GAPGNPGERG PPGKPGLSSL LSPGDINLLA KDVCNDCPPG PPGLPGLPGF KGDKGVPGKP
  1141  GREGTEGKKG EAGPPGLPGP PGIAGPQGSQ GERGADGEVG QKGDQGHPGV PGFMGPPGNP
  1201  GPPGADGIAG AAGPPGIQGS PGKEGPPGPQ GPSGLPGIPG EEGKEGRDGK PGPPGEPGKA
  1261  GEPGLPGPEG ARGPPGFKGH TGDSGAPGPR GESGAMGLPG QEGLPGKDGD TGPTGPQGPQ
  1321  GPRGPPGKNG SPGSPGEPGP SGTPGQKGSK GENGSPGLPG FLGPRGPPGE PGEKGVPGKE
  1381  GVPGKPGEPG FKGERGDPGI KGDKGPPGGK GQPGDPGIPG HKGHTGLMGP QGLPGENGPV
  1441  GPPGPPGQPG FPGLRGESPS METLRRLIQE ELGKQLETRL AYLLAQMPPA YMKSSQGRPG
  1501  PPGPPGKDGL PGRAGPMGEP GRPGQGGLEG PSGPIGPKGE RGAKGDPGAP GVGLRGEMGP
  1561  PGIPGQPGEP GYAKDGLPGI PGPQGETGPA GHPGLPGPPG PPGQCDPSQC AYFASLAARP
  1621  GNVKGP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL22A1 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): 0.61
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 40 nTPM
adrenal gland: 7.2 nTPM
retina: 4.8 nTPM
kidney: 2.9 nTPM
prostate: 2.8 nTPM
seminal vesicle: 2.3 nTPM

Single-cell type

gonadotrophs: 412 nCPM
bergmann glia: 230 nCPM
thyrotrophs: 204 nCPM
lactotrophs: 101 nCPM
oocytes: 97 nCPM
müller glia: 93 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

spinal cord: 9 nTPM
medulla oblongata: 6.2 nTPM
cerebellum: 5.9 nTPM
white matter: 4.7 nTPM
hypothalamus: 4.6 nTPM
midbrain: 2.7 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): 0.92
gnomAD pLI: 0
gnomAD missense Z: -0.37
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

extracellular matrix structural constituent conferring tensile strength

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads COL22A1 as an antibody target. Whether an autoantibody or antibody against COL22A1 could matter depends on whether native COL22A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COL22A1 is annotated as secreted, so native COL22A1 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 COL22A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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