CPAMD8
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8
Also known as: CPMD8_HUMAN, K-CAP, KIAA1283, VIP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IZJ3
- Gene
- CPAMD8
- Ensembl
- ENSG00000160111
- Chromosome
- 19
- Canonical length
- 1885 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Focal adhesion sites
- Secretome location
- Secreted to blood
OverviewNCBI Gene
This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
Canonical amino-acid sequenceUniProt
1885 residues, UniProt reviewed canonical sequence.
>Q8IZJ3|CPAMD8
1 MSGALLWPLL PLLLLLLSAR DGVRAAQPQA PGYLIAAPSV FRAGVEEVIS VTIFNSPREV
61 TVQAQLVAQG EPVVQSQGAI LDKGTIKLKV PTGLRGQALL KVWGRGWQAE EGPLFHNQTS
121 VTVDGRGASV FIQTDKPVYR PQHRVLISIF TVSPNLRPVN EKLEAYILDP RGSRMIEWRH
181 LKPFCCGITN MSFPLSDQPV LGEWFIFVEM QGHAYNKSFE VQKYVLPKFE LLIDPPRYIQ
241 DLDACETGTV RARYTFGKPV AGALMINMTV NGVGYYSHEV GRPVLRTTKI LGSRDFDICV
301 RDMIPADVPE HFRGRVSIWA MVTSVDGSQQ VAFDDSTPVQ RQLVDIRYSK DTRKQFKPGL
361 AYVGKVELSY PDGSPAEGVT VQIKAELTPK DNIYTSEVVS QRGLVGFEIP SIPTSAQHVW
421 LETKVMALNG KPVGAQYLPS YLSLGSWYSP SQCYLQLQPP SHPLQVGEEA YFSVKSTCPC
481 NFTLYYEVAA RGNIVLSGQQ PAHTTQQRSK RAAPALEKPI RLTHLSETEP PPAPEAEVDV
541 CVTSLHLAVT PSMVPLGRLL VFYVRENGEG VADSLQFAVE TFFENQVSVT YSANETQPGE
601 VVDLRIRAAR GSCVCVAAVD KSVYLLRSGF RLTPAQVFQE LEDYDVSDSF GVSREDGPFW
661 WAGLTAQRRR RSSVFPWPWG ITKDSGFAFT ETGLVVMTDR VSLNHRQDGG LYTDEAVPAF
721 QPHTGSLVAV APSRHPPRTE KRKRTFFPET WIWHCLNISD PSGEGTLSVK VPDSITSWVG
781 EAVALSTSQG LGIAEPSLLK TFKPFFVDFM LPALIIRGEQ VKIPLSVYNY MGTCAEVYMK
841 LSVPKGIQFV GHPGKRHVTK KMCVAPGEAE PIWVVLSFSD LGLNNITAKA LAYGDTNCCR
901 DGRSSKHPEE NHADRRVPIG VDHVRRSVMV EAEGVPRAYT YSAFFCPSER VHISTPNKYE
961 FQYVQRPLRL TRFDVAVRAH NDARVALSSG PQDTAGMIEI VLGGHQNTRS WISTSKMGEP
1021 VASAHTAKIL SWDEFRTFWI SWRGGLIQVG HGPEPSNESV IVAWTLPRPP EVQFIGFSTG
1081 WGSMGEFRIW RKMEVDESYS EAFTLGVPHG AIPGSERATA SIIGDVMGPT LNHLNNLLRL
1141 PFGCGEQNMI HFAPNVFVLK YLQKTQQLSP EVERETTDYL VQGYQRQLTY KRQDGSYSAF
1201 GERDASGSMW LTAFVLKSFA QARSFIFVDP RELAAAKSWI IQQQQADGSF LAVGRVLNKD
1261 IQGGIHGTVP LTAYVVVALL ETGTASEEER GSTDKARHFL ESAAPLAMDP YSCALTTYAL
1321 TLLRSPAAPE ALRKLRSLAI MRDGVTHWSL SNSWDVDKGT FLSFSDRVSQ SVVSAEVEMT
1381 AYALLTYTLL GDVAAALPVV KWLSQQRNAL GGFSSTQDTC VALQALAEYA ILSYAGGINL
1441 TVSLASTNLD YQETFELHRT NQKVLQTAAI PSLPTGLFVS AKGDGCCLMQ IDVTYNVPDP
1501 VAKPAFQLLV SLQEPEAQGR PPPMPASAAE GSRGDWPPAD DDDPAADQHH QEYKVMLEVC
1561 TRWLHAGSSN MAVLEVPLLS GFRADIESLE QLLLDKHMGM KRYEVAGRRV LFYFDEIPSR
1621 CLTCVRFRAL RECVVGRTSA LPVSVYDYYE PAFEATRFYN VSTHSPLARE LCAGPACNEV
1681 ERAPARGPGW FPGESGPAVA PEEGAAIARC GCDHDCGAQG NPVCGSDGVV YASACRLREA
1741 ACRQAAPLEP APPSCCALEQ RLPASSSSTY GDDLASVAPG PLQQDVKLNG AGLEVEDSDP
1801 EPEGEAEDRV TAGPRPPVSS GNLESSTQSA SPFHRWGQTP APQRHSGRVV GAHRPGLLSP
1861 VFVYSPAFQS GGEEGLWMSN TCTLRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CPAMD8 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- seminal vesicle: 35 nTPM
- prostate: 15 nTPM
- epididymis: 14 nTPM
- lung: 13 nTPM
- heart muscle: 12 nTPM
- thyroid gland: 11 nTPM
Single-cell type
- ocular epithelial cells: 199 nCPM
- prostatic glandular cells: 138 nCPM
- renal collecting duct intercalated cells: 121 nCPM
- renal collecting duct principal cells: 120 nCPM
- epididymal principal cells: 120 nCPM
- basal prostatic cells: 102 nCPM
Immune cell
- classical monocyte: 0.1 nTPM
- eosinophil: 0.1 nTPM
- basophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 64 nTPM
- white matter: 58 nTPM
- midbrain: 56 nTPM
- spinal cord: 45 nTPM
- medulla oblongata: 43 nTPM
- thalamus: 35 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CPAMD8.
Disease | AllUniProt
Conditions CPAMD8 is implicated in, by any mechanism.
- Anterior segment dysgenesis 8 (ASGD8) MIM:617319
Disease | GeneticClinVar
33 pathogenic / likely-pathogenic of 729 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Anterior segment dysgenesis 8
- Anterior segment dysgenesis
- CPAMD8-related disorder
- Familial cancer of breast
- Abnormal anterior eye segment morphology
Disease | ImmuneIEDB
Conditions an epitope on CPAMD8 was assayed in.
- viral infectious disease T cell
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)
- 0.67
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.17
- DepMap mean gene effect
- -0.34
- DepMap dependency class
- selective
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
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Alpha-2-macroglobulin
- Kazal domain
- Macroglobulin domain
- Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
- Alpha-macroglobulin, receptor-binding
- Alpha-2-macroglobulin, bait region domain
- Alpha-macroglobulin-like, TED domain
- Immunoglobulin-like fold
- Immunoglobulin E-set
- Alpha-2-macroglobulin, conserved site
- Kazal domain superfamily
- Alpha-macroglobulin, receptor-binding domain superfamily
- Macroglobulin domain MG4
- Macroglobulin domain MG3
- Alpha-2-macroglobulin, TED domain
- Alpha-macroglobulin-like, thiol-ester bond-forming region
- Alpha-2-macroglobulin/Complement system
- Alpha-2-macroglobulin family
- MG2 domain
- Kazal-type serine protease inhibitor domain
- A-macroglobulin receptor binding domain
- A-macroglobulin TED domain
- Alpha-2-macroglobulin bait region domain
- Macroglobulin domain MG4
- Macroglobulin domain MG3
- Farnesoic acid O-methyl transferase
- Farnesoic acid 0-methyl transferase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CPAMD8 as an antibody target. Whether an autoantibody or antibody against CPAMD8 could matter depends on whether native CPAMD8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CPAMD8 is annotated at the cell surface, where native CPAMD8 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CPAMD8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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