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Protein

C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8

Gene

CPAMD8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • eye development Source: UniProtKB

Keywordsi

Molecular functionProtease inhibitor, Serine protease inhibitor

Names & Taxonomyi

Protein namesi
Recommended name:
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 81 Publication
Gene namesi
Name:CPAMD8Imported
Synonyms:KIAA1283Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000160111.12
HGNCiHGNC:23228 CPAMD8
MIMi608841 gene
neXtProtiNX_Q8IZJ3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Anterior segment dysgenesis 8 (ASGD8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra-ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance.
See also OMIM:617319
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0779331404S → P in ASGD8. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi27151
MalaCardsiCPAMD8
MIMi617319 phenotype
PharmGKBiPA134915057

Polymorphism and mutation databases

BioMutaiCPAMD8
DMDMi259016204

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000031769526 – 1885C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8Add BLAST1860

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi117N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi190N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi267N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi757N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1439N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1712 ↔ 1742PROSITE-ProRule annotation
Disulfide bondi1716 ↔ 1735PROSITE-ProRule annotation
Disulfide bondi1724 ↔ 1755PROSITE-ProRule annotation

Post-translational modificationi

Proteolytically cleaved into 2 chains of about 70 and 130 kDa. The fragments are not connected by disulfide bonds.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei671 – 672Cleavage; by furin-like proteaseCurated2

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8IZJ3
PeptideAtlasiQ8IZJ3
PRIDEiQ8IZJ3

PTM databases

iPTMnetiQ8IZJ3
PhosphoSitePlusiQ8IZJ3

Expressioni

Tissue specificityi

Highly expressed in the kidney, brain and testis and to a lower extent in heart, liver and small intestine (PubMed:15177561). Expressed in the lens, cornea and retina. Strongly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body (PubMed:27839872).2 Publications

Developmental stagei

Expressed early in development of the eye (week 9 to week 22 of gestation).1 Publication

Inductioni

Up-regulated by IL1B/interleukin-1 beta and IL6/interleukin-6.1 Publication

Gene expression databases

BgeeiENSG00000160111
CleanExiHS_CPAMD8
ExpressionAtlasiQ8IZJ3 baseline and differential
GenevisibleiQ8IZJ3 HS

Organism-specific databases

HPAiHPA031327
HPA031328
HPA031329
HPA031330

Interactioni

Subunit structurei

Interacts with heparin.1 Publication

Protein-protein interaction databases

BioGridi118033, 2 interactors
STRINGi9606.ENSP00000402505

Structurei

3D structure databases

ProteinModelPortaliQ8IZJ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1706 – 1757Kazal-likePROSITE-ProRule annotationAdd BLAST52

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi668 – 671Poly-Arg4
Compositional biasi1242 – 1245Poly-Gln4
Compositional biasi1540 – 1543Poly-Asp4
Compositional biasi1765 – 1768Poly-Ser4

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IMYE Eukaryota
ENOG4111F6K LUCA
HOGENOMiHOG000168521
HOVERGENiHBG107753
InParanoidiQ8IZJ3
OrthoDBiEOG091G007T
PhylomeDBiQ8IZJ3
TreeFamiTF313285

Family and domain databases

Gene3Di2.60.40.10, 2 hits
2.60.40.690, 1 hit
InterProiView protein in InterPro
IPR009048 A-macroglobulin_rcpt-bd
IPR036595 A-macroglobulin_rcpt-bd_sf
IPR011626 A2M_comp
IPR002890 A2M_N
IPR011625 A2M_N_2
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002350 Kazal_dom
IPR036058 Kazal_dom_sf
IPR001599 Macroglobln_a2
IPR019742 MacrogloblnA2_CS
IPR019565 MacrogloblnA2_thiol-ester-bond
IPR022041 Methyltransf_FA
IPR008930 Terpenoid_cyclase/PrenylTrfase
PfamiView protein in Pfam
PF00207 A2M, 1 hit
PF07678 A2M_comp, 1 hit
PF01835 A2M_N, 1 hit
PF07703 A2M_N_2, 1 hit
PF07677 A2M_recep, 1 hit
PF07648 Kazal_2, 1 hit
PF12248 Methyltransf_FA, 1 hit
PF10569 Thiol-ester_cl, 1 hit
SMARTiView protein in SMART
SM01360 A2M, 1 hit
SM01359 A2M_N_2, 1 hit
SM01361 A2M_recep, 1 hit
SM00280 KAZAL, 1 hit
SUPFAMiSSF100895 SSF100895, 1 hit
SSF48239 SSF48239, 1 hit
SSF49410 SSF49410, 1 hit
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS00477 ALPHA_2_MACROGLOBULIN, 1 hit
PS51465 KAZAL_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZJ3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGALLWPLL PLLLLLLSAR DGVRAAQPQA PGYLIAAPSV FRAGVEEVIS
60 70 80 90 100
VTIFNSPREV TVQAQLVAQG EPVVQSQGAI LDKGTIKLKV PTGLRGQALL
110 120 130 140 150
KVWGRGWQAE EGPLFHNQTS VTVDGRGASV FIQTDKPVYR PQHRVLISIF
160 170 180 190 200
TVSPNLRPVN EKLEAYILDP RGSRMIEWRH LKPFCCGITN MSFPLSDQPV
210 220 230 240 250
LGEWFIFVEM QGHAYNKSFE VQKYVLPKFE LLIDPPRYIQ DLDACETGTV
260 270 280 290 300
RARYTFGKPV AGALMINMTV NGVGYYSHEV GRPVLRTTKI LGSRDFDICV
310 320 330 340 350
RDMIPADVPE HFRGRVSIWA MVTSVDGSQQ VAFDDSTPVQ RQLVDIRYSK
360 370 380 390 400
DTRKQFKPGL AYVGKVELSY PDGSPAEGVT VQIKAELTPK DNIYTSEVVS
410 420 430 440 450
QRGLVGFEIP SIPTSAQHVW LETKVMALNG KPVGAQYLPS YLSLGSWYSP
460 470 480 490 500
SQCYLQLQPP SHPLQVGEEA YFSVKSTCPC NFTLYYEVAA RGNIVLSGQQ
510 520 530 540 550
PAHTTQQRSK RAAPALEKPI RLTHLSETEP PPAPEAEVDV CVTSLHLAVT
560 570 580 590 600
PSMVPLGRLL VFYVRENGEG VADSLQFAVE TFFENQVSVT YSANETQPGE
610 620 630 640 650
VVDLRIRAAR GSCVCVAAVD KSVYLLRSGF RLTPAQVFQE LEDYDVSDSF
660 670 680 690 700
GVSREDGPFW WAGLTAQRRR RSSVFPWPWG ITKDSGFAFT ETGLVVMTDR
710 720 730 740 750
VSLNHRQDGG LYTDEAVPAF QPHTGSLVAV APSRHPPRTE KRKRTFFPET
760 770 780 790 800
WIWHCLNISD PSGEGTLSVK VPDSITSWVG EAVALSTSQG LGIAEPSLLK
810 820 830 840 850
TFKPFFVDFM LPALIIRGEQ VKIPLSVYNY MGTCAEVYMK LSVPKGIQFV
860 870 880 890 900
GHPGKRHVTK KMCVAPGEAE PIWVVLSFSD LGLNNITAKA LAYGDTNCCR
910 920 930 940 950
DGRSSKHPEE NHADRRVPIG VDHVRRSVMV EAEGVPRAYT YSAFFCPSER
960 970 980 990 1000
VHISTPNKYE FQYVQRPLRL TRFDVAVRAH NDARVALSSG PQDTAGMIEI
1010 1020 1030 1040 1050
VLGGHQNTRS WISTSKMGEP VASAHTAKIL SWDEFRTFWI SWRGGLIQVG
1060 1070 1080 1090 1100
HGPEPSNESV IVAWTLPRPP EVQFIGFSTG WGSMGEFRIW RKMEVDESYS
1110 1120 1130 1140 1150
EAFTLGVPHG AIPGSERATA SIIGDVMGPT LNHLNNLLRL PFGCGEQNMI
1160 1170 1180 1190 1200
HFAPNVFVLK YLQKTQQLSP EVERETTDYL VQGYQRQLTY KRQDGSYSAF
1210 1220 1230 1240 1250
GERDASGSMW LTAFVLKSFA QARSFIFVDP RELAAAKSWI IQQQQADGSF
1260 1270 1280 1290 1300
LAVGRVLNKD IQGGIHGTVP LTAYVVVALL ETGTASEEER GSTDKARHFL
1310 1320 1330 1340 1350
ESAAPLAMDP YSCALTTYAL TLLRSPAAPE ALRKLRSLAI MRDGVTHWSL
1360 1370 1380 1390 1400
SNSWDVDKGT FLSFSDRVSQ SVVSAEVEMT AYALLTYTLL GDVAAALPVV
1410 1420 1430 1440 1450
KWLSQQRNAL GGFSSTQDTC VALQALAEYA ILSYAGGINL TVSLASTNLD
1460 1470 1480 1490 1500
YQETFELHRT NQKVLQTAAI PSLPTGLFVS AKGDGCCLMQ IDVTYNVPDP
1510 1520 1530 1540 1550
VAKPAFQLLV SLQEPEAQGR PPPMPASAAE GSRGDWPPAD DDDPAADQHH
1560 1570 1580 1590 1600
QEYKVMLEVC TRWLHAGSSN MAVLEVPLLS GFRADIESLE QLLLDKHMGM
1610 1620 1630 1640 1650
KRYEVAGRRV LFYFDEIPSR CLTCVRFRAL RECVVGRTSA LPVSVYDYYE
1660 1670 1680 1690 1700
PAFEATRFYN VSTHSPLARE LCAGPACNEV ERAPARGPGW FPGESGPAVA
1710 1720 1730 1740 1750
PEEGAAIARC GCDHDCGAQG NPVCGSDGVV YASACRLREA ACRQAAPLEP
1760 1770 1780 1790 1800
APPSCCALEQ RLPASSSSTY GDDLASVAPG PLQQDVKLNG AGLEVEDSDP
1810 1820 1830 1840 1850
EPEGEAEDRV TAGPRPPVSS GNLESSTQSA SPFHRWGQTP APQRHSGRVV
1860 1870 1880
GAHRPGLLSP VFVYSPAFQS GGEEGLWMSN TCTLR
Length:1,885
Mass (Da):206,702
Last modified:September 22, 2009 - v2
Checksum:i5AA522DE6155C288
GO
Isoform 2 (identifier: Q8IZJ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1809-1815: RVTAGPR → SQSGFSS
     1816-1885: Missing.

Note: No experimental confirmation available.
Show »
Length:1,815
Mass (Da):199,171
Checksum:iE8F8D6DA1DECDB6D
GO

Sequence cautioni

The sequence BAC11400 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1588S → G in BAC11400 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038655251R → W. Corresponds to variant dbSNP:rs10426545Ensembl.1
Natural variantiVAR_038656265M → T. Corresponds to variant dbSNP:rs4808551Ensembl.1
Natural variantiVAR_038657294R → Q2 PublicationsCorresponds to variant dbSNP:rs3745340Ensembl.1
Natural variantiVAR_038658539D → E. Corresponds to variant dbSNP:rs3745335Ensembl.1
Natural variantiVAR_038659546H → R. Corresponds to variant dbSNP:rs1824152Ensembl.1
Natural variantiVAR_038660736P → H. Corresponds to variant dbSNP:rs9305083Ensembl.1
Natural variantiVAR_0386611156V → I. Corresponds to variant dbSNP:rs2250918Ensembl.1
Natural variantiVAR_0386621268T → I2 PublicationsCorresponds to variant dbSNP:rs706761Ensembl.1
Natural variantiVAR_0779331404S → P in ASGD8. 1 Publication1
Natural variantiVAR_0386631843Q → R. Corresponds to variant dbSNP:rs1054533Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0311371809 – 1815RVTAGPR → SQSGFSS in isoform 2. 1 Publication7
Alternative sequenceiVSP_0311381816 – 1885Missing in isoform 2. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY101765 mRNA Translation: AAM50084.1
AC008737 Genomic DNA No translation available.
AC020908 Genomic DNA No translation available.
AB033109 mRNA Translation: BAA86597.1
AK075099 mRNA Translation: BAC11400.1 Different initiation.
UniGeneiHs.631644

Genome annotation databases

EnsembliENST00000291440; ENSP00000291440; ENSG00000160111
ENST00000443236; ENSP00000402505; ENSG00000160111
UCSCiuc002nfb.4 human [Q8IZJ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCPMD8_HUMAN
AccessioniPrimary (citable) accession number: Q8IZJ3
Secondary accession number(s): Q8NC09, Q9ULD7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: September 22, 2009
Last modified: May 23, 2018
This is version 116 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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