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Protein

Aggrecan core protein

Gene

ACAN

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

Functioni

This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi2381Calcium 1By similarity1
Metal bindingi2385Calcium 1By similarity1
Metal bindingi2385Calcium 3By similarity1
Metal bindingi2405Calcium 2By similarity1
Metal bindingi2407Calcium 2By similarity1
Metal bindingi2408Calcium 1By similarity1
Metal bindingi2414Calcium 1; via carbonyl oxygenBy similarity1
Metal bindingi2414Calcium 2By similarity1
Metal bindingi2415Calcium 1By similarity1
Metal bindingi2415Calcium 3By similarity1
Metal bindingi2428Calcium 2By similarity1
Metal bindingi2429Calcium 2By similarity1
Metal bindingi2429Calcium 2; via carbonyl oxygenBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandCalcium, Lectin, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-2022854 Keratan sulfate biosynthesis
R-HSA-2022857 Keratan sulfate degradation
R-HSA-3000178 ECM proteoglycans
R-HSA-3656225 Defective CHST6 causes MCDC1
R-HSA-3656243 Defective ST3GAL3 causes MCT12 and EIEE15
R-HSA-3656244 Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
SIGNORiP16112

Names & Taxonomyi

Protein namesi
Recommended name:
Aggrecan core protein
Alternative name(s):
Cartilage-specific proteoglycan core protein
Short name:
CSPCP
Chondroitin sulfate proteoglycan core protein 1
Short name:
Chondroitin sulfate proteoglycan 1
Cleaved into the following chain:
Gene namesi
Name:ACAN
Synonyms:AGC1, CSPG1, MSK16
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

EuPathDBiHostDB:ENSG00000157766.15
HGNCiHGNC:319 ACAN
MIMi155760 gene
neXtProtiNX_P16112

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

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Spondyloepiphyseal dysplasia type Kimberley (SEDK)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy.
See also OMIM:608361
Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.
See also OMIM:612813
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0630532381D → N in SEMDAG; creates a functional N-glycosylation site; does not adversely affect protein trafficking and secretion. 1 Publication1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue.
See also OMIM:165800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0637652418V → M in SSOAOD. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi176
MalaCardsiACAN
MIMi165800 phenotype
608361 phenotype
612813 phenotype
OpenTargetsiENSG00000157766
Orphaneti251262 Familial osteochondritis dissecans
171866 Spondyloepimetaphyseal dysplasia, aggrecan type
93283 Spondyloepiphyseal dysplasia, Kimberley type
PharmGKBiPA24616

Chemistry databases

DrugBankiDB02255 GM6001

Polymorphism and mutation databases

DMDMi129886

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 161 PublicationAdd BLAST16
ChainiPRO_000001750517 – 2530Aggrecan core proteinAdd BLAST2514
ChainiPRO_0000017506393 – 2530Aggrecan core protein 2Add BLAST2138

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi51 ↔ 133By similarity
Glycosylationi126N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi175 ↔ 246By similarity
Disulfide bondi199 ↔ 220By similarity
Glycosylationi239N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi273 ↔ 348By similarity
Disulfide bondi297 ↔ 318By similarity
Glycosylationi333N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi371O-linked (Xyl...) (keratan sulfate) threonine1 Publication1
Glycosylationi376O-linked (Xyl...) (keratan sulfate) threonine1 Publication1
Glycosylationi387N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi434N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi500 ↔ 571By similarity
Disulfide bondi524 ↔ 545By similarity
Disulfide bondi598 ↔ 673By similarity
Glycosylationi602N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi622 ↔ 643By similarity
Glycosylationi658N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi738N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2013N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2283 ↔ 2293By similarity
Disulfide bondi2288 ↔ 2302By similarity
Disulfide bondi2304 ↔ 2313By similarity
Disulfide bondi2320 ↔ 2331By similarity
Disulfide bondi2348 ↔ 2440By similarity
Disulfide bondi2416 ↔ 2432By similarity
Disulfide bondi2447 ↔ 2490By similarity
Disulfide bondi2476 ↔ 2503By similarity

Post-translational modificationi

Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linked oligosaccharides. The release of aggrecan fragments from articular cartilage into the synovial fluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei392 – 393Cleavage; by aggrecanase2

Keywords - PTMi

Disulfide bond, Glycoprotein, Proteoglycan

Proteomic databases

PeptideAtlasiP16112
PRIDEiP16112

PTM databases

iPTMnetiP16112
PhosphoSitePlusiP16112

Miscellaneous databases

PMAP-CutDBiP16112

Expressioni

Tissue specificityi

Restricted to cartilages.1 Publication

Developmental stagei

Expression was detected in chondrocytes throughout the developing skeleton.

Gene expression databases

CleanExiHS_ACAN

Organism-specific databases

HPAiHPA038241
HPA038242

Interactioni

Subunit structurei

Interacts with FBLN1 (By similarity). Interacts with COMP.By similarity1 Publication

Protein-protein interaction databases

IntActiP16112, 1 interactor

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4MD4X-ray1.95C89-103[»]
ProteinModelPortaliP16112
SMRiP16112
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 147Ig-like V-typeAdd BLAST114
Domaini153 – 248Link 1PROSITE-ProRule annotationAdd BLAST96
Domaini254 – 350Link 2PROSITE-ProRule annotationAdd BLAST97
Domaini478 – 573Link 3PROSITE-ProRule annotationAdd BLAST96
Domaini579 – 675Link 4PROSITE-ProRule annotationAdd BLAST97
Repeati773 – 7781-16
Repeati779 – 7841-26
Repeati785 – 7901-36
Repeati791 – 7961-46
Repeati797 – 8021-56
Repeati803 – 8081-66
Repeati809 – 8141-7; approximate6
Repeati815 – 8201-8; approximate6
Repeati821 – 8261-96
Repeati827 – 8321-10; approximate6
Repeati833 – 8381-116
Repeati839 – 8441-126
Repeati942 – 9602-1Add BLAST19
Repeati961 – 9792-2Add BLAST19
Repeati980 – 9982-3Add BLAST19
Repeati999 – 10172-4Add BLAST19
Repeati1018 – 10362-5Add BLAST19
Repeati1037 – 10552-6Add BLAST19
Repeati1056 – 10742-7Add BLAST19
Repeati1075 – 10932-8Add BLAST19
Repeati1094 – 11122-9Add BLAST19
Repeati1113 – 11312-10Add BLAST19
Repeati1132 – 11502-11Add BLAST19
Repeati1151 – 11692-12Add BLAST19
Repeati1170 – 11882-13Add BLAST19
Repeati1189 – 12072-14Add BLAST19
Repeati1208 – 12262-15Add BLAST19
Repeati1227 – 12452-16Add BLAST19
Repeati1246 – 12642-17Add BLAST19
Repeati1265 – 12832-18Add BLAST19
Repeati1284 – 13022-19Add BLAST19
Repeati1303 – 13212-20Add BLAST19
Repeati1322 – 13402-21Add BLAST19
Repeati1341 – 13592-22Add BLAST19
Repeati1360 – 13782-23Add BLAST19
Repeati1379 – 13972-24Add BLAST19
Repeati1398 – 14162-25Add BLAST19
Repeati1417 – 14352-26Add BLAST19
Repeati1436 – 14542-27Add BLAST19
Repeati1455 – 14732-28Add BLAST19
Repeati1475 – 14932-29Add BLAST19
Repeati1494 – 15122-30Add BLAST19
Repeati1513 – 15312-31Add BLAST19
Repeati1533 – 15512-32Add BLAST19
Repeati1553 – 15722-33; approximateAdd BLAST20
Repeati1574 – 15922-34Add BLAST19
Repeati1594 – 16122-35Add BLAST19
Domaini2279 – 2314EGF-likePROSITE-ProRule annotationAdd BLAST36
Domaini2327 – 2441C-type lectinPROSITE-ProRule annotationAdd BLAST115
Domaini2445 – 2505SushiPROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni48 – 141G1-AAdd BLAST94
Regioni152 – 247G1-BAdd BLAST96
Regioni253 – 349G1-B'Add BLAST97
Regioni477 – 571G2-BAdd BLAST95
Regioni578 – 673G2-B'Add BLAST96
Regioni677 – 849KSAdd BLAST173
Regioni773 – 84412 X 6 AA approximate tandem repeats of E-[GVE]-P-[SFY]-[APT]-[TSP]Add BLAST72
Regioni852 – 1612CS-1Add BLAST761
Regioni942 – 161235 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]-[SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]-[GERK]-[LV]-P-S-GAdd BLAST671
Regioni1613 – 2277CS-2Add BLAST665
Regioni2278 – 2530G3Add BLAST253

Domaini

Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B' motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.

Sequence similaritiesi

Keywords - Domaini

EGF-like domain, Immunoglobulin domain, Repeat, Signal, Sushi

Phylogenomic databases

GeneTreeiENSGT00760000119025
HOGENOMiHOG000168421
HOVERGENiHBG007982
InParanoidiP16112
KOiK06792
OMAiDTNETYD
PhylomeDBiP16112

Family and domain databases

CDDicd00033 CCP, 1 hit
cd03588 CLECT_CSPGs, 1 hit
Gene3Di2.60.40.10, 1 hit
3.10.100.10, 5 hits
InterProiView protein in InterPro
IPR001304 C-type_lectin-like
IPR016186 C-type_lectin-like/link_sf
IPR018378 C-type_lectin_CS
IPR033987 CSPG_CTLD
IPR016187 CTDL_fold
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003599 Ig_sub
IPR013106 Ig_V-set
IPR000538 Link_dom
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00059 Lectin_C, 1 hit
PF00084 Sushi, 1 hit
PF07686 V-set, 1 hit
PF00193 Xlink, 4 hits
PRINTSiPR01265 LINKMODULE
SMARTiView protein in SMART
SM00032 CCP, 1 hit
SM00034 CLECT, 1 hit
SM00181 EGF, 1 hit
SM00409 IG, 1 hit
SM00406 IGv, 1 hit
SM00445 LINK, 4 hits
SUPFAMiSSF48726 SSF48726, 1 hit
SSF56436 SSF56436, 5 hits
SSF57535 SSF57535, 1 hit
PROSITEiView protein in PROSITE
PS00615 C_TYPE_LECTIN_1, 1 hit
PS50041 C_TYPE_LECTIN_2, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 1 hit
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 1 hit
PS01241 LINK_1, 4 hits
PS50963 LINK_2, 4 hits
PS50923 SUSHI, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P16112-1) [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
MTTLLWVFVT LRVITAAVTV ETSDHDNSLS VSIPQPSPLR VLLGTSLTIP
60 70 80 90 100
CYFIDPMHPV TTAPSTAPLA PRIKWSRVSK EKEVVLLVAT EGRVRVNSAY
110 120 130 140 150
QDKVSLPNYP AIPSDATLEV QSLRSNDSGV YRCEVMHGIE DSEATLEVVV
160 170 180 190 200
KGIVFHYRAI STRYTLDFDR AQRACLQNSA IIATPEQLQA AYEDGFHQCD
210 220 230 240 250
AGWLADQTVR YPIHTPREGC YGDKDEFPGV RTYGIRDTNE TYDVYCFAEE
260 270 280 290 300
MEGEVFYATS PEKFTFQEAA NECRRLGARL ATTGQLYLAW QAGMDMCSAG
310 320 330 340 350
WLADRSVRYP ISKARPNCGG NLLGVRTVYV HANQTGYPDP SSRYDAICYT
360 370 380 390 400
GEDFVDIPEN FFGVGGEEDI TVQTVTWPDM ELPLPRNITE GEARGSVILT
410 420 430 440 450
VKPIFEVSPS PLEPEEPFTF APEIGATAFA EVENETGEAT RPWGFPTPGL
460 470 480 490 500
GPATAFTSED LVVQVTAVPG QPHLPGGVVF HYRPGPTRYS LTFEEAQQAC
510 520 530 540 550
LRTGAVIASP EQLQAAYEAG YEQCDAGWLR DQTVRYPIVS PRTPCVGDKD
560 570 580 590 600
SSPGVRTYGV RPSTETYDVY CFVDRLEGEV FFATRLEQFT FQEALEFCES
610 620 630 640 650
HNATLATTGQ LYAAWSRGLD KCYAGWLADG SLRYPIVTPR PACGGDKPGV
660 670 680 690 700
RTVYLYPNQT GLPDPLSRHH AFCFRGISAV PSPGEEEGGT PTSPSGVEEW
710 720 730 740 750
IVTQVVPGVA AVPVEEETTA VPSGETTAIL EFTTEPENQT EWEPAYTPVG
760 770 780 790 800
TSPLPGILPT WPPTGAATEE STEGPSATEV PSASEEPSPS EVPFPSEEPS
810 820 830 840 850
PSEEPFPSVR PFPSVELFPS EEPFPSKEPS PSEEPSASEE PYTPSPPVPS
860 870 880 890 900
WTELPSSGEE SGAPDVSGDF TGSGDVSGHL DFSGQLSGDR ASGLPSGDLD
910 920 930 940 950
SSGLTSTVGS GLPVESGLPS GDEERIEWPS TPTVGELPSG AEILEGSASG
960 970 980 990 1000
VGDLSGLPSG EVLETSASGV GDLSGLPSGE VLETTAPGVE DISGLPSGEV
1010 1020 1030 1040 1050
LETTAPGVED ISGLPSGEVL ETTAPGVEDI SGLPSGEVLE TTAPGVEDIS
1060 1070 1080 1090 1100
GLPSGEVLET TAPGVEDISG LPSGEVLETT APGVEDISGL PSGEVLETAA
1110 1120 1130 1140 1150
PGVEDISGLP SGEVLETAAP GVEDISGLPS GEVLETAAPG VEDISGLPSG
1160 1170 1180 1190 1200
EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV LETAAPGVED
1210 1220 1230 1240 1250
ISGLPSGEVL ETAAPGVEDI SGLPSGEVLE TAAPGVEDIS GLPSGEVLET
1260 1270 1280 1290 1300
AAPGVEDISG LPSGEVLETA APGVEDISGL PSGEVLETAA PGVEDISGLP
1310 1320 1330 1340 1350
SGEVLETAAP GVEDISGLPS GEVLETAAPG VEDISGLPSG EVLETAAPGV
1360 1370 1380 1390 1400
EDISGLPSGE VLETAAPGVE DISGLPSGEV LETAAPGVED ISGLPSGEVL
1410 1420 1430 1440 1450
ETTAPGVEEI SGLPSGEVLE TTAPGVDEIS GLPSGEVLET TAPGVEEISG
1460 1470 1480 1490 1500
LPSGEVLETS TSAVGDLSGL PSGGEVLEIS VSGVEDISGL PSGEVVETSA
1510 1520 1530 1540 1550
SGIEDVSELP SGEGLETSAS GVEDLSRLPS GEEVLEISAS GFGDLSGLPS
1560 1570 1580 1590 1600
GGEGLETSAS EVGTDLSGLP SGREGLETSA SGAEDLSGLP SGKEDLVGSA
1610 1620 1630 1640 1650
SGDLDLGKLP SGTLGSGQAP ETSGLPSGFS GEYSGVDLGS GPPSGLPDFS
1660 1670 1680 1690 1700
GLPSGFPTVS LVDSTLVEVV TASTASELEG RGTIGISGAG EISGLPSSEL
1710 1720 1730 1740 1750
DISGRASGLP SGTELSGQAS GSPDVSGEIP GLFGVSGQPS GFPDTSGETS
1760 1770 1780 1790 1800
GVTELSGLSS GQPGISGEAS GVLYGTSQPF GITDLSGETS GVPDLSGQPS
1810 1820 1830 1840 1850
GLPGFSGATS GVPDLVSGTT SGSGESSGIT FVDTSLVEVA PTTFKEEEGL
1860 1870 1880 1890 1900
GSVELSGLPS GEADLSGKSG MVDVSGQFSG TVDSSGFTSQ TPEFSGLPSG
1910 1920 1930 1940 1950
IAEVSGESSR AEIGSSLPSG AYYGSGTPSS FPTVSLVDRT LVESVTQAPT
1960 1970 1980 1990 2000
AQEAGEGPSG ILELSGAHSG APDMSGEHSG FLDLSGLQSG LIEPSGEPPG
2010 2020 2030 2040 2050
TPYFSGDFAS TTNVSGESSV AMGTSGEASG LPEVTLITSE FVEGVTEPTI
2060 2070 2080 2090 2100
SQELGQRPPV THTPQLFESS GKVSTAGDIS GATPVLPGSG VEVSSVPESS
2110 2120 2130 2140 2150
SETSAYPEAG FGASAAPEAS REDSGSPDLS ETTSAFHEAN LERSSGLGVS
2160 2170 2180 2190 2200
GSTLTFQEGE ASAAPEVSGE STTTSDVGTE APGLPSATPT ASGDRTEISG
2210 2220 2230 2240 2250
DLSGHTSQLG VVISTSIPES EWTQQTQRPA ETHLEIESSS LLYSGEETHT
2260 2270 2280 2290 2300
VETATSPTDA SIPASPEWKR ESESTAAAPA RSCAEEPCGA GTCKETEGHV
2310 2320 2330 2340 2350
ICLCPPGYTG EHCNIDQEVC EEGWNKYQGH CYRHFPDRET WVDAERRCRE
2360 2370 2380 2390 2400
QQSHLSSIVT PEEQEFVNNN AQDYQWIGLN DRTIEGDFRW SDGHPMQFEN
2410 2420 2430 2440 2450
WRPNQPDNFF AAGEDCVVMI WHEKGEWNDV PCNYHLPFTC KKGTVACGEP
2460 2470 2480 2490 2500
PVVEHARTFG QKKDRYEINS LVRYQCTEGF VQRHMPTIRC QPSGHWEEPQ
2510 2520 2530
ITCTDPTTYK RRLQKRSSRH PRRSRPSTAH
Length:2,530
Mass (Da):261,329
Last modified:March 28, 2018 - v3
Checksum:i3C809F6DE829956B
GO
Isoform 2 (identifier: P16112-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2278-2315: Missing.

Show »
Length:2,492
Mass (Da):257,441
Checksum:i8473F19E0104B24D
GO
Isoform 3 (identifier: P16112-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2278-2315: Missing.
     2445-2506: VACGEPPVVEHARTFGQKKDRYEINSLVRYQCTEGFVQRHMPTIRCQPSGHWEEPQITCTDP → A

Show »
Length:2,431
Mass (Da):250,372
Checksum:iE9A15851313D2B30
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti285 – 286QL → HV in AAA62824 (PubMed:1985970).Curated2
Sequence conflicti501 – 502LR → PG in AAA62824 (PubMed:1985970).Curated2
Sequence conflicti605Missing in AAA62824 (PubMed:1985970).Curated1
Sequence conflicti767A → E in AAA62824 (PubMed:1985970).Curated1
Sequence conflicti848V → E in AAA62824 (PubMed:1985970).Curated1
Sequence conflicti999 – 1017Missing in AAI50625 (PubMed:15489334).CuratedAdd BLAST19
Sequence conflicti1075 – 1188Missing in AAA62824 (PubMed:1985970).CuratedAdd BLAST114
Sequence conflicti1548L → V in AAA62824 (PubMed:1985970).Curated1
Sequence conflicti2043E → A in CAA35463 (PubMed:8611178).Curated1
Sequence conflicti2185P → A in AAA35726 (PubMed:2789216).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056152102D → E. Corresponds to variant dbSNP:rs16942318Ensembl.1
Natural variantiVAR_056153275R → Q. Corresponds to variant dbSNP:rs34949187Ensembl.1
Natural variantiVAR_080159864P → L1 PublicationCorresponds to variant dbSNP:rs3743398Ensembl.1
Natural variantiVAR_080160913P → T1 PublicationCorresponds to variant dbSNP:rs35430524Ensembl.1
Natural variantiVAR_080161930S → I1 PublicationCorresponds to variant dbSNP:rs938608Ensembl.1
Natural variantiVAR_080162939S → T1 PublicationCorresponds to variant dbSNP:rs938609Ensembl.1
Natural variantiVAR_0801631080T → A1 PublicationCorresponds to variant dbSNP:rs373544100Ensembl.1
Natural variantiVAR_0801641403T → A1 PublicationCorresponds to variant dbSNP:rs12899191Ensembl.1
Natural variantiVAR_0801651508E → A1 PublicationCorresponds to variant dbSNP:rs2882676Ensembl.1
Natural variantiVAR_0801661765I → V2 PublicationsCorresponds to variant dbSNP:rs4932439Ensembl.1
Natural variantiVAR_0561542058P → L. Corresponds to variant dbSNP:rs35061438Ensembl.1
Natural variantiVAR_0801672079I → V3 PublicationsCorresponds to variant dbSNP:rs1042630Ensembl.1
Natural variantiVAR_0561552120S → R. Corresponds to variant dbSNP:rs34153007Ensembl.1
Natural variantiVAR_0801682373D → E1 PublicationCorresponds to variant dbSNP:rs3817428Ensembl.1
Natural variantiVAR_0630532381D → N in SEMDAG; creates a functional N-glycosylation site; does not adversely affect protein trafficking and secretion. 1 Publication1
Natural variantiVAR_0637652418V → M in SSOAOD. 1 Publication1
Natural variantiVAR_0801692500Q → R2 PublicationsCorresponds to variant dbSNP:rs1126823Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0030742278 – 2315Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST38
Alternative sequenceiVSP_0030752445 – 2506VACGE…TCTDP → A in isoform 3. 1 PublicationAdd BLAST62

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55172 mRNA Translation: AAA62824.1
AC103982 Genomic DNA No translation available.
BC150624 mRNA Translation: AAI50625.1
X80278 mRNA No translation available.
S74659 Genomic DNA Translation: AAC60643.2
X17406 mRNA Translation: CAA35463.1
J05062 mRNA Translation: AAA35726.1
PIRiA39086
RefSeqiNP_001126.3, NM_001135.3
NP_037359.3, NM_013227.3
XP_011519616.1, XM_011521314.1
UniGeneiHs.2159
Hs.616395

Genome annotation databases

EnsembliENST00000352105; ENSP00000341615; ENSG00000157766 [P16112-3]
ENST00000439576; ENSP00000387356; ENSG00000157766 [P16112-1]
ENST00000559004; ENSP00000453499; ENSG00000157766 [P16112-2]
ENST00000561243; ENSP00000453342; ENSG00000157766 [P16112-1]
GeneIDi176
KEGGihsa:176

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPGCA_HUMAN
AccessioniPrimary (citable) accession number: P16112
Secondary accession number(s): B9EK55
, E7ENV9, E7EX88, H0YM81, Q13650, Q9UCD3, Q9UCP4, Q9UCP5, Q9UDE0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: March 28, 2018
Last modified: April 25, 2018
This is version 197 of the entry and version 3 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome
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