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P49747

- COMP_HUMAN

UniProt

P49747 - COMP_HUMAN

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Protein

Cartilage oligomeric matrix protein

Gene

COMP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity).By similarity

Cofactori

Binds 11-14 calcium ions per subunit.

GO - Molecular functioni

  1. calcium ion binding Source: UniProtKB
  2. collagen binding Source: UniProtKB
  3. extracellular matrix structural constituent Source: ProtInc
  4. heparan sulfate proteoglycan binding Source: UniProtKB
  5. heparin binding Source: UniProtKB
  6. protease binding Source: BHF-UCL

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
  2. cell adhesion Source: UniProtKB-KW
  3. extracellular matrix organization Source: Reactome
  4. growth plate cartilage development Source: Ensembl
  5. limb development Source: UniProtKB
  6. negative regulation of apoptotic process Source: UniProtKB
  7. organ morphogenesis Source: ProtInc
  8. skeletal system development Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Apoptosis, Cell adhesion

Keywords - Ligandi

Calcium, Heparin-binding

Enzyme and pathway databases

ReactomeiREACT_13552. Integrin cell surface interactions.
REACT_163906. ECM proteoglycans.

Names & Taxonomyi

Protein namesi
Recommended name:
Cartilage oligomeric matrix protein
Short name:
COMP
Alternative name(s):
Thrombospondin-5
Short name:
TSP5
Gene namesi
Name:COMP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:2227. COMP.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: Reactome
  2. extracellular space Source: BHF-UCL
  3. extracellular vesicular exosome Source: UniProtKB
  4. proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.8 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti167 – 1671G → E in EDM1. 1 Publication
VAR_066789
Natural varianti276 – 2761P → R in EDM1. 2 Publications
VAR_026239
Natural varianti298 – 2981S → L in EDM1; phenotypic features overlapping with mild PSACH. 1 Publication
VAR_066792
Natural varianti311 – 3111A → D in EDM1. 1 Publication
VAR_066793
Natural varianti317 – 3171D → G in EDM1; atypical form. 1 Publication
VAR_066794
Natural varianti326 – 3261D → G in EDM1. 1 Publication
VAR_066795
Natural varianti342 – 3421D → Y in EDM1; Fairbank type. 2 Publications
VAR_007617
Natural varianti348 – 3481C → F in EDM1. 1 Publication
VAR_066798
Natural varianti361 – 3611D → V in EDM1; Fairbank type.
VAR_007619
Natural varianti361 – 3611D → Y in EDM1; binds less calcium. 1 Publication
VAR_007620
Natural varianti367 – 3682Missing in EDM1. 1 Publication
VAR_007621
Natural varianti371 – 3711C → S in EDM1; Fairbank type. 2 Publications
VAR_007622
Natural varianti371 – 3711C → Y in EDM1. 1 Publication
VAR_066800
Natural varianti374 – 3741D → N in EDM1. 1 Publication
VAR_066801
Natural varianti376 – 3761D → N in EDM1. 1 Publication
VAR_066802
Natural varianti385 – 3851D → N in EDM1; atypical form. 1 Publication
VAR_066804
Natural varianti385 – 3851D → Y in EDM1; atypical form. 1 Publication
VAR_066805
Natural varianti385 – 3851Missing in EDM1. 1 Publication
VAR_066806
Natural varianti397 – 3971D → H in EDM1. 1 Publication
VAR_066808
Natural varianti404 – 4041G → R in EDM1. 1 Publication
VAR_066810
Natural varianti408 – 4081D → Y in EDM1. 1 Publication
VAR_007627
Natural varianti410 – 4101C → Y in EDM1; phenotype overlapping with mild PSACH. 1 Publication
VAR_066811
Natural varianti415 – 4151N → K in EDM1. 1 Publication
VAR_066812
Natural varianti420 – 4201D → A in EDM1. 1 Publication
VAR_026240
Natural varianti427 – 4271G → E in EDM1. 1 Publication
VAR_066813
Natural varianti430 – 4323CDS → LWC in EDM1. 1 Publication
VAR_066814
Natural varianti453 – 4531N → S in EDM1; Fairbank type. 1 Publication
Corresponds to variant rs28936668 [ dbSNP | Ensembl ].
VAR_007630
Natural varianti457 – 4571Missing in EDM1. 1 Publication
VAR_066817
Natural varianti473 – 4731D → DD in EDM1. 1 Publication
VAR_066818
Natural varianti501 – 5011G → D in EDM1. 1 Publication
VAR_066821
Natural varianti523 – 5231N → K in EDM1; Ribbing type. 2 Publications
VAR_007640
Natural varianti585 – 5851T → M in PSACH; mild form and EDM1. 2 Publications
VAR_007641
Natural varianti585 – 5851T → R in EDM1 and PSACH. 2 Publications
VAR_007642
Natural varianti718 – 7181R → P in EDM1. 1 Publication
VAR_066826
Natural varianti718 – 7181R → W in EDM1. 1 Publication
Corresponds to variant rs28936368 [ dbSNP | Ensembl ].
VAR_066827
Pseudoachondroplasia (PSACH) [MIM:177170]: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.9 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti234 – 2341P → S in PSACH. 1 Publication
VAR_066790
Natural varianti290 – 2901D → G in PSACH. 1 Publication
VAR_066791
Natural varianti290 – 2901D → N in PSACH; mild form.
VAR_007614
Natural varianti298 – 2981S → L in EDM1; phenotypic features overlapping with mild PSACH. 1 Publication
VAR_066792
Natural varianti299 – 2991G → R in PSACH. 1 Publication
VAR_007615
Natural varianti326 – 3261D → Y in PSACH. 1 Publication
VAR_066796
Natural varianti328 – 3281C → R in PSACH; mild form. 2 Publications
VAR_007616
Natural varianti341 – 3422Missing in PSACH. 1 Publication
VAR_066797
Natural varianti348 – 3481C → R in PSACH. 1 Publication
VAR_017102
Natural varianti349 – 3491D → V in PSACH; mild form.
VAR_007618
Natural varianti350 – 37223Missing in PSACH. 1 Publication
VAR_066799Add
BLAST
Natural varianti372 – 3721Missing in PSACH. 1 Publication
VAR_007623
Natural varianti374 – 3741Missing in PSACH; mild form.
VAR_007624
Natural varianti378 – 3781D → V in PSACH. 1 Publication
VAR_066803
Natural varianti387 – 3871C → G in PSACH; mild form.
VAR_007625
Natural varianti387 – 3871C → R in PSACH. 1 Publication
VAR_066807
Natural varianti391 – 3944PNSD → V in PSACH. 1 Publication
VAR_007626
Natural varianti402 – 4043GIG → VC in PSACH. 1 Publication
VAR_066809
Natural varianti410 – 4101C → Y in EDM1; phenotype overlapping with mild PSACH. 1 Publication
VAR_066811
Natural varianti440 – 4401G → E in PSACH; mild form.
VAR_007628
Natural varianti440 – 4401G → R in PSACH. 2 Publications
VAR_007629
Natural varianti446 – 4461D → N in PSACH. 1 Publication
VAR_066815
Natural varianti448 – 4481C → S in PSACH. 1 Publication
VAR_066816
Natural varianti459 – 4591Missing in PSACH; severe form. 2 Publications
VAR_007631
Natural varianti468 – 4681C → Y in PSACH; severe form. 2 Publications
VAR_007632
Natural varianti469 – 4691Missing in PSACH; severe form; MUT3 mutant; most common mutation; binds less calcium and causes misfolding of the protein; greatly reduced interaction with ACAN; reduced interaction with collagen. 1 Publication
VAR_007633
Natural varianti472 – 4721D → Y in PSACH; severe form. 2 Publications
VAR_007634
Natural varianti473 – 4731D → G in PSACH; severe form.
Corresponds to variant rs28936669 [ dbSNP | Ensembl ].
VAR_007635
Natural varianti473 – 4731D → H in PSACH. 1 Publication
VAR_066819
Natural varianti473 – 4731Missing in PSACH; severe form. 1 Publication
VAR_007636
Natural varianti475 – 4751D → N in PSACH. 1 Publication
VAR_066820
Natural varianti482 – 4821D → G in PSACH. 2 Publications
VAR_007637
Natural varianti507 – 5071D → G in PSACH. 1 Publication
VAR_066822
Natural varianti511 – 5111D → G in PSACH. 1 Publication
VAR_066823
Natural varianti513 – 5164Missing in PSACH; mild form. 1 Publication
VAR_007638
Natural varianti515 – 5151D → G in PSACH. 1 Publication
VAR_066824
Natural varianti518 – 5181D → N in PSACH; mild form.
VAR_007639
Natural varianti529 – 5291T → I in PSACH. 1 Publication
VAR_066825
Natural varianti585 – 5851T → M in PSACH; mild form and EDM1. 2 Publications
VAR_007641
Natural varianti585 – 5851T → R in EDM1 and PSACH. 2 Publications
VAR_007642
Natural varianti719 – 7191G → D in PSACH; severe. 1 Publication
VAR_017103
Natural varianti719 – 7191G → S in PSACH. 1 Publication
VAR_066828

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi132400. phenotype.
177170. phenotype.
Orphaneti93308. Multiple epiphyseal dysplasia type 1.
750. Pseudoachondroplasia.
PharmGKBiPA26744.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 757737Cartilage oligomeric matrix proteinPRO_0000035857Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi69 – 69Interchain1 Publication
Disulfide bondi72 – 72Interchain1 Publication
Disulfide bondi91 ↔ 102PROSITE-ProRule annotation
Disulfide bondi96 ↔ 111PROSITE-ProRule annotation
Disulfide bondi114 ↔ 125PROSITE-ProRule annotation
Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi131 ↔ 142PROSITE-ProRule annotation
Disulfide bondi136 ↔ 151PROSITE-ProRule annotation
Disulfide bondi154 ↔ 178PROSITE-ProRule annotation
Disulfide bondi184 ↔ 197PROSITE-ProRule annotation
Disulfide bondi191 ↔ 206PROSITE-ProRule annotation
Disulfide bondi209 ↔ 221PROSITE-ProRule annotation
Disulfide bondi229 ↔ 2431 PublicationPROSITE-ProRule annotation
Disulfide bondi237 ↔ 2531 PublicationPROSITE-ProRule annotation
Disulfide bondi255 ↔ 2661 PublicationPROSITE-ProRule annotation
Disulfide bondi282 ↔ 2871 PublicationPROSITE-ProRule annotation
Disulfide bondi292 ↔ 3121 PublicationPROSITE-ProRule annotation
Disulfide bondi328 ↔ 3481 PublicationPROSITE-ProRule annotation
Disulfide bondi351 ↔ 3711 PublicationPROSITE-ProRule annotation
Disulfide bondi387 ↔ 4071 PublicationPROSITE-ProRule annotation
Disulfide bondi410 ↔ 4301 PublicationPROSITE-ProRule annotation
Disulfide bondi448 ↔ 4681 PublicationPROSITE-ProRule annotation
Disulfide bondi484 ↔ 5041 PublicationPROSITE-ProRule annotation
Disulfide bondi520 ↔ 7411 PublicationPROSITE-ProRule annotation
Glycosylationi742 – 7421N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP49747.
PaxDbiP49747.
PRIDEiP49747.

PTM databases

PhosphoSiteiP49747.

Miscellaneous databases

PMAP-CutDBP49747.

Expressioni

Tissue specificityi

Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the main defect.1 Publication

Developmental stagei

Present during the earliest stages of limb maturation and is later found in regions where the joints develop.1 Publication

Gene expression databases

BgeeiP49747.
CleanExiHS_COMP.
ExpressionAtlasiP49747. baseline and differential.
GenevestigatoriP49747.

Interactioni

Subunit structurei

Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a more extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1 requires the presence of divalent cations (Ca2+, Mg2+ or Mn2+). The greatest amount of binding is seen in the presence of Mn2+. Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and chondroitin sulfate. EDTA dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4 and chondroitin sulfate. Interacts with collagen I, II and IX, and interaction with these collagens is dependent on the presence of zinc ions. Interacts with ADAMTS12. Interacts with ITGA7 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ACANP136082EBI-2531022,EBI-6259246From a different organism.
ADAMTS12P583973EBI-2531022,EBI-9028051

Protein-protein interaction databases

IntActiP49747. 4 interactions.
STRINGi9606.ENSP00000222271.

Structurei

Secondary structure

1
757
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi232 – 2343Combined sources
Beta strandi241 – 2455Combined sources
Beta strandi251 – 2555Combined sources
Beta strandi259 – 2657Combined sources
Beta strandi272 – 2743Combined sources
Helixi285 – 2873Combined sources
Beta strandi291 – 2955Combined sources
Beta strandi306 – 3083Combined sources
Helixi310 – 3123Combined sources
Turni314 – 3174Combined sources
Beta strandi319 – 3213Combined sources
Helixi323 – 3253Combined sources
Beta strandi327 – 3315Combined sources
Beta strandi342 – 3443Combined sources
Helixi346 – 3483Combined sources
Beta strandi364 – 3674Combined sources
Helixi369 – 3713Combined sources
Beta strandi378 – 3803Combined sources
Beta strandi401 – 4033Combined sources
Helixi405 – 4073Combined sources
Beta strandi424 – 4263Combined sources
Turni428 – 4303Combined sources
Helixi443 – 4453Combined sources
Beta strandi462 – 4643Combined sources
Turni466 – 4683Combined sources
Beta strandi470 – 4734Combined sources
Beta strandi475 – 4773Combined sources
Helixi479 – 4813Combined sources
Beta strandi495 – 5006Combined sources
Turni503 – 5064Combined sources
Beta strandi511 – 5133Combined sources
Helixi515 – 5173Combined sources
Beta strandi532 – 5409Combined sources
Beta strandi551 – 5533Combined sources
Turni555 – 5573Combined sources
Beta strandi560 – 5623Combined sources
Beta strandi567 – 58822Combined sources
Beta strandi596 – 60510Combined sources
Beta strandi608 – 61710Combined sources
Beta strandi625 – 6273Combined sources
Beta strandi636 – 6416Combined sources
Helixi648 – 6558Combined sources
Beta strandi656 – 6583Combined sources
Turni661 – 6633Combined sources
Beta strandi664 – 6696Combined sources
Beta strandi681 – 6899Combined sources
Helixi690 – 6923Combined sources
Beta strandi694 – 7018Combined sources
Beta strandi704 – 7085Combined sources
Beta strandi716 – 72813Combined sources
Beta strandi732 – 74110Combined sources
Helixi748 – 7547Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3FBYX-ray3.15A/B/C225-757[»]
ProteinModelPortaliP49747.
SMRiP49747. Positions 29-72, 91-757.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP49747.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini87 – 12640EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini127 – 17953EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini180 – 22243EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini225 – 26743EGF-like 4PROSITE-ProRule annotationAdd
BLAST
Repeati268 – 30033TSP type-3 1Add
BLAST
Repeati301 – 33636TSP type-3 2Add
BLAST
Repeati337 – 35923TSP type-3 3Add
BLAST
Repeati360 – 39536TSP type-3 4Add
BLAST
Repeati396 – 41823TSP type-3 5Add
BLAST
Repeati419 – 45638TSP type-3 6Add
BLAST
Repeati457 – 49236TSP type-3 7Add
BLAST
Repeati493 – 52836TSP type-3 8Add
BLAST
Domaini532 – 746215TSP C-terminalPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni22 – 8665COMP N-terminalAdd
BLAST
Regioni527 – 757231Mediates cell survival and induction of the IAP family of survival proteinsAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi367 – 3693Cell attachment siteSequence Analysis

Domaini

The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP family of survival proteins and the antiapoptotic response.1 Publication
The TSP C-terminal domain mediates interaction with FN1 and ACAN.1 Publication
Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium ions.1 Publication

Sequence similaritiesi

Belongs to the thrombospondin family.Curated
Contains 4 EGF-like domains.PROSITE-ProRule annotation
Contains 1 TSP C-terminal (TSPC) domain.PROSITE-ProRule annotation
Contains 8 TSP type-3 repeats.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00550000074507.
HOGENOMiHOG000007542.
HOVERGENiHBG000636.
InParanoidiP49747.
KOiK04659.
OMAiPEDYETQ.
PhylomeDBiP49747.
TreeFamiTF324917.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
4.10.1080.10. 2 hits.
InterProiIPR028492. Comp.
IPR013320. ConA-like_dom.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR024665. Thbs/COMP_coiled-coil.
IPR003367. Thrombospondin_3-like_rpt.
IPR017897. Thrombospondin_3_rpt.
IPR008859. Thrombospondin_C.
IPR028974. TSP_type-3_rpt.
[Graphical view]
PANTHERiPTHR10199:SF81. PTHR10199:SF81. 1 hit.
PfamiPF11598. COMP. 1 hit.
PF07645. EGF_CA. 2 hits.
PF02412. TSP_3. 6 hits.
PF05735. TSP_C. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 2 hits.
SM00179. EGF_CA. 2 hits.
[Graphical view]
SUPFAMiSSF103647. SSF103647. 3 hits.
SSF49899. SSF49899. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS01186. EGF_2. 1 hit.
PS50026. EGF_3. 3 hits.
PS01187. EGF_CA. 2 hits.
PS51234. TSP3. 8 hits.
PS51236. TSP_CTER. 1 hit.
[Graphical view]

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. Align

Isoform 1 (identifier: P49747-1) [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
MVPDTACVLL LTLAALGASG QGQSPLGSDL GPQMLRELQE TNAALQDVRE
60 70 80 90 100
LLRQQVREIT FLKNTVMECD ACGMQQSVRT GLPSVRPLLH CAPGFCFPGV
110 120 130 140 150
ACIQTESGAR CGPCPAGFTG NGSHCTDVNE CNAHPCFPRV RCINTSPGFR
160 170 180 190 200
CEACPPGYSG PTHQGVGLAF AKANKQVCTD INECETGQHN CVPNSVCINT
210 220 230 240 250
RGSFQCGPCQ PGFVGDQASG CQRRAQRFCP DGSPSECHEH ADCVLERDGS
260 270 280 290 300
RSCVCAVGWA GNGILCGRDT DLDGFPDEKL RCPERQCRKD NCVTVPNSGQ
310 320 330 340 350
EDVDRDGIGD ACDPDADGDG VPNEKDNCPL VRNPDQRNTD EDKWGDACDN
360 370 380 390 400
CRSQKNDDQK DTDQDGRGDA CDDDIDGDRI RNQADNCPRV PNSDQKDSDG
410 420 430 440 450
DGIGDACDNC PQKSNPDQAD VDHDFVGDAC DSDQDQDGDG HQDSRDNCPT
460 470 480 490 500
VPNSAQEDSD HDGQGDACDD DDDNDGVPDS RDNCRLVPNP GQEDADRDGV
510 520 530 540 550
GDVCQDDFDA DKVVDKIDVC PENAEVTLTD FRAFQTVVLD PEGDAQIDPN
560 570 580 590 600
WVVLNQGREI VQTMNSDPGL AVGYTAFNGV DFEGTFHVNT VTDDDYAGFI
610 620 630 640 650
FGYQDSSSFY VVMWKQMEQT YWQANPFRAV AEPGIQLKAV KSSTGPGEQL
660 670 680 690 700
RNALWHTGDT ESQVRLLWKD PRNVGWKDKK SYRWFLQHRP QVGYIRVRFY
710 720 730 740 750
EGPELVADSN VVLDTTMRGG RLGVFCFSQE NIIWANLRYR CNDTIPEDYE

THQLRQA
Length:757
Mass (Da):82,860
Last modified:October 14, 2008 - v2
Checksum:iA0B73AADB39FBC7B
GO
Isoform 2 (identifier: P49747-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     129-181: Missing.

Note: No experimental confirmation available.

Show »
Length:704
Mass (Da):77,214
Checksum:i1126EE4088275D29
GO

Sequence cautioni

The sequence AAB86501.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti256 – 2561A → R in AAA57253. (PubMed:7713493)Curated
Sequence conflicti256 – 2561A → R in BAC53888. 1 PublicationCurated
Sequence conflicti340 – 3401D → Y in AAB35270. (PubMed:7670472)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501E → D.2 Publications
VAR_016254
Natural varianti51 – 511L → W.2 Publications
VAR_016255
Natural varianti109 – 1091A → G.2 Publications
VAR_016257
Natural varianti167 – 1671G → E in EDM1. 1 Publication
VAR_066789
Natural varianti224 – 2241R → G.2 Publications
VAR_016258
Natural varianti234 – 2341P → S in PSACH. 1 Publication
VAR_066790
Natural varianti276 – 2761P → R in EDM1. 2 Publications
VAR_026239
Natural varianti285 – 2851R → P.2 Publications
VAR_016261
Natural varianti290 – 2901D → G in PSACH. 1 Publication
VAR_066791
Natural varianti290 – 2901D → N in PSACH; mild form.
VAR_007614
Natural varianti298 – 2981S → L in EDM1; phenotypic features overlapping with mild PSACH. 1 Publication
VAR_066792
Natural varianti299 – 2991G → R in PSACH. 1 Publication
VAR_007615
Natural varianti311 – 3111A → D in EDM1. 1 Publication
VAR_066793
Natural varianti317 – 3171D → G in EDM1; atypical form. 1 Publication
VAR_066794
Natural varianti326 – 3261D → G in EDM1. 1 Publication
VAR_066795
Natural varianti326 – 3261D → Y in PSACH. 1 Publication
VAR_066796
Natural varianti328 – 3281C → R in PSACH; mild form. 2 Publications
VAR_007616
Natural varianti341 – 3422Missing in PSACH. 1 Publication
VAR_066797
Natural varianti342 – 3421D → Y in EDM1; Fairbank type. 2 Publications
VAR_007617
Natural varianti348 – 3481C → F in EDM1. 1 Publication
VAR_066798
Natural varianti348 – 3481C → R in PSACH. 1 Publication
VAR_017102
Natural varianti349 – 3491D → V in PSACH; mild form.
VAR_007618
Natural varianti350 – 37223Missing in PSACH. 1 Publication
VAR_066799Add
BLAST
Natural varianti361 – 3611D → V in EDM1; Fairbank type.
VAR_007619
Natural varianti361 – 3611D → Y in EDM1; binds less calcium. 1 Publication
VAR_007620
Natural varianti367 – 3682Missing in EDM1. 1 Publication
VAR_007621
Natural varianti371 – 3711C → S in EDM1; Fairbank type. 2 Publications
VAR_007622
Natural varianti371 – 3711C → Y in EDM1. 1 Publication
VAR_066800
Natural varianti372 – 3721Missing in PSACH. 1 Publication
VAR_007623
Natural varianti374 – 3741D → N in EDM1. 1 Publication
VAR_066801
Natural varianti374 – 3741Missing in PSACH; mild form.
VAR_007624
Natural varianti376 – 3761D → N in EDM1. 1 Publication
VAR_066802
Natural varianti378 – 3781D → V in PSACH. 1 Publication
VAR_066803
Natural varianti381 – 3811R → C.
Corresponds to variant rs3179763 [ dbSNP | Ensembl ].
VAR_046796
Natural varianti385 – 3851D → N in EDM1; atypical form. 1 Publication
VAR_066804
Natural varianti385 – 3851D → Y in EDM1; atypical form. 1 Publication
VAR_066805
Natural varianti385 – 3851Missing in EDM1. 1 Publication
VAR_066806
Natural varianti387 – 3871C → G in PSACH; mild form.
VAR_007625
Natural varianti387 – 3871C → R in PSACH. 1 Publication
VAR_066807
Natural varianti391 – 3944PNSD → V in PSACH. 1 Publication
VAR_007626
Natural varianti397 – 3971D → H in EDM1. 1 Publication
VAR_066808
Natural varianti402 – 4043GIG → VC in PSACH. 1 Publication
VAR_066809
Natural varianti404 – 4041G → R in EDM1. 1 Publication
VAR_066810
Natural varianti408 – 4081D → Y in EDM1. 1 Publication
VAR_007627
Natural varianti410 – 4101C → Y in EDM1; phenotype overlapping with mild PSACH. 1 Publication
VAR_066811
Natural varianti415 – 4151N → K in EDM1. 1 Publication
VAR_066812
Natural varianti420 – 4201D → A in EDM1. 1 Publication
VAR_026240
Natural varianti427 – 4271G → E in EDM1. 1 Publication
VAR_066813
Natural varianti430 – 4323CDS → LWC in EDM1. 1 Publication
VAR_066814
Natural varianti440 – 4401G → E in PSACH; mild form.
VAR_007628
Natural varianti440 – 4401G → R in PSACH. 2 Publications
VAR_007629
Natural varianti446 – 4461D → N in PSACH. 1 Publication
VAR_066815
Natural varianti448 – 4481C → S in PSACH. 1 Publication
VAR_066816
Natural varianti453 – 4531N → S in EDM1; Fairbank type. 1 Publication
Corresponds to variant rs28936668 [ dbSNP | Ensembl ].
VAR_007630
Natural varianti457 – 4571Missing in EDM1. 1 Publication
VAR_066817
Natural varianti459 – 4591Missing in PSACH; severe form. 2 Publications
VAR_007631
Natural varianti468 – 4681C → Y in PSACH; severe form. 2 Publications
VAR_007632
Natural varianti469 – 4691Missing in PSACH; severe form; MUT3 mutant; most common mutation; binds less calcium and causes misfolding of the protein; greatly reduced interaction with ACAN; reduced interaction with collagen. 1 Publication
VAR_007633
Natural varianti472 – 4721D → Y in PSACH; severe form. 2 Publications
VAR_007634
Natural varianti473 – 4731D → DD in EDM1. 1 Publication
VAR_066818
Natural varianti473 – 4731D → G in PSACH; severe form.
Corresponds to variant rs28936669 [ dbSNP | Ensembl ].
VAR_007635
Natural varianti473 – 4731D → H in PSACH. 1 Publication
VAR_066819
Natural varianti473 – 4731Missing in PSACH; severe form. 1 Publication
VAR_007636
Natural varianti475 – 4751D → N in PSACH. 1 Publication
VAR_066820
Natural varianti482 – 4821D → G in PSACH. 2 Publications
VAR_007637
Natural varianti501 – 5011G → D in EDM1. 1 Publication
VAR_066821
Natural varianti507 – 5071D → G in PSACH. 1 Publication
VAR_066822
Natural varianti511 – 5111D → G in PSACH. 1 Publication
VAR_066823
Natural varianti513 – 5164Missing in PSACH; mild form. 1 Publication
VAR_007638
Natural varianti515 – 5151D → G in PSACH. 1 Publication
VAR_066824
Natural varianti518 – 5181D → N in PSACH; mild form.
VAR_007639
Natural varianti523 – 5231N → K in EDM1; Ribbing type. 2 Publications
VAR_007640
Natural varianti529 – 5291T → I in PSACH. 1 Publication
VAR_066825
Natural varianti585 – 5851T → M in PSACH; mild form and EDM1. 2 Publications
VAR_007641
Natural varianti585 – 5851T → R in EDM1 and PSACH. 2 Publications
VAR_007642
Natural varianti718 – 7181R → P in EDM1. 1 Publication
VAR_066826
Natural varianti718 – 7181R → W in EDM1. 1 Publication
Corresponds to variant rs28936368 [ dbSNP | Ensembl ].
VAR_066827
Natural varianti719 – 7191G → D in PSACH; severe. 1 Publication
VAR_017103
Natural varianti719 – 7191G → S in PSACH. 1 Publication
VAR_066828
Natural varianti756 – 7561Q → R in a patient with multiple epiphyseal dysplasia. 1 Publication
Corresponds to variant rs61752496 [ dbSNP | Ensembl ].
VAR_066829

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei129 – 18153Missing in isoform 2. 1 Publication