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Protein

Extracellular matrix protein 1

Gene

ECM1

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

Functioni

Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.3 Publications

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • interleukin-2 receptor binding Source: Ensembl
  • laminin binding Source: UniProtKB
  • protease binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • signal transducer activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processAngiogenesis, Biomineralization, Mineral balance, Osteogenesis

Enzyme and pathway databases

ReactomeiR-HSA-114608. Platelet degranulation.

Names & Taxonomyi

Protein namesi
Recommended name:
Extracellular matrix protein 1
Alternative name(s):
Secretory component p85
Gene namesi
Name:ECM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143369.14.
HGNCiHGNC:3153. ECM1.

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

Lipoid proteinosis (LiP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane.
See also OMIM:247100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018691167F → I in LiP. 1 PublicationCorresponds to variant dbSNP:rs121909116Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1893.
MalaCardsiECM1.
MIMi247100. phenotype.
OpenTargetsiENSG00000143369.
Orphaneti530. Lipoid proteinosis.
PharmGKBiPA27598.

Polymorphism and mutation databases

BioMutaiECM1.
DMDMi48429255.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19By similarityAdd BLAST19
ChainiPRO_000002114620 – 540Extracellular matrix protein 1Add BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi354N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi444N-linked (GlcNAc...) (complex) asparagine2 Publications1
Glycosylationi530N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ16610.
PaxDbiQ16610.
PeptideAtlasiQ16610.
PRIDEiQ16610.

PTM databases

iPTMnetiQ16610.
PhosphoSitePlusiQ16610.

Expressioni

Tissue specificityi

Expressed in breast cancer tissues. Little or no expression observed in normal breast tissues. Expressed in skin; wide expression is observed throughout the dermis with minimal expression in the epidermis.2 Publications

Gene expression databases

BgeeiENSG00000143369.
CleanExiHS_ECM1.
ExpressionAtlasiQ16610. baseline and differential.
GenevisibleiQ16610. HS.

Organism-specific databases

HPAiHPA027241.

Interactioni

Subunit structurei

Interacts (via C-terminus) with HSPG2 (via C-terminus). Interacts with EFEMP1/FBLN3 and LAMB3. Interacts with MMP9.3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • interleukin-2 receptor binding Source: Ensembl
  • laminin binding Source: UniProtKB
  • protease binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108222. 30 interactors.
IntActiQ16610. 30 interactors.
MINTiMINT-2858262.
STRINGi9606.ENSP00000358045.

Structurei

3D structure databases

ProteinModelPortaliQ16610.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati150 – 2791Add BLAST130
Repeati283 – 4052Add BLAST123

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni150 – 4052 X approximate repeatsAdd BLAST256

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IVN8. Eukaryota.
ENOG4111TGN. LUCA.
GeneTreeiENSGT00390000006215.
HOVERGENiHBG005561.
InParanoidiQ16610.
OMAiCCHYPPS.
OrthoDBiEOG091G0NAE.
PhylomeDBiQ16610.
TreeFamiTF330786.

Family and domain databases

InterProiView protein in InterPro
IPR008605. ECM1.
IPR020858. Serum_albumin-like.
PfamiView protein in Pfam
PF05782. ECM1. 1 hit.
SUPFAMiSSF48552. SSF48552. 2 hits.

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16610-1) [UniParc]FASTAAdd to basket
Also known as: 1a

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
MGTTARAALV LTYLAVASAA SEGGFTATGQ RQLRPEHFQE VGYAAPPSPP
60 70 80 90 100
LSRSLPMDHP DSSQHGPPFE GQSQVQPPPS QEATPLQQEK LLPAQLPAEK
110 120 130 140 150
EVGPPLPQEA VPLQKELPSL QHPNEQKEGT PAPFGDQSHP EPESWNAAQH
160 170 180 190 200
CQQDRSQGGW GHRLDGFPPG RPSPDNLNQI CLPNRQHVVY GPWNLPQSSY
210 220 230 240 250
SHLTRQGETL NFLEIGYSRC CHCRSHTNRL ECAKLVWEEA MSRFCEAEFS
260 270 280 290 300
VKTRPHWCCT RQGEARFSCF QEEAPQPHYQ LRACPSHQPD ISSGLELPFP
310 320 330 340 350
PGVPTLDNIK NICHLRRFRS VPRNLPATDP LQRELLALIQ LEREFQRCCR
360 370 380 390 400
QGNNHTCTWK AWEDTLDKYC DREYAVKTHH HLCCRHPPSP TRDECFARRA
410 420 430 440 450
PYPNYDRDIL TIDIGRVTPN LMGHLCGNQR VLTKHKHIPG LIHNMTARCC
460 470 480 490 500
DLPFPEQACC AEEEKLTFIN DLCGPRRNIW RDPALCCYLS PGDEQVNCFN
510 520 530 540
INYLRNVALV SGDTENAKGQ GEQGSTGGTN ISSTSEPKEE
Length:540
Mass (Da):60,674
Last modified:June 7, 2004 - v2
Checksum:iEA575895CDE068BE
GO
Isoform 2 (identifier: Q16610-2) [UniParc]FASTAAdd to basket
Also known as: 1b

The sequence of this isoform differs from the canonical sequence as follows:
     237-361: Missing.

Show »
Length:415
Mass (Da):46,099
Checksum:iE6878AE9DEF1D5AC
GO
Isoform 3 (identifier: Q16610-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: Missing.
     72-81: QSQVQPPPSQ → MALPLRDRVK
     237-241: WEEAM → VRLGS
     242-540: Missing.

Show »
Length:170
Mass (Da):19,069
Checksum:i4C3B05692F1D1C8C
GO
Isoform 4 (identifier: Q16610-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-74: Q → GKEGRGPRPHSQPWLGERVGCSHIPPSI

Note: May be due to intron retention.
Show »
Length:567
Mass (Da):63,563
Checksum:iFBCFB0E51CE13735
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti78 – 84Missing in BAG63622 (PubMed:14702039).Curated7
Sequence conflicti520Q → R in BAF85124 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018690130T → M3 PublicationsCorresponds to variant dbSNP:rs3737240Ensembl.1
Natural variantiVAR_018691167F → I in LiP. 1 PublicationCorresponds to variant dbSNP:rs121909116Ensembl.1
Natural variantiVAR_014761415G → S4 PublicationsCorresponds to variant dbSNP:rs13294Ensembl.1
Natural variantiVAR_014762528G → R. Corresponds to variant dbSNP:rs1050901Ensembl.1
Natural variantiVAR_014763535S → F. Corresponds to variant dbSNP:rs1050904Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0364111 – 71Missing in isoform 3. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_03641272 – 81QSQVQPPPSQ → MALPLRDRVK in isoform 3. 1 Publication10
Alternative sequenceiVSP_03641374Q → GKEGRGPRPHSQPWLGERVG CSHIPPSI in isoform 4. 1 Publication1
Alternative sequenceiVSP_036414237 – 361Missing in isoform 2. 1 PublicationAdd BLAST125
Alternative sequenceiVSP_036415237 – 241WEEAM → VRLGS in isoform 3. 1 Publication5
Alternative sequenceiVSP_036416242 – 540Missing in isoform 3. 1 PublicationAdd BLAST299

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U68186 mRNA. Translation: AAB88081.1.
U68187 mRNA. Translation: AAB88082.1.
U65932 mRNA. Translation: AAB05933.1.
U65938
, U65933, U65934, U65935, U65936, U65937 Genomic DNA. Translation: AAB05934.1.
AK097046 mRNA. Translation: BAG53412.1.
AK292435 mRNA. Translation: BAF85124.1.
AK301369 mRNA. Translation: BAG62911.1.
AK302279 mRNA. Translation: BAG63622.1.
AL356356 Genomic DNA. Translation: CAI15491.1.
AL356356 Genomic DNA. Translation: CAI15492.1.
AL356356 Genomic DNA. Translation: CAI15493.1.
CH471121 Genomic DNA. Translation: EAW53544.1.
CH471121 Genomic DNA. Translation: EAW53545.1.
CH471121 Genomic DNA. Translation: EAW53546.1.
BC023505 mRNA. Translation: AAH23505.1.
CCDSiCCDS55632.1. [Q16610-4]
CCDS953.1. [Q16610-1]
CCDS954.1. [Q16610-2]
RefSeqiNP_001189787.1. NM_001202858.1. [Q16610-4]
NP_004416.2. NM_004425.3. [Q16610-1]
NP_073155.2. NM_022664.2. [Q16610-2]
UniGeneiHs.81071.

Genome annotation databases

EnsembliENST00000346569; ENSP00000271630; ENSG00000143369. [Q16610-2]
ENST00000369047; ENSP00000358043; ENSG00000143369. [Q16610-1]
ENST00000369049; ENSP00000358045; ENSG00000143369. [Q16610-4]
GeneIDi1893.
KEGGihsa:1893.
UCSCiuc001eus.4. human. [Q16610-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiECM1_HUMAN
AccessioniPrimary (citable) accession number: Q16610
Secondary accession number(s): A8K8S0
, B4DW49, B4DY60, O43266, Q5T5G4, Q5T5G5, Q5T5G6, Q8IZ60
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: June 7, 2004
Last modified: September 27, 2017
This is version 151 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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot