ECM1 extracellular matrix protein 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ECM1provided by HGNC
Official Full Name: extracellular matrix protein 1provided by HGNC
Primary source: HGNC:3153
Locus tag: RP11-54A4.6
See related: Ensembl:ENSG00000143369; HPRD:03727; MIM:602201; Vega:OTTHUMG00000012806
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

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Genomic context

Location :: 1q21

Sequence :: Chromosome: 1; NC_000001.10 (150480487..150486265)

See ECM1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Case Report: a novel mutation in Pakistani family extends the body of evidence that supports the importance of ECM1 gene for the development of lipoid proteinosis.
Title: Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.
neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families
Title: Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
ECM1 played an important role in the growth, metastasis and angiogenesis of laryngeal carcinoma.
Title: [The relationship between ECM1 and the angiogenesis and metastasis of laryngeal carcinoma].
PLSCR1 interacts with the tandem repeat region of ECM1a in the dermal epidermal junction zone of human skin.
Title: Phospholipid scramblase 1 is secreted by a lipid raft-dependent pathway and interacts with the extracellular matrix protein 1 in the dermal epidermal junction zone of human skin.
The ECM/SULF1 and ECM/COLLAGEN metagenes showed inconsistent association with DMFS in the three prognostic data sets in both breast neoplasm subtypes, and the combined P values were not significant.
Title: Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and -negative cancers.
Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.
A novel homozygous 62-bp insertion in exon 8 of ECM1 in this Pakistani family is a rare mutation affecting both alleles and it may help in further understanding the multifunctional role of ECM1
Title: A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk.
Identify novel mutations in the human ECM-1 gene in lipoid proteinosis and report lack of genotype-phenotype correlation. (Case report)
Title: Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
Overexpression of ECM1 is associated with invasive breast carcinomas.
Title: Extracellular matrix 1 (ECM1) expression is a novel prognostic marker for poor long-term survival in breast cancer: a Hospital-based Cohort Study in Iowa.

Submit: New GeneRIF Correction See all (23)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q16610	P54259	ATN1	HPRD	PubMed
Q16610	P23142	FBLN1	HPRD	PubMed
Q16610	P98160	HSPG2	HPRD	PubMed
Q16610	Q9P2R6	RERE	HPRD	PubMed
BioGRID:108222	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
enzyme binding	IPI Inferred from Physical Interaction more info
laminin binding	IPI Inferred from Physical Interaction more info	PubMed
protease binding	IPI Inferred from Physical Interaction more info	PubMed
protein C-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
signal transducer activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
biomineral tissue development	IEA Inferred from Electronic Annotation more info
negative regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
negative regulation of peptidase activity	IDA Inferred from Direct Assay more info	PubMed
ossification	IEA Inferred from Electronic Annotation more info
positive regulation of I-kappaB kinase/NF-kappaB cascade	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
extracellular matrix	IDA Inferred from Direct Assay more info
extracellular region	IEA Inferred from Electronic Annotation more info
proteinaceous extracellular matrix	NAS Non-traceable Author Statement more info	PubMed

General protein information

Preferred Names: extracellular matrix protein 1

Names: extracellular matrix protein 1; secretory component p85

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012062.1 RefSeqGene

Range

5001..10779

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001202858.1 → NP_001189787.1 extracellular matrix protein 1 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses alternate in-frame donor and acceptor splice sites at 2 adjacent exons compared to variant 1, resulting in a longer isoform (3) compared to isoform 1.

Source sequence(s)

AK097046, CA413352, DA963826

Consensus CDS

CCDS55632.1

UniProtKB/Swiss-Prot

Q16610

Related

ENSP00000358045, OTTHUMP00000014933, ENST00000369049, OTTHUMT00000035833

Conserved Domains (1) summary

pfam05782
Location:1 – 306
Blast Score: 1021

ECM1; Extracellular matrix protein 1 (ECM1)
NM_004425.3 → NP_004416.2 extracellular matrix protein 1 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.

Source sequence(s)

AL356356, CA413352, DA963826, U68186

Consensus CDS

CCDS953.1

UniProtKB/Swiss-Prot

Q16610

Related

ENSP00000358043, OTTHUMP00000014932, ENST00000369047, OTTHUMT00000035832

Conserved Domains (1) summary

pfam05782
Location:1 – 279
Blast Score: 1097

ECM1; Extracellular matrix protein 1 (ECM1)
NM_022664.2 → NP_073155.2 extracellular matrix protein 1 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AK097046, AL356356, CA413352, DA963826, U68187

Consensus CDS

CCDS954.1

UniProtKB/Swiss-Prot

Q16610

Related

ENSP00000271630, OTTHUMP00000014934, ENST00000346569, OTTHUMT00000035834

Conserved Domains (1) summary

pfam05782
Location:1 – 415
Blast Score: 1840

ECM1; Extracellular matrix protein 1 (ECM1)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

150480487..150486265

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

121858654..121864432

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL356356.17	CAI15491.1
		CAI15492.1
		CAI15493.1
genomic	CH471121.2	EAW53544.1
		EAW53545.1
		EAW53546.1
		EAW53547.1
genomic	U65938.1	AAB05934.1
mRNA	AK097046.1	BAG53412.1
mRNA	AK097205.1	None
mRNA	AK292435.1	BAF85124.1
mRNA	AK301369.1	BAG62911.1
mRNA	AK302279.1	BAG63622.1
mRNA	AK316390.1	BAH14761.1
mRNA	BC023505.2	AAH23505.1
mRNA	CA413352.1	None
mRNA	DA963826.1	None
mRNA	U65932.1	AAB05933.1
mRNA	U68186.1	AAB88081.1
mRNA	U68187.1	AAB88082.1
other-genetic	DQ893011.2	ABM83937.1
other-genetic	DQ896257.2	ABM87256.1