EMILIN1 | ENSG00000138080 | NCBI 11117

Details for: EMILIN1

Gene ID: 11117

Symbol: EMILIN1

Ensembl ID: ENSG00000138080

Description: elastin microfibril interfacer 1

Associated with

Elastic fibre formation
(R-HSA-1566948)
Extracellular matrix organization
(R-HSA-1474244)
Molecules associated with elastic fibres
(R-HSA-2129379)
Aortic valve morphogenesis
(GO:0003180)
Cell-matrix adhesion
(GO:0007160)
Cell adhesion
(GO:0007155)
Cell adhesion mediated by integrin
(GO:0033627)
Cell migration
(GO:0016477)
Collagen-containing extracellular matrix
(GO:0062023)
Collagen trimer
(GO:0005581)
Elastic fiber assembly
(GO:0048251)
Emilin complex
(GO:1990971)
Extracellular exosome
(GO:0070062)
Extracellular matrix constituent conferring elasticity
(GO:0030023)
Extracellular matrix structural constituent
(GO:0005201)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Identical protein binding
(GO:0042802)
Integrin alpha4-beta1 complex
(GO:0034668)
Integrin binding involved in cell-matrix adhesion
(GO:0098640)
Molecular adaptor activity
(GO:0060090)
Negative regulation of angiogenesis
(GO:0016525)
Negative regulation of cell activation
(GO:0050866)
Negative regulation of cell migration
(GO:0030336)
Negative regulation of collagen biosynthetic process
(GO:0032966)
Negative regulation of collagen fibril organization
(GO:1904027)
Negative regulation of erk1 and erk2 cascade
(GO:0070373)
Negative regulation of gene expression
(GO:0010629)
Negative regulation of macrophage migration
(GO:1905522)
Negative regulation of smad protein signal transduction
(GO:0060392)
Negative regulation of vascular endothelial growth factor receptor signaling pathway
(GO:0030948)
Negative regulation of vascular endothelial growth factor signaling pathway
(GO:1900747)
Positive regulation of angiogenesis
(GO:0045766)
Positive regulation of apoptotic process
(GO:0043065)
Positive regulation of blood coagulation
(GO:0030194)
Positive regulation of cell-substrate adhesion
(GO:0010811)
Positive regulation of defense response to bacterium
(GO:1900426)
Positive regulation of extracellular matrix assembly
(GO:1901203)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of platelet aggregation
(GO:1901731)
Protein binding
(GO:0005515)
Regulation of blood pressure
(GO:0008217)
Regulation of cell population proliferation
(GO:0042127)

Other Information

Proteins

EMILIN-1

Genular Protein ID: 3145472066

Symbol: EMIL1_HUMAN

Name: EMILIN-1

UniProtKB Accession Codes:

Q9Y6C2 A0A0C4DFX3 A5PL03 H0Y7A0 Q53SY9 Q96G58 Q96IH6 Q9UG76

Database IDs:

Citations:

PubMed ID: 10358019

Title: EMILIN, a component of the elastic fiber and a new member of the C1q/tumor necrosis factor superfamily of proteins.

PubMed ID: 10358019

DOI: 10.1074/jbc.274.24.16773

PubMed ID: 10625608

Title: Structure, chromosomal localization, and promoter analysis of the human elastin microfibril interface located protein (EMILIN) gene.

PubMed ID: 10625608

DOI: 10.1074/jbc.275.2.785

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 11278945

Title: Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily.

PubMed ID: 11278945

DOI: 10.1074/jbc.m011591200

PubMed ID: 16263699

Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.

PubMed ID: 16263699

DOI: 10.1074/mcp.m500324-mcp200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 19023665

Title: NMR-based homology model for the solution structure of the C-terminal globular domain of EMILIN1.

PubMed ID: 19023665

DOI: 10.1007/s10858-008-9290-y

PubMed ID: 26462740

Title: Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal-dominant hereditary connective tissue disease.

PubMed ID: 26462740

DOI: 10.1002/humu.22920

PubMed ID: 31978608

Title: Distal motor neuropathy associated with novel EMILIN1 mutation.

PubMed ID: 31978608

DOI: 10.1016/j.nbd.2020.104757

Sequence Information:

Length: 1016
Mass: 106695
Checksum: 6CF330238DD0EE26
Sequence:

MAPRTLWSCY LCCLLTAAAG AASYPPRGFS LYTGSSGALS PGGPQAQIAP RPASRHRNWC 
AYVVTRTVSC VLEDGVETYV KYQPCAWGQP QCPQSIMYRR FLRPRYRVAY KTVTDMEWRC 
CQGYGGDDCA ESPAPALGPA SSTPRPLARP ARPNLSGSSA GSPLSGLGGE GPGESEKVQQ 
LEEQVQSLTK ELQGLRGVLQ GLSGRLAEDV QRAVETAFNG RQQPADAAAR PGVHETLNEI 
QHQLQLLDTR VSTHDQELGH LNNHHGGSSS SGGSRAPAPA SAPPGPSEEL LRQLEQRLQE 
SCSVCLAGLD GFRRQQQEDR ERLRAMEKLL ASVEERQRHL AGLAVGRRPP QECCSPELGR 
RLAELERRLD VVAGSVTVLS GRRGTELGGA AGQGGHPPGY TSLASRLSRL EDRFNSTLGP 
SEEQEESWPG APGGLSHWLP AARGRLEQLG GLLANVSGEL GGRLDLLEEQ VAGAMQACGQ 
LCSGAPGEQD SQVSEILSAL ERRVLDSEGQ LRLVGSGLHT VEAAGEARQA TLEGLQEVVG 
RLQDRVDAQD ETAAEFTLRL NLTAARLGQL EGLLQAHGDE GCGACGGVQE ELGRLRDGVE 
RCSCPLLPPR GPGAGPGVGG PSRGPLDGFS VFGGSSGSAL QALQGELSEV ILSFSSLNDS 
LNELQTTVEG QGADLADLGA TKDRIISEIN RLQQEATEHA TESEERFRGL EEGQAQAGQC 
PSLEGRLGRL EGVCERLDTV AGGLQGLREG LSRHVAGLWA GLRETNTTSQ MQAALLEKLV 
GGQAGLGRRL GALNSSLQLL EDRLHQLSLK DLTGPAGEAG PPGPPGLQGP PGPAGPPGSP 
GKDGQEGPIG PPGPQGEQGV EGAPAAPVPQ VAFSAALSLP RSEPGTVPFD RVLLNDGGYY 
DPETGVFTAP LAGRYLLSAV LTGHRHEKVE AVLSRSNQGV ARVDSGGYEP EGLENKPVAE 
SQPSPGTLGV FSLILPLQAG DTVCVDLVMG QLAHSEEPLT IFSGALLYGD PELEHA

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: EMILIN1

Associated with

Other Information

EMILIN, a component of the elastic fiber and a new member of the C1q/tumor necrosis factor superfamily of proteins. PubMed ID: 10358019

Structure, chromosomal localization, and promoter analysis of the human elastin microfibril interface located protein (EMILIN) gene. PubMed ID: 10625608

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily. PubMed ID: 11278945

Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. PubMed ID: 16263699

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

NMR-based homology model for the solution structure of the C-terminal globular domain of EMILIN1. PubMed ID: 19023665

Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal-dominant hereditary connective tissue disease. PubMed ID: 26462740

Distal motor neuropathy associated with novel EMILIN1 mutation. PubMed ID: 31978608