2. Gene
  3. EMILIN1 - elastin microfibril interfacer 1 Gene

EMILIN1 - elastin microfibril interfacer 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as EMI; HMN10; gp115; EMILIN

Gene ID: 11117 | Gene type: protein coding

About EMILIN1

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,078,615-27,086,403 (from NCBI)

This gene has 2 transcripts (splice variants), 259 orthologues, 4 paralogues and is associated with 1 phenotype. Broad expression in endometrium (RPKM 33.6), prostate (RPKM 26.6) and 20 other tissues.

Summary

This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]

EMILIN1 Products(1)

mRNA Protein Name
NM_007046.4 NP_008977.1 EMILIN-1 precursor

EMILIN1 Protein Structure

EMI

EMI: EMI domain (56 - 127)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (814 - 867)

C1q

C1q: C1q domain (872 - 1007)

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  • 1016 a.a.
Protein Preferred Names Protein Names

EMILIN-1

elastin microfibril interface-located protein 1

Related Diseases

Diseases Alias
Neuronopathy, Distal Hereditary Motor, Type X

HMN10

Neuropathy, Distal Hereditary Motor, Type X

Dhmn10
Emilin-1-Related Connective Tissue Disease
Arterial Tortuosity Syndrome

Arterial Tortuosity

Ats

ATORS

Tortuosity, Arterial, Syndrome
Parosteal Osteosarcoma

Juxtacortical Osteosarcoma

Parosteal Osteogenic Sarcoma

Osteosarcoma, Juxtacortical
Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04350 EMILIN1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus EMILIN1 VGNC VGNC:61845
Bos taurus EMILIN1 VGNC VGNC:28473
Mus musculus EMILIN1 MGD MGI:1926189
Rattus norvegicus EMILIN1 RGD RGD:1311209
Macaca mulatta EMILIN1 VGNC VGNC:72075
Canis familiaris EMILIN1 VGNC VGNC:40343