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0EMIL1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameEMILIN1
DescriptionEmilin-1 precursor (elastin microfibril interface-located protein 1) (elastin microfibril interfacer 1).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005515 protein binding (IPI)
0007155 cell adhesion (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The Pfam alignment for this domain is truncated at the C terminus and does not include the final cysteine defined in Callebaut et al . This is to stop the family overlapping with other domains.
  IPR011489:EMI
C1q is a subunit of the C1 enzyme complex that activates the serum complementsystem. C1q comprises 6 A. B and 6 C chains. These share the same topology.achpossessing a small.lobular N-terminal domain. collagen-like Gly/Pro-rich centralregion.nd a conserved C-terminal region.he C1q domain . The C1qprotein is produced in collagen-producing cells and shows sequence and structuralsimilarity to collagens VIII and X .
  IPR001073:Complement C1q protein
Members of this family belong to the collagen superfamily .Collagens are generally extracellular structural proteinsinvolved in formation of connective tissue structure.The sequence is predominantly repeats of the G-X-Y and the polypeptide chainsform a triple helix. The first position of the repeat isglycine.he second and third positions can be any residuebut are frequently proline and hydroxyproline. Collagensare post-translationally modified by proline hydroxylaseto form the hydroxyproline residues. Defectivehydroxylation is the cause of scurvy.Some members of the collagen superfamily are not involvedin connective tissue structure but share the same triplehelical structure.
  IPR008160:Collagen triple helix repeat
The tumour necrosis factor (TNF)-like domains are found in both TNF and C1q protein families. Structurally these domains self-associate to make a compact bell-shaped homotrimer.ach monomer being composed of an anti-parallel beta-sheet sandwich with a jellyroll topology. Both TNF and C1q family members can be expressed as soluble plasma proteins or as type II membrane-bound proteins. TNF family members bind extracellularly to cysteine-rich receptors.hereby inducing a clustering of the receptors.hich subsequently triggers the intracellular apoptotic cascade. The TNF proteins are important mediators in inflammation.mmune responses and cytotoxicity through their interaction with the TNF-R55 and the TNF-R75 cell-surface receptors . Other TNF family members include the CD40 ligand (C-terminal TNF-like domain) which is involved in the immune response via the CD40 receptor .RAIL which selectively induces apoptosis in tumour cells via DR4 and DR5 receptors .he RANK ligand which triggers osteoclastogenesis via the RANK receptor .nd TALL-1 (soluble domain) which is involved in the immune response via the TACI.CMA.nd BAFF-R receptors . C1q proteins also contain TNF-like domains. C1q family members include the serum protein ACRP30 (C-terminal TNF-like domain) which may be involved in energy homeostasis and obesity.nd X-NC1 (C-terminal TNF-like domain) which is crucial for collagen X assembly in bone tissue . The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR008983:TNF-like
IPR011489:EMI 
Evalue:-30.9208183288574 
Location:56-128IPR001073:C1q 
Evalue:-11.8239088058472 
Location:872-918IPR008160:Collagen 
Evalue:-7.01322841644287 
Location:814-864IPR000577:FGGY_KINASES_2 
Evalue:0 
Location:0-0
SequencesProtein: EMIL1_HUMAN (1016 aa)
mRNA: NM_007046
Local Annotation
Synapse Ontology
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 57 residues, 27155437-27155607Exon2: 42 residues, 27156522-27156642Exon3: 75 residues, 27157103-27157324Exon4: 645 residues, 27158454-27160383Exon5: 41 residues, 27160786-27160905Exon6: 48 residues, 27161530-27161669Exon7: 241 residues, 27162049-27162767Exon8: 2 residues, -Jump to EMIL1_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3152 27047028-27103590 ~-57K 20131(MAPRE3)(+)Loci: 3153 27155437-27162767 ~-7K 20145(EMILIN1)(+)Loci: 4428 27207130-27211046 ~-4K 20152(PREB)(-)Loci: 4429 27330944-27339464 ~-9K 20162(SLC30A3)(-)Loci: 3154 27446892-27453498 ~-7K 20173(SNX17)(+)Loci: 3155 27848089-27856103 ~-8K 20199(+)Loci: 3151 26924466-27024572 ~-100K 20130(DPYSL5)(+)Link out to UCSC