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EMILIN3 elastin microfibril interfacer 3 [ Homo sapiens (human) ]

Gene ID: 90187, updated on 7-Jun-2020

Summary

Official Symbol
EMILIN3provided by HGNC
Official Full Name
elastin microfibril interfacer 3provided by HGNC
Primary source
HGNC:HGNC:16123
See related
Ensembl:ENSG00000183798 MIM:608929
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EMILIN5; C20orf130; dJ620E11.4
Expression
Ubiquitous expression in ovary (RPKM 6.7), duodenum (RPKM 6.1) and 24 other tissues See more
Orthologs

Genomic context

See EMILIN3 in Genome Data Viewer
Location:
20q12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (41359962..41366818, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (39988606..39995498, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc fingers and homeoboxes 3 Neighboring gene RNA, 7SL, cytoplasmic 615, pseudogene Neighboring gene acireductone dioxygenase 1 pseudogene 1 Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene lipin 3 Neighboring gene chromodomain helicase DNA binding protein 6 Neighboring gene ribosomal protein L12 pseudogene 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434A2410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix constituent conferring elasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix constituent conferring elasticity RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
EMILIN-3
Names
EMILIN-5
elastin microfibril interface-located protein 3
elastin microfibril interface-located protein 5
elastin microfibril interfacer 5

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.

mRNA and Protein(s)

  1. NM_052846.2NP_443078.1  EMILIN-3 precursor

    See identical proteins and their annotated locations for NP_443078.1

    Status: VALIDATED

    Source sequence(s)
    AB089149, AL031667
    Consensus CDS
    CCDS13316.1
    UniProtKB/Swiss-Prot
    Q9NT22
    Related
    ENSP00000332806.3, ENST00000332312.4
    Conserved Domains (2) summary
    pfam01442
    Location:470647
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam07546
    Location:59125
    EMI; EMI domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    41359962..41366818 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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