EMID1 (EMI domain containing 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
129080
Gene name Gene Name - the full gene name approved by the HGNC.
EMI domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMID1
Synonyms (NCBI Gene) Gene synonyms aliases
EMI5, EMU1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(116)
miRTarBase ID miRNA Experiments Reference
MIRT045757 hsa-miR-125a-5p CLASH 23622248
MIRT483870 hsa-miR-4716-3p PAR-CLIP 23592263
MIRT483869 hsa-miR-6794-5p PAR-CLIP 23592263
MIRT483867 hsa-miR-6777-5p PAR-CLIP 23592263
MIRT483868 hsa-miR-6889-5p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005581 Component Collagen trimer IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005794 Component Golgi apparatus IEA
GO:0031012 Component Extracellular matrix IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608926 18036 ENSG00000186998
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96A84
Protein name EMI domain-containing protein 1 (Emilin and multimerin domain-containing protein 1) (Emu1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07546 EMI 34 → 101 EMI domain Domain
PF01391 Collagen 212 → 270 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 286 → 343 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 312 → 374 Collagen triple helix repeat (20 copies) Repeat
Sequence 
MGGPRAWALLCLGLLLPGGGAAWSIGAAPFSGRRNWCSYVVTRTISCHVQNGTYLQRVLQ
NCPWPMSCPGSSYRTVVRPTYKVMYKIVTAREWRCCPGHSGVSCEEASSASLEPMWSGST
MRRMALRPTAFSGCLNCSKVSELTERLKVLEAKMTMLTVIEQPVPPTPATPEDPAPLWGP
PPAQGSPGDGGLQDQVGAWGLPGPTGPKGDAGSRGPMGMRGPPGPQGPPGSPGRAGAVGT
PGERGPPGPPGPPGPPGPPAPVGPPHARISQHGDPLLSNTFTETNNHWPQGPTGPPGPPG
PMGPPGPPGPTGVPGSPGHIGPPGPTGPKGISGHPGEKGERGLRGEPGPQGSAGQRGEPG
PKGDPGEKSHWGEGLHQLREALKILAERVLILETMIGLYEPELGSGAGPAGTGTPSLLRG
KRGGHATNYRIVAPRSRDERG
Sequence length 441
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acro Osteolysis Associate 23334979