EMID1 (EMI domain containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 129080
Gene name EMI domain containing 1
Gene symbol EMID1
Synonyms (NCBI Gene)
EMI5EMU1
Chromosome 22
Chromosome location 22q12.2
miRNA miRNA information provided by mirtarbase database.
116
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608926 18036 ENSG00000186998
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Benign rs78400471 RCV005911659
Uterine carcinosarcoma Benign rs78400471 RCV005911660
Uterine corpus endometrial carcinoma Benign rs78400471 RCV005911661
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acro Osteolysis Associate 23334979