Gene
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005581 Component Collagen trimer IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608926 18036 ENSG00000186998
Protein
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
NCPWPMSCPGSSYRTVVRPTYKVMYKIVTAREWRCCPGHSG
VSCEEASSASLEPMWSGST
MRRMALRPTAFSGCLNCSKVSELTERLKVLEAKMTMLTVIEQPVPPTPATPEDPAPLWGP
PPAQGSPGDGGLQDQVGAWGLPGPTGPKGDAGSRGPMGMRGPPGPQGPPGSPGRAGAVGT
PGERGPPGPPGPPGPPGPPAPVGPPHARIS
QHGDPLLSNTFTETNNHWPQGPTGPPGPPG
PMGPPGPPGPT
GVPGSPGHIGPPGPTGPKGISGHPGEKGERGLRGEPGPQGSAGQRGEPG
PKGDPGEKSHWGEG
LHQLREALKILAERVLILETMIGLYEPELGSGAGPAGTGTPSLLRG
KRGGHATNYRIVAPRSRDERG
Sequence length 441
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
23535729
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
23535729, 25751625, 29059683
Associations from Text Mining
Disease Name Relationship Type References
Acro Osteolysis Associate 23334979