| Type | Description |
|---|---|
| Definition | ER membrane protein complex subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-02 12:49:00 | Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment. | 32092440 |
| 2017-10-28 11:55:00 | The authors find that a member of the endoplasmic reticulum membrane protein complex (EMC) called EMC1 promotes SV40 virus endoplasmic reticulum membrane transport and infection. | 28012275 |
| 2016-07-30 10:39:00 | EMC1 is a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum. | 26942288 |
| 2010-04-07 21:39:00 | Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20095854 |
| Type | IDs |
|---|---|
| Synonymous | CAVIPMR, KIAA0090 |
| Gene |
UniProtKB-ID:
EMC1_HUMAN
UniprotKB:
Q8N766
UniParc:
UPI0000070A23,
UPI0000DD093F,
UPI00004709B6,
UPI0000DD093E
EMBL:
BC034589,
AK291618,
AL035413,
BX648627,
D42044,
CH471134,
AK075563,
BX648708
Ensembl:
ENSG00000127463
KO:
hsa:23065
|
| Nucleutide sequences |
EMBL-CDS:
EAW94871.1,
BAC11702.1,
CAH56140.1,
BAA07645.2,
CAH56165.1,
AAH34589.1,
BAF84307.1
Gene_ORFName:
PSEC0263
Ensembl_TRS:
ENST00000477853,
ENST00000375199,
ENST00000375208
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000364354,
ENSP00000364345,
ENSP00000420608
RefSeq:
NP_001258357.1,
NP_001258356.1,
NP_001258358.1,
NP_055862.1,
NP_001362750.1,
NP_001362749.1
|
| Others |
UniRef100:
UniRef100_Q8N766
UniRef90:
UniRef90_Q8N766
UniRef50:
UniRef50_Q8N766
UniGene:
Hs.439200
CCDS:
CCDS59191.1,
CCDS190.1,
CCDS59190.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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