EMC1 Gene
protein-coding GIFtS: 41
GCID: GC01M019543
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ER membrane protein complex subunit 1(Previous name: KIAA0090 ) (Previous symbol: KIAA0090)
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Aliases for EMC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| ER Membrane Protein Complex Subunit 11 2 | | KIAA00901 2 3 | | RP1-43E13.12 |
Export aliases for EMC1 gene to outside databases |
Summaries for EMC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for EMC1: This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membraneprotein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. (provided by RefSeq, Sep 2012)
|
Genomic Views for EMC1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004610.19
Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for EMC1 Other transcription factors
Search SABiosciences Chromatin IP Primers for EMC1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EMC1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.13 Ensembl cytogenetic band: 1p36.13 HGNC cytogenetic band: 1p36.13EMC1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M019543: view genomic region
(about GC identifiers)
Start:
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19,542,158 bp from pter |
End:
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19,578,046 bp from pter |
Size:
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35,889 bases |
Orientation:
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minus strand |
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Proteins for EMC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: EMC1_HUMAN, Q8N766 (See
protein sequence)Recommended Name: ER membrane protein complex subunit 1 precursor Size: 993 amino acids; 111759 Da
Subunit: Component of the ER membrane protein complex (EMC)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: A8K6F3 Q14700 Q5TG62 Q63HL0 Q63HL3 Q8NBH8Alternative splicing: 4 isoforms: Q8N766-1 Q8N766-2 Q8N766-3 Q8N766-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for EMC1: NX_Q8N766
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N766 EMC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001258356.1 NP_001258357.1 NP_001258358.1 NP_055862.1 ENSEMBL proteins: ENSP00000420608 ENSP00000364345 ENSP00000364354 ENSP00000364343 ENSP00000419345 ENSP00000417070 ENSP00000418481 ENSP00000364329 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IDA | -- | | GO:0072546 | ER membrane protein complex |
IDA | -- |
EMC1 for ontologies About GeneDecksing
EMC1 Antibody Products: Assay Products for EMC1: |
Protein
Domains / Families for EMC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
EMC1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8N766ProtoNet protein and cluster: Q8N766 UniProtKB/Swiss-Prot: EMC1_HUMAN, Q8N766Similarity: Belongs to the EMC1 family |
Function for EMC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EMC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EMC1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for EMC1 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EMC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMC1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMC1 |
1 GenomeRNAi human phenotype for EMC1:
|
Pathways & Interactions for EMC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EMC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
 5/18 Interacting proteins for EMC1 (Q8N7663 ENSP000004206084) via UniProtKB, MINT, STRING, and/or I2D (see all 18)About this table
|
Drugs & Compounds for EMC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for EMC1 Search CenterWatch for drugs/clinical trials and news about EMC1 
|
Transcripts for EMC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for EMC1 gene (4 alternative transcripts): NM_001271427.1 NM_001271428.1 NM_001271429.1 NM_015047.2 Unigene Cluster for EMC1: ER membrane protein complex subunit 1 Hs.439200 [show with all ESTs]Unigene Representative Sequence: NM_01504715 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000477853(uc001bbo.3 uc001bbp.3 uc001bbq.3 uc001bbr.3) ENST00000375199 ENST00000480380(uc001bbn.3) ENST00000375208 ENST00000375197 ENST00000461353 ENST00000486405 ENST00000486238 ENST00000494770 ENST00000462505 ENST00000496654 ENST00000467423 ENST00000475079 ENST00000488681 ENST00000356068
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EMC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EMC1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for EMC1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EMC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMC1  |
Additional cDNA sequence: AF086373.1 AK025853.1 AK075563.1 AK291618.1 BC016303.2 BC034589.1 BX648627.1 BX648708.1 D42044.2 19 DOTS entries: DT.100036348 DT.217363 DT.100672965 DT.75168650 DT.91965512 DT.121434316 DT.92438087 DT.97767821 DT.121434315 DT.121434327 DT.121434331 DT.121434340 DT.121434342 DT.121434348 DT.121434357 DT.91841281 DT.95102698 DT.95121862 DT.86851106 24/282 AceView cDNA sequences (see all 282): BQ016477 AI203114 BC016303 H06496 BG119095 CF125617 AI955736 BM719428 CF125707 CB046201 BP363906 BX648627 AL703994 CB151184 BP363922 BF195869 CB122177 BF197122 AI990544 W95716 CF264831 BI860193 NM_015047 BQ029775 GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for EMC1 (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | |
| SP1: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |
| SP2: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |
| SP3: | |   | |   | |   | - |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23a | · | 23b | · | 23c | · | 23d | ^ | 24a | · | 24b | · | 24c | ^ | 25a | · | 25b | · | 25c | · | 25d | · | 25e | |
| SP1: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | |   | - |   | - |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for EMC1
|
Expression for EMC1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| See probesets specificity/sensitivity at GeneAnnot CGAP TAG: --
See EMC1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for EMC1
SOURCE GeneReport for Unigene cluster: Hs.439200 SABiosciences Custom PCR Arrays for EMC1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EMC1 Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat EMC1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EMC1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMC1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMC1 |
Orthologs for EMC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for EMC1 gene from 9/29 species (see all 29) About this table
ENSEMBL Gene Tree for EMC1 (if available) TreeFam Gene Tree for EMC1 (if available)  |
Paralogs for EMC1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for EMC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for EMC1 (19542158 - 19578046 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for EMC1: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EMC1 |
|
Disorders
/ Diseases for EMC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
EMC1 for disorders About GeneDecksing
1 disease for EMC1: About MalaCardsbreast cancer Export disorders for EMC1 gene to outside databases
|
Publications for EMC1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for EMC1 gene, integrated from 9 sources (see all 23): (articles sorted by number of sources associating them with EMC1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Defining human ERAD networks through an integrative mapping strategy. (PubMed id 22119785)1, 2, 3 Christianson J.C.... Kopito R.R. (2012)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7788527)1, 2 Nagase T....Kotani H. (1995)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
- Proteomic identification of common SCF ubiquitin ligas e FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
|
External Searches for EMC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing EMC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing EMC1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing EMC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for EMC1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for EMC1 gene: Search GeneIP for patents involving EMC1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for EMC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EMC1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EMC1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EMC1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EMC1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EMC1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EMC1 |
| |
 |  |  |  | |
| | | Search Tocris compounds for EMC1 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMC1 |
|  |  |  | | | ThermoFisher Antibody for EMC1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMC1 |
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