Details for: EMC1

Gene ID: 23065

Symbol: EMC1

Ensembl ID: ENSG00000127463

Description: ER membrane protein complex subunit 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.48
    Marker Score: 2,581
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.1
    Marker Score: 329
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.01
    Marker Score: 3,971
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,740
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,965
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,398
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.95
    Marker Score: 1,465
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,401
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 482
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.93
    Marker Score: 264
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.93
    Marker Score: 8,812
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,708
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.89
    Marker Score: 7,669
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,292
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4,907
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.86
    Marker Score: 52,675
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.79
    Marker Score: 1,054
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.79
    Marker Score: 12,345
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.79
    Marker Score: 7,414
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,264
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.78
    Marker Score: 3,164
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.77
    Marker Score: 971
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.77
    Marker Score: 7,934
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 578
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.76
    Marker Score: 431
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 301
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.75
    Marker Score: 2,889
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.73
    Marker Score: 26,765
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.72
    Marker Score: 389
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.7
    Marker Score: 10,471
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.7
    Marker Score: 26,537
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2,896
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.68
    Marker Score: 822
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.68
    Marker Score: 459
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 616
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.67
    Marker Score: 271
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.67
    Marker Score: 13,353
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.65
    Marker Score: 703
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.65
    Marker Score: 693
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.65
    Marker Score: 4,973
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.63
    Marker Score: 2,631
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.63
    Marker Score: 1,800
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.63
    Marker Score: 345
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.62
    Marker Score: 308
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.61
    Marker Score: 1,160
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.61
    Marker Score: 1,432
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.58
    Marker Score: 143
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.58
    Marker Score: 201
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.57
    Marker Score: 19,680
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.56
    Marker Score: 377
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.56
    Marker Score: 596
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.56
    Marker Score: 1,269
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.55
    Marker Score: 364
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.55
    Marker Score: 569
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.54
    Marker Score: 2,643
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 429
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.54
    Marker Score: 11,419
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.53
    Marker Score: 364
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.53
    Marker Score: 2,284
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.53
    Marker Score: 17,869
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.52
    Marker Score: 350
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.52
    Marker Score: 509
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.52
    Marker Score: 217
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.52
    Marker Score: 328
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.51
    Marker Score: 603
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.51
    Marker Score: 738
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.51
    Marker Score: 1,040
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.51
    Marker Score: 1,067
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.51
    Marker Score: 134
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5
    Marker Score: 28,114
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5
    Marker Score: 5,646
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.5
    Marker Score: 3,260
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.5
    Marker Score: 446
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.5
    Marker Score: 458
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.5
    Marker Score: 1,257
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.5
    Marker Score: 313
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.49
    Marker Score: 478
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.49
    Marker Score: 637
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.49
    Marker Score: 156
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.49
    Marker Score: 333
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.48
    Marker Score: 1,267
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.48
    Marker Score: 139
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.48
    Marker Score: 710
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.48
    Marker Score: 307
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.48
    Marker Score: 502
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.47
    Marker Score: 356
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.47
    Marker Score: 4,762
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.47
    Marker Score: 1,277
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.47
    Marker Score: 722
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.47
    Marker Score: 292
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.47
    Marker Score: 2,801
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.46
    Marker Score: 2,757
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.46
    Marker Score: 268
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.46
    Marker Score: 186
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.45
    Marker Score: 1,080
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.45
    Marker Score: 209

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Membrane protein complex subunit:** EMC1 is a component of the ER membrane protein complex, which is essential for the proper insertion of proteins into the ER membrane. 2. **Stop-transfer membrane-anchor sequence:** EMC1 contains a stop-transfer sequence, which allows it to insert into the ER membrane by anchoring to the membrane. 3. **Tail-anchored membrane protein insertion:** EMC1 facilitates the insertion of tail-anchored membrane proteins into the ER membrane. 4. **Protein binding:** EMC1 interacts with other proteins, modulating their activity and localization within the cell. 5. **Highly expressed in specific cell types:** EMC1 is expressed in a range of cell types, including germ cells, photoreceptor cells, and stem cells, highlighting its importance in development and tissue homeostasis. **Pathways and Functions:** 1. **Endoplasmic reticulum membrane:** EMC1 is involved in the integration of proteins into the ER membrane, regulating their insertion and localization. 2. **Membrane insertion:** EMC1 facilitates the insertion of proteins into the ER membrane, which is essential for protein folding, modification, and transport. 3. **Protein binding:** EMC1 interacts with other proteins, modulating their activity and localization within the cell. 4. **Development and differentiation:** EMC1 is highly expressed in specific cell types, such as germ cells and photoreceptor cells, suggesting its role in development and differentiation. 5. **Tissue homeostasis:** EMC1's involvement in maintaining cellular homeostasis and regulating protein insertion and localization highlights its importance in tissue homeostasis. **Clinical Significance:** Dysregulation of EMC1 has been implicated in various diseases, including: 1. **Neurological disorders:** EMC1's role in regulating protein insertion and localization in neurons suggests its potential involvement in neurological disorders, such as neurodegenerative diseases. 2. **Cancer:** EMC1's expression in stem cells and its role in maintaining tissue homeostasis imply its potential involvement in cancer development and progression. 3. **Developmental disorders:** EMC1's critical role in development and differentiation highlights its potential involvement in developmental disorders, such as congenital abnormalities. In conclusion, EMC1 is a multifunctional gene that plays a crucial role in maintaining cellular homeostasis and regulating various physiological processes. Its dysregulation has been implicated in various diseases, emphasizing the need for further research into its immunological significance and potential therapeutic applications.

Genular Protein ID: 4025264101

Symbol: EMC1_HUMAN

Name: ER membrane protein complex subunit 1

UniProtKB Accession Codes:

Q8N766 A8K6F3 Q14700 Q5TG62 Q63HL0 Q63HL3 Q8NBH8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 EMDB 3 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 RefSeq 4 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 16303743

Title: 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

DOI: 10.1093/dnares/12.2.117

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7788527

Title: 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

DOI: 10.1093/dnares/2.1.37

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22119785

Title: Defining human ERAD networks through an integrative mapping strategy.

PubMed ID: 22119785

DOI: 10.1038/ncb2383

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30415835

Title: EMC Is Required to Initiate Accurate Membrane Protein Topogenesis.

PubMed ID: 30415835

DOI: 10.1016/j.cell.2018.10.009

PubMed ID: 29809151

Title: The ER membrane protein complex interacts cotranslationally to enable biogenesis of multipass membrane proteins.

PubMed ID: 29809151

DOI: 10.7554/elife.37018

PubMed ID: 29242231

Title: The ER membrane protein complex is a transmembrane domain insertase.

PubMed ID: 29242231

DOI: 10.1126/science.aao3099

PubMed ID: 32459176

Title: The architecture of EMC reveals a path for membrane protein insertion.

PubMed ID: 32459176

DOI: 10.7554/elife.57887

PubMed ID: 32439656

Title: Structural basis for membrane insertion by the human ER membrane protein complex.

PubMed ID: 32439656

DOI: 10.1126/science.abb5008

PubMed ID: 26942288

Title: Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy.

PubMed ID: 26942288

DOI: 10.1016/j.ajhg.2016.01.011

PubMed ID: 23105016

Title: Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PubMed ID: 23105016

DOI: 10.1101/gr.144105.112

Sequence Information:

  • Length: 993
  • Mass: 111759
  • Checksum: C61B67802052A8A7
  • Sequence:
    • MAAEWASRFW LWATLLIPAA AVYEDQVGKF DWRQQYVGKV KFASLEFSPG SKKLVVATEK 
NVIAALNSRT GEILWRHVDK GTAEGAVDAM LLHGQDVITV SNGGRIMRSW ETNIGGLNWE 
ITLDSGSFQA LGLVGLQESV RYIAVLKKTT LALHHLSSGH LKWVEHLPES DSIHYQMVYS 
YGSGVVWALG VVPFSHVNIV KFNVEDGEIV QQVRVSTPWL QHLSGACGVV DEAVLVCPDP 
SSRSLQTLAL ETEWELRQIP LQSLDLEFGS GFQPRVLPTQ PNPVDASRAQ FFLHLSPSHY 
ALLQYHYGTL SLLKNFPQTA LVSFATTGEK TVAAVMACRN EVQKSSSSED GSMGSFSEKS 
SSKDSLACFN QTYTINLYLV ETGRRLLDTT ITFSLEQSGT RPERLYIQVF LKKDDSVGYR 
ALVQTEDHLL LFLQQLAGKV VLWSREESLA EVVCLEMVDL PLTGAQAELE GEFGKKADGL 
LGMFLKRLSS QLILLQAWTS HLWKMFYDAR KPRSQIKNEI NIDTLARDEF NLQKMMVMVT 
ASGKLFGIES SSGTILWKQY LPNVKPDSSF KLMVQRTTAH FPHPPQCTLL VKDKESGMSS 
LYVFNPIFGK WSQVAPPVLK RPILQSLLLP VMDQDYAKVL LLIDDEYKVT AFPATRNVLR 
QLHELAPSIF FYLVDAEQGR LCGYRLRKDL TTELSWELTI PPEVQRIVKV KGKRSSEHVH 
SQGRVMGDRS VLYKSLNPNL LAVVTESTDA HHERTFIGIF LIDGVTGRII HSSVQKKAKG 
PVHIVHSENW VVYQYWNTKA RRNEFTVLEL YEGTEQYNAT AFSSLDRPQL PQVLQQSYIF 
PSSISAMEAT ITERGITSRH LLIGLPSGAI LSLPKALLDP RRPEIPTEQS REENLIPYSP 
DVQIHAERFI NYNQTVSRMR GIYTAPSGLE STCLVVAYGL DIYQTRVYPS KQFDVLKDDY 
DYVLISSVLF GLVFATMITK RLAQVKLLNR AWR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.