Human Gene EMC1 (uc001bbo.4) Description and Page Index
  Description: Homo sapiens ER membrane protein complex subunit 1 (EMC1), transcript variant 1, mRNA.
RefSeq Summary (NM_015047): This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012].
Transcript (Including UTRs)
   Position: hg19 chr1:19,542,158-19,578,053 Size: 35,896 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr1:19,545,797-19,578,003 Size: 32,207 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:19,542,158-19,578,053)mRNA (may differ from genome)Protein (993 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=ER membrane protein complex subunit 1; Flags: Precursor;
SUBUNIT: Component of the ER membrane protein complex (EMC).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
SIMILARITY: Belongs to the EMC1 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: EMC1
Diseases sorted by gene-association score: cerebellar atrophy, visual impairment, and psychomotor retardation* (931), urbach-wiethe disease (11), scoliosis (8), chickenpox (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.39 RPKM in Cells - Transformed fibroblasts
Total median expression: 239.88 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.4050-0.468 Picture PostScript Text
3' UTR -1373.233639-0.377 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011678 - DUF1620
IPR026895 - EMC1
IPR011047 - Quinonprotein_ADH-like

Pfam Domains:
PF07774 - Protein of unknown function (DUF1620)
PF13360 - PQQ-like domain

SCOP Domains:
50998 - Quinoprotein alcohol dehydrogenase-like

ModBase Predicted Comparative 3D Structure on Q8N766
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0034975 protein folding in endoplasmic reticulum

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0072546 ER membrane protein complex

-  Descriptions from all associated GenBank mRNAs
  BX648708 - Homo sapiens mRNA; cDNA DKFZp686M0947 (from clone DKFZp686M0947).
JD388123 - Sequence 369147 from Patent EP1572962.
JD388124 - Sequence 369148 from Patent EP1572962.
AF086373 - Homo sapiens full length insert cDNA clone ZD67E01.
JD421943 - Sequence 402967 from Patent EP1572962.
JD446401 - Sequence 427425 from Patent EP1572962.
JD410732 - Sequence 391756 from Patent EP1572962.
JD452943 - Sequence 433967 from Patent EP1572962.
JD074913 - Sequence 55937 from Patent EP1572962.
JD395542 - Sequence 376566 from Patent EP1572962.
JD414735 - Sequence 395759 from Patent EP1572962.
JD397025 - Sequence 378049 from Patent EP1572962.
JD311583 - Sequence 292607 from Patent EP1572962.
JD172886 - Sequence 153910 from Patent EP1572962.
JD476695 - Sequence 457719 from Patent EP1572962.
JD094078 - Sequence 75102 from Patent EP1572962.
JD557991 - Sequence 539015 from Patent EP1572962.
JD476694 - Sequence 457718 from Patent EP1572962.
JD120511 - Sequence 101535 from Patent EP1572962.
JD379596 - Sequence 360620 from Patent EP1572962.
JD120510 - Sequence 101534 from Patent EP1572962.
JD535470 - Sequence 516494 from Patent EP1572962.
JD367642 - Sequence 348666 from Patent EP1572962.
JD274632 - Sequence 255656 from Patent EP1572962.
JD388814 - Sequence 369838 from Patent EP1572962.
JD388813 - Sequence 369837 from Patent EP1572962.
JD457398 - Sequence 438422 from Patent EP1572962.
JD457399 - Sequence 438423 from Patent EP1572962.
JD321244 - Sequence 302268 from Patent EP1572962.
JD388812 - Sequence 369836 from Patent EP1572962.
JD457397 - Sequence 438421 from Patent EP1572962.
JD492027 - Sequence 473051 from Patent EP1572962.
JD281433 - Sequence 262457 from Patent EP1572962.
JD492026 - Sequence 473050 from Patent EP1572962.
JD281432 - Sequence 262456 from Patent EP1572962.
JD160799 - Sequence 141823 from Patent EP1572962.
JD236259 - Sequence 217283 from Patent EP1572962.
JD090442 - Sequence 71466 from Patent EP1572962.
JD359930 - Sequence 340954 from Patent EP1572962.
AK124740 - Homo sapiens cDNA FLJ42750 fis, clone BRAWH3000410.
D42044 - Homo sapiens KIAA0090 mRNA, partial cds.
JD329862 - Sequence 310886 from Patent EP1572962.
BC034589 - Homo sapiens KIAA0090, mRNA (cDNA clone MGC:41898 IMAGE:4831005), complete cds.
AK075563 - Homo sapiens cDNA PSEC0263 fis, clone NT2RP3004541.
JD507169 - Sequence 488193 from Patent EP1572962.
JD294911 - Sequence 275935 from Patent EP1572962.
JD077679 - Sequence 58703 from Patent EP1572962.
JD235655 - Sequence 216679 from Patent EP1572962.
JD245604 - Sequence 226628 from Patent EP1572962.
JD151480 - Sequence 132504 from Patent EP1572962.
JD260244 - Sequence 241268 from Patent EP1572962.
JD290589 - Sequence 271613 from Patent EP1572962.
JD290588 - Sequence 271612 from Patent EP1572962.
AK025853 - Homo sapiens cDNA: FLJ22200 fis, clone HRC01256.
BC016303 - Homo sapiens KIAA0090, mRNA (cDNA clone IMAGE:3831436), containing frame-shift errors.
AK124379 - Homo sapiens cDNA FLJ42388 fis, clone UTERU2037843.
BX648627 - Homo sapiens mRNA; cDNA DKFZp686L08245 (from clone DKFZp686L08245).
JD183601 - Sequence 164625 from Patent EP1572962.
JD263795 - Sequence 244819 from Patent EP1572962.
AK291618 - Homo sapiens cDNA FLJ78659 complete cds.
JD487113 - Sequence 468137 from Patent EP1572962.
JD346867 - Sequence 327891 from Patent EP1572962.
JD536404 - Sequence 517428 from Patent EP1572962.
KJ893323 - Synthetic construct Homo sapiens clone ccsbBroadEn_02717 KIAA0090 gene, encodes complete protein.
AB384435 - Synthetic construct DNA, clone: pF1KA0090, Homo sapiens KIAA0090 gene for KIAA0090 protein, complete cds, without stop codon, in Flexi system.
CU689920 - Synthetic construct Homo sapiens gateway clone IMAGE:100017875 5' read KIAA0090 mRNA.
JD221863 - Sequence 202887 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6F3, EMC1_HUMAN, KIAA0090, NM_015047, NP_055862, PSEC0263, Q14700, Q5TG62, Q63HL0, Q63HL3, Q8N766, Q8NBH8, uc001bbo.3
UCSC ID: uc001bbo.4
RefSeq Accession: NM_015047
Protein: Q8N766 (aka EMC1_HUMAN)
CCDS: CCDS190.1, CCDS59190.1, CCDS59191.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EMC1:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_015047.2
exon count: 23CDS single in 3' UTR: no RNA size: 6690
ORF size: 2982CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6145.00frame shift in genome: no % Coverage: 99.72
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.