Human Gene EMC1 (ENST00000477853.6_11) from GENCODE V47lift37

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Description: ER membrane protein complex subunit 1, transcript variant 1 (from RefSeq NM_015047.3)
Gencode Transcript: ENST00000477853.6_11
Gencode Gene: ENSG00000127463.16_20
Transcript (Including UTRs)
Position: hg19 chr1:19,542,154-19,578,018 Size: 35,865 Total Exon Count: 23 Strand: -
Coding Region
Position: hg19 chr1:19,545,797-19,578,003 Size: 32,207 Coding Exon Count: 23

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Other Names	GeneReviews	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:19,542,154-19,578,018)			mRNA (may differ from genome)		Protein (993 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: EMC1_HUMAN 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.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

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 D001564 Benzo(a)pyrene D003300 Copper D005472 Fluorouracil D005485 Flutamide D013749 Tetrachlorodibenzodioxin C039281 furan C004648 testosterone enanthate

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 11.39 RPKM in Cells - Cultured 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

Region	Fold Energy	Bases	Energy/Base	Display As
3' UTR	-1324.50	3643	-0.364	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 - ER membrane protein complex subunit 1, C-terminal
PF13360 - PQQ-like domain

SCOP Domains:
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q8N766


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

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.

Other Names for This Gene


	Alternate Gene Symbols: A8K6F3, EMC1_HUMAN, ENST00000477853.1, ENST00000477853.2, ENST00000477853.3, ENST00000477853.4, ENST00000477853.5, KIAA0090, NM_015047, PSEC0263, Q14700, Q5TG62, Q63HL0, Q63HL3, Q8N766, Q8NBH8, uc321wga.1, uc321wga.2 UCSC ID: ENST00000477853.6_11 RefSeq Accession: NM_015047.3 Protein: Q8N766 (aka EMC1_HUMAN)

GeneReviews for This Gene


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

Gene Model Information


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Methods, Credits, and Use Restrictions


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