Gene
EMC1
ER membrane protein complex subunit 1
- HGNC 28957↗(opens in a new tab)
- Ensembl gene ENSG00000127463↗(opens in a new tab)
- NCBI Gene 23065↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.13
- Coordinates
- Chromosome 1: 19,215,660–19,251,524 (GRCh38)
- Exons
- 23 exons across 35.9 kb
- Protein
- 993 amino acids
- Previous symbols
- KIAA0090
- MANE Select transcript
- ENST00000477853.6NM_015047.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads EMC1 yet. The test sequences your whole genome, so your data includes it all the same.
How EMC1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.6 kb of the gene's 35.9 kb; 2,982 of those bases code for the protein.
How a genome test reads EMC1
22
positions in EMC1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 35.9 kb of EMC1, introns included, not only the 6.6 kb of exons.
Traits linked to EMC1
The Human Phenotype Ontology lists these as features of the rare conditions EMC1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Deeply set eye
- Abnormal electroretinogram
- Abnormality of visual evoked potentials
- Astigmatism
- Cerebral visual impairment
- Close sighted
- Cross-eyed
- Inward turning cross eyed
Show 3 more traits
Abnormality of head or neck
- Abnormal facial shape
- Receding chin
- Development of small head that was not present at birth
- Gum enlargement
- Progressively abnormally small cranium
- Short philtrum
- Little lower jaw
- Low frontal hairline
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). EMC1 gene: ER membrane protein complex subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/emc1
Dante Labs. EMC1 gene: ER membrane protein complex subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/emc1
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