Seroatlas · Human Serome Atlas

EMC1

ER membrane protein complex subunit 1

Also known as: EMC1_HUMAN, KIAA0090

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N766
Gene: EMC1
Ensembl: ENSG00000127463
Chromosome: 1
Canonical length: 993 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

993 residues, UniProt reviewed canonical sequence.

>Q8N766|EMC1
     1  MAAEWASRFW LWATLLIPAA AVYEDQVGKF DWRQQYVGKV KFASLEFSPG SKKLVVATEK
    61  NVIAALNSRT GEILWRHVDK GTAEGAVDAM LLHGQDVITV SNGGRIMRSW ETNIGGLNWE
   121  ITLDSGSFQA LGLVGLQESV RYIAVLKKTT LALHHLSSGH LKWVEHLPES DSIHYQMVYS
   181  YGSGVVWALG VVPFSHVNIV KFNVEDGEIV QQVRVSTPWL QHLSGACGVV DEAVLVCPDP
   241  SSRSLQTLAL ETEWELRQIP LQSLDLEFGS GFQPRVLPTQ PNPVDASRAQ FFLHLSPSHY
   301  ALLQYHYGTL SLLKNFPQTA LVSFATTGEK TVAAVMACRN EVQKSSSSED GSMGSFSEKS
   361  SSKDSLACFN QTYTINLYLV ETGRRLLDTT ITFSLEQSGT RPERLYIQVF LKKDDSVGYR
   421  ALVQTEDHLL LFLQQLAGKV VLWSREESLA EVVCLEMVDL PLTGAQAELE GEFGKKADGL
   481  LGMFLKRLSS QLILLQAWTS HLWKMFYDAR KPRSQIKNEI NIDTLARDEF NLQKMMVMVT
   541  ASGKLFGIES SSGTILWKQY LPNVKPDSSF KLMVQRTTAH FPHPPQCTLL VKDKESGMSS
   601  LYVFNPIFGK WSQVAPPVLK RPILQSLLLP VMDQDYAKVL LLIDDEYKVT AFPATRNVLR
   661  QLHELAPSIF FYLVDAEQGR LCGYRLRKDL TTELSWELTI PPEVQRIVKV KGKRSSEHVH
   721  SQGRVMGDRS VLYKSLNPNL LAVVTESTDA HHERTFIGIF LIDGVTGRII HSSVQKKAKG
   781  PVHIVHSENW VVYQYWNTKA RRNEFTVLEL YEGTEQYNAT AFSSLDRPQL PQVLQQSYIF
   841  PSSISAMEAT ITERGITSRH LLIGLPSGAI LSLPKALLDP RRPEIPTEQS REENLIPYSP
   901  DVQIHAERFI NYNQTVSRMR GIYTAPSGLE STCLVVAYGL DIYQTRVYPS KQFDVLKDDY
   961  DYVLISSVLF GLVFATMITK RLAQVKLLNR AWR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EMC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

retina: 24 nTPM
placenta: 23 nTPM
smooth muscle: 18 nTPM
skeletal muscle: 17 nTPM
parathyroid gland: 15 nTPM
ovary: 14 nTPM

Single-cell type

epicardial cells: 84 nCPM
extravillous trophoblasts: 57 nCPM
rod photoreceptor cells: 56 nCPM
cardiomyocytes: 56 nCPM
cytotrophoblasts: 48 nCPM
migrating cytotrophoblasts: 42 nCPM

Immune cell

NK-cell: 25 nTPM
non-classical monocyte: 15 nTPM
myeloid DC: 15 nTPM
classical monocyte: 14 nTPM
intermediate monocyte: 11 nTPM
total PBMC: 10 nTPM

Brain region

hypothalamus: 42 nTPM
cerebral cortex: 34 nTPM
pons: 34 nTPM
basal ganglia: 33 nTPM
midbrain: 33 nTPM
thalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EMC1.

Disease | AllUniProt

Conditions EMC1 is implicated in, by any mechanism.

Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) MIM:616875

Disease | GeneticClinVar

100 pathogenic / likely-pathogenic of 1,419 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cerebellar atrophy, visual impairment, and psychomotor retardation
Inborn genetic diseases
Retinal dystrophy
EMC1-related disorder
Congenital anomaly of kidney and urinary tract

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.01
gnomAD pLI: 0
gnomAD missense Z: 1.35
DepMap mean gene effect: -0.39
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Quinoprotein alcohol dehydrogenase-like superfamily
WD40/YVTN repeat-like-containing domain superfamily
ER membrane protein complex subunit 1, C-terminal
ER membrane protein complex subunit 1
EMC1, first beta-propeller domain
ER membrane protein complex subunit 1, second beta-propeller
EMC1 N-terminal beta-propeller domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EMC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EMC1 as an antibody target. Whether an autoantibody or antibody against EMC1 could matter depends on whether native EMC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EMC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EMC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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