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ER membrane protein complex subunit 1 (EMC1)

Homo sapiens — UniProt Q8N766

Gene: EMC1Homo sapiensSwissProt reviewed

Data last refreshed: (UniProt release unknown)

Key facts

ER membrane protein complex subunit 1 (EMC1) is a protein from Homo sapiens identified by UniProt accession Q8N766, 993 residues long. MolForge cross-references it against 0 known binders and 52 disease associations.

  • UniProt accession: Q8N766; gene symbol EMC1.
  • Organism: Homo sapiens.
  • Length: 993 amino acids.
  • Top disease associations (Open Targets): cerebellar atrophy, visual impairment, and psychomotor retardation;, hypotonia, infantile, with psychomotor retardation and characteristic facies and genetic disorder.
  • 3D structure: AlphaFold model available.

Target properties

Protein nameER membrane protein complex subunit 1
UniProt accessionQ8N766
GeneEMC1
OrganismHomo sapiens
Length993 residues
Molecular weight—
EC numbers—
Target class—
Subcellular location—
Keywords—

Druggability

Target tractability assessment (Open Targets + pocket analysis). No approved drug

Druggability tierMEDIUM
Druggability score—
Pocket score—
Max clinical phase—

Disease associations (52)

Diseases linked to this target (Open Targets).

  • cerebellar atrophy, visual impairment, and psychomotor retardation; · score 0.73
  • hypotonia, infantile, with psychomotor retardation and characteristic facies · score 0.53
  • genetic disorder · score 0.47
  • Global developmental delay · score 0.41
  • Cerebellar atrophy · score 0.41
  • Retinal dystrophy · score 0.38
  • global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome · score 0.37
  • autosomal recessive retinitis pigmentosa · score 0.33
  • congenital hydronephrosis · score 0.27
  • congenital anomaly of kidney and urinary tract · score 0.27

3D Structure (1)

Experimental (PDB) and predicted (AlphaFold) structures for this protein.

StructureSourceMethodMean pLDDTResolution (Å)
AF-Q8N766-F1alphafoldPREDICTED87.43—

Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q8N766.

Amino-acid sequence (993 residues)

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

Frequently asked questions

Answers are generated from the structured data on this page, not written by hand.

Which diseases are associated with EMC1?

The strongest Open Targets associations for EMC1 are cerebellar atrophy, visual impairment, and psychomotor retardation;, hypotonia, infantile, with psychomotor retardation and characteristic facies, genetic disorder, Global developmental delay and Cerebellar atrophy.

How long is the EMC1 protein?

The Homo sapiens EMC1 protein (UniProt Q8N766) is 993 amino acids long.

Browse: Targets: E · all protein targets A–Z · drugs A–Z.

Sources

How this page is built: methodology · editorial policy & corrections.

For research and educational use only — not medical advice. This page is compiled automatically from public databases. It is not written or reviewed by a clinician. Do not start, stop or change any treatment based on it; consult a qualified healthcare professional. Spotted an error? See our corrections policy or email hello@molforge.ai.

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Quick facts

UniProtQ8N766
GeneEMC1
OrganismHomo sapiens
Length993
Binders0
Diseases52
View on UniProt