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Protein

ER membrane protein complex subunit 1

Gene

EMC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127463-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
ER membrane protein complex subunit 1
Gene namesi
Name:EMC1
Synonyms:KIAA0090
ORF Names:PSEC0263
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:28957. EMC1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 958ExtracellularSequence analysisAdd BLAST937
Transmembranei959 – 979HelicalSequence analysisAdd BLAST21
Topological domaini980 – 993CytoplasmicSequence analysisAdd BLAST14

GO - Cellular componenti

  • ER membrane protein complex Source: UniProtKB
  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features.
See also OMIM:616875
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07691582T → M in CAVIPMR. 1 Publication1
Natural variantiVAR_076917471G → R in CAVIPMR; unknown pathological significance. 1 Publication1
Natural variantiVAR_076918868G → R in CAVIPMR. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi23065.
MIMi616875. phenotype.
OpenTargetsiENSG00000127463.
PharmGKBiPA142671634.

Polymorphism and mutation databases

DMDMi74751081.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000024859722 – 993ER membrane protein complex subunit 1Add BLAST972

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi913N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8N766.
MaxQBiQ8N766.
PaxDbiQ8N766.
PeptideAtlasiQ8N766.
PRIDEiQ8N766.
TopDownProteomicsiQ8N766-3. [Q8N766-3]

PTM databases

iPTMnetiQ8N766.
PhosphoSitePlusiQ8N766.
SwissPalmiQ8N766.

Expressioni

Gene expression databases

BgeeiENSG00000127463.
CleanExiHS_KIAA0090.
ExpressionAtlasiQ8N766. baseline and differential.
GenevisibleiQ8N766. HS.

Organism-specific databases

HPAiHPA048904.

Interactioni

Subunit structurei

Component of the ER membrane protein complex (EMC).1 Publication

Protein-protein interaction databases

BioGridi116700. 37 interactors.
IntActiQ8N766. 13 interactors.
STRINGi9606.ENSP00000420608.

Structurei

3D structure databases

ProteinModelPortaliQ8N766.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the EMC1 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2103. Eukaryota.
ENOG410XPCR. LUCA.
GeneTreeiENSGT00390000002461.
HOGENOMiHOG000231676.
HOVERGENiHBG057156.
InParanoidiQ8N766.
OMAiIDQHRGN.
OrthoDBiEOG091G05N4.
PhylomeDBiQ8N766.
TreeFamiTF313012.

Family and domain databases

Gene3Di2.140.10.10. 1 hit.
InterProiIPR011678. DUF1620.
IPR026895. EMC1.
IPR002372. PQQ_repeat.
IPR027295. Quinoprotein_ADH-like_fam.
IPR011047. Quinoprotein_ADH-like_supfam.
[Graphical view]
PANTHERiPTHR21573:SF0. PTHR21573:SF0. 2 hits.
PfamiPF07774. DUF1620. 1 hit.
PF13360. PQQ_2. 1 hit.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N766-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAEWASRFW LWATLLIPAA AVYEDQVGKF DWRQQYVGKV KFASLEFSPG
60 70 80 90 100
SKKLVVATEK NVIAALNSRT GEILWRHVDK GTAEGAVDAM LLHGQDVITV
110 120 130 140 150
SNGGRIMRSW ETNIGGLNWE ITLDSGSFQA LGLVGLQESV RYIAVLKKTT
160 170 180 190 200
LALHHLSSGH LKWVEHLPES DSIHYQMVYS YGSGVVWALG VVPFSHVNIV
210 220 230 240 250
KFNVEDGEIV QQVRVSTPWL QHLSGACGVV DEAVLVCPDP SSRSLQTLAL
260 270 280 290 300
ETEWELRQIP LQSLDLEFGS GFQPRVLPTQ PNPVDASRAQ FFLHLSPSHY
310 320 330 340 350
ALLQYHYGTL SLLKNFPQTA LVSFATTGEK TVAAVMACRN EVQKSSSSED
360 370 380 390 400
GSMGSFSEKS SSKDSLACFN QTYTINLYLV ETGRRLLDTT ITFSLEQSGT
410 420 430 440 450
RPERLYIQVF LKKDDSVGYR ALVQTEDHLL LFLQQLAGKV VLWSREESLA
460 470 480 490 500
EVVCLEMVDL PLTGAQAELE GEFGKKADGL LGMFLKRLSS QLILLQAWTS
510 520 530 540 550
HLWKMFYDAR KPRSQIKNEI NIDTLARDEF NLQKMMVMVT ASGKLFGIES
560 570 580 590 600
SSGTILWKQY LPNVKPDSSF KLMVQRTTAH FPHPPQCTLL VKDKESGMSS
610 620 630 640 650
LYVFNPIFGK WSQVAPPVLK RPILQSLLLP VMDQDYAKVL LLIDDEYKVT
660 670 680 690 700
AFPATRNVLR QLHELAPSIF FYLVDAEQGR LCGYRLRKDL TTELSWELTI
710 720 730 740 750
PPEVQRIVKV KGKRSSEHVH SQGRVMGDRS VLYKSLNPNL LAVVTESTDA
760 770 780 790 800
HHERTFIGIF LIDGVTGRII HSSVQKKAKG PVHIVHSENW VVYQYWNTKA
810 820 830 840 850
RRNEFTVLEL YEGTEQYNAT AFSSLDRPQL PQVLQQSYIF PSSISAMEAT
860 870 880 890 900
ITERGITSRH LLIGLPSGAI LSLPKALLDP RRPEIPTEQS REENLIPYSP
910 920 930 940 950
DVQIHAERFI NYNQTVSRMR GIYTAPSGLE STCLVVAYGL DIYQTRVYPS
960 970 980 990
KQFDVLKDDY DYVLISSVLF GLVFATMITK RLAQVKLLNR AWR
Length:993
Mass (Da):111,759
Last modified:October 1, 2002 - v1
Checksum:iC61B67802052A8A7
GO
Isoform 2 (identifier: Q8N766-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-343: Missing.

Note: No experimental confirmation available.
Show »
Length:992
Mass (Da):111,631
Checksum:i7ACE2D5FCBAACF2C
GO
Isoform 3 (identifier: Q8N766-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     437-437: Missing.

Show »
Length:992
Mass (Da):111,688
Checksum:iEA7525EB6E7548C9
GO
Isoform 4 (identifier: Q8N766-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-96: LWRHVDKGTAEGAVDAMLLHGQD → Y

Show »
Length:971
Mass (Da):109,421
Checksum:i5DDAB175C9A36164
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9F → L in CAH56140 (PubMed:14702039).Curated1
Sequence conflicti240P → L in CAH56165 (PubMed:14702039).Curated1
Sequence conflicti469L → P in CAH56165 (PubMed:14702039).Curated1
Sequence conflicti570F → Y in BAC11702 (PubMed:16303743).Curated1
Sequence conflicti724R → H in BAC11702 (PubMed:16303743).Curated1
Sequence conflicti824S → F in BAC11702 (PubMed:16303743).Curated1
Sequence conflicti982 – 983LA → PV in CAH56165 (PubMed:14702039).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07691582T → M in CAVIPMR. 1 Publication1
Natural variantiVAR_076916144A → T Found in patients with retinitis pigmentosa; unknown pathological significance. 1 Publication1
Natural variantiVAR_027359295L → S.Corresponds to variant rs3850531dbSNPEnsembl.1
Natural variantiVAR_027360345S → T.2 PublicationsCorresponds to variant rs709683dbSNPEnsembl.1
Natural variantiVAR_027361347S → N.1 PublicationCorresponds to variant rs709682dbSNPEnsembl.1
Natural variantiVAR_076917471G → R in CAVIPMR; unknown pathological significance. 1 Publication1
Natural variantiVAR_076918868G → R in CAVIPMR. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02032774 – 96LWRHV…LHGQD → Y in isoform 4. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_020328343Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_020329437Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK075563 mRNA. Translation: BAC11702.1.
AK291618 mRNA. Translation: BAF84307.1.
BX648627 mRNA. Translation: CAH56140.1.
BX648708 mRNA. Translation: CAH56165.1.
AL035413 Genomic DNA. Translation: CAI22235.1.
AL035413 Genomic DNA. Translation: CAI22236.1.
CH471134 Genomic DNA. Translation: EAW94871.1.
BC034589 mRNA. Translation: AAH34589.1.
D42044 mRNA. Translation: BAA07645.2.
CCDSiCCDS190.1. [Q8N766-1]
CCDS59190.1. [Q8N766-4]
CCDS59191.1. [Q8N766-2]
RefSeqiNP_001258356.1. NM_001271427.1. [Q8N766-2]
NP_001258357.1. NM_001271428.1. [Q8N766-3]
NP_001258358.1. NM_001271429.1. [Q8N766-4]
NP_055862.1. NM_015047.2. [Q8N766-1]
UniGeneiHs.439200.

Genome annotation databases

EnsembliENST00000375199; ENSP00000364345; ENSG00000127463. [Q8N766-2]
ENST00000375208; ENSP00000364354; ENSG00000127463. [Q8N766-4]
ENST00000477853; ENSP00000420608; ENSG00000127463. [Q8N766-1]
GeneIDi23065.
KEGGihsa:23065.
UCSCiuc001bbo.5. human. [Q8N766-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK075563 mRNA. Translation: BAC11702.1.
AK291618 mRNA. Translation: BAF84307.1.
BX648627 mRNA. Translation: CAH56140.1.
BX648708 mRNA. Translation: CAH56165.1.
AL035413 Genomic DNA. Translation: CAI22235.1.
AL035413 Genomic DNA. Translation: CAI22236.1.
CH471134 Genomic DNA. Translation: EAW94871.1.
BC034589 mRNA. Translation: AAH34589.1.
D42044 mRNA. Translation: BAA07645.2.
CCDSiCCDS190.1. [Q8N766-1]
CCDS59190.1. [Q8N766-4]
CCDS59191.1. [Q8N766-2]
RefSeqiNP_001258356.1. NM_001271427.1. [Q8N766-2]
NP_001258357.1. NM_001271428.1. [Q8N766-3]
NP_001258358.1. NM_001271429.1. [Q8N766-4]
NP_055862.1. NM_015047.2. [Q8N766-1]
UniGeneiHs.439200.

3D structure databases

ProteinModelPortaliQ8N766.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116700. 37 interactors.
IntActiQ8N766. 13 interactors.
STRINGi9606.ENSP00000420608.

PTM databases

iPTMnetiQ8N766.
PhosphoSitePlusiQ8N766.
SwissPalmiQ8N766.

Polymorphism and mutation databases

DMDMi74751081.

Proteomic databases

EPDiQ8N766.
MaxQBiQ8N766.
PaxDbiQ8N766.
PeptideAtlasiQ8N766.
PRIDEiQ8N766.
TopDownProteomicsiQ8N766-3. [Q8N766-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375199; ENSP00000364345; ENSG00000127463. [Q8N766-2]
ENST00000375208; ENSP00000364354; ENSG00000127463. [Q8N766-4]
ENST00000477853; ENSP00000420608; ENSG00000127463. [Q8N766-1]
GeneIDi23065.
KEGGihsa:23065.
UCSCiuc001bbo.5. human. [Q8N766-1]

Organism-specific databases

CTDi23065.
DisGeNETi23065.
GeneCardsiEMC1.
HGNCiHGNC:28957. EMC1.
HPAiHPA048904.
MIMi616846. gene.
616875. phenotype.
neXtProtiNX_Q8N766.
OpenTargetsiENSG00000127463.
PharmGKBiPA142671634.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2103. Eukaryota.
ENOG410XPCR. LUCA.
GeneTreeiENSGT00390000002461.
HOGENOMiHOG000231676.
HOVERGENiHBG057156.
InParanoidiQ8N766.
OMAiIDQHRGN.
OrthoDBiEOG091G05N4.
PhylomeDBiQ8N766.
TreeFamiTF313012.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127463-MONOMER.

Miscellaneous databases

GenomeRNAii23065.
PROiQ8N766.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127463.
CleanExiHS_KIAA0090.
ExpressionAtlasiQ8N766. baseline and differential.
GenevisibleiQ8N766. HS.

Family and domain databases

Gene3Di2.140.10.10. 1 hit.
InterProiIPR011678. DUF1620.
IPR026895. EMC1.
IPR002372. PQQ_repeat.
IPR027295. Quinoprotein_ADH-like_fam.
IPR011047. Quinoprotein_ADH-like_supfam.
[Graphical view]
PANTHERiPTHR21573:SF0. PTHR21573:SF0. 2 hits.
PfamiPF07774. DUF1620. 1 hit.
PF13360. PQQ_2. 1 hit.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiEMC1_HUMAN
AccessioniPrimary (citable) accession number: Q8N766
Secondary accession number(s): A8K6F3
, Q14700, Q5TG62, Q63HL0, Q63HL3, Q8NBH8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.