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Protein

ER membrane protein complex subunit 1

Gene

EMC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 958937ExtracellularSequence analysisAdd
BLAST
Transmembranei959 – 97921HelicalSequence analysisAdd
BLAST
Topological domaini980 – 99314CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671634.

Polymorphism and mutation databases

DMDMi74751081.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence analysisAdd
BLAST
Chaini22 – 993972ER membrane protein complex subunit 1PRO_0000248597Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi913 – 9131N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ8N766.
PhosphoSiteiQ8N766.
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 interactions.
IntActiQ8N766. 13 interactions.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti9 – 91F → L in CAH56140 (PubMed:14702039).Curated
Sequence conflicti240 – 2401P → L in CAH56165 (PubMed:14702039).Curated
Sequence conflicti469 – 4691L → P in CAH56165 (PubMed:14702039).Curated
Sequence conflicti570 – 5701F → Y in BAC11702 (PubMed:16303743).Curated
Sequence conflicti724 – 7241R → H in BAC11702 (PubMed:16303743).Curated
Sequence conflicti824 – 8241S → F in BAC11702 (PubMed:16303743).Curated
Sequence conflicti982 – 9832LA → PV in CAH56165 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti295 – 2951L → S.
Corresponds to variant rs3850531 [ dbSNP | Ensembl ].
VAR_027359
Natural varianti345 – 3451S → T.2 Publications
Corresponds to variant rs709683 [ dbSNP | Ensembl ].
VAR_027360
Natural varianti347 – 3471S → N.1 Publication
Corresponds to variant rs709682 [ dbSNP | Ensembl ].
VAR_027361

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei74 – 9623LWRHV…LHGQD → Y in isoform 4. 1 PublicationVSP_020327Add
BLAST
Alternative sequencei343 – 3431Missing in isoform 2. 1 PublicationVSP_020328
Alternative sequencei437 – 4371Missing in isoform 3. 1 PublicationVSP_020329

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 interactions.
IntActiQ8N766. 13 interactions.
STRINGi9606.ENSP00000420608.

PTM databases

iPTMnetiQ8N766.
PhosphoSiteiQ8N766.
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.
GeneCardsiEMC1.
HGNCiHGNC:28957. EMC1.
HPAiHPA048904.
neXtProtiNX_Q8N766.
PharmGKBiPA142671634.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii23065.
PROiQ8N766.

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: September 7, 2016
This is version 115 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. 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.