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Entry version 146 (11 Dec 2019)
Sequence version 1 (01 Oct 2002)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.27.1.1 the endoplasmic reticulum membrane protein insertion complex (emc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ER membrane protein complex subunit 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EMC1
Synonyms:KIAA0090
ORF Names:PSEC0263
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000127463.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28957 EMC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616846 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N766

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 958ExtracellularSequence analysisAdd BLAST937
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei959 – 979HelicalSequence analysisAdd BLAST21
Topological domaini980 – 993CytoplasmicSequence analysisAdd BLAST14

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07691582T → M in CAVIPMR. 1 PublicationCorresponds to variant dbSNP:rs869320625EnsemblClinVar.1
Natural variantiVAR_076917471G → R in CAVIPMR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253819EnsemblClinVar.1
Natural variantiVAR_076918868G → R in CAVIPMR. 1 PublicationCorresponds to variant dbSNP:rs869320626EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
23065

MalaCards human disease database

More...
MalaCardsi
EMC1
MIMi616875 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000127463

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671634

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N766 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EMC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74751081

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000024859722 – 993ER membrane protein complex subunit 1Add BLAST972

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi913N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N766

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N766

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N766

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N766

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N766

PeptideAtlas

More...
PeptideAtlasi
Q8N766

PRoteomics IDEntifications database

More...
PRIDEi
Q8N766

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72266 [Q8N766-1]
72267 [Q8N766-2]
72268 [Q8N766-3]
72269 [Q8N766-4]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q8N766-3 [Q8N766-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1223

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8N766

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N766

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q8N766

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000127463 Expressed in 222 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N766 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N766 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA048904

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the ER membrane protein complex (EMC).

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116700, 59 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N766, 31 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000420608

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N766 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EMC1 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2103 Eukaryota
ENOG410XPCR LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002461

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231676

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N766

KEGG Orthology (KO)

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KOi
K23562

Identification of Orthologs from Complete Genome Data

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OMAi
HHWQLYL

Database of Orthologous Groups

More...
OrthoDBi
1017611at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N766

TreeFam database of animal gene trees

More...
TreeFami
TF313012

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026895 EMC1
IPR011678 EMC1_C
IPR002372 PQQ_repeat
IPR011047 Quinoprotein_ADH-like_supfam

The PANTHER Classification System

More...
PANTHERi
PTHR21573 PTHR21573, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07774 EMC1_C, 1 hit
PF13360 PQQ_2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50998 SSF50998, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4E3H7C4E3_HUMAN
ER membrane protein complex subunit...
EMC1
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5A2H7C5A2_HUMAN
ER membrane protein complex subunit...
EMC1
178Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5TG59Q5TG59_HUMAN
ER membrane protein complex subunit...
EMC1
75Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A286YEW0A0A286YEW0_HUMAN
ER membrane protein complex subunit...
EMC1
190Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs869320625EnsemblClinVar.1
Natural variantiVAR_076916144A → T Found in patients with retinitis pigmentosa; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869320623EnsemblClinVar.1
Natural variantiVAR_027359295L → S. Corresponds to variant dbSNP:rs3850531Ensembl.1
Natural variantiVAR_027360345S → T2 PublicationsCorresponds to variant dbSNP:rs709683Ensembl.1
Natural variantiVAR_027361347S → N1 PublicationCorresponds to variant dbSNP:rs709682Ensembl.1
Natural variantiVAR_076917471G → R in CAVIPMR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879253819EnsemblClinVar.1
Natural variantiVAR_076918868G → R in CAVIPMR. 1 PublicationCorresponds to variant dbSNP:rs869320626EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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 No translation available.
CH471134 Genomic DNA Translation: EAW94871.1
BC034589 mRNA Translation: AAH34589.1
D42044 mRNA Translation: BAA07645.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS190.1 [Q8N766-1]
CCDS59190.1 [Q8N766-4]
CCDS59191.1 [Q8N766-2]

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000375199; ENSP00000364345; ENSG00000127463 [Q8N766-2]
ENST00000375208; ENSP00000364354; ENSG00000127463 [Q8N766-4]
ENST00000477853; ENSP00000420608; ENSG00000127463 [Q8N766-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23065

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23065

UCSC genome browser

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UCSCi
uc001bbo.5 human [Q8N766-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 No translation available.
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]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi116700, 59 interactors
IntActiQ8N766, 31 interactors
STRINGi9606.ENSP00000420608

Protein family/group databases

TCDBi3.A.27.1.1 the endoplasmic reticulum membrane protein insertion complex (emc) family

PTM databases

GlyConnecti1223
iPTMnetiQ8N766
PhosphoSitePlusiQ8N766
SwissPalmiQ8N766

Polymorphism and mutation databases

BioMutaiEMC1
DMDMi74751081

Proteomic databases

EPDiQ8N766
jPOSTiQ8N766
MassIVEiQ8N766
MaxQBiQ8N766
PaxDbiQ8N766
PeptideAtlasiQ8N766
PRIDEiQ8N766
ProteomicsDBi72266 [Q8N766-1]
72267 [Q8N766-2]
72268 [Q8N766-3]
72269 [Q8N766-4]
TopDownProteomicsiQ8N766-3 [Q8N766-3]

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

Comparative Toxicogenomics Database

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CTDi
23065
DisGeNETi23065
EuPathDBiHostDB:ENSG00000127463.13

GeneCards: human genes, protein and diseases

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GeneCardsi
EMC1
HGNCiHGNC:28957 EMC1
HPAiHPA048904
MalaCardsiEMC1
MIMi616846 gene
616875 phenotype
neXtProtiNX_Q8N766
OpenTargetsiENSG00000127463
Orphaneti480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
PharmGKBiPA142671634

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2103 Eukaryota
ENOG410XPCR LUCA
GeneTreeiENSGT00390000002461
HOGENOMiHOG000231676
InParanoidiQ8N766
KOiK23562
OMAiHHWQLYL
OrthoDBi1017611at2759
PhylomeDBiQ8N766
TreeFamiTF313012

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EMC1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23065
PharosiQ8N766 Tbio

Protein Ontology

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PROi
PR:Q8N766
RNActiQ8N766 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000127463 Expressed in 222 organ(s), highest expression level in frontal cortex
ExpressionAtlasiQ8N766 baseline and differential
GenevisibleiQ8N766 HS

Family and domain databases

InterProiView protein in InterPro
IPR026895 EMC1
IPR011678 EMC1_C
IPR002372 PQQ_repeat
IPR011047 Quinoprotein_ADH-like_supfam
PANTHERiPTHR21573 PTHR21573, 1 hit
PfamiView protein in Pfam
PF07774 EMC1_C, 1 hit
PF13360 PQQ_2, 1 hit
SUPFAMiSSF50998 SSF50998, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEMC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N766
Secondary accession number(s): A8K6F3
, Q14700, Q5TG62, Q63HL0, Q63HL3, Q8NBH8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: October 1, 2002
Last modified: December 11, 2019
This is version 146 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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