Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 102 (13 Feb 2019)
Sequence version 1 (21 Dec 2004)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Endoplasmic reticulum membrane-associated RNA degradation protein

Gene

ERMARD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

May play a role in neuronal migration during embryonic development.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<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>Keywordsi

Molecular functionDevelopmental protein

<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:
Endoplasmic reticulum membrane-associated RNA degradation protein
Short name:
ER membrane-associated RNA degradation protein
<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:ERMARD
Synonyms:C6orf70
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130023.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21056 ERMARD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615532 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5T6L9

<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; 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 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>Transmembranei390 – 410HelicalSequence analysisAdd BLAST21
Transmembranei587 – 607HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, 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

Periventricular nodular heterotopia 6 (PVNH6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy.
See also OMIM:615544
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_070433377I → N in PVNH6; may decrease protein stability. 1 PublicationCorresponds to variant dbSNP:rs398122410Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55780

MalaCards human disease database

More...
MalaCardsi
ERMARD
MIMi615544 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130023

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

More...
Orphaneti
75857 6q terminal deletion syndrome
98892 Periventricular nodular heterotopia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134884522

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ERMARD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74745242

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002956261 – 678Endoplasmic reticulum membrane-associated RNA degradation proteinAdd BLAST678

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5T6L9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5T6L9

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

More...
PaxDbi
Q5T6L9

PeptideAtlas

More...
PeptideAtlasi
Q5T6L9

PRoteomics IDEntifications database

More...
PRIDEi
Q5T6L9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
64597
64598 [Q5T6L9-2]
64599 [Q5T6L9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5T6L9

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

More...
PhosphoSitePlusi
Q5T6L9

<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
ENSG00000130023 Expressed in 195 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5T6L9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5T6L9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041741

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120895, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355735

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5T6L9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHQ8 Eukaryota
ENOG4111M8T LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001024

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111557

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG107145

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5T6L9

Identification of Orthologs from Complete Genome Data

More...
OMAi
TFILKIM

Database of Orthologous Groups

More...
OrthoDBi
1558288at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5T6L9

TreeFam database of animal gene trees

More...
TreeFami
TF329504

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR025209 DUF4209
IPR039635 ERMARD

The PANTHER Classification System

More...
PANTHERi
PTHR31701 PTHR31701, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13910 DUF4209, 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>.<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.

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 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5T6L9-1) [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
MEVLIGDPIT TCLSPSVYDI ICNLGFQLRE NCDINSIVTQ NGEVCWKTIT
60 70 80 90 100
DCVSYTESEQ GLDYWGSVRL LGPVCEAVHS HFLSLTKGQF EIRYAPWFQW
110 120 130 140 150
TSFPELFPEI FDALESLQSP AISLSLMKLT SCLERALGDV FLLIGKECPF
160 170 180 190 200
LLRDLLSSEE LAQVFSQSVM NVLKVFVGSP CGLNLRNVLW HGFASPEEIP
210 220 230 240 250
PKYCSMMILL TAGLGQLLKS YLQNTKLTLA HRSFISLTNL EDLIVFPDVT
260 270 280 290 300
YEVLSVLEEV MMKSAFILKI MLPYWEVALV KFKSHRFADC AILLLTQLET
310 320 330 340 350
GLRNVFATLN RCPKRLLTAE STALYTTFDQ ILAKHLNDGK INQLPLFLGE
360 370 380 390 400
PAMEFLWDFL NHQEGPRIRD HLSHGEINLH EFSKETTNQL LAFSLVLLLR
410 420 430 440 450
FVDDCLLSVF KEKSAVELLI SLAEGYSSRC HPVFQLKKQV LSCEESIRVW
460 470 480 490 500
ALLPFPEELT RQAVRLEDNS ETNACHSLIT KMTDELYHHM PENRCVLKDL
510 520 530 540 550
DRLPTETWPQ LLRELCSTPV PTLFCPRIVL EVLVVLRSIS EQCRRVSSQV
560 570 580 590 600
TVASELRHRQ WVERTLRSRQ RQNYLRMWSS IRLLSPVLSL ILLLIALELV
610 620 630 640 650
NIHAVCGKNA HEYQQYLKFV KSILQYTENL VAYTSYEKNK WNETINLTHT
660 670
ALLKMWTFSE KKQMLIHLAK KSTSKVLL
Length:678
Mass (Da):77,788
Last modified:December 21, 2004 - 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:iED26D4C45ECDCA21
GO
Isoform 2 (identifier: Q5T6L9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     508-580: Missing.

Note: No experimental confirmation available.
Show »
Length:605
Mass (Da):69,041
Checksum:iA9659A4844C58D4E
GO
Isoform 3 (identifier: Q5T6L9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     508-579: WPQLLRELCS...QRQNYLRMWS → PTSDTPLALAPRKPQPCRCRRRVRP

Note: No experimental confirmation available.
Show »
Length:631
Mass (Da):71,982
Checksum:iDE18213777AC5565
GO
Isoform 4 (identifier: Q5T6L9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-126: Missing.

Note: No experimental confirmation available.
Show »
Length:552
Mass (Da):63,591
Checksum:iCCD7EBCE656563A8
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERF7K7ERF7_HUMAN
Endoplasmic reticulum membrane-asso...
ERMARD
542Annotation 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>
K7EME8K7EME8_HUMAN
Endoplasmic reticulum membrane-asso...
ERMARD
74Annotation 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>
K7ER62K7ER62_HUMAN
Endoplasmic reticulum membrane-asso...
ERMARD
174Annotation 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>
K7EPX8K7EPX8_HUMAN
Endoplasmic reticulum membrane-asso...
ERMARD
73Annotation 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>
K7EMW5K7EMW5_HUMAN
Endoplasmic reticulum membrane-asso...
ERMARD
28Annotation 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>
K7EM31K7EM31_HUMAN
Endoplasmic reticulum membrane-asso...
ERMARD
46Annotation 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>
K7ESI0K7ESI0_HUMAN
Endoplasmic reticulum membrane-asso...
ERMARD
18Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH44812 differs from that shown. Reason: Erroneous termination at position 679. Translated as stop.Curated
The sequence BAA91653 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti276E → G in BAA92035 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070433377I → N in PVNH6; may decrease protein stability. 1 PublicationCorresponds to variant dbSNP:rs398122410Ensembl.1
Natural variantiVAR_033300540S → G1 PublicationCorresponds to variant dbSNP:rs4716346EnsemblClinVar.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_0537081 – 126Missing in isoform 4. 1 PublicationAdd BLAST126
Alternative sequenceiVSP_026951508 – 580Missing in isoform 2. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_026952508 – 579WPQLL…LRMWS → PTSDTPLALAPRKPQPCRCR RRVRP in isoform 3. 1 PublicationAdd BLAST72

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK001369 mRNA Translation: BAA91653.1 Different initiation.
AK002014 mRNA Translation: BAA92035.1
AK294090 mRNA Translation: BAG57431.1
AL354892 Genomic DNA No translation available.
BC044812 mRNA Translation: AAH44812.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34576.1 [Q5T6L9-1]
CCDS64572.1 [Q5T6L9-3]
CCDS64573.1 [Q5T6L9-2]
CCDS64574.1 [Q5T6L9-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001265460.1, NM_001278531.1 [Q5T6L9-3]
NP_001265461.1, NM_001278532.1 [Q5T6L9-4]
NP_001265462.1, NM_001278533.1 [Q5T6L9-2]
NP_060811.1, NM_018341.2 [Q5T6L9-1]
XP_011534241.1, XM_011535939.2 [Q5T6L9-4]
XP_011534242.1, XM_011535940.2 [Q5T6L9-4]
XP_016866521.1, XM_017011032.1 [Q5T6L9-4]
XP_016866522.1, XM_017011033.1 [Q5T6L9-4]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.47546

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000366772; ENSP00000355734; ENSG00000130023 [Q5T6L9-3]
ENST00000366773; ENSP00000355735; ENSG00000130023 [Q5T6L9-1]
ENST00000392095; ENSP00000375945; ENSG00000130023 [Q5T6L9-4]
ENST00000418781; ENSP00000397661; ENSG00000130023 [Q5T6L9-2]
ENST00000611694; ENSP00000483849; ENSG00000276187 [Q5T6L9-2]
ENST00000615090; ENSP00000480327; ENSG00000276187 [Q5T6L9-4]
ENST00000616801; ENSP00000483960; ENSG00000276187 [Q5T6L9-1]
ENST00000621205; ENSP00000483666; ENSG00000276187 [Q5T6L9-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55780

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55780

UCSC genome browser

More...
UCSCi
uc003qxg.3 human [Q5T6L9-1]

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
AK001369 mRNA Translation: BAA91653.1 Different initiation.
AK002014 mRNA Translation: BAA92035.1
AK294090 mRNA Translation: BAG57431.1
AL354892 Genomic DNA No translation available.
BC044812 mRNA Translation: AAH44812.1 Sequence problems.
CCDSiCCDS34576.1 [Q5T6L9-1]
CCDS64572.1 [Q5T6L9-3]
CCDS64573.1 [Q5T6L9-2]
CCDS64574.1 [Q5T6L9-4]
RefSeqiNP_001265460.1, NM_001278531.1 [Q5T6L9-3]
NP_001265461.1, NM_001278532.1 [Q5T6L9-4]
NP_001265462.1, NM_001278533.1 [Q5T6L9-2]
NP_060811.1, NM_018341.2 [Q5T6L9-1]
XP_011534241.1, XM_011535939.2 [Q5T6L9-4]
XP_011534242.1, XM_011535940.2 [Q5T6L9-4]
XP_016866521.1, XM_017011032.1 [Q5T6L9-4]
XP_016866522.1, XM_017011033.1 [Q5T6L9-4]
UniGeneiHs.47546

3D structure databases

ProteinModelPortaliQ5T6L9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120895, 1 interactor
STRINGi9606.ENSP00000355735

PTM databases

iPTMnetiQ5T6L9
PhosphoSitePlusiQ5T6L9

Polymorphism and mutation databases

BioMutaiERMARD
DMDMi74745242

Proteomic databases

EPDiQ5T6L9
jPOSTiQ5T6L9
PaxDbiQ5T6L9
PeptideAtlasiQ5T6L9
PRIDEiQ5T6L9
ProteomicsDBi64597
64598 [Q5T6L9-2]
64599 [Q5T6L9-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55780
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366772; ENSP00000355734; ENSG00000130023 [Q5T6L9-3]
ENST00000366773; ENSP00000355735; ENSG00000130023 [Q5T6L9-1]
ENST00000392095; ENSP00000375945; ENSG00000130023 [Q5T6L9-4]
ENST00000418781; ENSP00000397661; ENSG00000130023 [Q5T6L9-2]
ENST00000611694; ENSP00000483849; ENSG00000276187 [Q5T6L9-2]
ENST00000615090; ENSP00000480327; ENSG00000276187 [Q5T6L9-4]
ENST00000616801; ENSP00000483960; ENSG00000276187 [Q5T6L9-1]
ENST00000621205; ENSP00000483666; ENSG00000276187 [Q5T6L9-3]
GeneIDi55780
KEGGihsa:55780
UCSCiuc003qxg.3 human [Q5T6L9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55780
DisGeNETi55780
EuPathDBiHostDB:ENSG00000130023.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ERMARD
HGNCiHGNC:21056 ERMARD
HPAiHPA041741
MalaCardsiERMARD
MIMi615532 gene
615544 phenotype
neXtProtiNX_Q5T6L9
OpenTargetsiENSG00000130023
Orphaneti75857 6q terminal deletion syndrome
98892 Periventricular nodular heterotopia
PharmGKBiPA134884522

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHQ8 Eukaryota
ENOG4111M8T LUCA
GeneTreeiENSGT00390000001024
HOGENOMiHOG000111557
HOVERGENiHBG107145
InParanoidiQ5T6L9
OMAiTFILKIM
OrthoDBi1558288at2759
PhylomeDBiQ5T6L9
TreeFamiTF329504

Miscellaneous databases

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

More...
ChiTaRSi
ERMARD human

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

More...
GenomeRNAii
55780

Protein Ontology

More...
PROi
PR:Q5T6L9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130023 Expressed in 195 organ(s), highest expression level in right testis
ExpressionAtlasiQ5T6L9 baseline and differential
GenevisibleiQ5T6L9 HS

Family and domain databases

InterProiView protein in InterPro
IPR025209 DUF4209
IPR039635 ERMARD
PANTHERiPTHR31701 PTHR31701, 1 hit
PfamiView protein in Pfam
PF13910 DUF4209, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiEMARD_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: Q5T6L9
Secondary accession number(s): B4DFH0
, F8WAF1, Q3ZCS8, Q5T6L8, Q9NUT5, Q9NVU2
<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: July 24, 2007
Last sequence update: December 21, 2004
Last modified: February 13, 2019
This is version 102 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again