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Entry version 146 (02 Jun 2021)
Sequence version 2 (20 Feb 2007)
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Protein

MAP kinase-activating death domain protein

Gene

MADD

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

Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family (PubMed:20937701, PubMed:18559336).

Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms (PubMed:20937701, PubMed:18559336).

Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms, GTPases involved in synaptic vesicle exocytosis and vesicle secretion (By similarity).

Plays a role in synaptic vesicle formation and in vesicle trafficking at the neuromuscular junction (By similarity).

Involved in upregulating a post-docking step of synaptic exocytosis in central synapses (By similarity).

Probably by binding to the motor proteins KIF1B and KIF1A, mediates motor-dependent transport of GTP-RAB3A-positive vesicles to the presynaptic nerve terminals (By similarity).

Plays a role in TNFA-mediated activation of the MAPK pathway, including ERK1/2 (PubMed:32761064).

May link TNFRSF1A with MAP kinase activation (PubMed:9115275).

May be involved in the regulation of TNFA-induced apoptosis (PubMed:11577081, PubMed:32761064).

By similarity5 Publications

Miscellaneous

Overexpression of MADD activates the mitogen-activated protein (MAP) kinase extracellular signal-regulated kinase (ERK). Expression of the MADD death domain stimulates both the ERK and c-JUN N-terminal kinase MAP kinases and induces the phosphorylation of cytosolic phospholipase A2.1 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 - Molecular functioni

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 functionGuanine-nucleotide releasing factor
Biological processApoptosis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8WXG6

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5357905, Regulation of TNFR1 signaling
R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs [Q8WXG6-3]

<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%5Fand%5Ftaxonomy%5Fsection">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:
MAP kinase-activating death domain protein
Alternative name(s):
Differentially expressed in normal and neoplastic cells
Insulinoma glucagonoma clone 20
Rab3 GDP/GTP exchange factor
Short name:
RabGEFCurated
Rab3 GDP/GTP exchange proteinCurated
Short name:
Rab3GEPCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MADDImported
Synonyms:DENNImported, IG20Imported, KIAA0358Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6766, MADD

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603584, gene+phenotype

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WXG6

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000110514.19

<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

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, 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

DEEAH syndrome (DEEAH)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by moderate to severe global developmental delay, impaired intellectual development, poor or absent speech, and endocrine, pancreatic exocrine and autonomic dysfunction, as well as hematologic abnormalities. Additional features include facial dysmorphism, seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur.
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_084660216 – 1647Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST1432
Natural variantiVAR_084661257S → F in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication1
Natural variantiVAR_084662305G → V in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication1
Natural variantiVAR_084663327 – 1647Missing in DEEAH and NEDDISH; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs147179561Add BLAST1321
Natural variantiVAR_084666372P → L in DEEAH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147713337Ensembl.1
Natural variantiVAR_0846681040L → R in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 2 Publications1
Natural variantiVAR_0846721431 – 1647Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST217
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_084659198R → H in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_084663327 – 1647Missing in DEEAH and NEDDISH; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs147179561Add BLAST1321
Natural variantiVAR_084664346L → P in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_084665354P → L in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationCorresponds to variant dbSNP:rs370382902Ensembl.1
Natural variantiVAR_084667945L → P in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_0846691213 – 1647Missing in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationAdd BLAST435
Natural variantiVAR_0846701283Y → S in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_0846711318W → R in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_0846731532 – 1647Missing in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs971864929Add BLAST116

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8567
MIMi603584, gene+phenotype
619004, phenotype
619005, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000110514

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30523

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8WXG6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MADD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
126215742

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002781381 – 1647MAP kinase-activating death domain proteinBy similarityAdd BLAST1647

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei156PhosphoserineCombined sources1
Modified residuei689PhosphoserineBy similarity1
Modified residuei692PhosphoserineCombined sources1
Modified residuei813PhosphoserineBy similarity1
Modified residuei818PhosphoserineCombined sources1
Modified residuei820PhosphoserineCombined sources1
Modified residuei858PhosphoserineCombined sources1
Modified residuei862PhosphoserineCombined sources1
Modified residuei916PhosphoserineCombined sources1
Modified residuei921PhosphoserineCombined sources1
Modified residuei930PhosphoserineBy similarity1
Modified residuei1059PhosphoserineCombined sources1
Modified residuei1061PhosphothreonineBy similarity1
Modified residuei1066PhosphothreonineBy similarity1
Modified residuei1110PhosphoserineBy similarity1
Modified residuei1237PhosphothreonineCombined sources1
Modified residuei1239PhosphoserineCombined sources1
Modified residuei1270PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8WXG6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8WXG6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8WXG6

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8WXG6

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

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PaxDbi
Q8WXG6

PeptideAtlas

More...
PeptideAtlasi
Q8WXG6

PRoteomics IDEntifications database

More...
PRIDEi
Q8WXG6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
6231
75032 [Q8WXG6-1]
75033 [Q8WXG6-2]
75034 [Q8WXG6-3]
75035 [Q8WXG6-4]
75036 [Q8WXG6-5]
75037 [Q8WXG6-6]
75038 [Q8WXG6-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8WXG6

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q8WXG6

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

More...
PhosphoSitePlusi
Q8WXG6

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in testis, ovary, brain and heart (PubMed:8988362). Expressed in spleen, thymus, prostate, testis, ovary, small instestine and colon (PubMed:9115275). Expressed in liver (PubMed:9796103).3 Publications
Not detected in the brain, breast, kidney, lung, ovary, pancreas, testis, uterus, stomach and thyroid.1 Publication
Expressed in the brain, breast, kidney, lung, ovary, pancreas, testis, uterus, stomach and thyroid.1 Publication
Expressed in the brain, breast, kidney, lung, ovary, pancreas, testis, uterus, stomach and thyroid.1 Publication
Expressed in the brain, breast, kidney, lung, ovary, pancreas, testis, uterus, stomach and thyroid.1 Publication
Expressed in the brain, breast, kidney, lung, ovary, pancreas, testis, uterus, stomach and thyroid.1 Publication
Not detected in the brain, breast, kidney, lung, ovary, pancreas, testis, uterus, stomach and thyroid.1 Publication
Not detected in the brain, breast, kidney, lung, ovary, pancreas, testis, uterus, stomach and thyroid.1 Publication

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal brain and kidney.1 Publication
Expressed in fetal liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000110514, Expressed in right hemisphere of cerebellum and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8WXG6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WXG6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000110514, Tissue enhanced (brain)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via death domain) with TNFRSF1A (via death domain) (PubMed:9115275, PubMed:11577081).

Interacts with PIDD1 (PubMed:10825539).

Interacts with YWHAZ (PubMed:16959763).

Interacts (via death domain) with KIF1B (By similarity).

Interacts with KIF1A (By similarity).

Interacts (via uDENN domain) with RAB3A, RAB3B, RAB3C and RAB3D; the GTP-bound form of the Rab proteins is preferred for interaction (By similarity).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114136, 39 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q8WXG6

Protein interaction database and analysis system

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IntActi
Q8WXG6, 24 interactors

Molecular INTeraction database

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MINTi
Q8WXG6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000310933

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8WXG6, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8WXG6

Database of comparative protein structure models

More...
ModBasei
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini14 – 268uDENNPROSITE-ProRule annotationAdd BLAST255
Domaini289 – 429cDENNPROSITE-ProRule annotationAdd BLAST141
Domaini431 – 565dDENNPROSITE-ProRule annotationAdd BLAST135
Domaini1340 – 1415DeathSequence analysisAdd BLAST76

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni108 – 168DisorderedSequence analysisAdd BLAST61
Regioni604 – 636DisorderedSequence analysisAdd BLAST33
Regioni678 – 842DisorderedSequence analysisAdd BLAST165
Regioni913 – 941DisorderedSequence analysisAdd BLAST29
Regioni1051 – 1110DisorderedSequence analysisAdd BLAST60
Regioni1146 – 1243DisorderedSequence analysisAdd BLAST98

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi128 – 156Polar residuesSequence analysisAdd BLAST29
Compositional biasi689 – 719Polar residuesSequence analysisAdd BLAST31
Compositional biasi793 – 808Polar residuesSequence analysisAdd BLAST16
Compositional biasi817 – 842Polar residuesSequence analysisAdd BLAST26
Compositional biasi1159 – 1215Polar residuesSequence analysisAdd BLAST57

<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 MADD family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3570, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000156718

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001270_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WXG6

Identification of Orthologs from Complete Genome Data

More...
OMAi
ETFSMSK

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WXG6

TreeFam database of animal gene trees

More...
TreeFami
TF318583

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.11500, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001194, cDENN_dom
IPR005112, dDENN_dom
IPR043153, DENN_C
IPR039980, MADD
IPR037516, Tripartite_DENN
IPR005113, uDENN_dom

The PANTHER Classification System

More...
PANTHERi
PTHR13008, PTHR13008, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02141, DENN, 1 hit
PF03456, uDENN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00801, dDENN, 1 hit
SM00799, DENN, 1 hit
SM00800, uDENN, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50211, DENN, 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%5Flength">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 (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 8 <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 8 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q8WXG6-1) [UniParc]FASTAAdd to basket
Also known as: IG201 Publication, IG20-FL1 Publication

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
MVQKKKFCPR LLDYLVIVGA RHPSSDSVAQ TPELLRRYPL EDHTEFPLPP
60 70 80 90 100
DVVFFCQPEG CLSVRQRRMS LRDDTSFVFT LTDKDTGVTR YGICVNFYRS
110 120 130 140 150
FQKRISKEKG EGGAGSRGKE GTHATCASEE GGTESSESGS SLQPLSADST
160 170 180 190 200
PDVNQSPRGK RRAKAGSRSR NSTLTSLCVL SHYPFFSTFR ECLYTLKRLV
210 220 230 240 250
DCCSERLLGK KLGIPRGVQR DTMWRIFTGS LLVEEKSSAL LHDLREIEAW
260 270 280 290 300
IYRLLRSPVP VSGQKRVDIE VLPQELQPAL TFALPDPSRF TLVDFPLHLP
310 320 330 340 350
LELLGVDACL QVLTCILLEH KVVLQSRDYN ALSMSVMAFV AMIYPLEYMF
360 370 380 390 400
PVIPLLPTCM ASAEQLLLAP TPYIIGVPAS FFLYKLDFKM PDDVWLVDLD
410 420 430 440 450
SNRVIAPTNA EVLPILPEPE SLELKKHLKQ ALASMSLNTQ PILNLEKFHE
460 470 480 490 500
GQEIPLLLGR PSNDLQSTPS TEFNPLIYGN DVDSVDVATR VAMVRFFNSA
510 520 530 540 550
NVLQGFQMHT RTLRLFPRPV VAFQAGSFLA SRPRQTPFAE KLARTQAVEY
560 570 580 590 600
FGEWILNPTN YAFQRIHNNM FDPALIGDKP KWYAHQLQPI HYRVYDSNSQ
610 620 630 640 650
LAEALSVPPE RDSDSEPTDD SGSDSMDYDD SSSSYSSLGD FVSEMMKCDI
660 670 680 690 700
NGDTPNVDPL THAALGDASE VEIDELQNQK EAEEPGPDSE NSQENPPLRS
710 720 730 740 750
SSSTTASSSP STVIHGANSE PADSTEMDDK AAVGVSKPLP SVPPSIGKSN
760 770 780 790 800
VDRRQAEIGE GSVRRRIYDN PYFEPQYGFP PEEDEDEQGE SYTPRFSQHV
810 820 830 840 850
SGNRAQKLLR PNSLRLASDS DAESDSRASS PNSTVSNTST EGFGGIMSFA
860 870 880 890 900
SSLYRNHSTS FSLSNLTLPT KGAREKATPF PSLKVFGLNT LMEIVTEAGP
910 920 930 940 950
GSGEGNRRAL VDQKSSVIKH SPTVKREPPS PQGRSSNSSE NQQFLKEVVH
960 970 980 990 1000
SVLDGQGVGW LNMKKVRRLL ESEQLRVFVL SKLNRMVQSE DDARQDIIPD
1010 1020 1030 1040 1050
VEISRKVYKG MLDLLKCTVL SLEQSYAHAG LGGMASIFGL LEIAQTHYYS
1060 1070 1080 1090 1100
KEPDKRKRSP TESVNTPVGK DPGLAGRGDP KAMAQLRVPQ LGPRAPSATG
1110 1120 1130 1140 1150
KGPKELDTRS LKEENFIASI ELWNKHQEVK KQKALEKQRP EVIKPVFDLG
1160 1170 1180 1190 1200
ETEEKKSQIS ADSGVSLTSS SQRTDQDSVI GVSPAVMIRS SSQDSEVSTV
1210 1220 1230 1240 1250
VSNSSGETLG ADSDLSSNAG DGPGGEGSVH LASSRGTLSD SEIETNSATS
1260 1270 1280 1290 1300
TIFGKAHSLK PSIKEKLAGS PIRTSEDVSQ RVYLYEGLLG RDKGSMWDQL
1310 1320 1330 1340 1350
EDAAMETFSI SKERSTLWDQ MQFWEDAFLD AVMLEREGMG MDQGPQEMID
1360 1370 1380 1390 1400
RYLSLGEHDR KRLEDDEDRL LATLLHNLIS YMLLMKVNKN DIRKKVRRLM
1410 1420 1430 1440 1450
GKSHIGLVYS QQINEVLDQL ANLNGRDLSI WSSGSRHMKK QTFVVHAGTD
1460 1470 1480 1490 1500
TNGDIFFMEV CDDCVVLRSN IGTVYERWWY EKLINMTYCP KTKVLCLWRR
1510 1520 1530 1540 1550
NGSETQLNKF YTKKCRELYY CVKDSMERAA ARQQSIKPGP ELGGEFPVQD
1560 1570 1580 1590 1600
LKTGEGGLLQ VTLEGINLKF MHNQVFIELN HIKKCNTVRG VFVLEEFVPE
1610 1620 1630 1640
IKEVVSHKYK TPMAHEICYS VLCLFSYVAA VHSSEEDLRT PPRPVSS
Length:1,647
Mass (Da):183,303
Last modified:February 20, 2007 - v2
<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:i2CA9A3519269757E
GO
Isoform 21 Publication (identifier: Q8WXG6-2) [UniParc]FASTAAdd to basket
Also known as: IG201 Publication, IG20-PA1 Publication, IG20-PASV1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1291-1311: Missing.

Show »
Length:1,608
Mass (Da):178,558
Checksum:iFE1C240F2B74E284
GO
Isoform 33 Publications (identifier: Q8WXG6-3) [UniParc]FASTAAdd to basket
Also known as: DENN2 Publications, IG20-SV11 Publication, MADD1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     885-904: Missing.
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1201-1201: Missing.
     1291-1311: Missing.

Show »
Length:1,587
Mass (Da):176,455
Checksum:i400BBDE0D2BD704E
GO
Isoform 43 Publications (identifier: Q8WXG6-4) [UniParc]FASTAAdd to basket
Also known as: IG20-SV21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     762-804: Missing.
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1291-1311: Missing.

Show »
Length:1,565
Mass (Da):173,395
Checksum:iBF80481B41A4E680
GO
Isoform 52 Publications (identifier: Q8WXG6-5) [UniParc]FASTAAdd to basket
Also known as: DENN-SV1 Publication, IG20-SV31 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     762-804: Missing.
     885-904: Missing.
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1291-1311: Missing.

Show »
Length:1,545
Mass (Da):171,392
Checksum:i30610743419A2E69
GO
Isoform 61 Publication (identifier: Q8WXG6-6) [UniParc]FASTAAdd to basket
Also known as: IG20-SV41 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     762-804: Missing.
     885-904: Missing.
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1291-1311: Missing.
     1575-1582: VFIELNHI → FLKLKKW
     1583-1647: Missing.

Show »
Length:1,479
Mass (Da):164,006
Checksum:i7D5CECD86F93B07D
GO
Isoform 71 Publication (identifier: Q8WXG6-7) [UniParc]FASTAAdd to basket
Also known as: KIAA03581 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1575-1582: VFIELNHI → FLKLKKW
     1583-1647: Missing.

Show »
Length:1,581
Mass (Da):175,917
Checksum:i8E2F7CD03C349AC5
GO
Isoform 8 (identifier: Q8WXG6-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     762-804: Missing.
     885-904: Missing.
     1121-1139: ELWNKHQEVKKQKALEKQR → G
     1197-1200: Missing.
     1291-1311: Missing.

Show »
Length:1,541
Mass (Da):171,006
Checksum:iF717C904CE01ADE1
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
A0A0A0MRB5A0A0A0MRB5_HUMAN
MAP kinase-activating death domain ...
MADD
1,588Annotation score:

Annotation score:2 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>
F8W8U2F8W8U2_HUMAN
MAP kinase-activating death domain ...
MADD
439Annotation 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>
C9K0L0C9K0L0_HUMAN
MAP kinase-activating death domain ...
MADD
136Annotation 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>
C9JLZ9C9JLZ9_HUMAN
MAP kinase-activating death domain ...
MADD
135Annotation 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>
C9J6B0C9J6B0_HUMAN
MAP kinase-activating death domain ...
MADD
154Annotation 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>
C9JM97C9JM97_HUMAN
MAP kinase-activating death domain ...
MADD
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>
A0A0U1RR25A0A0U1RR25_HUMAN
MAP kinase-activating death domain ...
MADD
199Annotation 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 BAA20814 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti108E → G in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti108E → G in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti145L → F in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti205E → G in BAF85131 (PubMed:14702039).Curated1
Sequence conflicti312V → L in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti312V → L in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti482V → A in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti500A → V in BAF85131 (PubMed:14702039).Curated1
Sequence conflicti1262S → C in AAL40265 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL40266 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL40267 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL40268 (PubMed:11577081).Curated1
Sequence conflicti1262S → C in AAL35261 (PubMed:11577081).Curated1
Sequence conflicti1592F → S in BAF85131 (PubMed:14702039).Curated1
Sequence conflicti1639R → G in BAF85131 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_084659198R → H in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_084660216 – 1647Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST1432
Natural variantiVAR_084661257S → F in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication1
Natural variantiVAR_084662305G → V in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 Publication1
Natural variantiVAR_084663327 – 1647Missing in DEEAH and NEDDISH; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs147179561Add BLAST1321
Natural variantiVAR_084664346L → P in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_084665354P → L in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationCorresponds to variant dbSNP:rs370382902Ensembl.1
Natural variantiVAR_084666372P → L in DEEAH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147713337Ensembl.1
Natural variantiVAR_030666696P → T1 PublicationCorresponds to variant dbSNP:rs17854007Ensembl.1
Natural variantiVAR_030667751V → M1 PublicationCorresponds to variant dbSNP:rs1051006Ensembl.1
Natural variantiVAR_051148765R → Q. Corresponds to variant dbSNP:rs3736101Ensembl.1
Natural variantiVAR_084667945L → P in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_030668968R → G1 PublicationCorresponds to variant dbSNP:rs17854008Ensembl.1
Natural variantiVAR_0306691040L → F1 PublicationCorresponds to variant dbSNP:rs17854009Ensembl.1
Natural variantiVAR_0846681040L → R in DEEAH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 2 Publications1
Natural variantiVAR_0846691213 – 1647Missing in NEDDISH; impaired TNFA-induced activation of the MAP kinases ERK1/2; enhanced susceptibility to TNFA-induced apoptosis; decreased EGF internalization. 1 PublicationAdd BLAST435
Natural variantiVAR_0846701283Y → S in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_0846711318W → R in NEDDISH; unknown pathological significance. 1 Publication1
Natural variantiVAR_0846721431 – 1647Missing in DEEAH; unknown pathological significance. 1 PublicationAdd BLAST217
Natural variantiVAR_0511491518L → P. Corresponds to variant dbSNP:rs34534575Ensembl.1
Natural variantiVAR_0846731532 – 1647Missing in NEDDISH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs971864929Add BLAST116

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_052293762 – 804Missing in isoform 4, isoform 5, isoform 6 and isoform 8. 5 PublicationsAdd BLAST43
Alternative sequenceiVSP_052294885 – 904Missing in isoform 3, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST20
Alternative sequenceiVSP_0522951121 – 1139ELWNK…LEKQR → G in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST19
Alternative sequenceiVSP_0448481197 – 1200Missing in isoform 8. 1 Publication4
Alternative sequenceiVSP_0556761201Missing in isoform 3. 3 Publications1
Alternative sequenceiVSP_0522961291 – 1311Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8. 6 PublicationsAdd BLAST21
Alternative sequenceiVSP_0522971575 – 1582VFIELNHI → FLKLKKW in isoform 6 and isoform 7. 2 Publications8
Alternative sequenceiVSP_0522981583 – 1647Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST65

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
U44953 mRNA Translation: AAD12154.1
U77352 mRNA Translation: AAB57735.1
AF440100 mRNA Translation: AAL40265.1
AF440101 mRNA Translation: AAL40266.1
AF440102 mRNA Translation: AAL40267.1
AF440103 mRNA Translation: AAL40268.1
AF440434 mRNA Translation: AAL35261.1
AB002356 mRNA Translation: BAA20814.2 Different initiation.
AK292442 mRNA Translation: BAF85131.1
AC018410 Genomic DNA No translation available.
AC090582 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW67931.1
CH471064 Genomic DNA Translation: EAW67932.1
BC040484 mRNA Translation: AAH40484.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41642.1 [Q8WXG6-7]
CCDS44586.1 [Q8WXG6-3]
CCDS44587.1 [Q8WXG6-4]
CCDS44588.1 [Q8WXG6-5]
CCDS44589.1 [Q8WXG6-8]
CCDS44590.1 [Q8WXG6-6]
CCDS7930.1 [Q8WXG6-1]
CCDS7932.1 [Q8WXG6-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001129415.1, NM_001135943.1
NP_001129416.1, NM_001135944.1 [Q8WXG6-8]
NP_003673.3, NM_003682.3 [Q8WXG6-1]
NP_569826.2, NM_130470.2
NP_569827.2, NM_130471.2 [Q8WXG6-4]
NP_569828.2, NM_130472.2 [Q8WXG6-5]
NP_569829.2, NM_130473.2 [Q8WXG6-2]
NP_569830.2, NM_130474.2 [Q8WXG6-6]
NP_569831.1, NM_130475.2 [Q8WXG6-7]
NP_569832.2, NM_130476.2 [Q8WXG6-3]
XP_005253246.1, XM_005253189.2 [Q8WXG6-1]
XP_005253253.1, XM_005253196.2 [Q8WXG6-2]
XP_005253256.1, XM_005253199.2
XP_005253258.1, XM_005253201.2 [Q8WXG6-4]
XP_005253260.1, XM_005253203.2
XP_005253261.1, XM_005253204.2
XP_005253262.1, XM_005253205.1 [Q8WXG6-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000311027; ENSP00000310933; ENSG00000110514 [Q8WXG6-1]
ENST00000349238; ENSP00000304505; ENSG00000110514 [Q8WXG6-2]
ENST00000395336; ENSP00000378745; ENSG00000110514 [Q8WXG6-7]
ENST00000395344; ENSP00000378753; ENSG00000110514 [Q8WXG6-8]
ENST00000402192; ENSP00000384287; ENSG00000110514 [Q8WXG6-3]
ENST00000402799; ENSP00000385585; ENSG00000110514 [Q8WXG6-5]
ENST00000406482; ENSP00000384435; ENSG00000110514 [Q8WXG6-6]
ENST00000407859; ENSP00000384204; ENSG00000110514 [Q8WXG6-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8567

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8567

UCSC genome browser

More...
UCSCi
uc001ner.2, human [Q8WXG6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
U44953 mRNA Translation: AAD12154.1
U77352 mRNA Translation: AAB57735.1
AF440100 mRNA Translation: AAL40265.1
AF440101 mRNA Translation: AAL40266.1
AF440102 mRNA Translation: AAL40267.1
AF440103 mRNA Translation: AAL40268.1
AF440434 mRNA Translation: AAL35261.1
AB002356 mRNA Translation: BAA20814.2 Different initiation.
AK292442 mRNA Translation: BAF85131.1
AC018410 Genomic DNA No translation available.
AC090582 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW67931.1
CH471064 Genomic DNA Translation: EAW67932.1
BC040484 mRNA Translation: AAH40484.1
CCDSiCCDS41642.1 [Q8WXG6-7]
CCDS44586.1 [Q8WXG6-3]
CCDS44587.1 [Q8WXG6-4]
CCDS44588.1 [Q8WXG6-5]
CCDS44589.1 [Q8WXG6-8]
CCDS44590.1 [Q8WXG6-6]
CCDS7930.1 [Q8WXG6-1]
CCDS7932.1 [Q8WXG6-2]
RefSeqiNP_001129415.1, NM_001135943.1
NP_001129416.1, NM_001135944.1 [Q8WXG6-8]
NP_003673.3, NM_003682.3 [Q8WXG6-1]
NP_569826.2, NM_130470.2
NP_569827.2, NM_130471.2 [Q8WXG6-4]
NP_569828.2, NM_130472.2 [Q8WXG6-5]
NP_569829.2, NM_130473.2 [Q8WXG6-2]
NP_569830.2, NM_130474.2 [Q8WXG6-6]
NP_569831.1, NM_130475.2 [Q8WXG6-7]
NP_569832.2, NM_130476.2 [Q8WXG6-3]
XP_005253246.1, XM_005253189.2 [Q8WXG6-1]
XP_005253253.1, XM_005253196.2 [Q8WXG6-2]
XP_005253256.1, XM_005253199.2
XP_005253258.1, XM_005253201.2 [Q8WXG6-4]
XP_005253260.1, XM_005253203.2
XP_005253261.1, XM_005253204.2
XP_005253262.1, XM_005253205.1 [Q8WXG6-6]

3D structure databases

SMRiQ8WXG6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114136, 39 interactors
ELMiQ8WXG6
IntActiQ8WXG6, 24 interactors
MINTiQ8WXG6
STRINGi9606.ENSP00000310933

PTM databases

iPTMnetiQ8WXG6
MetOSiteiQ8WXG6
PhosphoSitePlusiQ8WXG6

Genetic variation databases

BioMutaiMADD
DMDMi126215742

Proteomic databases

EPDiQ8WXG6
jPOSTiQ8WXG6
MassIVEiQ8WXG6
MaxQBiQ8WXG6
PaxDbiQ8WXG6
PeptideAtlasiQ8WXG6
PRIDEiQ8WXG6
ProteomicsDBi6231
75032 [Q8WXG6-1]
75033 [Q8WXG6-2]
75034 [Q8WXG6-3]
75035 [Q8WXG6-4]
75036 [Q8WXG6-5]
75037 [Q8WXG6-6]
75038 [Q8WXG6-7]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
13636, 167 antibodies

The DNASU plasmid repository

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DNASUi
8567

Genome annotation databases

EnsembliENST00000311027; ENSP00000310933; ENSG00000110514 [Q8WXG6-1]
ENST00000349238; ENSP00000304505; ENSG00000110514 [Q8WXG6-2]
ENST00000395336; ENSP00000378745; ENSG00000110514 [Q8WXG6-7]
ENST00000395344; ENSP00000378753; ENSG00000110514 [Q8WXG6-8]
ENST00000402192; ENSP00000384287; ENSG00000110514 [Q8WXG6-3]
ENST00000402799; ENSP00000385585; ENSG00000110514 [Q8WXG6-5]
ENST00000406482; ENSP00000384435; ENSG00000110514 [Q8WXG6-6]
ENST00000407859; ENSP00000384204; ENSG00000110514 [Q8WXG6-4]
GeneIDi8567
KEGGihsa:8567
UCSCiuc001ner.2, human [Q8WXG6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8567
DisGeNETi8567

GeneCards: human genes, protein and diseases

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GeneCardsi
MADD
HGNCiHGNC:6766, MADD
HPAiENSG00000110514, Tissue enhanced (brain)
MIMi603584, gene+phenotype
619004, phenotype
619005, phenotype
neXtProtiNX_Q8WXG6
OpenTargetsiENSG00000110514
PharmGKBiPA30523
VEuPathDBiHostDB:ENSG00000110514.19

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

eggNOGiKOG3570, Eukaryota
GeneTreeiENSGT00940000156718
HOGENOMiCLU_001270_1_0_1
InParanoidiQ8WXG6
OMAiETFSMSK
PhylomeDBiQ8WXG6
TreeFamiTF318583

Enzyme and pathway databases

PathwayCommonsiQ8WXG6
ReactomeiR-HSA-5357905, Regulation of TNFR1 signaling
R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs [Q8WXG6-3]

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
8567, 7 hits in 994 CRISPR screens

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

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ChiTaRSi
MADD, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MADD_(gene)

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

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GenomeRNAii
8567
PharosiQ8WXG6, Tbio

Protein Ontology

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PROi
PR:Q8WXG6
RNActiQ8WXG6, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000110514, Expressed in right hemisphere of cerebellum and 235 other tissues
ExpressionAtlasiQ8WXG6, baseline and differential
GenevisibleiQ8WXG6, HS

Family and domain databases

Gene3Di3.40.50.11500, 1 hit
InterProiView protein in InterPro
IPR001194, cDENN_dom
IPR005112, dDENN_dom
IPR043153, DENN_C
IPR039980, MADD
IPR037516, Tripartite_DENN
IPR005113, uDENN_dom
PANTHERiPTHR13008, PTHR13008, 1 hit
PfamiView protein in Pfam
PF02141, DENN, 1 hit
PF03456, uDENN, 1 hit
SMARTiView protein in SMART
SM00801, dDENN, 1 hit
SM00799, DENN, 1 hit
SM00800, uDENN, 1 hit
PROSITEiView protein in PROSITE
PS50211, DENN, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiMADD_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: Q8WXG6
Secondary accession number(s): A8K8S7
, B5MEE5, D3DQR4, O15065, O15293, Q15732, Q15741, Q8IWD7, Q8WXG3, Q8WXG4, Q8WXG5, Q8WZ63
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: June 2, 2021
This is version 146 of the entry and version 2 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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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