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UniProtKB - Q8WXG6 (MADD_HUMAN)

Entry version 149 (25 May 2022)
Sequence version 2 (20 Feb 2007)
Previous versions | rss
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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 up-regulating 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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]

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8WXG6

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8WXG6

<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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)

More...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

<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:rs147713337EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs149316791EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs1591767154EnsemblClinVar.1
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:rs370382902EnsemblClinVar.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

MalaCards human disease database

More...MalaCardsi		MADD
MIMi603584, gene+phenotype
619004, phenotype
619005, phenotype

Open Targets

More...OpenTargetsi		ENSG00000110514

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

More...Orphaneti		528084, Non-specific syndromic intellectual disability

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

More...EPDi		Q8WXG6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WXG6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WXG6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WXG6

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

More...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

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8WXG6, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...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

More...Genevisiblei		Q8WXG6, HS

Organism-specific databases

Human Protein Atlas

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

<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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114136, 106 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q8WXG6

Protein interaction database and analysis system

More...IntActi		Q8WXG6, 26 interactors

Molecular INTeraction database

More...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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q8WXG6

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

<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

More...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		TFEDLTY

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 <p><strong>What is the canonical sequence?</strong><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>
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>
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>
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 PublicationCorresponds to variant dbSNP:rs149316791EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs1591767154EnsemblClinVar.1
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:rs370382902EnsemblClinVar.1
Natural variantiVAR_084666372P → L in DEEAH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147713337EnsemblClinVar.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		ENST00000311027.9; ENSP00000310933.4; ENSG00000110514.19
ENST00000349238.7; ENSP00000304505.6; ENSG00000110514.19 [Q8WXG6-2]
ENST00000395336.7; ENSP00000378745.3; ENSG00000110514.19 [Q8WXG6-7]
ENST00000395344.7; ENSP00000378753.3; ENSG00000110514.19 [Q8WXG6-8]
ENST00000402192.6; ENSP00000384287.2; ENSG00000110514.19 [Q8WXG6-3]
ENST00000402799.5; ENSP00000385585.1; ENSG00000110514.19 [Q8WXG6-5]
ENST00000406482.5; ENSP00000384435.1; ENSG00000110514.19 [Q8WXG6-6]
ENST00000407859.7; ENSP00000384204.3; ENSG00000110514.19 [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

AlphaFoldDBiQ8WXG6
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi114136, 106 interactors
ELMiQ8WXG6
IntActiQ8WXG6, 26 interactors
MINTiQ8WXG6
STRINGi9606.ENSP00000310933

PTM databases

GlyGeniQ8WXG6, 2 sites, 1 O-linked glycan (2 sites)
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

More...Antibodypediai		13636, 171 antibodies from 34 providers

The DNASU plasmid repository

More...DNASUi		8567

Genome annotation databases

EnsembliENST00000311027.9; ENSP00000310933.4; ENSG00000110514.19
ENST00000349238.7; ENSP00000304505.6; ENSG00000110514.19 [Q8WXG6-2]
ENST00000395336.7; ENSP00000378745.3; ENSG00000110514.19 [Q8WXG6-7]
ENST00000395344.7; ENSP00000378753.3; ENSG00000110514.19 [Q8WXG6-8]
ENST00000402192.6; ENSP00000384287.2; ENSG00000110514.19 [Q8WXG6-3]
ENST00000402799.5; ENSP00000385585.1; ENSG00000110514.19 [Q8WXG6-5]
ENST00000406482.5; ENSP00000384435.1; ENSG00000110514.19 [Q8WXG6-6]
ENST00000407859.7; ENSP00000384204.3; ENSG00000110514.19 [Q8WXG6-4]
GeneIDi8567
KEGGihsa:8567
UCSCiuc001ner.2, human [Q8WXG6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8567
DisGeNETi8567

GeneCards: human genes, protein and diseases

More...GeneCardsi		MADD
HGNCiHGNC:6766, MADD
HPAiENSG00000110514, Tissue enhanced (retina)
MalaCardsiMADD
MIMi603584, gene+phenotype
619004, phenotype
619005, phenotype
neXtProtiNX_Q8WXG6
OpenTargetsiENSG00000110514
Orphaneti528084, Non-specific syndromic intellectual disability
PharmGKBiPA30523
VEuPathDBiHostDB:ENSG00000110514

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3570, Eukaryota
GeneTreeiENSGT00940000156718
HOGENOMiCLU_001270_1_0_1
InParanoidiQ8WXG6
OMAiTFEDLTY
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]
SignaLinkiQ8WXG6
SIGNORiQ8WXG6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8567, 12 hits in 1079 CRISPR screens

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

More...ChiTaRSi		MADD, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MADD_(gene)

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

More...GenomeRNAii		8567
PharosiQ8WXG6, Tbio

Protein Ontology

More...PROi		PR:Q8WXG6
RNActiQ8WXG6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...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

More...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: May 25, 2022
This is version 149 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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