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Entry version 177 (18 Sep 2019)
Sequence version 1 (01 May 1997)
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Protein

Death domain-containing protein CRADD

Gene

CRADD

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

Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:9044836, PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572). Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway (PubMed:8985253).6 Publications

<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

Biological processApoptosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases

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

More...
SignaLinki
P78560

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Death domain-containing protein CRADD
Alternative name(s):
Caspase and RIP adapter with death domain
RIP-associated protein with a death domain
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CRADD
Synonyms:RAIDD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2340 CRADD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603454 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P78560

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

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

Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

Mental retardation, autosomal recessive 34, with variant lissencephaly (MRT34)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present.
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_067536128G → R in MRT34. 1 PublicationCorresponds to variant dbSNP:rs387906861EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi27L → F: Loss of interaction with CASP2. 1 Publication1
Mutagenesisi65G → A: Loss of interaction with CASP2. 1 Publication1
Mutagenesisi121N → D: Loss of interaction with PIDD1. 1 Publication1
Mutagenesisi125Q → A: Loss of interaction with PIDD1. 1 Publication1
Mutagenesisi136L → E: Partial loss of interaction with PIDD1. 1 Publication1
Mutagenesisi142Q → E: Partial loss of interaction with PIDD1. 1 Publication1
Mutagenesisi146Y → A: Loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation. 1 Publication1
Mutagenesisi147R → A: Loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation. 1 Publication1
Mutagenesisi147R → E: Loss of interaction with PIDD1. Loss of PIDDosome assembly. Loss of CASP2 activation. 1 Publication1
Mutagenesisi149K → E: Loss of interaction with PIDD1. 1 Publication1
Mutagenesisi154H → A: Partial loss of interaction with PIDD1. 1 Publication1
Mutagenesisi156V → D: Loss of interaction with PIDD1. Loss of PIDDosome assembly. Loss of CASP2 activation. 1 Publication1
Mutagenesisi169Q → A: Partial loss of interaction with PIDD1. Decreased PIDDosome assembly. Decreased CASP2 activation. 1 Publication1
Mutagenesisi169Q → E: Loss of interaction with PIDD1. 1 Publication1
Mutagenesisi170R → A: Partial loss of interaction with PIDD1. 1 Publication1
Mutagenesisi188E → K: No effect on interaction with PIDD1. 1 Publication1
Mutagenesisi189V → W or D: No effect on interaction with PIDD1. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8738

MalaCards human disease database

More...
MalaCardsi
CRADD
MIMi614499 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169372

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

More...
Orphaneti
88616 Autosomal recessive non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26860

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P78560

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CRADD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2498833

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000793261 – 199Death domain-containing protein CRADDAdd BLAST199

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P78560

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P78560

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P78560

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

More...
PaxDbi
P78560

PeptideAtlas

More...
PeptideAtlasi
P78560

PRoteomics IDEntifications database

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PRIDEi
P78560

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
57654 [P78560-1]
6451

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P78560

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

More...
PhosphoSitePlusi
P78560

<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

Constitutively expressed in most tissues, with particularly high expression in adult heart, testis, liver, skeletal muscle, fetal liver and kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169372 Expressed in 211 organ(s), highest expression level in left adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P78560 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P78560 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB005337

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

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

Forms a complex named the PIDDosome with PIDD1 and CASP2 (PubMed:9044836, PubMed:8985253, PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572).

Interacts (via Death domain) with RIPK1 (via Death domain); the interaction is direct (PubMed:9044836).

Interacts with TRADD (PubMed:8985253).

Interacts with TNFRSF1A (PubMed:8985253).

6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114275, 24 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-3905 Caspase-2 PIDDosome

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P78560

Protein interaction database and analysis system

More...
IntActi
P78560, 20 interactors

Molecular INTeraction database

More...
MINTi
P78560

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000439068

<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

Secondary structure

1199
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P78560

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P78560

<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_and_domains_section">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>Domaini1 – 91CARDPROSITE-ProRule annotationAdd BLAST91
Domaini116 – 188DeathPROSITE-ProRule annotationAdd BLAST73

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Death domain mediates the interaction with PIDD1 and the formation of a complex composed of 5 PIDD1 and 7 CRADD proteins which in turn probably recruit 7 CASP2 to form the PIDDosome (PubMed:17289572). The Death domain mediates a direct interaction with the Death domain of RIPK1 (PubMed:9044836).2 Publications
The CARD domain mediates a direct interaction with CASP2.2 Publications

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJAM Eukaryota
ENOG4111SYE LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014448

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111965

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P78560

KEGG Orthology (KO)

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KOi
K02832

Identification of Orthologs from Complete Genome Data

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OMAi
LGPEWEH

Database of Orthologous Groups

More...
OrthoDBi
1346117at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P78560

TreeFam database of animal gene trees

More...
TreeFami
TF333055

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08327 CARD_RAIDD, 1 hit
cd08319 Death_RAIDD, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001315 CARD
IPR042148 CARD_RAIDD
IPR037939 CRADD
IPR037926 CRADD_Death
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain

The PANTHER Classification System

More...
PANTHERi
PTHR15034 PTHR15034, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00619 CARD, 1 hit
PF00531 Death, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00114 CARD, 1 hit
SM00005 DEATH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47986 SSF47986, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50209 CARD, 1 hit
PS50017 DEATH_DOMAIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

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

This entry describes 2 <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 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P78560-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEARDKQVLR SLRLELGAEV LVEGLVLQYL YQEGILTENH IQEINAQTTG
60 70 80 90 100
LRKTMLLLDI LPSRGPKAFD TFLDSLQEFP WVREKLKKAR EEAMTDLPAG
110 120 130 140 150
DRLTGIPSHI LNSSPSDRQI NQLAQRLGPE WEPMVLSLGL SQTDIYRCKA
160 170 180 190
NHPHNVQSQV VEAFIRWRQR FGKQATFQSL HNGLRAVEVD PSLLLHMLE
Length:199
Mass (Da):22,745
Last modified:May 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3437CC612C85E402
GO
Isoform 2 (identifier: P78560-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-199: DRLTGIPSHI...DPSLLLHMLE → CWP

Note: No experimental confirmation available.
Show »
Length:103
Mass (Da):11,826
Checksum:i04DFF4A1F09D0B56
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VVY5F8VVY5_HUMAN
Death domain-containing protein CRA...
CRADD
130Annotation 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>
F5H7C2F5H7C2_HUMAN
Death domain-containing protein CRA...
CRADD
121Annotation 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>
F8VV49F8VV49_HUMAN
Death domain-containing protein CRA...
CRADD
115Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067536128G → R in MRT34. 1 PublicationCorresponds to variant dbSNP:rs387906861EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056892101 – 199DRLTG…LHMLE → CWP in isoform 2. 1 PublicationAdd BLAST99

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U84388 mRNA Translation: AAC50952.1
U79115 mRNA Translation: AAB42217.1
AK294986 mRNA Translation: BAH11941.1
AC012085 Genomic DNA No translation available.
AC012464 Genomic DNA No translation available.
AC025261 Genomic DNA No translation available.
BC017042 mRNA Translation: AAH17042.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9048.1 [P78560-1]

NCBI Reference Sequences

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RefSeqi
NP_001307028.1, NM_001320099.1 [P78560-1]
NP_001307029.1, NM_001320100.1
NP_001307030.1, NM_001320101.1
NP_003796.1, NM_003805.4 [P78560-1]
XP_016875633.1, XM_017020144.1 [P78560-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000332896; ENSP00000327647; ENSG00000169372 [P78560-1]
ENST00000542893; ENSP00000439068; ENSG00000169372 [P78560-1]
ENST00000551065; ENSP00000448425; ENSG00000169372 [P78560-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8738

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8738

UCSC genome browser

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UCSCi
uc058rts.1 human [P78560-1]

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
U84388 mRNA Translation: AAC50952.1
U79115 mRNA Translation: AAB42217.1
AK294986 mRNA Translation: BAH11941.1
AC012085 Genomic DNA No translation available.
AC012464 Genomic DNA No translation available.
AC025261 Genomic DNA No translation available.
BC017042 mRNA Translation: AAH17042.1
CCDSiCCDS9048.1 [P78560-1]
RefSeqiNP_001307028.1, NM_001320099.1 [P78560-1]
NP_001307029.1, NM_001320100.1
NP_001307030.1, NM_001320101.1
NP_003796.1, NM_003805.4 [P78560-1]
XP_016875633.1, XM_017020144.1 [P78560-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2O71X-ray2.00A94-199[»]
2OF5X-ray3.20A/B/C/D/E/F/G94-199[»]
3CRDNMR-A1-100[»]
SMRiP78560
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi114275, 24 interactors
ComplexPortaliCPX-3905 Caspase-2 PIDDosome
CORUMiP78560
IntActiP78560, 20 interactors
MINTiP78560
STRINGi9606.ENSP00000439068

PTM databases

iPTMnetiP78560
PhosphoSitePlusiP78560

Polymorphism and mutation databases

BioMutaiCRADD
DMDMi2498833

Proteomic databases

EPDiP78560
jPOSTiP78560
MassIVEiP78560
PaxDbiP78560
PeptideAtlasiP78560
PRIDEiP78560
ProteomicsDBi57654 [P78560-1]
6451

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8738

Genome annotation databases

EnsembliENST00000332896; ENSP00000327647; ENSG00000169372 [P78560-1]
ENST00000542893; ENSP00000439068; ENSG00000169372 [P78560-1]
ENST00000551065; ENSP00000448425; ENSG00000169372 [P78560-2]
GeneIDi8738
KEGGihsa:8738
UCSCiuc058rts.1 human [P78560-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8738
DisGeNETi8738

GeneCards: human genes, protein and diseases

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GeneCardsi
CRADD
HGNCiHGNC:2340 CRADD
HPAiCAB005337
MalaCardsiCRADD
MIMi603454 gene
614499 phenotype
neXtProtiNX_P78560
OpenTargetsiENSG00000169372
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA26860

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IJAM Eukaryota
ENOG4111SYE LUCA
GeneTreeiENSGT00390000014448
HOGENOMiHOG000111965
InParanoidiP78560
KOiK02832
OMAiLGPEWEH
OrthoDBi1346117at2759
PhylomeDBiP78560
TreeFamiTF333055

Enzyme and pathway databases

ReactomeiR-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases
SignaLinkiP78560

Miscellaneous databases

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

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ChiTaRSi
CRADD human
EvolutionaryTraceiP78560

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CRADD

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

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GenomeRNAii
8738
PharosiP78560

Protein Ontology

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PROi
PR:P78560

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169372 Expressed in 211 organ(s), highest expression level in left adrenal gland
ExpressionAtlasiP78560 baseline and differential
GenevisibleiP78560 HS

Family and domain databases

CDDicd08327 CARD_RAIDD, 1 hit
cd08319 Death_RAIDD, 1 hit
InterProiView protein in InterPro
IPR001315 CARD
IPR042148 CARD_RAIDD
IPR037939 CRADD
IPR037926 CRADD_Death
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
PANTHERiPTHR15034 PTHR15034, 2 hits
PfamiView protein in Pfam
PF00619 CARD, 1 hit
PF00531 Death, 1 hit
SMARTiView protein in SMART
SM00114 CARD, 1 hit
SM00005 DEATH, 1 hit
SUPFAMiSSF47986 SSF47986, 2 hits
PROSITEiView protein in PROSITE
PS50209 CARD, 1 hit
PS50017 DEATH_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCRADD_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: P78560
Secondary accession number(s): B7Z2Q5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: September 18, 2019
This is version 177 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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