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Entry version 216 (08 May 2019)
Sequence version 2 (23 Jan 2002)
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Protein

Apoptotic protease-activating factor 1

Gene

APAF1

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

Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis.2 Publications

Miscellaneous

Physiological concentrations of calcium ions negatively affect the assembly of apoptosome by inhibiting nucleotide exchange in the monomeric form.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei265ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi154 – 161ATPSequence analysis8

<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
LigandATP-binding, Calcium, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-111458 Formation of apoptosome
R-HSA-111459 Activation of caspases through apoptosome-mediated cleavage
R-HSA-111463 SMAC (DIABLO) binds to IAPs
R-HSA-111464 SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
R-HSA-6798695 Neutrophil degranulation
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-9627069 Regulation of the apoptosome activity

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
O14727

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

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SignaLinki
O14727

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O14727

<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:
Apoptotic protease-activating factor 1Curated
Short name:
APAF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:APAF1Imported
Synonyms:KIAA0413
<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

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HGNCi
HGNC:576 APAF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602233 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14727

<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

<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

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>Mutagenesisi160K → R: No association with APAF-1. No binding to pro-caspase-9. 1 Publication1
Mutagenesisi368M → L: Activation of pro-caspase-9 independent of cytochrome c. Increased ability to induce apoptosis. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
317

Open Targets

More...
OpenTargetsi
ENSG00000120868

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24868

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1795093

Drug and drug target database

More...
DrugBanki
DB00171 Adenosine triphosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
APAF1

<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_00000508441 – 1248Apoptotic protease-activating factor 1Add BLAST1248

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O14727

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O14727

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O14727

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

More...
PaxDbi
O14727

PeptideAtlas

More...
PeptideAtlasi
O14727

PRoteomics IDEntifications database

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PRIDEi
O14727

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48182
48183 [O14727-2]
48184 [O14727-3]
48185 [O14727-4]
48186 [O14727-5]
48187 [O14727-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O14727

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

More...
PhosphoSitePlusi
O14727

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
O14727

<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

Ubiquitous. Highest levels of expression in adult spleen and peripheral blood leukocytes, and in fetal brain, kidney and lung. Isoform 1 is expressed in heart, kidney and liver.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By E2F and p53/TP53 in apoptotic neurons.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000120868 Expressed in 196 organ(s), highest expression level in caudate nucleus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O14727 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O14727 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB069399
HPA031373

<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

Monomer. Oligomerizes to a heptameric ring, known as the apoptosome, upon binding of cytochrome c and dATP. Oligomeric Apaf-1 and pro-caspase-9 bind to each other via their respective NH2-terminal CARD domains and consecutively mature caspase-9 is released from the complex. Pro-caspase-3 is recruited into the Apaf-1-pro-caspase-9 complex via interaction with pro-caspase-9.

Interacts with APIP.

Interacts (via CARD and NACHT domains) with NAIP/BIRC1 (via NACHT domain).

Interacts with CIAO2A (PubMed:25716227).

4 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)

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BioGridi
106814, 31 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3762 Apoptosome

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O14727

Database of interacting proteins

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DIPi
DIP-27624N

Protein interaction database and analysis system

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IntActi
O14727, 9 interactors

Molecular INTeraction database

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MINTi
O14727

STRING: functional protein association networks

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STRINGi
9606.ENSP00000448165

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O14727

<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

11248
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
O14727

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O14727

<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 – 90CARDPROSITE-ProRule annotationAdd BLAST90
Domaini104 – 415NB-ARCAdd BLAST312
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati613 – 652WD 1-1Add BLAST40
Repeati655 – 694WD 1-2Add BLAST40
Repeati697 – 738WD 1-3Add BLAST42
Repeati741 – 780WD 1-4Add BLAST40
Repeati796 – 836WD 1-5Add BLAST41
Repeati838 – 877WD 1-6Add BLAST40
Repeati880 – 910WD 1-7Add BLAST31
Repeati922 – 958WD 2-1Add BLAST37
Repeati959 – 998WD 2-2Add BLAST40
Repeati1001 – 1040WD 2-3Add BLAST40
Repeati1042 – 1080WD 2-4Add BLAST39
Repeati1083 – 1122WD 2-5Add BLAST40
Repeati1125 – 1164WD 2-6Add BLAST40
Repeati1175 – 1212WD 2-7Add BLAST38
Repeati1213 – 1248WD 2-8Add BLAST36

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>Regioni910 – 921Interpropeller linkerBy similarityAdd BLAST12

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi95 – 98Poly-Ser4

<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 CARD domain mediates interaction with APIP.
The monomeric form is autoinhibited in a closed conformation through a bound ADP at the nucleotide binding site. Exchange of ADP for ATP and binding of cytochrome c trigger a large conformational change where the first WD repeat region swings out, allowing the NB-ARC domain to rotate and expose the contact areas for oligomerization (By similarity).By similarity

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4155 Eukaryota
KOG4658 Eukaryota
ENOG410XP3K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157710

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O14727

KEGG Orthology (KO)

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KOi
K02084

Identification of Orthologs from Complete Genome Data

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OMAi
SRIGHKK

Database of Orthologous Groups

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OrthoDBi
62693at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O14727

TreeFam database of animal gene trees

More...
TreeFami
TF323866

Family and domain databases

Conserved Domains Database

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CDDi
cd08323 CARD_APAF1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 1 hit
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017251 Apaf-1
IPR041452 APAF1_C
IPR037963 APAF1_CARD_dom
IPR001315 CARD
IPR011029 DEATH-like_dom_sf
IPR020472 G-protein_beta_WD-40_rep
IPR002182 NB-ARC
IPR027417 P-loop_NTPase
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
IPR036388 WH-like_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17908 APAF1_C, 1 hit
PF00619 CARD, 1 hit
PF00931 NB-ARC, 1 hit
PF00400 WD40, 9 hits

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF037646 Apop_pept_activating-1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00320 GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320 WD40, 13 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47986 SSF47986, 1 hit
SSF50978 SSF50978, 2 hits
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50209 CARD, 1 hit
PS00678 WD_REPEATS_1, 4 hits
PS50082 WD_REPEATS_2, 9 hits
PS50294 WD_REPEATS_REGION, 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 (6+)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 6 <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 6 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14727-1) [UniParc]FASTAAdd to basket
Also known as: Apaf-1XL

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
MDAKARNCLL QHREALEKDI KTSYIMDHMI SDGFLTISEE EKVRNEPTQQ
60 70 80 90 100
QRAAMLIKMI LKKDNDSYVS FYNALLHEGY KDLAALLHDG IPVVSSSSGK
110 120 130 140 150
DSVSGITSYV RTVLCEGGVP QRPVVFVTRK KLVNAIQQKL SKLKGEPGWV
160 170 180 190 200
TIHGMAGCGK SVLAAEAVRD HSLLEGCFPG GVHWVSVGKQ DKSGLLMKLQ
210 220 230 240 250
NLCTRLDQDE SFSQRLPLNI EEAKDRLRIL MLRKHPRSLL ILDDVWDSWV
260 270 280 290 300
LKAFDSQCQI LLTTRDKSVT DSVMGPKYVV PVESSLGKEK GLEILSLFVN
310 320 330 340 350
MKKADLPEQA HSIIKECKGS PLVVSLIGAL LRDFPNRWEY YLKQLQNKQF
360 370 380 390 400
KRIRKSSSYD YEALDEAMSI SVEMLREDIK DYYTDLSILQ KDVKVPTKVL
410 420 430 440 450
CILWDMETEE VEDILQEFVN KSLLFCDRNG KSFRYYLHDL QVDFLTEKNC
460 470 480 490 500
SQLQDLHKKI ITQFQRYHQP HTLSPDQEDC MYWYNFLAYH MASAKMHKEL
510 520 530 540 550
CALMFSLDWI KAKTELVGPA HLIHEFVEYR HILDEKDCAV SENFQEFLSL
560 570 580 590 600
NGHLLGRQPF PNIVQLGLCE PETSEVYQQA KLQAKQEVDN GMLYLEWINK
610 620 630 640 650
KNITNLSRLV VRPHTDAVYH ACFSEDGQRI ASCGADKTLQ VFKAETGEKL
660 670 680 690 700
LEIKAHEDEV LCCAFSTDDR FIATCSVDKK VKIWNSMTGE LVHTYDEHSE
710 720 730 740 750
QVNCCHFTNS SHHLLLATGS SDCFLKLWDL NQKECRNTMF GHTNSVNHCR
760 770 780 790 800
FSPDDKLLAS CSADGTLKLW DATSANERKS INVKQFFLNL EDPQEDMEVI
810 820 830 840 850
VKCCSWSADG ARIMVAAKNK IFLFDIHTSG LLGEIHTGHH STIQYCDFSP
860 870 880 890 900
QNHLAVVALS QYCVELWNTD SRSKVADCRG HLSWVHGVMF SPDGSSFLTS
910 920 930 940 950
SDDQTIRLWE TKKVCKNSAV MLKQEVDVVF QENEVMVLAV DHIRRLQLIN
960 970 980 990 1000
GRTGQIDYLT EAQVSCCCLS PHLQYIAFGD ENGAIEILEL VNNRIFQSRF
1010 1020 1030 1040 1050
QHKKTVWHIQ FTADEKTLIS SSDDAEIQVW NWQLDKCIFL RGHQETVKDF
1060 1070 1080 1090 1100
RLLKNSRLLS WSFDGTVKVW NIITGNKEKD FVCHQGTVLS CDISHDATKF
1110 1120 1130 1140 1150
SSTSADKTAK IWSFDLLLPL HELRGHNGCV RCSAFSVDST LLATGDDNGE
1160 1170 1180 1190 1200
IRIWNVSNGE LLHLCAPLSE EGAATHGGWV TDLCFSPDGK MLISAGGYIK
1210 1220 1230 1240
WWNVVTGESS QTFYTNGTNL KKIHVSPDFK TYVTVDNLGI LYILQTLE
Length:1,248
Mass (Da):141,840
Last modified:January 23, 2002 - 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:i0750D05817AC9B3B
GO
Isoform 2 (identifier: O14727-2) [UniParc]FASTAAdd to basket
Also known as: Apaf-1L

The sequence of this isoform differs from the canonical sequence as follows:
     99-109: Missing.

Show »
Length:1,237
Mass (Da):140,745
Checksum:i0D3EF9AB2A66FFF5
GO
Isoform 3 (identifier: O14727-3) [UniParc]FASTAAdd to basket
Also known as: Apaf-1S

The sequence of this isoform differs from the canonical sequence as follows:
     99-109: Missing.
     824-866: Missing.

Show »
Length:1,194
Mass (Da):135,980
Checksum:iA675EA102DDAAFB7
GO
Isoform 4 (identifier: O14727-4) [UniParc]FASTAAdd to basket
Also known as: Apaf-1M

The sequence of this isoform differs from the canonical sequence as follows:
     824-866: Missing.

Show »
Length:1,205
Mass (Da):137,076
Checksum:iDA57B4E35E79D73A
GO
Isoform 5 (identifier: O14727-5) [UniParc]FASTAAdd to basket
Also known as: Apaf-1XS

The sequence of this isoform differs from the canonical sequence as follows:
     575-575: E → ETLGFESKK
     824-866: Missing.
     1113-1154: Missing.

Show »
Length:1,171
Mass (Da):133,356
Checksum:iCA9B14019EAB35BF
GO
Isoform 6 (identifier: O14727-6) [UniParc]FASTAAdd to basket
Also known as: Apaf-1-ALT

The sequence of this isoform differs from the canonical sequence as follows:
     319-338: GSPLVVSLIGALLRDFPNRW → VVERCHWGILTDLLHKWNQS
     339-1248: Missing.

Show »
Length:338
Mass (Da):37,976
Checksum:i29D933A65707ED92
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JLV4C9JLV4_HUMAN
Apoptotic protease-activating facto...
APAF1
1,163Annotation 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>
F8VNZ0F8VNZ0_HUMAN
Apoptotic protease-activating facto...
APAF1
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>

<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 AAK28401 differs from that shown. Reason: Frameshift at position 108.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 conflicti134N → S (Ref. 11) Curated1
Sequence conflicti145G → C in CAB55587 (PubMed:10441496).Curated1
Sequence conflicti161S → F in CAB55586 (PubMed:10441496).Curated1
Sequence conflicti370I → T in CAB55581 (PubMed:10441496).Curated1
Sequence conflicti383Y → H in CAB55586 (PubMed:10441496).Curated1
Sequence conflicti544F → L in CAB55584 (PubMed:10441496).Curated1
Sequence conflicti580A → T in CAB55580 (PubMed:10441496).Curated1
Sequence conflicti608R → C in CAB55585 (PubMed:10441496).Curated1
Sequence conflicti620H → R in CAB55587 (PubMed:10441496).Curated1
Sequence conflicti639L → F in CAB55583 (PubMed:10441496).Curated1
Sequence conflicti708T → A in CAB55579 (PubMed:10441496).Curated1
Sequence conflicti742H → R in CAB55584 (PubMed:10441496).Curated1
Sequence conflicti746V → A in CAB55586 (PubMed:10441496).Curated1
Sequence conflicti757L → P in CAB56462 (PubMed:10441496).Curated1
Sequence conflicti795E → G in CAB55581 (PubMed:10441496).Curated1
Sequence conflicti798E → G in CAB55587 (PubMed:10441496).Curated1
Sequence conflicti825D → A in CAB55585 (PubMed:10441496).Curated1
Sequence conflicti871S → L in CAB55587 (PubMed:10441496).Curated1
Sequence conflicti876A → T in CAB55581 (PubMed:10441496).Curated1
Sequence conflicti949I → V in CAB55585 (PubMed:10441496).Curated1
Sequence conflicti1008H → R in CAB55582 (PubMed:10441496).Curated1
Sequence conflicti1056S → P in CAB55582 (PubMed:10441496).Curated1
Sequence conflicti1241L → I in BAA24843 (PubMed:9455477).Curated1

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_00675999 – 109Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST11
Alternative sequenceiVSP_008965319 – 338GSPLV…FPNRW → VVERCHWGILTDLLHKWNQS in isoform 6. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_008966339 – 1248Missing in isoform 6. 1 PublicationAdd BLAST910
Alternative sequenceiVSP_006760575E → ETLGFESKK in isoform 5. 1 Publication1
Alternative sequenceiVSP_006761824 – 866Missing in isoform 3, isoform 4 and isoform 5. 2 PublicationsAdd BLAST43
Alternative sequenceiVSP_0067621113 – 1154Missing in isoform 5. 1 PublicationAdd BLAST42

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
AF013263 mRNA Translation: AAC51678.1
AJ243003 mRNA Translation: CAB55579.1
AJ243004 mRNA Translation: CAB55580.1
AJ243005 mRNA Translation: CAB55581.1
AJ243006 mRNA Translation: CAB55582.1
AJ243007 mRNA Translation: CAB55583.1
AJ243008 mRNA Translation: CAB55584.1
AJ243009 mRNA Translation: CAB55585.1
AJ243010 mRNA Translation: CAB55586.1
AJ243011 mRNA Translation: CAB55587.1
AJ243048 mRNA Translation: CAB55588.1
AJ243107 mRNA Translation: CAB56462.1
AF134397 mRNA Translation: AAD38344.1
AF149794 mRNA Translation: AAD34016.1
AB007873 mRNA Translation: BAA24843.2
AB103079 mRNA Translation: BAC77343.1
CH471054 Genomic DNA Translation: EAW97606.1
BC136531 mRNA Translation: AAI36532.1
BC136532 mRNA Translation: AAI36533.1
AJ133643 Genomic DNA Translation: CAB65085.1
AJ133644 Genomic DNA Translation: CAB65086.1
AJ133645 Genomic DNA Translation: CAB65087.1
AF248734 mRNA Translation: AAK28401.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55862.1 [O14727-2]
CCDS55863.1 [O14727-3]
CCDS9069.1 [O14727-1]
CCDS9070.1 [O14727-4]
CCDS9071.1 [O14727-6]

Protein sequence database of the Protein Information Resource

More...
PIRi
T03818

NCBI Reference Sequences

More...
RefSeqi
NP_001151.1, NM_001160.2 [O14727-3]
NP_037361.1, NM_013229.2 [O14727-2]
NP_863651.1, NM_181861.1 [O14727-1]
NP_863658.1, NM_181868.1 [O14727-4]
NP_863659.1, NM_181869.1 [O14727-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000333991; ENSP00000334558; ENSG00000120868 [O14727-6]
ENST00000357310; ENSP00000349862; ENSG00000120868 [O14727-4]
ENST00000359972; ENSP00000353059; ENSG00000120868 [O14727-3]
ENST00000547045; ENSP00000449791; ENSG00000120868 [O14727-4]
ENST00000550527; ENSP00000448449; ENSG00000120868 [O14727-2]
ENST00000551964; ENSP00000448165; ENSG00000120868 [O14727-1]
ENST00000552268; ENSP00000448826; ENSG00000120868 [O14727-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
317

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:317

UCSC genome browser

More...
UCSCi
uc001tfz.4 human [O14727-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF013263 mRNA Translation: AAC51678.1
AJ243003 mRNA Translation: CAB55579.1
AJ243004 mRNA Translation: CAB55580.1
AJ243005 mRNA Translation: CAB55581.1
AJ243006 mRNA Translation: CAB55582.1
AJ243007 mRNA Translation: CAB55583.1
AJ243008 mRNA Translation: CAB55584.1
AJ243009 mRNA Translation: CAB55585.1
AJ243010 mRNA Translation: CAB55586.1
AJ243011 mRNA Translation: CAB55587.1
AJ243048 mRNA Translation: CAB55588.1
AJ243107 mRNA Translation: CAB56462.1
AF134397 mRNA Translation: AAD38344.1
AF149794 mRNA Translation: AAD34016.1
AB007873 mRNA Translation: BAA24843.2
AB103079 mRNA Translation: BAC77343.1
CH471054 Genomic DNA Translation: EAW97606.1
BC136531 mRNA Translation: AAI36532.1
BC136532 mRNA Translation: AAI36533.1
AJ133643 Genomic DNA Translation: CAB65085.1
AJ133644 Genomic DNA Translation: CAB65086.1
AJ133645 Genomic DNA Translation: CAB65087.1
AF248734 mRNA Translation: AAK28401.1 Frameshift.
CCDSiCCDS55862.1 [O14727-2]
CCDS55863.1 [O14727-3]
CCDS9069.1 [O14727-1]
CCDS9070.1 [O14727-4]
CCDS9071.1 [O14727-6]
PIRiT03818
RefSeqiNP_001151.1, NM_001160.2 [O14727-3]
NP_037361.1, NM_013229.2 [O14727-2]
NP_863651.1, NM_181861.1 [O14727-1]
NP_863658.1, NM_181868.1 [O14727-4]
NP_863659.1, NM_181869.1 [O14727-6]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1C15NMR-A1-97[»]
1CWWNMR-A1-97[»]
1CY5X-ray1.30A1-97[»]
1Z6TX-ray2.21A/B/C/D1-591[»]
2P1HX-ray1.59A1-92[»]
2YGSX-ray1.60A1-92[»]
3J2Telectron microscopy9.5A/B/C/D/E/F/G1-1248[»]
3JBTelectron microscopy3.80A/C/E/G/I/K/M1-1248[»]
3YGSX-ray2.50C1-95[»]
4RHWX-ray2.10A/B/C/D1-97[»]
5JUYelectron microscopy4.10A/B/C/D/E/F/G1-1248[»]
5WVCX-ray2.99A/C/E1-95[»]
5WVEelectron microscopy4.40A/C/E/G/I/K/M1-1248[»]
O/P/Q/R/W/X1-102[»]
SMRiO14727
ModBaseiSearch...

Protein-protein interaction databases

BioGridi106814, 31 interactors
ComplexPortaliCPX-3762 Apoptosome
CORUMiO14727
DIPiDIP-27624N
IntActiO14727, 9 interactors
MINTiO14727
STRINGi9606.ENSP00000448165

Chemistry databases

BindingDBiO14727
ChEMBLiCHEMBL1795093
DrugBankiDB00171 Adenosine triphosphate

PTM databases

iPTMnetiO14727
PhosphoSitePlusiO14727

Polymorphism and mutation databases

BioMutaiAPAF1

Proteomic databases

EPDiO14727
jPOSTiO14727
MaxQBiO14727
PaxDbiO14727
PeptideAtlasiO14727
PRIDEiO14727
ProteomicsDBi48182
48183 [O14727-2]
48184 [O14727-3]
48185 [O14727-4]
48186 [O14727-5]
48187 [O14727-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333991; ENSP00000334558; ENSG00000120868 [O14727-6]
ENST00000357310; ENSP00000349862; ENSG00000120868 [O14727-4]
ENST00000359972; ENSP00000353059; ENSG00000120868 [O14727-3]
ENST00000547045; ENSP00000449791; ENSG00000120868 [O14727-4]
ENST00000550527; ENSP00000448449; ENSG00000120868 [O14727-2]
ENST00000551964; ENSP00000448165; ENSG00000120868 [O14727-1]
ENST00000552268; ENSP00000448826; ENSG00000120868 [O14727-6]
GeneIDi317
KEGGihsa:317
UCSCiuc001tfz.4 human [O14727-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
317
DisGeNETi317

GeneCards: human genes, protein and diseases

More...
GeneCardsi
APAF1
HGNCiHGNC:576 APAF1
HPAiCAB069399
HPA031373
MIMi602233 gene
neXtProtiNX_O14727
OpenTargetsiENSG00000120868
PharmGKBiPA24868

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4155 Eukaryota
KOG4658 Eukaryota
ENOG410XP3K LUCA
GeneTreeiENSGT00940000157710
InParanoidiO14727
KOiK02084
OMAiSRIGHKK
OrthoDBi62693at2759
PhylomeDBiO14727
TreeFamiTF323866

Enzyme and pathway databases

ReactomeiR-HSA-111458 Formation of apoptosome
R-HSA-111459 Activation of caspases through apoptosome-mediated cleavage
R-HSA-111463 SMAC (DIABLO) binds to IAPs
R-HSA-111464 SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
R-HSA-6798695 Neutrophil degranulation
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-9627069 Regulation of the apoptosome activity
SABIO-RKiO14727
SignaLinkiO14727
SIGNORiO14727

Miscellaneous databases

EvolutionaryTraceiO14727

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
APAF1

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

More...
GenomeRNAii
317
PMAP-CutDBiO14727

Protein Ontology

More...
PROi
PR:O14727

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120868 Expressed in 196 organ(s), highest expression level in caudate nucleus
ExpressionAtlasiO14727 baseline and differential
GenevisibleiO14727 HS

Family and domain databases

CDDicd08323 CARD_APAF1, 1 hit
Gene3Di1.10.10.10, 1 hit
2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR017251 Apaf-1
IPR041452 APAF1_C
IPR037963 APAF1_CARD_dom
IPR001315 CARD
IPR011029 DEATH-like_dom_sf
IPR020472 G-protein_beta_WD-40_rep
IPR002182 NB-ARC
IPR027417 P-loop_NTPase
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF17908 APAF1_C, 1 hit
PF00619 CARD, 1 hit
PF00931 NB-ARC, 1 hit
PF00400 WD40, 9 hits
PIRSFiPIRSF037646 Apop_pept_activating-1, 1 hit
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 13 hits
SUPFAMiSSF47986 SSF47986, 1 hit
SSF50978 SSF50978, 2 hits
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50209 CARD, 1 hit
PS00678 WD_REPEATS_1, 4 hits
PS50082 WD_REPEATS_2, 9 hits
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiAPAF_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: O14727
Secondary accession number(s): B2RMX8
, O43297, Q7Z438, Q9BXZ6, Q9UBZ5, Q9UGN8, Q9UGN9, Q9UGP0, Q9UJ58, Q9UJ59, Q9UJ60, Q9UJ61, Q9UJ62, Q9UJ63, Q9UJ64, Q9UJ65, Q9UJ66, Q9UJ67, Q9UNC9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2002
Last modified: May 8, 2019
This is version 216 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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