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UniProtKB - Q9BRQ8 (FSP1_HUMAN)

Entry version 161 (07 Apr 2021)
Sequence version 1 (01 Jun 2001)
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Protein

Ferroptosis suppressor protein 1

Gene

AIFM2

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

A NAD(P)H-dependent oxidoreductase involved in cellular oxidative stress response. At the plasma membrane, catalyzes reduction of coenzyme Q/ubiquinone-10 to ubiquinol-10, a lipophilic radical-trapping antioxidant that prevents lipid oxidative damage and consequently ferroptosis. Cooperates with GPX4 to suppress phospholipid peroxidation and ferroptosis. This anti-ferroptotic function is independent of cellular glutathione levels (PubMed:31634899, PubMed:31634900). May play a role in mitochondrial stress signaling. Upon oxidative stress, associates with the lipid peroxidation end product 4-hydroxy-2-nonenal (HNE) forming a lipid adduct devoid of oxidoreductase activity, which then translocates from mitochondria into the nucleus triggering DNA damage and cell death (PubMed:26689472). Capable of DNA binding in a non-sequence specific way (PubMed:15958387).4 Publications

Caution

Conflicting data exist on the pro-apoptotic function of the protein. It was initially claimed that overexpression of FSP1 induces caspase-independent apoptosis, but new evidence disputes this function.6 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

6-hydroxy-FAD1 PublicationNote: Binds 6-hydroxy-FAD non-covalently.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

The modification by 4-hydroxy-2-nonenal (HNE) adduction in mitochondria results in loss of the oxidoreductase activity and activation of a novel function in mitochondrial oxidative stress signaling.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei546-hydroxy-FADSequence analysis1
Binding sitei826-hydroxy-FAD; via amide nitrogen and carbonyl oxygenSequence analysis1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1744-hydroxy-2-nonenal adductionBy similarity1
Binding sitei2856-hydroxy-FADSequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi18 – 226-hydroxy-FADSequence analysis5

<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 functionDNA-binding, Oxidoreductase
LigandFAD, Flavoprotein

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BRQ8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6803204, TP53 Regulates Transcription of Genes Involved in Cytochrome C Release

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9BRQ8

<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:
Ferroptosis suppressor protein 12 Publications (EC:1.6.5.-2 Publications)
Short name:
FSP12 Publications
Alternative name(s):
Apoptosis-inducing factor homologous mitochondrion-associated inducer of death1 Publication
Short name:
AMID1 Publication
p53-responsive gene 3 protein1 Publication
<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:AIFM2Imported
Synonyms:AMID, PRG31 Publication
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21411, AIFM2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605159, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BRQ8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000042286.14

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei7 – 27HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Lipid droplet, Membrane, Mitochondrion, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi2G → A: Impairs N-myristoylation and ferroptosis suppression. 1 Publication1
Mutagenesisi156E → A: Impairs the reductase activity toward coenzyme Q1/ubiquinone-1. Impairs ferroptosis suppression. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		84883

Open Targets

More...OpenTargetsi		ENSG00000042286

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162376150

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BRQ8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AIFM2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74752283

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00002389222 – 373Ferroptosis suppressor protein 1Add BLAST372

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine4 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-myristoylation at Gly-2 mediates the recruitment to lipid droplets and plasma membrane.1 Publication

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BRQ8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BRQ8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BRQ8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BRQ8

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

More...PaxDbi		Q9BRQ8

PeptideAtlas

More...PeptideAtlasi		Q9BRQ8

PRoteomics IDEntifications database

More...PRIDEi		Q9BRQ8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78808 [Q9BRQ8-1]
78809 [Q9BRQ8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BRQ8

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

More...PhosphoSitePlusi		Q9BRQ8

<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

Detected in most normal tissues as two transcripts of 1.8 and 4.0 kb in length, respectively. Highly expressed in heart, moderately in liver and skeletal muscles, and expressed at low levels in placenta, lung, kidney, and pancreas. Both transcripts expressed following p53/TP53 induction. The shorter 1.8 kb transcript seems to be the major transcript in EB1 colon cancer cells.1 Publication

<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

Expression detected at 4 hours after induction by p53/TP53. Down-regulated in a wide range of human tumors.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000042286, Expressed in adipose tissue of abdominal region and 181 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BRQ8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000042286, Tissue enhanced (breast)

<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 with importin subunits KPNA2 and IPO5; this interaction likely mediates the translocation into the nucleus upon oxidative stress.

By similarity

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124325, 19 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9BRQ8

Protein interaction database and analysis system

More...IntActi		Q9BRQ8, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000478931

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BRQ8, protein

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

3D structure databases

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

More...SMRi		Q9BRQ8

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<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 FAD-dependent oxidoreductase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1336, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004582

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_019845_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BRQ8

Identification of Orthologs from Complete Genome Data

More...OMAi		ISDHHIR

Database of Orthologous Groups

More...OrthoDBi		1463391at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BRQ8

TreeFam database of animal gene trees

More...TreeFami		TF329369

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036188, FAD/NAD-bd_sf
IPR023753, FAD/NAD-binding_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07992, Pyr_redox_2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51905, SSF51905, 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 (2)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 12 Publications (identifier: Q9BRQ8-1) [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
MGSQVSVESG ALHVVIVGGG FGGIAAASQL QALNVPFMLV DMKDSFHHNV 
        60         70         80         90        100
AALRASVETG FAKKTFISYS VTFKDNFRQG LVVGIDLKNQ MVLLQGGEAL 
       110        120        130        140        150
PFSHLILATG STGPFPGKFN EVSSQQAAIQ AYEDMVRQVQ RSRFIVVVGG 
       160        170        180        190        200
GSAGVEMAAE IKTEYPEKEV TLIHSQVALA DKELLPSVRQ EVKEILLRKG 
       210        220        230        240        250
VQLLLSERVS NLEELPLNEY REYIKVQTDK GTEVATNLVI LCTGIKINSS 
       260        270        280        290        300
AYRKAFESRL ASSGALRVNE HLQVEGHSNV YAIGDCADVR TPKMAYLAGL 
       310        320        330        340        350
HANIAVANIV NSVKQRPLQA YKPGALTFLL SMGRNDGVGQ ISGFYVGRLM 
       360        370 
VRLTKSRDLF VSTSWKTMRQ SPP
Length:373
Mass (Da):40,527
Last modified:June 1, 2001 - 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:i47F2E6F682D4C060
GO
Isoform 21 Publication (identifier: Q9BRQ8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-138: Missing.
     206-206: S → SLLG

Show »
Length:336
Mass (Da):36,520
Checksum:i30E3D34AE9CE8EFA
GO

Natural variant

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_050651135M → T. Corresponds to variant dbSNP:rs10999147Ensembl.1
Natural variantiVAR_050652288D → N. Corresponds to variant dbSNP:rs2271694Ensembl.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_05204799 – 138Missing in isoform 2. 2 PublicationsAdd BLAST40
Alternative sequenceiVSP_052048206S → SLLG in isoform 2. 2 Publications1

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
AF337957 mRNA Translation: AAL73229.1
AF506757 mRNA Translation: AAM77596.1
AK027403 mRNA Translation: BAB55089.1
AK127353 mRNA Translation: BAG54492.1
AL731540 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54376.1
BC006121 mRNA Translation: AAH06121.1
BC023601 mRNA Translation: AAH23601.1
BX537621 mRNA Translation: CAH56481.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7297.1 [Q9BRQ8-1]

NCBI Reference Sequences

More...RefSeqi		NP_001185625.1, NM_001198696.1 [Q9BRQ8-1]
NP_116186.1, NM_032797.5 [Q9BRQ8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000307864; ENSP00000312370; ENSG00000042286 [Q9BRQ8-1]
ENST00000373248; ENSP00000362345; ENSG00000042286 [Q9BRQ8-1]
ENST00000613322; ENSP00000478931; ENSG00000042286 [Q9BRQ8-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84883

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84883

UCSC genome browser

More...UCSCi		uc001jqp.3, human [Q9BRQ8-1]

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%5Freferences%5Fsection">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
AF337957 mRNA Translation: AAL73229.1
AF506757 mRNA Translation: AAM77596.1
AK027403 mRNA Translation: BAB55089.1
AK127353 mRNA Translation: BAG54492.1
AL731540 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54376.1
BC006121 mRNA Translation: AAH06121.1
BC023601 mRNA Translation: AAH23601.1
BX537621 mRNA Translation: CAH56481.1
CCDSiCCDS7297.1 [Q9BRQ8-1]
RefSeqiNP_001185625.1, NM_001198696.1 [Q9BRQ8-1]
NP_116186.1, NM_032797.5 [Q9BRQ8-1]

3D structure databases

SMRiQ9BRQ8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124325, 19 interactors
ELMiQ9BRQ8
IntActiQ9BRQ8, 8 interactors
STRINGi9606.ENSP00000478931

PTM databases

iPTMnetiQ9BRQ8
PhosphoSitePlusiQ9BRQ8

Genetic variation databases

BioMutaiAIFM2
DMDMi74752283

Proteomic databases

EPDiQ9BRQ8
jPOSTiQ9BRQ8
MassIVEiQ9BRQ8
MaxQBiQ9BRQ8
PaxDbiQ9BRQ8
PeptideAtlasiQ9BRQ8
PRIDEiQ9BRQ8
ProteomicsDBi78808 [Q9BRQ8-1]
78809 [Q9BRQ8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		14832, 285 antibodies

The DNASU plasmid repository

More...DNASUi		84883

Genome annotation databases

EnsembliENST00000307864; ENSP00000312370; ENSG00000042286 [Q9BRQ8-1]
ENST00000373248; ENSP00000362345; ENSG00000042286 [Q9BRQ8-1]
ENST00000613322; ENSP00000478931; ENSG00000042286 [Q9BRQ8-1]
GeneIDi84883
KEGGihsa:84883
UCSCiuc001jqp.3, human [Q9BRQ8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84883
DisGeNETi84883

GeneCards: human genes, protein and diseases

More...GeneCardsi		AIFM2
HGNCiHGNC:21411, AIFM2
HPAiENSG00000042286, Tissue enhanced (breast)
MIMi605159, gene
neXtProtiNX_Q9BRQ8
OpenTargetsiENSG00000042286
PharmGKBiPA162376150
VEuPathDBiHostDB:ENSG00000042286.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1336, Eukaryota
GeneTreeiENSGT00390000004582
HOGENOMiCLU_019845_2_1_1
InParanoidiQ9BRQ8
OMAiISDHHIR
OrthoDBi1463391at2759
PhylomeDBiQ9BRQ8
TreeFamiTF329369

Enzyme and pathway databases

PathwayCommonsiQ9BRQ8
ReactomeiR-HSA-6803204, TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
SIGNORiQ9BRQ8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84883, 13 hits in 992 CRISPR screens

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

More...ChiTaRSi		AIFM2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AIFM2

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

More...GenomeRNAii		84883
PharosiQ9BRQ8, Tbio

Protein Ontology

More...PROi		PR:Q9BRQ8
RNActiQ9BRQ8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000042286, Expressed in adipose tissue of abdominal region and 181 other tissues
GenevisibleiQ9BRQ8, HS

Family and domain databases

InterProiView protein in InterPro
IPR036188, FAD/NAD-bd_sf
IPR023753, FAD/NAD-binding_dom
PfamiView protein in Pfam
PF07992, Pyr_redox_2, 1 hit
SUPFAMiSSF51905, SSF51905, 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 nameiFSP1_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: Q9BRQ8
Secondary accession number(s): B3KXI0, Q63Z39
<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: May 30, 2006
Last sequence update: June 1, 2001
Last modified: April 7, 2021
This is version 161 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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
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