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UniProtKB - Q8WUM4 (PDC6I_HUMAN)

Entry version 192 (12 Aug 2020)
Sequence version 1 (01 Mar 2002)
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Protein

Programmed cell death 6-interacting protein

Gene

PDCD6IP

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

Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires the sequential function of ESCRT-O, -I,-II and -III complexes (PubMed:14739459). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:17853893, PubMed:17556548). Adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis (PubMed:17853893, PubMed:17556548, PubMed:18641129). May play a role in the regulation of both apoptosis and cell proliferation. Regulates exosome biogenesis in concert with SDC1/4 and SDCBP (PubMed:22660413). By interacting with F-actin, PARD3 and TJP1 secures the proper assembly and positioning of actomyosin-tight junction complex at the apical sides of adjacent epithelial cells that defines a spatial membrane domain essential for the maintenance of epithelial cell polarity and barrier (By similarity).By similarity5 Publications
(Microbial infection) Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function requires the interaction with CHMP4B. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as enveloped virus budding (HIV-1 and other lentiviruses).5 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

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

Biological processApoptosis, Cell cycle, Cell division, Host-virus interaction, Protein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WUM4

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-162588, Budding and maturation of HIV virion
R-HSA-5210891, Uptake and function of anthrax toxins

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		Q8WUM4, Predicted

<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:
Programmed cell death 6-interacting protein
Short name:
PDCD6-interacting protein
Alternative name(s):
ALG-2-interacting protein 1
ALG-2-interacting protein X
Hp95
<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:PDCD6IP
Synonyms:AIP1, ALIX, KIAA1375
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000170248.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:8766, PDCD6IP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608074, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WUM4

<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

Cell junction, Cytoplasm, Cytoskeleton, Secreted, Tight junction

<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>Mutagenesisi199F → D: Does not support cytokinesis; loss of normal midbody formation; loss of CHMP4A-, CHMP4B- and CHMP4C-binding in a yeast two-hybrid assay; no effect on localization to the midbody; abolishes rescue of PTAP-type L domain-deficient HIV-1 p6. 2 Publications1
Mutagenesisi212I → D: Does not support cytokinesis; loss of normal midbody formation; loss of CHMP4A-, CHMP4B- and CHMP4C-binding in a yeast two-hybrid assay; impairs rescue of PTAP-type L domain-deficient HIV-1 p6; no effect on localization to the midbody. 3 Publications1
Mutagenesisi216L → D: Abolishes interaction with CHMP4B and abolishes rescue of PTAP-type L domain-deficient HIV-1 p6. 1 Publication1
Mutagenesisi317F → A: Diminishes rescue of PTAP-type L domain-deficient HIV-1 p6. 1 Publication1
Mutagenesisi318I → A: Greatly diminishes rescue of PTAP-type L domain--deficient HIV-1 p6. 1 Publication1
Mutagenesisi319Y → A: Greatly diminishes rescue of PTAP-type L domain-deficient HIV-1 p6. 2 Publications1
Mutagenesisi319Y → F: No effect on rescue of PTAP-type L domain-deficient HIV-1 p6. 2 Publications1
Mutagenesisi495F → D: Impairs rescue of PTAP-type L domain-deficient HIV-1 p6. 1 Publication1
Mutagenesisi498V → D: Reduces interaction with HIV-1 p6 and EIAV p9; abolishes rescue of PTAP-type L domain-deficient HIV-1 p6. 2 Publications1
Mutagenesisi509V → D: Abolishes interaction with HIV-1 p6; impairs rescue of PTAP-type L domain-deficient HIV-1 p6. 2 Publications1
Mutagenesisi512C → A: No effect on interaction with HIV-1 p6; impairs rescue of PTAP-type L domain-deficient HIV-1 p6. 1 Publication1
Mutagenesisi676F → A: Loss of interaction with SDCBP. 1 Publication1
Mutagenesisi676F → D: Abolishes interaction with HIV-1 p6 and EIAV p9; abolishes rescue of PTAP-type L domain-deficient HIV-1 p6; no effect on cytokinesis, nor on midbody formation. 4 Publications1
Mutagenesisi680L → D: Impairs rescue of PTAP-type L domain-deficient HIV-1 p6. 1 Publication1
Mutagenesisi683I → A: No effect on interaction with HIV-1 p6. 2 Publications1
Mutagenesisi683I → D: Reduces interaction with HIV-1 p6 and EIAV p9; abolishes rescue of PTAP-type L domain-deficient HIV-1 p6. 2 Publications1
Mutagenesisi717 – 720PSAP → AAAA: No effect on midbody formation, nor on cytokinesis; reduced TSG101-binding; no effect on HIV-1 release. Almost complete loss of TSG101-binding and impaired cytokinesis; when associated with 852-A--A-855. 1 Publication4
Mutagenesisi720P → L: Abolishes interaction with TSG101; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6. 1 Publication1
Mutagenesisi744 – 745PR → VD: No effect on midbody formation; loss of CD2AP- and SH3KBP1-binding in a yeast two-hybrid assay; no effect on HIV-1 release. 1 Publication2
Mutagenesisi757 – 759RPP → GAA: No effect on midbody formation; loss of SH3GL2-binding in a yeast two-hybrid assay. 1 Publication3
Mutagenesisi757 – 758RP → AA: Abolishes interaction with SH3GL1 and SH3GL2; no effect on rescue of PTAP-type L domain-deficient HIV-1 p6. 1 Publication2
Mutagenesisi794 – 813Missing : Does not support the formation of normal midbodies; loss of localization to the midbody; loss of CD2AP-, CEP55-, SH3GL2-, SH3KBP1-, TSG101-binding in a yeast two-hybrid assay. 1 PublicationAdd BLAST20
Mutagenesisi800 – 802GPP → AAA: Abolishes interaction with CEP55; inhibits support of cytokinesis. 1 Publication3
Mutagenesisi801 – 802PP → VD: Loss of midbody localization; does not support cytokinesis; loss of CEP55-binding in a yeast two-hybrid assay; no effect on HIV-1 release. 1 Publication2
Mutagenesisi801P → A: Decreased interaction with CEP55. 1 Publication1
Mutagenesisi802P → A: Decreased interaction with CEP55. 1 Publication1
Mutagenesisi803 – 804YP → VD: No effect on CEP55-binding in a yeast two-hybrid assay. 1 Publication2
Mutagenesisi805 – 806TY → VD: Loss of CEP55-binding in a yeast two-hybrid assay. 1 Publication2
Mutagenesisi806Y → A: Abolishes interaction with CEP55. 1 Publication1
Mutagenesisi852 – 855PSYP → ASAA: Loss of homoologimerization and reduced TSG101-binding; decreased HIV-1 release; no effect on cytokinesis. Almost complete loss of TSG101-binding and impaired cytokinesis; when associated with 717-A--A-720. 1 Publication4
Mutagenesisi864 – 865YY → AA: Loss of homooligomerization; reduced TSG101-binding; impaired HIV-1 release. 1 Publication2

Organism-specific databases

DisGeNET

More...DisGeNETi		10015

Open Targets

More...OpenTargetsi		ENSG00000170248

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33116

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WUM4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PDCD6IP

Domain mapping of disease mutations (DMDM)

More...DMDMi		31076831

<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 methionineiRemovedCombined sources1 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_00002188912 – 868Programmed cell death 6-interacting proteinAdd BLAST867

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei215N6-acetyllysineCombined sources1
Modified residuei479PhosphothreonineCombined sources1
Modified residuei481PhosphoserineCombined sources1
Modified residuei730PhosphoserineCombined sources1
Modified residuei738PhosphothreonineCombined sources1
Modified residuei741PhosphothreonineCombined sources1
Modified residuei745Omega-N-methylarginineCombined sources1

<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

May be phosphorylated on tyrosine residues by activated PDGFRB.1 Publication

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-419
CPTAC-420

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WUM4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WUM4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WUM4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WUM4

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

More...PaxDbi		Q8WUM4

PeptideAtlas

More...PeptideAtlasi		Q8WUM4

PRoteomics IDEntifications database

More...PRIDEi		Q8WUM4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20178
74695 [Q8WUM4-1]

2D gel databases

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		Q8WUM4

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WUM4

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q8WUM4

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

More...PhosphoSitePlusi		Q8WUM4

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8WUM4

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170248, Expressed in corpus callosum and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WUM4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WUM4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170248, Low tissue specificity

<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

Self-associates (PubMed:14505570, PubMed:14519844).

Interacts with SH3KBP1/CIN85 (By similarity).

Interacts with PDCD6 in a calcium -dependent manner (PubMed:16957052, PubMed:18256029, PubMed:18940611).

Interacts with TSG101 in a calcium-dependent manner; PDCD6IP homooligomerization may be required for TSG101-binding (PubMed:14505570, PubMed:14519844, PubMed:18641129, PubMed:19520058, PubMed:17350572).

Interacts with SGSM3 (PubMed:15849434). Directly interacts with CHMP4A, CHMP4B and CHMP4C (PubMed:12860994, PubMed:14505569, PubMed:14505570, PubMed:14519844, PubMed:14678797, PubMed:14583093, PubMed:17428861, PubMed:17350572, PubMed:18511562). Directly interacts with CEP55 in a 1:2 stoechiometry (PubMed:17853893, PubMed:17556548, PubMed:18641129, PubMed:18948538). The interaction with CEP55 is required for PDCD6IP targeting to the midbody (PubMed:18641129). May interact with PDGFRB (PubMed:20494825).

Interacts with SH3GL1 and SH3GL2/endophilin-1 (PubMed:17350572).

Forms a complex with SDCBP and SDC2 (PubMed:22660413).

Found in a complex with F-actin, TJP1/ZO-1 and PARD3 (By similarity).

Interacts with CD2AP (PubMed:17853893).

Interacts with ARRDC1 (PubMed:21191027).

By similarity21 Publications

(Microbial infection) Interacts with HIV-1 p6 (PubMed:14505569, PubMed:17350572, PubMed:17277784, PubMed:18066081).

Interacts with HIV-1 p9 (PubMed:18066081).

5 Publications

(Microbial infection) Interacts with EIAV p9.

4 Publications

(Microbial infection) Interacts with Murine leukemia virus Gag polyprotein (via LYPX(n)L motif).

1 Publication

(Microbial infection) Interacts with ebola virus protein VP40 (via YPx(n)L/I motif).

1 Publication

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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115332, 146 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3282, Syndecan-1-syntenin-1-ALIX complex

Database of interacting proteins

More...DIPi		DIP-29327N

Protein interaction database and analysis system

More...IntActi		Q8WUM4, 72 interactors

Molecular INTeraction database

More...MINTi		Q8WUM4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000411825

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WUM4, 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

Secondary structure

1868
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

More...SMRi		Q8WUM4

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		Q8WUM4

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini3 – 392BRO1PROSITE-ProRule annotationAdd BLAST390

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>Regioni176 – 868Interaction with EIAV p9Add BLAST693
Regioni176 – 503Interaction with CHMP4A, CHMP4B and CHMP4CAdd BLAST328
Regioni418 – 868Interaction with SDCBP1 PublicationAdd BLAST451
Regioni503 – 868Self-associationAdd BLAST366
Regioni717 – 720Interaction with TSG1014
Regioni801 – 806Interaction with CEP551 Publication6
Regioni864 – 868Essential to promote virus budding5

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 biasi717 – 860Pro-richAdd BLAST144

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2220, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01000000214627

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007181_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WUM4

KEGG Orthology (KO)

More...KOi		K12200

Identification of Orthologs from Complete Genome Data

More...OMAi		TKYDQHP

Database of Orthologous Groups

More...OrthoDBi		550620at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WUM4

TreeFam database of animal gene trees

More...TreeFami		TF323502

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.280, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR025304, ALIX_V_dom
IPR004328, BRO1_dom
IPR038499, BRO1_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13949, ALIX_LYPXL_bnd, 1 hit
PF03097, BRO1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01041, BRO1, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51180, BRO1, 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 (3+)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 3 <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

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WUM4-1) [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
MATFISVQLK KTSEVDLAKP LVKFIQQTYP SGGEEQAQYC RAAEELSKLR 
        60         70         80         90        100
RAAVGRPLDK HEGALETLLR YYDQICSIEP KFPFSENQIC LTFTWKDAFD 
       110        120        130        140        150
KGSLFGGSVK LALASLGYEK SCVLFNCAAL ASQIAAEQNL DNDEGLKIAA 
       160        170        180        190        200
KHYQFASGAF LHIKETVLSA LSREPTVDIS PDTVGTLSLI MLAQAQEVFF 
       210        220        230        240        250
LKATRDKMKD AIIAKLANQA ADYFGDAFKQ CQYKDTLPKE VFPVLAAKHC 
       260        270        280        290        300
IMQANAEYHQ SILAKQQKKF GEEIARLQHA AELIKTVASR YDEYVNVKDF 
       310        320        330        340        350
SDKINRALAA AKKDNDFIYH DRVPDLKDLD PIGKATLVKS TPVNVPISQK 
       360        370        380        390        400
FTDLFEKMVP VSVQQSLAAY NQRKADLVNR SIAQMREATT LANGVLASLN 
       410        420        430        440        450
LPAAIEDVSG DTVPQSILTK SRSVIEQGGI QTVDQLIKEL PELLQRNREI 
       460        470        480        490        500
LDESLRLLDE EEATDNDLRA KFKERWQRTP SNELYKPLRA EGTNFRTVLD 
       510        520        530        540        550
KAVQADGQVK ECYQSHRDTI VLLCKPEPEL NAAIPSANPA KTMQGSEVVN 
       560        570        580        590        600
VLKSLLSNLD EVKKEREGLE NDLKSVNFDM TSKFLTALAQ DGVINEEALS 
       610        620        630        640        650
VTELDRVYGG LTTKVQESLK KQEGLLKNIQ VSHQEFSKMK QSNNEANLRE 
       660        670        680        690        700
EVLKNLATAY DNFVELVANL KEGTKFYNEL TEILVRFQNK CSDIVFARKT 
       710        720        730        740        750
ERDELLKDLQ QSIAREPSAP SIPTPAYQSS PAGGHAPTPP TPAPRTMPPT 
       760        770        780        790        800
KPQPPARPPP PVLPANRAPS ATAPSPVGAG TAAPAPSQTP GSAPPPQAQG 
       810        820        830        840        850
PPYPTYPGYP GYCQMPMPMG YNPYAYGQYN MPYPPVYHQS PGQAPYPGPQ 
       860 
QPSYPFPQPP QQSYYPQQ
Length:868
Mass (Da):96,023
Last modified:March 1, 2002 - 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:i573588D1F612EC93
GO
Isoform 2 (identifier: Q8WUM4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     239-239: K → KYFYFQ

Show »
Length:873
Mass (Da):96,772
Checksum:iFAC77FBE20C69D70
GO
Isoform 3 (identifier: Q8WUM4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     240-271: EVFPVLAAKHCIMQANAEYHQSILAKQQKKFG → VSYCFYKHLLTLHVKYLDFFVYKKQVETYKEI
     272-868: Missing.

Show »
Length:271
Mass (Da):30,453
Checksum:iEDE1855B7AFA2275
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZF9C9IZF9_HUMAN
Programmed cell death 6-interacting...
PDCD6IP
153Annotation 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>
F8WDK9F8WDK9_HUMAN
Programmed cell death 6-interacting...
PDCD6IP
95Annotation 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>
F8WEQ7F8WEQ7_HUMAN
Programmed cell death 6-interacting...
PDCD6IP
72Annotation 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>
F8WBR8F8WBR8_HUMAN
Programmed cell death 6-interacting...
PDCD6IP
78Annotation 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>
A0A3B3IT07A0A3B3IT07_HUMAN
Programmed cell death 6-interacting...
PDCD6IP
300Annotation 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 BAA92092 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti580M → T in BAA92092 (PubMed:14702039).Curated1

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_0689757V → M1 PublicationCorresponds to variant dbSNP:rs11554560Ensembl.1
Natural variantiVAR_053017309A → T1 PublicationCorresponds to variant dbSNP:rs3792594Ensembl.1
Natural variantiVAR_053018378V → I2 PublicationsCorresponds to variant dbSNP:rs3203777Ensembl.1
Natural variantiVAR_069765429G → S1 PublicationCorresponds to variant dbSNP:rs76608858Ensembl.1
Natural variantiVAR_053019550N → S2 PublicationsCorresponds to variant dbSNP:rs9813017Ensembl.1
Natural variantiVAR_053020638K → E. Corresponds to variant dbSNP:rs3183982Ensembl.1
Natural variantiVAR_024381730S → L1 PublicationCorresponds to variant dbSNP:rs1127732Ensembl.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_044860239K → KYFYFQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_057190240 – 271EVFPV…QKKFG → VSYCFYKHLLTLHVKYLDFF VYKKQVETYKEI in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_057191272 – 868Missing in isoform 3. 1 PublicationAdd BLAST597

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
AF349951 mRNA Translation: AAK20398.1
GQ131806 mRNA Translation: ACS12984.1
AF151793 mRNA Translation: AAF08220.1
BT007367 mRNA Translation: AAP36031.1
AC112220 Genomic DNA No translation available.
AC123901 Genomic DNA No translation available.
BC020066 mRNA Translation: AAH20066.1
BC068454 mRNA Translation: AAH68454.1
AK002122 mRNA Translation: BAA92092.1 Different initiation.
AB037796 mRNA Translation: BAA92613.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2660.1 [Q8WUM4-1]
CCDS54561.1 [Q8WUM4-2]

NCBI Reference Sequences

More...RefSeqi		NP_001155901.1, NM_001162429.2 [Q8WUM4-2]
NP_001243121.1, NM_001256192.1 [Q8WUM4-3]
NP_037506.2, NM_013374.5 [Q8WUM4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000307296; ENSP00000307387; ENSG00000170248 [Q8WUM4-1]
ENST00000457054; ENSP00000411825; ENSG00000170248 [Q8WUM4-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10015

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10015

UCSC genome browser

More...UCSCi		uc003cfx.5, human [Q8WUM4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF349951 mRNA Translation: AAK20398.1
GQ131806 mRNA Translation: ACS12984.1
AF151793 mRNA Translation: AAF08220.1
BT007367 mRNA Translation: AAP36031.1
AC112220 Genomic DNA No translation available.
AC123901 Genomic DNA No translation available.
BC020066 mRNA Translation: AAH20066.1
BC068454 mRNA Translation: AAH68454.1
AK002122 mRNA Translation: BAA92092.1 Different initiation.
AB037796 mRNA Translation: BAA92613.1
CCDSiCCDS2660.1 [Q8WUM4-1]
CCDS54561.1 [Q8WUM4-2]
RefSeqiNP_001155901.1, NM_001162429.2 [Q8WUM4-2]
NP_001243121.1, NM_001256192.1 [Q8WUM4-3]
NP_037506.2, NM_013374.5 [Q8WUM4-1]

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
2OEVX-ray3.30A1-698[»]
2OEWX-ray2.55A1-359[»]
2OEXX-ray2.58A/B360-702[»]
2OJQX-ray2.87A360-702[»]
2R02X-ray2.60A2-698[»]
2R03X-ray2.59A2-698[»]
2R05X-ray2.55A2-698[»]
2XS1X-ray2.30A1-698[»]
2XS8X-ray2.50A1-698[»]
2ZNEX-ray2.20C/D799-812[»]
3C3OX-ray2.15A1-359[»]
3C3QX-ray2.10A1-359[»]
3C3RX-ray2.02A1-359[»]
3E1RX-ray2.00C797-809[»]
3WUVX-ray2.79C/F/I/L/O/R796-810[»]
4JJYX-ray6.50A/B355-708[»]
5V3RX-ray1.91A1-359[»]
5WA1X-ray1.87A1-358[»]
SMRiQ8WUM4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115332, 146 interactors
ComplexPortaliCPX-3282, Syndecan-1-syntenin-1-ALIX complex
DIPiDIP-29327N
IntActiQ8WUM4, 72 interactors
MINTiQ8WUM4
STRINGi9606.ENSP00000411825

Protein family/group databases

MoonDBiQ8WUM4, Predicted

PTM databases

iPTMnetiQ8WUM4
MetOSiteiQ8WUM4
PhosphoSitePlusiQ8WUM4
SwissPalmiQ8WUM4

Polymorphism and mutation databases

BioMutaiPDCD6IP
DMDMi31076831

2D gel databases

UCD-2DPAGEiQ8WUM4

Proteomic databases

CPTACiCPTAC-419
CPTAC-420
EPDiQ8WUM4
jPOSTiQ8WUM4
MassIVEiQ8WUM4
MaxQBiQ8WUM4
PaxDbiQ8WUM4
PeptideAtlasiQ8WUM4
PRIDEiQ8WUM4
ProteomicsDBi20178
74695 [Q8WUM4-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2777, 362 antibodies

The DNASU plasmid repository

More...DNASUi		10015

Genome annotation databases

EnsembliENST00000307296; ENSP00000307387; ENSG00000170248 [Q8WUM4-1]
ENST00000457054; ENSP00000411825; ENSG00000170248 [Q8WUM4-2]
GeneIDi10015
KEGGihsa:10015
UCSCiuc003cfx.5, human [Q8WUM4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10015
DisGeNETi10015
EuPathDBiHostDB:ENSG00000170248.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		PDCD6IP
HGNCiHGNC:8766, PDCD6IP
HPAiENSG00000170248, Low tissue specificity
MIMi608074, gene
neXtProtiNX_Q8WUM4
OpenTargetsiENSG00000170248
PharmGKBiPA33116

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2220, Eukaryota
GeneTreeiENSGT01000000214627
HOGENOMiCLU_007181_2_0_1
InParanoidiQ8WUM4
KOiK12200
OMAiTKYDQHP
OrthoDBi550620at2759
PhylomeDBiQ8WUM4
TreeFamiTF323502

Enzyme and pathway databases

PathwayCommonsiQ8WUM4
ReactomeiR-HSA-162588, Budding and maturation of HIV virion
R-HSA-5210891, Uptake and function of anthrax toxins

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10015, 211 hits in 875 CRISPR screens

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

More...ChiTaRSi		PDCD6IP, human
EvolutionaryTraceiQ8WUM4

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PDCD6IP

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

More...GenomeRNAii		10015
PharosiQ8WUM4, Tbio

Protein Ontology

More...PROi		PR:Q8WUM4
RNActiQ8WUM4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170248, Expressed in corpus callosum and 238 other tissues
ExpressionAtlasiQ8WUM4, baseline and differential
GenevisibleiQ8WUM4, HS

Family and domain databases

Gene3Di1.25.40.280, 1 hit
InterProiView protein in InterPro
IPR025304, ALIX_V_dom
IPR004328, BRO1_dom
IPR038499, BRO1_sf
PfamiView protein in Pfam
PF13949, ALIX_LYPXL_bnd, 1 hit
PF03097, BRO1, 1 hit
SMARTiView protein in SMART
SM01041, BRO1, 1 hit
PROSITEiView protein in PROSITE
PS51180, BRO1, 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 nameiPDC6I_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: Q8WUM4
Secondary accession number(s): C5MQH7
, E9PFU1, Q6NUS1, Q9BX86, Q9NUN0, Q9P2H2, Q9UKL5
<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 23, 2003
Last sequence update: March 1, 2002
Last modified: August 12, 2020
This is version 192 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, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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