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UniProtKB - Q96FX8 (PERP_HUMAN)

Entry version 135 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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Protein

p53 apoptosis effector related to PMP-22

Gene

PERP

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 transcript 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

Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity).By similarity

<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 - 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 adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
R-HSA-6809371 Formation of the cornified envelope

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96FX8

<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:
p53 apoptosis effector related to PMP-22
Alternative name(s):
Keratinocyte-associated protein 1
Short name:
KCP-1
P53-induced protein PIGPC1
Transmembrane protein THW
<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:PERP
Synonyms:KCP1, KRTCAP1, PIGPC1, THW
<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 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_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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17637 PERP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609301 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96FX8

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei12 – 32HelicalSequence analysisAdd BLAST21
Transmembranei79 – 99HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Transmembranei151 – 171HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		64065

Open Targets

More...OpenTargetsi		ENSG00000112378

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

More...Orphaneti		659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134944221

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96FX8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PERP

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751865

<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_00002269941 – 193p53 apoptosis effector related to PMP-22Add BLAST193

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96FX8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96FX8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96FX8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96FX8

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

More...PaxDbi		Q96FX8

PeptideAtlas

More...PeptideAtlasi		Q96FX8

PRoteomics IDEntifications database

More...PRIDEi		Q96FX8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76571

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96FX8

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q96FX8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112378 Expressed in 218 organ(s), highest expression level in zone of skin

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96FX8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA022269

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		122038, 1 interactor

Protein interaction database and analysis system

More...IntActi		Q96FX8, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000397157

<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 TMEM47 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4671 Eukaryota
ENOG4111P5K LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063484

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96FX8

KEGG Orthology (KO)

More...KOi		K10136

Identification of Orthologs from Complete Genome Data

More...OMAi		SHYASMW

Database of Orthologous Groups

More...OrthoDBi		1307601at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96FX8

TreeFam database of animal gene trees

More...TreeFami		TF312855

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR015664 P53_induced
IPR004031 PMP22/EMP/MP20/Claudin

The PANTHER Classification System

More...PANTHERi		PTHR14399 PTHR14399, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00822 PMP22_Claudin, 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>Sequencei

<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.

Q96FX8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSD HGQTSSLWWK 
        60         70         80         90        100
CSQEGGGSGS YEEGCQSLME YAWGRAAAAM LFCGFIILVI CFILSFFALC 
       110        120        130        140        150
GPQMLVFLRV IGGLLALAAV FQIISLVIYP VKYTQTFTLH ANPAVTYIYN 
       160        170        180        190 
WAYGFGWAAT IILIGCAFFF CCLPNYEDDL LGNAKPRYFY TSA
Length:193
Mass (Da):21,386
Last modified:December 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:i69654E35C53B3FCE
GO

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 conflicti4 – 7Missing in BAC05205 (PubMed:14702039).Curated4
Sequence conflicti178D → E in BAC11390 (PubMed:16303743).Curated1
Sequence conflicti193A → G in AAO13162 (PubMed:12752121).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_052341143P → R2 PublicationsCorresponds to variant dbSNP:rs648802Ensembl.1
Natural variantiVAR_070891174P → L2 PublicationsCorresponds to variant dbSNP:rs75183345Ensembl.1

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
AJ251830 mRNA Translation: CAC17766.1
AY157578 mRNA Translation: AAO13162.1
AF317550 mRNA Translation: AAG35063.1
AK097958 mRNA Translation: BAC05205.1
AK074585 mRNA Translation: BAC11074.1
AK075082 mRNA Translation: BAC11390.1
AK314526 mRNA Translation: BAG37120.1
AL355362 Genomic DNA No translation available.
AL023582 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47920.1
CH471051 Genomic DNA Translation: EAW47921.1
BC010163 mRNA Translation: AAH10163.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5188.1

NCBI Reference Sequences

More...RefSeqi		NP_071404.2, NM_022121.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000421351; ENSP00000397157; ENSG00000112378

Database of genes from NCBI RefSeq genomes

More...GeneIDi		64065

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:64065

UCSC genome browser

More...UCSCi		uc003qht.3 human

Keywords - Coding sequence diversityi

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
AJ251830 mRNA Translation: CAC17766.1
AY157578 mRNA Translation: AAO13162.1
AF317550 mRNA Translation: AAG35063.1
AK097958 mRNA Translation: BAC05205.1
AK074585 mRNA Translation: BAC11074.1
AK075082 mRNA Translation: BAC11390.1
AK314526 mRNA Translation: BAG37120.1
AL355362 Genomic DNA No translation available.
AL023582 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47920.1
CH471051 Genomic DNA Translation: EAW47921.1
BC010163 mRNA Translation: AAH10163.1
CCDSiCCDS5188.1
RefSeqiNP_071404.2, NM_022121.4

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi122038, 1 interactor
IntActiQ96FX8, 2 interactors
STRINGi9606.ENSP00000397157

PTM databases

iPTMnetiQ96FX8
SwissPalmiQ96FX8

Polymorphism and mutation databases

BioMutaiPERP
DMDMi74751865

Proteomic databases

EPDiQ96FX8
jPOSTiQ96FX8
MassIVEiQ96FX8
MaxQBiQ96FX8
PaxDbiQ96FX8
PeptideAtlasiQ96FX8
PRIDEiQ96FX8
ProteomicsDBi76571

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		64065

Genome annotation databases

EnsembliENST00000421351; ENSP00000397157; ENSG00000112378
GeneIDi64065
KEGGihsa:64065
UCSCiuc003qht.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		64065
DisGeNETi64065

GeneCards: human genes, protein and diseases

More...GeneCardsi		PERP
HGNCiHGNC:17637 PERP
HPAiHPA022269
MIMi609301 gene
neXtProtiNX_Q96FX8
OpenTargetsiENSG00000112378
Orphaneti659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
PharmGKBiPA134944221

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4671 Eukaryota
ENOG4111P5K LUCA
GeneTreeiENSGT00530000063484
InParanoidiQ96FX8
KOiK10136
OMAiSHYASMW
OrthoDBi1307601at2759
PhylomeDBiQ96FX8
TreeFamiTF312855

Enzyme and pathway databases

ReactomeiR-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
R-HSA-6809371 Formation of the cornified envelope
SIGNORiQ96FX8

Miscellaneous databases

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

More...ChiTaRSi		PERP human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PERP

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

More...GenomeRNAii		64065
PharosiQ96FX8

Protein Ontology

More...PROi		PR:Q96FX8

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112378 Expressed in 218 organ(s), highest expression level in zone of skin
GenevisibleiQ96FX8 HS

Family and domain databases

InterProiView protein in InterPro
IPR015664 P53_induced
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR14399 PTHR14399, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 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 nameiPERP_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: Q96FX8
Secondary accession number(s): B2RB73
, E1P590, Q8IWS3, Q8N1J6, Q8NC16, Q9H1C5, Q9H230
<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: March 7, 2006
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 135 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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