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UniProtKB - Q8WW27 (ABEC4_HUMAN)

Entry version 125 (02 Dec 2020)
Sequence version 1 (01 Mar 2002)
Previous versions | rss
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Protein

Putative C->U-editing enzyme APOBEC-4

Gene

APOBEC4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

Putative C to U editing enzyme whose physiological substrate is not yet known.By similarity

<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

Zn2+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 indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi93Zinc; catalyticBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei95Proton donorBy similarity1
Metal bindingi127Zinc; catalyticBy similarity1
Metal bindingi134Zinc; catalyticBy similarity1

<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 functionHydrolase
Biological processmRNA processing
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WW27

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-72200, mRNA Editing: C to U Conversion
R-HSA-75094, Formation of the Editosome

<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:
Putative C->U-editing enzyme APOBEC-4 (EC:3.5.4.-)
Alternative name(s):
Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4
<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:APOBEC4
Synonyms:C1orf169
<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 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000173627.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:32152, APOBEC4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609908, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WW27

<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

Open Targets

More...OpenTargetsi		ENSG00000173627

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672597

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WW27, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		APOBEC4

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751569

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002393551 – 367Putative C->U-editing enzyme APOBEC-4Add BLAST367

Proteomic databases

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

More...PaxDbi		Q8WW27

PeptideAtlas

More...PeptideAtlasi		Q8WW27

PRoteomics IDEntifications database

More...PRIDEi		Q8WW27

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74852

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WW27

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

More...PhosphoSitePlusi		Q8WW27

<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

Predominantly expressed in testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000173627, Expressed in testis and 50 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WW27, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000173627, Tissue enhanced (fallopian tube, testis)

<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		135625, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000310622

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WW27, protein

<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>Domaini61 – 177CMP/dCMP-type deaminasePROSITE-ProRule annotationAdd BLAST117

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 biasi299 – 314Leu-richAdd BLAST16

<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 cytidine and deoxycytidylate deaminase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QQXT, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000014243

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_832944_0_0_1

Identification of Orthologs from Complete Genome Data

More...OMAi		SQLYHTE

Database of Orthologous Groups

More...OrthoDBi		1149880at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WW27

TreeFam database of animal gene trees

More...TreeFami		TF338173

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR038953, APOBEC4
IPR013158, APOBEC_N
IPR002125, CMP_dCMP_dom

The PANTHER Classification System

More...PANTHERi		PTHR35672, PTHR35672, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08210, APOBEC_N, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51747, CYT_DCMP_DEAMINASES_2, 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>Sequencei

<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.

Q8WW27-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEPIYEEYLA NHGTIVKPYY WLSFSLDCSN CPYHIRTGEE ARVSLTEFCQ 
        60         70         80         90        100
IFGFPYGTTF PQTKHLTFYE LKTSSGSLVQ KGHASSCTGN YIHPESMLFE 
       110        120        130        140        150
MNGYLDSAIY NNDSIRHIIL YSNNSPCNEA NHCCISKMYN FLITYPGITL 
       160        170        180        190        200
SIYFSQLYHT EMDFPASAWN REALRSLASL WPRVVLSPIS GGIWHSVLHS 
       210        220        230        240        250
FISGVSGSHV FQPILTGRAL ADRHNAYEIN AITGVKPYFT DVLLQTKRNP 
       260        270        280        290        300
NTKAQEALES YPLNNAFPGQ FFQMPSGQLQ PNLPPDLRAP VVFVLVPLRD 
       310        320        330        340        350
LPPMHMGQNP NKPRNIVRHL NMPQMSFQET KDLGRLPTGR SVEIVEITEQ 
       360 
FASSKEADEK KKKKGKK
Length:367
Mass (Da):41,581
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:iB5ACD9AB875482C6
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_02663975S → F. Corresponds to variant dbSNP:rs16861394Ensembl.1
Natural variantiVAR_026640271F → S1 PublicationCorresponds to variant dbSNP:rs1174658Ensembl.1
Natural variantiVAR_026641275P → S. Corresponds to variant dbSNP:rs10911391Ensembl.1
Natural variantiVAR_048724300D → G. Corresponds to variant dbSNP:rs16861381EnsemblClinVar.1
Natural variantiVAR_026642331K → E1 PublicationCorresponds to variant dbSNP:rs1174657Ensembl.1
Natural variantiVAR_026643345V → M. Corresponds to variant dbSNP:rs10911390Ensembl.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
AK098557 mRNA Translation: BAC05332.1
AL137800 Genomic DNA No translation available.
BC021711 mRNA Translation: AAH21711.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1358.1

NCBI Reference Sequences

More...RefSeqi		NP_982279.1, NM_203454.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000308641; ENSP00000310622; ENSG00000173627

Database of genes from NCBI RefSeq genomes

More...GeneIDi		403314

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:403314

UCSC genome browser

More...UCSCi		uc001gqn.4, 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
AK098557 mRNA Translation: BAC05332.1
AL137800 Genomic DNA No translation available.
BC021711 mRNA Translation: AAH21711.1
CCDSiCCDS1358.1
RefSeqiNP_982279.1, NM_203454.2

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

BioGRIDi135625, 1 interactor
STRINGi9606.ENSP00000310622

PTM databases

iPTMnetiQ8WW27
PhosphoSitePlusiQ8WW27

Polymorphism and mutation databases

BioMutaiAPOBEC4
DMDMi74751569

Proteomic databases

PaxDbiQ8WW27
PeptideAtlasiQ8WW27
PRIDEiQ8WW27
ProteomicsDBi74852

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2817, 241 antibodies

The DNASU plasmid repository

More...DNASUi		403314

Genome annotation databases

EnsembliENST00000308641; ENSP00000310622; ENSG00000173627
GeneIDi403314
KEGGihsa:403314
UCSCiuc001gqn.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		403314
EuPathDBiHostDB:ENSG00000173627.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		APOBEC4
HGNCiHGNC:32152, APOBEC4
HPAiENSG00000173627, Tissue enhanced (fallopian tube, testis)
MIMi609908, gene
neXtProtiNX_Q8WW27
OpenTargetsiENSG00000173627
PharmGKBiPA142672597

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QQXT, Eukaryota
GeneTreeiENSGT00390000014243
HOGENOMiCLU_832944_0_0_1
OMAiSQLYHTE
OrthoDBi1149880at2759
PhylomeDBiQ8WW27
TreeFamiTF338173

Enzyme and pathway databases

PathwayCommonsiQ8WW27
ReactomeiR-HSA-72200, mRNA Editing: C to U Conversion
R-HSA-75094, Formation of the Editosome

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		403314, 23 hits in 843 CRISPR screens

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

More...ChiTaRSi		APOBEC4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		APOBEC4

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

More...GenomeRNAii		403314
PharosiQ8WW27, Tdark

Protein Ontology

More...PROi		PR:Q8WW27
RNActiQ8WW27, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000173627, Expressed in testis and 50 other tissues
GenevisibleiQ8WW27, HS

Family and domain databases

InterProiView protein in InterPro
IPR038953, APOBEC4
IPR013158, APOBEC_N
IPR002125, CMP_dCMP_dom
PANTHERiPTHR35672, PTHR35672, 1 hit
PfamiView protein in Pfam
PF08210, APOBEC_N, 1 hit
PROSITEiView protein in PROSITE
PS51747, CYT_DCMP_DEAMINASES_2, 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 nameiABEC4_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: Q8WW27
Secondary accession number(s): Q8N7F6
<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: June 13, 2006
Last sequence update: March 1, 2002
Last modified: December 2, 2020
This is version 125 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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