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Entry version 134 (13 Feb 2019)
Sequence version 1 (01 May 1999)
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Protein

Histidine protein methyltransferase 1 homolog

Gene

METTL18

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 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

Probable histidine methyltransferase.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 - Molecular functioni

  • heat shock protein binding Source: UniProtKB
  • methyltransferase activity Source: UniProtKB-KW

<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 functionMethyltransferase, Transferase
LigandS-adenosyl-L-methionine

<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:
Histidine protein methyltransferase 1 homolog (EC:2.1.1.-)
Alternative name(s):
Arsenic-transactivated protein 2
Short name:
AsTP2
Methyltransferase-like protein 18
<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:METTL18
Synonyms:ASTP2, C1orf156
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000171806.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28793 METTL18

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615255 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95568

<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

<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
92342

Open Targets

More...
OpenTargetsi
ENSG00000171806

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672407

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
METTL18

<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_00002471991 – 372Histidine protein methyltransferase 1 homologAdd BLAST372

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 residuei72PhosphoserineCombined sources1
Modified residuei77PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95568

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95568

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95568

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

More...
PaxDbi
O95568

PeptideAtlas

More...
PeptideAtlasi
O95568

PRoteomics IDEntifications database

More...
PRIDEi
O95568

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50944

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
O95568

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95568

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

More...
PhosphoSitePlusi
O95568

<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
ENSG00000171806 Expressed in 210 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95568 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95568 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035314

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GRWD1, RPL3 and members of the heat shock protein 90 and 70 families; these proteins may possibly be methylation substrates for the enzyme.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124936, 47 interactors

Protein interaction database and analysis system

More...
IntActi
O95568, 4 interactors

Molecular INTeraction database

More...
MINTi
O95568

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000307077

<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

1372
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
4RFQX-ray2.40A63-372[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95568

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

More...
SMRi
O95568

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2920 Eukaryota
ENOG4111NE8 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000464

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG053309

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O95568

Identification of Orthologs from Complete Genome Data

More...
OMAi
CKCRFFS

Database of Orthologous Groups

More...
OrthoDBi
1355837at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95568

TreeFam database of animal gene trees

More...
TreeFami
TF320884

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029063 SAM-dependent_MTases

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335 SSF53335, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O95568-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTFQFNFTIE DHLENELTPI RDGALTLDSS KELSVSESQK GEERDRKCSA
60 70 80 90 100
EQFDLPQDHL WEHKSMENAA PSQDTDSPLS AASSSRNLEP HGKQPSLRAA
110 120 130 140 150
KEHAMPKDLK KMLENKVIET LPGFQHVKLS VVKTILLKEN FPGENIVSKS
160 170 180 190 200
FSSHSDLITG VYEGGLKIWE CTFDLLAYFT KAKVKFAGKK VLDLGCGSGL
210 220 230 240 250
LGITAFKGGS KEIHFQDYNS MVIDEVTLPN VVANSTLEDE ENDVNEPDVK
260 270 280 290 300
RCRKPKVTQL YKCRFFSGEW SEFCKLVLSS EKLFVKYDLI LTSETIYNPD
310 320 330 340 350
YYSNLHQTFL RLLSKNGRVL LASKAHYFGV GGGVHLFQKF VEERDVFKTR
360 370
ILKIIDEGLK RFIIEITFKF PG
Length:372
Mass (Da):42,148
Last modified:May 1, 1999 - 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:i3F0C1599035BA8B1
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TI78Q5TI78_HUMAN
Histidine protein methyltransferase...
METTL18
184Annotation 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>

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_02708710E → D. Corresponds to variant dbSNP:rs10489177Ensembl.1
Natural variantiVAR_054050309F → L. Corresponds to variant dbSNP:rs34396097Ensembl.1
Natural variantiVAR_054051318R → H. Corresponds to variant dbSNP:rs35984232Ensembl.1
Natural variantiVAR_027088325A → V. Corresponds to variant dbSNP:rs16862686Ensembl.1
Natural variantiVAR_027089360K → M. Corresponds to variant dbSNP:rs13375701Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY744366 mRNA Translation: AAU95377.1
AL035369 mRNA Translation: CAA23019.1
CR450330 mRNA Translation: CAG29326.1
AK313909 mRNA Translation: BAG36632.1
AL021940 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90861.1
BC008679 mRNA Translation: AAH08679.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1284.1

NCBI Reference Sequences

More...
RefSeqi
NP_001307128.1, NM_001320199.1
NP_001307130.1, NM_001320201.1
NP_219486.1, NM_033418.3
XP_006711690.1, XM_006711627.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.33922

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000303469; ENSP00000307077; ENSG00000171806
ENST00000310392; ENSP00000307975; ENSG00000171806

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
92342

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:92342

UCSC genome browser

More...
UCSCi
uc001ggn.6 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
AY744366 mRNA Translation: AAU95377.1
AL035369 mRNA Translation: CAA23019.1
CR450330 mRNA Translation: CAG29326.1
AK313909 mRNA Translation: BAG36632.1
AL021940 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90861.1
BC008679 mRNA Translation: AAH08679.1
CCDSiCCDS1284.1
RefSeqiNP_001307128.1, NM_001320199.1
NP_001307130.1, NM_001320201.1
NP_219486.1, NM_033418.3
XP_006711690.1, XM_006711627.3
UniGeneiHs.33922

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RFQX-ray2.40A63-372[»]
ProteinModelPortaliO95568
SMRiO95568
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124936, 47 interactors
IntActiO95568, 4 interactors
MINTiO95568
STRINGi9606.ENSP00000307077

PTM databases

CarbonylDBiO95568
iPTMnetiO95568
PhosphoSitePlusiO95568

Polymorphism and mutation databases

BioMutaiMETTL18

Proteomic databases

EPDiO95568
jPOSTiO95568
MaxQBiO95568
PaxDbiO95568
PeptideAtlasiO95568
PRIDEiO95568
ProteomicsDBi50944

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
92342
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303469; ENSP00000307077; ENSG00000171806
ENST00000310392; ENSP00000307975; ENSG00000171806
GeneIDi92342
KEGGihsa:92342
UCSCiuc001ggn.6 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
92342
DisGeNETi92342
EuPathDBiHostDB:ENSG00000171806.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
METTL18
HGNCiHGNC:28793 METTL18
HPAiHPA035314
MIMi615255 gene
neXtProtiNX_O95568
OpenTargetsiENSG00000171806
PharmGKBiPA142672407

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2920 Eukaryota
ENOG4111NE8 LUCA
GeneTreeiENSGT00390000000464
HOVERGENiHBG053309
InParanoidiO95568
OMAiCKCRFFS
OrthoDBi1355837at2759
PhylomeDBiO95568
TreeFamiTF320884

Miscellaneous databases

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

More...
GenomeRNAii
92342

Protein Ontology

More...
PROi
PR:O95568

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171806 Expressed in 210 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiO95568 baseline and differential
GenevisibleiO95568 HS

Family and domain databases

InterProiView protein in InterPro
IPR029063 SAM-dependent_MTases
SUPFAMiSSF53335 SSF53335, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiMET18_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: O95568
Secondary accession number(s): B2R9T5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: May 1, 1999
Last modified: February 13, 2019
This is version 134 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  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
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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