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Entry version 98 (13 Feb 2019)
Sequence version 1 (15 Dec 2003)
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Protein

Proton channel OTOP1

Gene

OTOP1

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

Proton-selective channel that specifically transports protons into cells (PubMed:29371428). Proton channel activity is only weakly-sensitive to voltage (By similarity). Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes (PubMed:29371428). In the vestibular system of the inner ear, required for the formation and function of otoconia, which are calcium carbonate crystals that sense gravity and acceleration (By similarity). Probably acts by maintaining the pH appropriate for formation of otoconia (By similarity). Regulates purinergic control of intracellular calcium in vestibular supporting cells (By similarity). May be involved in sour taste perception in sour taste cells by mediating entry of protons within the cytosol (By similarity). Also involved in energy metabolism, by reducing adipose tissue inflammation and protecting from obesity-induced metabolic dysfunction (By similarity).By similarity1 Publication

<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

  • proton channel activity Source: UniProtKB

GO - Biological processi

<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 functionIon channel
Biological processBiomineralization, Hydrogen ion transport, Ion transport, Transport

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.110.1.2 the channel-forming otopetrin (otop) family

<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:
Proton channel OTOP1Curated
Alternative name(s):
Otopetrin-11 Publication
Short name:
hOtop11 Publication
<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:OTOP11 PublicationImported
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000163982.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19656 OTOP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607806 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7RTM1

<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; 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>Transmembranei67 – 87HelicalSequence analysisAdd BLAST21
Transmembranei92 – 112HelicalSequence analysisAdd BLAST21
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21
Transmembranei346 – 366HelicalSequence analysisAdd BLAST21
Transmembranei393 – 413HelicalSequence analysisAdd BLAST21
Transmembranei424 – 444HelicalSequence analysisAdd BLAST21
Transmembranei545 – 565HelicalSequence analysisAdd BLAST21
Transmembranei576 – 596HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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
133060

Open Targets

More...
OpenTargetsi
ENSG00000163982

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134883507

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OTOP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74713136

<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_00003138161 – 612Proton channel OTOP1Add BLAST612

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7RTM1

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

More...
PaxDbi
Q7RTM1

PRoteomics IDEntifications database

More...
PRIDEi
Q7RTM1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68872

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7RTM1

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

More...
PhosphoSitePlusi
Q7RTM1

<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
ENSG00000163982 Expressed in 8 organ(s), highest expression level in skin of leg

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035599

<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

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000296358

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q7RTM1

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

Belongs to the otopetrin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4740 Eukaryota
ENOG410XVS5 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159350

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000090257

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG108223

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7RTM1

Identification of Orthologs from Complete Genome Data

More...
OMAi
PQYDNGL

Database of Orthologous Groups

More...
OrthoDBi
524642at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7RTM1

TreeFam database of animal gene trees

More...
TreeFami
TF313428

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004878 Otopetrin

The PANTHER Classification System

More...
PANTHERi
PTHR21522 PTHR21522, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03189 Otopetrin, 3 hits

<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>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.

Q7RTM1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLEGLGSPAS PRAAASASVA GSSGPAACSP PSSSAPRSPE SPAPRRGGVR
60 70 80 90 100
ASVPQKLAEM LSSQYGLIVF VAGLLLLLAW AVHAAGVSKS DLLCFLTALM
110 120 130 140 150
LLQLLWMLWY VGRSSAHRRL FRLKDTHAGA GWLRGSITLF AVITVILGCL
160 170 180 190 200
KIGYFIGFSE CLSATEGVFP VTHSVHTLLQ VYFLWGHAKD IIQSFKTLER
210 220 230 240 250
FGVIHSVFTN LLLWANGVLN ESKHQLNEHK ERLITLGFGN ITTVLDDHTP
260 270 280 290 300
QCNCTPPTLC TAISHGIYYL YPFNIEYQIL ASTMLYVLWK NIGRKVDSHQ
310 320 330 340 350
HQKMQFKSDG VMVGAVLGLT VLAATIAVVV VYLIHIGRSK TKSESALIMF
360 370 380 390 400
YLYAITLLML MGAAGLAGIR IYRIDEKSLD ESKNPARKLD SDLLVGTASG
410 420 430 440 450
SWLISWGSIL AILCAEGHPR YTWYNLPYSI LAIVEKYIQN LFIFESIHRE
460 470 480 490 500
PEKLSEDIQT LRVVTVCNGN TMPLASSCPK SGGVARDVAP QGKDMPPAAN
510 520 530 540 550
GNVCMRESHD KEEEKQEESS WGGSPSPVRL PRFLQGNAKR KVLRNIAAFL
560 570 580 590 600
FLCNISLWIP PAFGCRPEYD NGLEEIVFGF EPWIIVVNLA MPFSIFYRMH
610
AAASLFEVYC KI
Length:612
Mass (Da):67,353
Last modified:December 15, 2003 - 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:i7EF5C9F676D20D0F
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 conflicti40E → K in AAI30431 (PubMed:15489334).Curated1
Sequence conflicti40E → K in AAI30433 (PubMed:15489334).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_037755241I → V. Corresponds to variant dbSNP:rs28394859Ensembl.1
Natural variantiVAR_037756309D → E. Corresponds to variant dbSNP:rs2916414Ensembl.1
Natural variantiVAR_037757434V → M. Corresponds to variant dbSNP:rs11736799Ensembl.1
Natural variantiVAR_037758493K → T. Corresponds to variant dbSNP:rs34666677Ensembl.1
Natural variantiVAR_037759516Q → H. Corresponds to variant dbSNP:rs35106142Ensembl.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
BC130430 mRNA Translation: AAI30431.1
BC130432 mRNA Translation: AAI30433.1
BK000653 mRNA Translation: DAA00901.1
BK000654 Genomic DNA Translation: DAA00902.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3372.1

NCBI Reference Sequences

More...
RefSeqi
NP_819056.1, NM_177998.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.534544

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000296358; ENSP00000296358; ENSG00000163982

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
133060

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:133060

UCSC genome browser

More...
UCSCi
uc003ghp.2 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

Ear of stone - Issue 89 of December 2007

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC130430 mRNA Translation: AAI30431.1
BC130432 mRNA Translation: AAI30433.1
BK000653 mRNA Translation: DAA00901.1
BK000654 Genomic DNA Translation: DAA00902.1
CCDSiCCDS3372.1
RefSeqiNP_819056.1, NM_177998.1
UniGeneiHs.534544

3D structure databases

ProteinModelPortaliQ7RTM1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000296358

Protein family/group databases

TCDBi1.A.110.1.2 the channel-forming otopetrin (otop) family

PTM databases

iPTMnetiQ7RTM1
PhosphoSitePlusiQ7RTM1

Polymorphism and mutation databases

BioMutaiOTOP1
DMDMi74713136

Proteomic databases

jPOSTiQ7RTM1
PaxDbiQ7RTM1
PRIDEiQ7RTM1
ProteomicsDBi68872

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296358; ENSP00000296358; ENSG00000163982
GeneIDi133060
KEGGihsa:133060
UCSCiuc003ghp.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
133060
DisGeNETi133060
EuPathDBiHostDB:ENSG00000163982.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OTOP1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0031520
HGNCiHGNC:19656 OTOP1
HPAiHPA035599
MIMi607806 gene
neXtProtiNX_Q7RTM1
OpenTargetsiENSG00000163982
PharmGKBiPA134883507

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4740 Eukaryota
ENOG410XVS5 LUCA
GeneTreeiENSGT00940000159350
HOGENOMiHOG000090257
HOVERGENiHBG108223
InParanoidiQ7RTM1
OMAiPQYDNGL
OrthoDBi524642at2759
PhylomeDBiQ7RTM1
TreeFamiTF313428

Miscellaneous databases

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

More...
GenomeRNAii
133060

Protein Ontology

More...
PROi
PR:Q7RTM1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163982 Expressed in 8 organ(s), highest expression level in skin of leg

Family and domain databases

InterProiView protein in InterPro
IPR004878 Otopetrin
PANTHERiPTHR21522 PTHR21522, 1 hit
PfamiView protein in Pfam
PF03189 Otopetrin, 3 hits

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 nameiOTOP1_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: Q7RTM1
Secondary accession number(s): A1L476
<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: January 15, 2008
Last sequence update: December 15, 2003
Last modified: February 13, 2019
This is version 98 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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