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Entry version 121 (13 Nov 2019)
Sequence version 4 (18 May 2010)
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Protein

KICSTOR complex protein C12orf66

Gene

C12orf66

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

As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.1 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 - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-9639288 Amino acids regulate mTORC1

<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:
KICSTOR complex protein C12orf661 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:C12orf66Imported
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26517 C12orf66

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617420 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96MD2

<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

<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>Keywords - Cellular componenti

Lysosome, 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
144577

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162377974

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96MD2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C12orf66

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439467

<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_00003219021 – 445KICSTOR complex protein C12orf66Add BLAST445

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96MD2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96MD2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96MD2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96MD2

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

More...
PaxDbi
Q96MD2

PeptideAtlas

More...
PeptideAtlasi
Q96MD2

PRoteomics IDEntifications database

More...
PRIDEi
Q96MD2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77335

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96MD2

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

More...
PhosphoSitePlusi
Q96MD2

<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
ENSG00000174206 Expressed in 176 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96MD2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96MD2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046743
HPA052855

<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

Part of the KICSTOR complex composed of KPTN, ITFG2, C12orf66 and SZT2. SZT2 probably serves as a link between the other three proteins in the KICSTOR complex and may mediate the direct interaction with the GATOR complex via GATOR1. The KICSTOR complex interacts directly with the GATOR1 complex and most probably indirectly with the GATOR2 complexe in an amino acid-independent manner.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126862, 10 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q96MD2

Protein interaction database and analysis system

More...
IntActi
Q96MD2, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000311486

<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

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

More...
SMRi
Q96MD2

Database of comparative protein structure models

More...
ModBasei
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 UPF0536 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIK7 Eukaryota
ENOG41109T1 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000082532

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96MD2

KEGG Orthology (KO)

More...
KOi
K23297

Database of Orthologous Groups

More...
OrthoDBi
365605at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96MD2

TreeFam database of animal gene trees

More...
TreeFami
TF329125

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.3450.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR018544 C12orf66-like
IPR038060 C12orf66-like_central_sf

The PANTHER Classification System

More...
PANTHERi
PTHR31581 PTHR31581, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09404 C12orf66_like, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF158548 SSF158548, 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>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 2 potential isoforms that are computationally mapped.Show allAlign All

Q96MD2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGESIPLAAP VPVEQAVLET FFSHLGIFSY DKAKDNVEKE REANKSAGGS
60 70 80 90 100
WLSLLAALAH LAAAEKVYHS LTYLGQKLGG QSFFSRKDSI RTIYTSLHNE
110 120 130 140 150
LKKVVTGRGA LGGTAPHVEE LLSHLSEQLC FFVQARMEMA DFYEKMYTLS
160 170 180 190 200
TQKFINAEEL VGLLDAIMKK YSSRFHHPIL SPLESSFQLE VDVLCHLLKA
210 220 230 240 250
QAQVSEWKFL PSLVNLHSAH TKLQTWGQIF EKQRETKKHL FGGQSQKAVQ
260 270 280 290 300
PPHLFLWLMK LKNMLLAKFS FYFHEALSRQ TTASEMKTLT AKANPDFFGK
310 320 330 340 350
ISSFIRKYDA ANVSLIFDNR GSESFQGHGY HHPHSYREAP KGVDQYPAVV
360 370 380 390 400
SLPSDRPVMH WPNVIMIMTD RTSDLNSLEK VVHFYDDKVQ STYFLTRPEP
410 420 430 440
HFTIVIIFES KKSERDSHFI SFLNEVSLAL KNPKVFASLK PGAKG
Length:445
Mass (Da):50,415
Last modified:May 18, 2010 - v4
<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:iE61D982C4BA04A6A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNH0J3KNH0_HUMAN
KICSTOR complex protein C12orf66
C12orf66
468Annotation 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>
F5H2Q3F5H2Q3_HUMAN
KICSTOR complex protein C12orf66
C12orf66
392Annotation 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_039371139M → I3 PublicationsCorresponds to variant dbSNP:rs2335390Ensembl.1
Natural variantiVAR_039372443A → S3 PublicationsCorresponds to variant dbSNP:rs699638Ensembl.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
AK057111 mRNA Translation: BAB71367.1
AC012158 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97124.1
BC071634 mRNA Translation: AAH71634.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41803.1

NCBI Reference Sequences

More...
RefSeqi
NP_689653.3, NM_152440.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000398055; ENSP00000381132; ENSG00000174206

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
144577

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:144577

UCSC genome browser

More...
UCSCi
uc001srw.5 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
AK057111 mRNA Translation: BAB71367.1
AC012158 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97124.1
BC071634 mRNA Translation: AAH71634.1
CCDSiCCDS41803.1
RefSeqiNP_689653.3, NM_152440.4

3D structure databases

SMRiQ96MD2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi126862, 10 interactors
CORUMiQ96MD2
IntActiQ96MD2, 5 interactors
STRINGi9606.ENSP00000311486

PTM databases

iPTMnetiQ96MD2
PhosphoSitePlusiQ96MD2

Polymorphism and mutation databases

BioMutaiC12orf66
DMDMi296439467

Proteomic databases

EPDiQ96MD2
jPOSTiQ96MD2
MassIVEiQ96MD2
MaxQBiQ96MD2
PaxDbiQ96MD2
PeptideAtlasiQ96MD2
PRIDEiQ96MD2
ProteomicsDBi77335

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
144577

Genome annotation databases

EnsembliENST00000398055; ENSP00000381132; ENSG00000174206
GeneIDi144577
KEGGihsa:144577
UCSCiuc001srw.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
144577
DisGeNETi144577

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C12orf66
HGNCiHGNC:26517 C12orf66
HPAiHPA046743
HPA052855
MIMi617420 gene
neXtProtiNX_Q96MD2
PharmGKBiPA162377974

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIK7 Eukaryota
ENOG41109T1 LUCA
HOGENOMiHOG000082532
InParanoidiQ96MD2
KOiK23297
OrthoDBi365605at2759
PhylomeDBiQ96MD2
TreeFamiTF329125

Enzyme and pathway databases

ReactomeiR-HSA-9639288 Amino acids regulate mTORC1

Miscellaneous databases

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

More...
ChiTaRSi
C12orf66 human

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

More...
GenomeRNAii
144577
PharosiQ96MD2

Protein Ontology

More...
PROi
PR:Q96MD2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000174206 Expressed in 176 organ(s), highest expression level in liver
ExpressionAtlasiQ96MD2 baseline and differential
GenevisibleiQ96MD2 HS

Family and domain databases

Gene3Di1.10.3450.30, 1 hit
InterProiView protein in InterPro
IPR018544 C12orf66-like
IPR038060 C12orf66-like_central_sf
PANTHERiPTHR31581 PTHR31581, 1 hit
PfamiView protein in Pfam
PF09404 C12orf66_like, 1 hit
SUPFAMiSSF158548 SSF158548, 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 nameiCL066_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: Q96MD2
Secondary accession number(s): C9JX54, Q8IYA0
<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: February 26, 2008
Last sequence update: May 18, 2010
Last modified: November 13, 2019
This is version 121 of the entry and version 4 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. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  2. Human chromosome 12
    Human chromosome 12: 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. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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