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Protein

D-aminoacyl-tRNA deacylase 2

Gene

DTD2

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

Deacylates mischarged D-aminoacyl-tRNAs (By similarity). Probably acts by rejecting L-amino acids from its binding site rather than specific recognition of D-amino acids (By similarity). Catalyzes the hydrolysis of D-tyrosyl-tRNA(Tyr), has no activity on correctly charged L-tyrosyl-tRNA(Tyr) (By similarity). By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality. In contrast to DTD1, deacylates L-Ala mischarged on tRNA(Thr)(G4.U69) by alanine-tRNA ligase AARS (PubMed:29410408). Can deacylate L-Ala due to a relaxed specificity for substrate chirality caused by the trans conformation of the Gly-Pro motif in the active site (PubMed:29410408). Also hydrolyzes correctly charged, achiral, glycyl-tRNA(Gly) in vitro, although in vivo EEF1A1/EF-Tu may protect cognate achiral glycyl-tRNA(Gly) from DTD2-mediated deacetylation (By similarity).By similarity1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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

  • Ala-tRNA(Thr) hydrolase activity Source: UniProtKB
  • aminoacyl-tRNA editing activity Source: GO_Central
  • D-tyrosyl-tRNA(Tyr) deacylase activity Source: GO_Central
  • tRNA binding Source: UniProtKB-KW

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 functionHydrolase, RNA-binding, tRNA-binding

<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:
D-aminoacyl-tRNA deacylase 2Curated (EC:3.1.1.96By similarity)
Alternative name(s):
Animalia-specific tRNA deacylase1 Publication
Short name:
ATD1 Publication
D-tyrosyl-tRNA(Tyr) deacylase 2Curated
L-alanyl-tRNA deacylase1 Publication (EC:3.1.1.-1 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:DTD2
Synonyms:C14orf126
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000129480.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20277 DTD2

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96FN9

<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

Keywords - Cellular componenti

Cytoplasm

<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
ENSG00000129480

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134963117

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DTD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74731729

<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_00002540491 – 168D-aminoacyl-tRNA deacylase 2Add BLAST168

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96FN9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96FN9

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

More...
PaxDbi
Q96FN9

PeptideAtlas

More...
PeptideAtlasi
Q96FN9

PRoteomics IDEntifications database

More...
PRIDEi
Q96FN9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
76548

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96FN9

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

More...
PhosphoSitePlusi
Q96FN9

<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
ENSG00000129480 Expressed in 189 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_C14orf126

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96FN9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96FN9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA001117

<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

Homodimer.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125191, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312224

<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
Q96FN9

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

More...
SMRi
Q96FN9

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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi160 – 161Gly-transPro motif, allows the protein to recognize chirality of D-amino acidsBy similarity2

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A Gly-transPro motif from one monomer fits into the active site of the other monomer to allow specific chiral rejection of most L-amino acids except L-Ala. The trans conformation of the motif is maintained by Arg-151.By similarity

<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 DTD family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3323 Eukaryota
COG1490 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153431

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113983

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG081465

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96FN9

KEGG Orthology (KO)

More...
KOi
K07560

Identification of Orthologs from Complete Genome Data

More...
OMAi
VIYICFF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0WKW

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96FN9

TreeFam database of animal gene trees

More...
TreeFami
TF329119

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.50.80.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003732 Daa-tRNA_deacyls_DTD
IPR023509 DTD-like_sf

The PANTHER Classification System

More...
PANTHERi
PTHR10472 PTHR10472, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02580 Tyr_Deacylase, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF69500 SSF69500, 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

Q96FN9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEGSRIPQA RALLQQCLHA RLQIRPADGD VAAQWVEVQR GLVIYVCFFK
60 70 80 90 100
GADKELLPKM VNTLLNVKLS ETENGKHVSI LDLPGNILII PQATLGGRLK
110 120 130 140 150
GRNMQYHSNS GKEEGFELYS QFVTLCEKEV AANSKCAEAR VVVEHGTYGN
160
RQVLKLDTNG PFTHLIEF
Length:168
Mass (Da):18,660
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF74D05F238C8D0A9
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
F8VVE1F8VVE1_HUMAN
D-aminoacyl-tRNA deacylase 2
DTD2
68Annotation 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_0288026R → W. Corresponds to variant dbSNP:rs17097904Ensembl.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
AL139353 Genomic DNA No translation available.
AL163973 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65944.1
CH471078 Genomic DNA Translation: EAW65945.1
BC010618 mRNA Translation: AAH10618.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9643.1

NCBI Reference Sequences

More...
RefSeqi
NP_542395.1, NM_080664.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.116014

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000310850; ENSP00000312224; ENSG00000129480
ENST00000356180; ENSP00000348503; ENSG00000129480

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
112487

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:112487

UCSC genome browser

More...
UCSCi
uc001wrj.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
AL139353 Genomic DNA No translation available.
AL163973 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65944.1
CH471078 Genomic DNA Translation: EAW65945.1
BC010618 mRNA Translation: AAH10618.1
CCDSiCCDS9643.1
RefSeqiNP_542395.1, NM_080664.2
UniGeneiHs.116014

3D structure databases

ProteinModelPortaliQ96FN9
SMRiQ96FN9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125191, 3 interactors
STRINGi9606.ENSP00000312224

PTM databases

iPTMnetiQ96FN9
PhosphoSitePlusiQ96FN9

Polymorphism and mutation databases

BioMutaiDTD2
DMDMi74731729

Proteomic databases

EPDiQ96FN9
MaxQBiQ96FN9
PaxDbiQ96FN9
PeptideAtlasiQ96FN9
PRIDEiQ96FN9
ProteomicsDBi76548

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310850; ENSP00000312224; ENSG00000129480
ENST00000356180; ENSP00000348503; ENSG00000129480
GeneIDi112487
KEGGihsa:112487
UCSCiuc001wrj.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
112487
EuPathDBiHostDB:ENSG00000129480.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DTD2
HGNCiHGNC:20277 DTD2
HPAiHPA001117
neXtProtiNX_Q96FN9
OpenTargetsiENSG00000129480
PharmGKBiPA134963117

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3323 Eukaryota
COG1490 LUCA
GeneTreeiENSGT00940000153431
HOGENOMiHOG000113983
HOVERGENiHBG081465
InParanoidiQ96FN9
KOiK07560
OMAiVIYICFF
OrthoDBiEOG091G0WKW
PhylomeDBiQ96FN9
TreeFamiTF329119

Miscellaneous databases

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

More...
GenomeRNAii
112487

Protein Ontology

More...
PROi
PR:Q96FN9

Gene expression databases

BgeeiENSG00000129480 Expressed in 189 organ(s), highest expression level in testis
CleanExiHS_C14orf126
ExpressionAtlasiQ96FN9 baseline and differential
GenevisibleiQ96FN9 HS

Family and domain databases

Gene3Di3.50.80.10, 1 hit
InterProiView protein in InterPro
IPR003732 Daa-tRNA_deacyls_DTD
IPR023509 DTD-like_sf
PANTHERiPTHR10472 PTHR10472, 1 hit
PfamiView protein in Pfam
PF02580 Tyr_Deacylase, 1 hit
SUPFAMiSSF69500 SSF69500, 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 nameiDTD2_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: Q96FN9
Secondary accession number(s): D3DS87
<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: October 31, 2006
Last sequence update: December 1, 2001
Last modified: December 5, 2018
This is version 115 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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