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Entry version 116 (13 Feb 2019)
Sequence version 3 (11 Jan 2011)
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Protein

Nucleoporin-62 C-terminal-like protein

Gene

NUP62CL

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

Annotation score:3 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

<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

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

Biological processProtein transport, Transport

<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:
Nucleoporin-62 C-terminal-like protein
<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:NUP62CL
Synonyms:NUP62L
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000198088.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25960 NUP62CL

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H1M0

<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>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
ENSG00000198088

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145148360

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NUP62CL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373409

<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_00002578341 – 184Nucleoporin-62 C-terminal-like proteinAdd BLAST184

Proteomic databases

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

More...
PaxDbi
Q9H1M0

PRoteomics IDEntifications database

More...
PRIDEi
Q9H1M0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80427
80428 [Q9H1M0-2]

PTM databases

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

More...
PhosphoSitePlusi
Q9H1M0

<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
ENSG00000198088 Expressed in 126 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H1M0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H1M0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA001884

<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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120184, 30 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H1M0, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000361544

<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
Q9H1M0

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

More...
SMRi
Q9H1M0

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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili117 – 151Sequence analysisAdd BLAST35

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi11 – 43Thr-richAdd BLAST33

<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 nucleoporin NSP1/NUP62 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2196 Eukaryota
ENOG410XT5X LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162863

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000171766

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG082003

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H1M0

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H1M0

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026010 NSP1/NUP62
IPR007758 Nucleoporin_NSP1_C

The PANTHER Classification System

More...
PANTHERi
PTHR12084 PTHR12084, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05064 Nsp1_C, 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>Sequences (2+)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H1M0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQFTSISNSL TSTAAIGLSF TTSTTTTATF TTNTTTTITS GFTVNQNQLL
60 70 80 90 100
SRGFENLVPY TSTVSVVATP VMTYGHLEGL INEWNLELED QEKYFLLQAT
110 120 130 140 150
QVNAWDHTLI ENGEMIRILH GEVNKVKLDQ KRLEQELDFI LSQQQELEFL
160 170 180
LTYLEESTRD QSGLHYLQDA DEEHVEISTR SAEF
Length:184
Mass (Da):20,837
Last modified:January 11, 2011 - v3
<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:iAF5CA4AC5DCEB344
GO
Isoform 2 (identifier: Q9H1M0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-72: SVVATPVM → RFVFYMEK
     73-184: Missing.

Show »
Length:72
Mass (Da):7,880
Checksum:i0B88E1359C41F611
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
H0Y6X7H0Y6X7_HUMAN
Nucleoporin-62 C-terminal-like prot...
NUP62CL
198Annotation 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>
Q5JSN5Q5JSN5_HUMAN
Nucleoporin-62 C-terminal-like prot...
NUP62CL
136Annotation 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_05056954F → L. Corresponds to variant dbSNP:rs16987290Ensembl.1
Natural variantiVAR_028920177I → T2 PublicationsCorresponds to variant dbSNP:rs1298577Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02136765 – 72SVVATPVM → RFVFYMEK in isoform 2. 1 Publication8
Alternative sequenceiVSP_02136873 – 184Missing in isoform 2. 1 PublicationAdd BLAST112

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
AK000137 mRNA Translation: BAA90968.1
AL390039 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02718.1
CH471120 Genomic DNA Translation: EAX02720.1
BC016327 mRNA Translation: AAH16327.1
BC017799 mRNA Translation: AAH17799.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14527.1 [Q9H1M0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_060151.2, NM_017681.2 [Q9H1M0-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.163629

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372466; ENSP00000361544; ENSG00000198088 [Q9H1M0-1]
ENST00000484614; ENSP00000433269; ENSG00000198088 [Q9H1M0-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54830

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54830

UCSC genome browser

More...
UCSCi
uc004ena.4 human [Q9H1M0-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AK000137 mRNA Translation: BAA90968.1
AL390039 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02718.1
CH471120 Genomic DNA Translation: EAX02720.1
BC016327 mRNA Translation: AAH16327.1
BC017799 mRNA Translation: AAH17799.1
CCDSiCCDS14527.1 [Q9H1M0-1]
RefSeqiNP_060151.2, NM_017681.2 [Q9H1M0-1]
UniGeneiHs.163629

3D structure databases

ProteinModelPortaliQ9H1M0
SMRiQ9H1M0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120184, 30 interactors
IntActiQ9H1M0, 5 interactors
STRINGi9606.ENSP00000361544

PTM databases

PhosphoSitePlusiQ9H1M0

Polymorphism and mutation databases

BioMutaiNUP62CL
DMDMi317373409

Proteomic databases

PaxDbiQ9H1M0
PRIDEiQ9H1M0
ProteomicsDBi80427
80428 [Q9H1M0-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
54830
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372466; ENSP00000361544; ENSG00000198088 [Q9H1M0-1]
ENST00000484614; ENSP00000433269; ENSG00000198088 [Q9H1M0-2]
GeneIDi54830
KEGGihsa:54830
UCSCiuc004ena.4 human [Q9H1M0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54830
EuPathDBiHostDB:ENSG00000198088.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NUP62CL
HGNCiHGNC:25960 NUP62CL
HPAiHPA001884
neXtProtiNX_Q9H1M0
OpenTargetsiENSG00000198088
PharmGKBiPA145148360

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2196 Eukaryota
ENOG410XT5X LUCA
GeneTreeiENSGT00940000162863
HOGENOMiHOG000171766
HOVERGENiHBG082003
InParanoidiQ9H1M0
PhylomeDBiQ9H1M0

Miscellaneous databases

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

More...
GenomeRNAii
54830

Protein Ontology

More...
PROi
PR:Q9H1M0

Gene expression databases

BgeeiENSG00000198088 Expressed in 126 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9H1M0 baseline and differential
GenevisibleiQ9H1M0 HS

Family and domain databases

InterProiView protein in InterPro
IPR026010 NSP1/NUP62
IPR007758 Nucleoporin_NSP1_C
PANTHERiPTHR12084 PTHR12084, 1 hit
PfamiView protein in Pfam
PF05064 Nsp1_C, 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 nameiN62CL_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: Q9H1M0
Secondary accession number(s): D3DUX4, Q8WVL6, Q9NXP2
<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: January 11, 2011
Last modified: February 13, 2019
This is version 116 of the entry and version 3 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 X
    Human chromosome X: 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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