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Protein

Poly(U)-binding-splicing factor PUF60

Gene

PUF60

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

Annotation score:5 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

DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA.6 Publications

Miscellaneous

Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells.

<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

Molecular functionDNA-binding, Repressor, Ribonucleoprotein, RNA-binding
Biological processApoptosis, mRNA processing, mRNA splicing, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-72163 mRNA Splicing - Major Pathway

<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:
Poly(U)-binding-splicing factor PUF60
Alternative name(s):
60 kDa poly(U)-binding-splicing factor
FUSE-binding protein-interacting repressor
Short name:
FBP-interacting repressor
Ro-binding protein 1
Short name:
RoBP1
Siah-binding protein 1
Short name:
Siah-BP1
<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:PUF60
Synonyms:FIR, ROBPI, SIAHBP1
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000179950.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17042 PUF60

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604819 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UHX1

<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

Keywords - Cellular componenti

Nucleus

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Verheij syndrome (VRJS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects.
See also OMIM:615583
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_070939169H → Y in VRJS; loss of function mutation; results in altered dosage of different PUF60 protein forms and abnormal splicing profile of several target genes. 1 PublicationCorresponds to variant dbSNP:rs398123001EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
22827

MalaCards human disease database

More...
MalaCardsi
PUF60
MIMi615583 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000179950

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
508488 8q24.3 deletion syndrome
508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162400364

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74761960

<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_00002995191 – 559Poly(U)-binding-splicing factor PUF60Add BLAST559

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki43Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei60PhosphothreonineCombined sources1
Cross-linki80Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei112PhosphoserineCombined sources1
Modified residuei244PhosphoserineBy similarity1
Modified residuei251N6-acetyllysineCombined sources1
Modified residuei314PhosphothreonineCombined sources1
Cross-linki419Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei454N6-acetyllysineCombined sources1
Cross-linki458Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 5 (identifier: Q9UHX1-5)
Cross-linki14Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 6 (identifier: Q9UHX1-6)
Cross-linki14Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UHX1

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

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PaxDbi
Q9UHX1

PeptideAtlas

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PeptideAtlasi
Q9UHX1

PRoteomics IDEntifications database

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PRIDEi
Q9UHX1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84428
84429 [Q9UHX1-2]
84430 [Q9UHX1-3]
84431 [Q9UHX1-4]
84432 [Q9UHX1-5]
84433 [Q9UHX1-6]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q9UHX1-3 [Q9UHX1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UHX1

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

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PhosphoSitePlusi
Q9UHX1

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q9UHX1

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000179950 Expressed in 232 organ(s), highest expression level in tibial nerve

CleanEx database of gene expression profiles

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CleanExi
HS_PUF60

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UHX1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UHX1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045733
HPA052096
HPA059714

<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. Associates with the spliceosome. Found in a complex with TROVE2 and Y5 RNA. Found in a complex with FUBP1 and far upstream element (FUSE) DNA segment. Interacts directly with ERCC3. Interacts with CDK7, GTF2H1 and SFRS11. Does not interact with ERCC3 in xeroderma pigmentosum complementation group B (XPB) cells.5 Publications

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116502, 208 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UHX1

Database of interacting proteins

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DIPi
DIP-34636N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9UHX1

Protein interaction database and analysis system

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IntActi
Q9UHX1, 63 interactors

Molecular INTeraction database

More...
MINTi
Q9UHX1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000434359

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

Secondary structure

1559
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UHX1

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

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SMRi
Q9UHX1

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9UHX1

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini129 – 207RRM 1PROSITE-ProRule annotationAdd BLAST79
Domaini226 – 304RRM 2PROSITE-ProRule annotationAdd BLAST79
Domaini462 – 549RRM 3; atypicalPROSITE-ProRule annotationAdd BLAST88

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 516Inhibits homodimerizationAdd BLAST516
Regioni77 – 559Inhibits transcriptional repression, interaction with ERCC3 and apoptosis inductionAdd BLAST483

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 biasi321 – 343Ala-richAdd BLAST23

<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

The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization and/or protein-protein interactions.

<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 RRM half pint family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0124 Eukaryota
ENOG410XSGH LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155594

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG055622

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UHX1

KEGG Orthology (KO)

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KOi
K12838

Identification of Orthologs from Complete Genome Data

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OMAi
KCQLARA

Database of Orthologous Groups

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OrthoDBi
EOG091G08UV

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UHX1

TreeFam database of animal gene trees

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TreeFami
TF313987

Family and domain databases

Conserved Domains Database

More...
CDDi
cd12370 RRM1_PUF60, 1 hit
cd12371 RRM2_PUF60, 1 hit
cd12648 RRM3_UHM_PUF60, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.70.330, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR006532 PolyU-bd
IPR034209 PUF60_RRM1
IPR034211 PUF60_RRM2
IPR034212 PUF60_RRM3
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR003954 RRM_dom_euk

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00076 RRM_1, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00360 RRM, 3 hits
SM00361 RRM_1, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54928 SSF54928, 2 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01645 half-pint, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50102 RRM, 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>Sequences (6+)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 6 <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 6 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UHX1-1) [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
MATATIALQV NGQQGGGSEP AAAAAVVAAG DKWKPPQGTD SIKMENGQST
60 70 80 90 100
AAKLGLPPLT PEQQEALQKA KKYAMEQSIK SVLVKQTIAH QQQQLTNLQM
110 120 130 140 150
AAVTMGFGDP LSPLQSMAAQ RQRALAIMCR VYVGSIYYEL GEDTIRQAFA
160 170 180 190 200
PFGPIKSIDM SWDSVTMKHK GFAFVEYEVP EAAQLALEQM NSVMLGGRNI
210 220 230 240 250
KVGRPSNIGQ AQPIIDQLAE EARAFNRIYV ASVHQDLSDD DIKSVFEAFG
260 270 280 290 300
KIKSCTLARD PTTGKHKGYG FIEYEKAQSS QDAVSSMNLF DLGGQYLRVG
310 320 330 340 350
KAVTPPMPLL TPATPGGLPP AAAVAAAAAT AKITAQEAVA GAAVLGTLGT
360 370 380 390 400
PGLVSPALTL AQPLGTLPQA VMAAQAPGVI TGVTPARPPI PVTIPSVGVV
410 420 430 440 450
NPILASPPTL GLLEPKKEKE EEELFPESER PEMLSEQEHM SISGSSARHM
460 470 480 490 500
VMQKLLRKQE STVMVLRNMV DPKDIDDDLE GEVTEECGKF GAVNRVIIYQ
510 520 530 540 550
EKQGEEEDAE IIVKIFVEFS IASETHKAIQ ALNGRWFAGR KVVAEVYDQE

RFDNSDLSA
Length:559
Mass (Da):59,875
Last modified:May 1, 2000 - 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:i619F3C30D1C5951C
GO
Isoform 2 (identifier: Q9UHX1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-117: Missing.

Show »
Length:542
Mass (Da):58,171
Checksum:i2C67EBE529A0922E
GO
Isoform 3 (identifier: Q9UHX1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Show »
Length:516
Mass (Da):55,729
Checksum:iF52D8C619E874B55
GO
Isoform 4 (identifier: Q9UHX1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.
     101-117: Missing.

Show »
Length:499
Mass (Da):54,025
Checksum:i77881512A09C3EFD
GO
Isoform 5 (identifier: Q9UHX1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-37: Missing.

Show »
Length:530
Mass (Da):57,103
Checksum:i850251A390ECD30C
GO
Isoform 6 (identifier: Q9UHX1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-37: Missing.
     101-117: Missing.

Show »
Length:513
Mass (Da):55,399
Checksum:i2A5BA6848E391E3A
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PQ56E9PQ56_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
322Annotation 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>
H0YEM1H0YEM1_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
336Annotation 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>
E9PMU7E9PMU7_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
247Annotation 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>
E9PN18E9PN18_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
263Annotation 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>
E9PL19E9PL19_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
228Annotation 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>
H0YCP8H0YCP8_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
273Annotation 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>
A0A0J9YXJ8A0A0J9YXJ8_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
522Annotation 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>
A0A0J9YWM1A0A0J9YWM1_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
329Annotation 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>
A0A0J9YYL3A0A0J9YYL3_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
505Annotation 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>
A0A0J9YVP6A0A0J9YVP6_HUMAN
Poly(U)-binding-splicing factor PUF...
PUF60
534Annotation 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>
There are more potential isoformsShow all

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 conflicti3T → R in AAB41656 (Ref. 7) Curated1
Sequence conflicti123R → G in AAB41656 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070939169H → Y in VRJS; loss of function mutation; results in altered dosage of different PUF60 protein forms and abnormal splicing profile of several target genes. 1 PublicationCorresponds to variant dbSNP:rs398123001EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0277171 – 43Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0277189 – 37Missing in isoform 5 and isoform 6. CuratedAdd BLAST29
Alternative sequenceiVSP_027719101 – 117Missing in isoform 2, isoform 4 and isoform 6. 3 PublicationsAdd BLAST17

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
AF217197 mRNA Translation: AAF27522.2
AF114818 mRNA Translation: AAF23589.1
AK292373 mRNA Translation: BAF85062.1
CR457143 mRNA Translation: CAG33424.1
CH471162 Genomic DNA Translation: EAW82187.1
CH471162 Genomic DNA Translation: EAW82189.1
BC008875 mRNA Translation: AAH08875.1
BC009734 mRNA Translation: AAH09734.1
BC011265 mRNA Translation: AAH11265.1
BC011979 mRNA Translation: AAH11979.1
U51586 mRNA Translation: AAB41656.1
AF190744 mRNA Translation: AAF05605.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47933.1 [Q9UHX1-2]
CCDS47934.1 [Q9UHX1-1]
CCDS47935.1 [Q9UHX1-3]
CCDS59514.1 [Q9UHX1-4]
CCDS59515.1 [Q9UHX1-6]
CCDS59516.1 [Q9UHX1-5]

NCBI Reference Sequences

More...
RefSeqi
NP_001129505.1, NM_001136033.2 [Q9UHX1-3]
NP_001258025.1, NM_001271096.1
NP_001258026.1, NM_001271097.1 [Q9UHX1-6]
NP_001258027.1, NM_001271098.1
NP_001258028.1, NM_001271099.1 [Q9UHX1-5]
NP_001258029.1, NM_001271100.1 [Q9UHX1-4]
NP_055096.2, NM_014281.4 [Q9UHX1-2]
NP_510965.1, NM_078480.2 [Q9UHX1-1]
XP_016868728.1, XM_017013239.1 [Q9UHX1-3]
XP_016868729.1, XM_017013240.1 [Q9UHX1-4]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.521924

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000313352; ENSP00000322016; ENSG00000179950 [Q9UHX1-4]
ENST00000349157; ENSP00000322036; ENSG00000179950 [Q9UHX1-2]
ENST00000453551; ENSP00000402953; ENSG00000179950 [Q9UHX1-3]
ENST00000456095; ENSP00000395417; ENSG00000179950 [Q9UHX1-5]
ENST00000526683; ENSP00000434359; ENSG00000179950 [Q9UHX1-1]
ENST00000527197; ENSP00000431960; ENSG00000179950 [Q9UHX1-6]
ENST00000612237; ENSP00000478495; ENSG00000274081 [Q9UHX1-2]
ENST00000620341; ENSP00000484860; ENSG00000274081 [Q9UHX1-1]
ENST00000620953; ENSP00000478209; ENSG00000274081 [Q9UHX1-5]
ENST00000632444; ENSP00000487945; ENSG00000274081 [Q9UHX1-3]
ENST00000633206; ENSP00000487930; ENSG00000274081 [Q9UHX1-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
22827

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:22827

UCSC genome browser

More...
UCSCi
uc003yzq.5 human [Q9UHX1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF217197 mRNA Translation: AAF27522.2
AF114818 mRNA Translation: AAF23589.1
AK292373 mRNA Translation: BAF85062.1
CR457143 mRNA Translation: CAG33424.1
CH471162 Genomic DNA Translation: EAW82187.1
CH471162 Genomic DNA Translation: EAW82189.1
BC008875 mRNA Translation: AAH08875.1
BC009734 mRNA Translation: AAH09734.1
BC011265 mRNA Translation: AAH11265.1
BC011979 mRNA Translation: AAH11979.1
U51586 mRNA Translation: AAB41656.1
AF190744 mRNA Translation: AAF05605.1
CCDSiCCDS47933.1 [Q9UHX1-2]
CCDS47934.1 [Q9UHX1-1]
CCDS47935.1 [Q9UHX1-3]
CCDS59514.1 [Q9UHX1-4]
CCDS59515.1 [Q9UHX1-6]
CCDS59516.1 [Q9UHX1-5]
RefSeqiNP_001129505.1, NM_001136033.2 [Q9UHX1-3]
NP_001258025.1, NM_001271096.1
NP_001258026.1, NM_001271097.1 [Q9UHX1-6]
NP_001258027.1, NM_001271098.1
NP_001258028.1, NM_001271099.1 [Q9UHX1-5]
NP_001258029.1, NM_001271100.1 [Q9UHX1-4]
NP_055096.2, NM_014281.4 [Q9UHX1-2]
NP_510965.1, NM_078480.2 [Q9UHX1-1]
XP_016868728.1, XM_017013239.1 [Q9UHX1-3]
XP_016868729.1, XM_017013240.1 [Q9UHX1-4]
UniGeneiHs.521924

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DNYNMR-A454-559[»]
2KXFNMR-A119-314[»]
2KXHNMR-A119-314[»]
2QFJX-ray2.10A/B118-316[»]
3DXBX-ray2.20A/B/C/D/E/F/G/H460-559[»]
3UE2X-ray1.23A443-559[»]
3US5X-ray1.38A443-559[»]
3UWTX-ray2.50A118-316[»]
5KVYX-ray1.95A/B118-316[»]
5KW1X-ray2.10A/B118-316[»]
5KW6X-ray1.91A/B118-316[»]
5KWQX-ray2.80A/B118-316[»]
ProteinModelPortaliQ9UHX1
SMRiQ9UHX1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116502, 208 interactors
CORUMiQ9UHX1
DIPiDIP-34636N
ELMiQ9UHX1
IntActiQ9UHX1, 63 interactors
MINTiQ9UHX1
STRINGi9606.ENSP00000434359

PTM databases

iPTMnetiQ9UHX1
PhosphoSitePlusiQ9UHX1
SwissPalmiQ9UHX1

Polymorphism and mutation databases

DMDMi74761960

Proteomic databases

EPDiQ9UHX1
PaxDbiQ9UHX1
PeptideAtlasiQ9UHX1
PRIDEiQ9UHX1
ProteomicsDBi84428
84429 [Q9UHX1-2]
84430 [Q9UHX1-3]
84431 [Q9UHX1-4]
84432 [Q9UHX1-5]
84433 [Q9UHX1-6]
TopDownProteomicsiQ9UHX1-3 [Q9UHX1-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313352; ENSP00000322016; ENSG00000179950 [Q9UHX1-4]
ENST00000349157; ENSP00000322036; ENSG00000179950 [Q9UHX1-2]
ENST00000453551; ENSP00000402953; ENSG00000179950 [Q9UHX1-3]
ENST00000456095; ENSP00000395417; ENSG00000179950 [Q9UHX1-5]
ENST00000526683; ENSP00000434359; ENSG00000179950 [Q9UHX1-1]
ENST00000527197; ENSP00000431960; ENSG00000179950 [Q9UHX1-6]
ENST00000612237; ENSP00000478495; ENSG00000274081 [Q9UHX1-2]
ENST00000620341; ENSP00000484860; ENSG00000274081 [Q9UHX1-1]
ENST00000620953; ENSP00000478209; ENSG00000274081 [Q9UHX1-5]
ENST00000632444; ENSP00000487945; ENSG00000274081 [Q9UHX1-3]
ENST00000633206; ENSP00000487930; ENSG00000274081 [Q9UHX1-4]
GeneIDi22827
KEGGihsa:22827
UCSCiuc003yzq.5 human [Q9UHX1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
22827
DisGeNETi22827
EuPathDBiHostDB:ENSG00000179950.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PUF60
HGNCiHGNC:17042 PUF60
HPAiHPA045733
HPA052096
HPA059714
MalaCardsiPUF60
MIMi604819 gene
615583 phenotype
neXtProtiNX_Q9UHX1
OpenTargetsiENSG00000179950
Orphaneti508488 8q24.3 deletion syndrome
508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
PharmGKBiPA162400364

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0124 Eukaryota
ENOG410XSGH LUCA
GeneTreeiENSGT00940000155594
HOVERGENiHBG055622
InParanoidiQ9UHX1
KOiK12838
OMAiKCQLARA
OrthoDBiEOG091G08UV
PhylomeDBiQ9UHX1
TreeFamiTF313987

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway

Miscellaneous databases

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

More...
ChiTaRSi
PUF60 human
EvolutionaryTraceiQ9UHX1

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PUF60

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

More...
GenomeRNAii
22827

Protein Ontology

More...
PROi
PR:Q9UHX1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000179950 Expressed in 232 organ(s), highest expression level in tibial nerve
CleanExiHS_PUF60
ExpressionAtlasiQ9UHX1 baseline and differential
GenevisibleiQ9UHX1 HS

Family and domain databases

CDDicd12370 RRM1_PUF60, 1 hit
cd12371 RRM2_PUF60, 1 hit
cd12648 RRM3_UHM_PUF60, 1 hit
Gene3Di3.30.70.330, 3 hits
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR006532 PolyU-bd
IPR034209 PUF60_RRM1
IPR034211 PUF60_RRM2
IPR034212 PUF60_RRM3
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR003954 RRM_dom_euk
PfamiView protein in Pfam
PF00076 RRM_1, 2 hits
SMARTiView protein in SMART
SM00360 RRM, 3 hits
SM00361 RRM_1, 2 hits
SUPFAMiSSF54928 SSF54928, 2 hits
TIGRFAMsiTIGR01645 half-pint, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 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 nameiPUF60_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: Q9UHX1
Secondary accession number(s): A8K8K8
, Q969E7, Q96D94, Q96H63, Q99628, Q9NZA0, Q9UJY7
<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: September 11, 2007
Last sequence update: May 1, 2000
Last modified: December 5, 2018
This is version 171 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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