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Entry version 208 (17 Jun 2020)
Sequence version 3 (11 Jan 2011)
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Protein

DNA-binding protein SMUBP-2

Gene

IGHMBP2

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

5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi214 – 221ATPBy similarity8
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri894 – 940AN1-typePROSITE-ProRule annotationAdd BLAST47

<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 functionActivator, DNA-binding, Helicase, Hydrolase, Ribonucleoprotein, RNA-binding, tRNA-binding
Biological processTranscription, Transcription regulation
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.6.4.12 2681

<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%5Fand%5Ftaxonomy%5Fsection">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:
DNA-binding protein SMUBP-2 (EC:3.6.4.12, EC:3.6.4.13)
Alternative name(s):
ATP-dependent helicase IGHMBP2
Glial factor 1
Short name:
GF-1
Immunoglobulin mu-binding protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:IGHMBP2
Synonyms:SMBP2, SMUBP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000132740.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5542 IGHMBP2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600502 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P38935

<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

Keywords - Cellular componenti

Cell projection, Cytoplasm, 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

Neuronopathy, distal hereditary motor, 6 (HMN6)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
Related information in OMIM
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_05849717L → P in HMN6. 1 Publication1
Natural variantiVAR_022321192L → P in HMN6. 1 Publication1
Natural variantiVAR_058498196Q → R in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_022322213H → R in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852666EnsemblClinVar.1
Natural variantiVAR_058499216P → L in HMN6. 1 Publication1
Natural variantiVAR_022323221T → A in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_022324241C → R in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_058500251L → P in HMN6. 1 Publication1
Natural variantiVAR_022325334E → K in HMN6. 1 Publication1
Natural variantiVAR_022326361L → P in HMN6. 2 PublicationsCorresponds to variant dbSNP:rs201060167EnsemblClinVar.1
Natural variantiVAR_022327364L → P in HMN6. 1 Publication1
Natural variantiVAR_072695369F → L in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852670EnsemblClinVar.1
Natural variantiVAR_022328382E → K in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 PublicationsCorresponds to variant dbSNP:rs776730737Ensembl.1
Natural variantiVAR_058501386W → R in HMN6. 1 PublicationCorresponds to variant dbSNP:rs759641927EnsemblClinVar.1
Natural variantiVAR_022329426L → P in HMN6. 1 Publication1
Natural variantiVAR_058502445H → P in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 PublicationsCorresponds to variant dbSNP:rs571142182Ensembl.1
Natural variantiVAR_058503472L → P in HMN6. 1 Publication1
Natural variantiVAR_058504493T → I in HMN6; does not affect activity; reduces protein steady-state levels. 2 PublicationsCorresponds to variant dbSNP:rs780594709EnsemblClinVar.1
Natural variantiVAR_022330514E → K in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852665EnsemblClinVar.1
Natural variantiVAR_022331565D → N in HMN6; does not affect ATPase activity; loss of helicase activity on RNA duplices. 3 PublicationsCorresponds to variant dbSNP:rs770111639EnsemblClinVar.1
Natural variantiVAR_022332572Missing in HMN6. 1 Publication1
Natural variantiVAR_022333577L → P in HMN6. 2 PublicationsCorresponds to variant dbSNP:rs1483165002EnsemblClinVar.1
Natural variantiVAR_022334580V → I in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852667EnsemblClinVar.1
Natural variantiVAR_058505581R → S in HMN6. 1 Publication1
Natural variantiVAR_022335583N → I in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_022336586G → C in HMN6. 1 Publication1
Natural variantiVAR_058506603R → C in HMN6. 1 PublicationCorresponds to variant dbSNP:rs1465803265Ensembl.1
Natural variantiVAR_022337603R → H in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 PublicationsCorresponds to variant dbSNP:rs151079750EnsemblClinVar.1
Natural variantiVAR_022338637R → C in HMN6. 2 PublicationsCorresponds to variant dbSNP:rs201563456Ensembl.1
Natural variantiVAR_022340974D → E in HMN6. 1 PublicationCorresponds to variant dbSNP:rs147674615EnsemblClinVar.1
Charcot-Marie-Tooth disease 2S (CMT2S)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072694202F → V in CMT2S. 1 PublicationCorresponds to variant dbSNP:rs724159958EnsemblClinVar.1
Natural variantiVAR_072696373V → G in CMT2S. 1 PublicationCorresponds to variant dbSNP:rs724159959EnsemblClinVar.1
Natural variantiVAR_072697528A → T in CMT2S. 1 PublicationCorresponds to variant dbSNP:rs724159960EnsemblClinVar.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
3508

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
IGHMBP2

MalaCards human disease database

More...
MalaCardsi
IGHMBP2
MIMi604320 phenotype
616155 phenotype

Open Targets

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OpenTargetsi
ENSG00000132740

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

More...
Orphaneti
443073 Charcot-Marie-Tooth disease type 2S
98920 Spinal muscular atrophy with respiratory distress type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29731

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P38935 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IGHMBP2

Domain mapping of disease mutations (DMDM)

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DMDMi
317373494

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000807012 – 993DNA-binding protein SMUBP-2Add BLAST992

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei2N-acetylalanineCombined sources1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P38935

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P38935

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P38935

MaxQB - The MaxQuant DataBase

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MaxQBi
P38935

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

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PaxDbi
P38935

PeptideAtlas

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PeptideAtlasi
P38935

PRoteomics IDEntifications database

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PRIDEi
P38935

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
55306

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P38935

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

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PhosphoSitePlusi
P38935

<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

Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000132740 Expressed in mucosa of stomach and 149 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P38935 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P38935 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000132740 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer.

Interacts with RUVBL1, RUVBL2, GTF3C1 and ABT1. Is part of large cytosolic ribonucleoprotein complexes (Probable). Associates with the ribosomes.

Curated2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
109728, 19 interactors

Protein interaction database and analysis system

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IntActi
P38935, 17 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000255078

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P38935 protein

<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

1993
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P38935

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P38935

<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%5Fand%5Fdomains%5Fsection">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>Domaini723 – 786R3HPROSITE-ProRule annotationAdd BLAST64

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>Regioni638 – 785SS DNA-bindingBy similarityAdd BLAST148

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>Motifi864 – 868Nuclear localization signalSequence analysis5

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 biasi251 – 426Leu-richAdd BLAST176
Compositional biasi795 – 859Gln/Pro-richAdd BLAST65
Compositional biasi864 – 870Poly-Lys7

<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 DNA2/NAM7 helicase family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri894 – 940AN1-typePROSITE-ProRule annotationAdd BLAST47

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1803 Eukaryota
COG1112 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00930000151035

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_001666_5_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P38935

KEGG Orthology (KO)

More...
KOi
K19036

Identification of Orthologs from Complete Genome Data

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OMAi
RERRCVS

Database of Orthologous Groups

More...
OrthoDBi
633768at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P38935

TreeFam database of animal gene trees

More...
TreeFami
TF105388

Family and domain databases

Conserved Domains Database

More...
CDDi
cd02641 R3H_Smubp-2_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1370.50, 1 hit
4.10.1110.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR035896 AN1-like_Znf
IPR041679 DNA2/NAM7-like_AAA
IPR041677 DNA2/NAM7_AAA_11
IPR014001 Helicase_ATP-bd
IPR027417 P-loop_NTPase
IPR001374 R3H_dom
IPR036867 R3H_dom_sf
IPR034072 R3H_Smubp-2
IPR004483 SMUBP-2/Hcs1-like
IPR000058 Znf_AN1

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13086 AAA_11, 1 hit
PF13087 AAA_12, 1 hit
PF01424 R3H, 1 hit
PF01428 zf-AN1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 1 hit
SM00487 DEXDc, 1 hit
SM00393 R3H, 1 hit
SM00154 ZnF_AN1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF118310 SSF118310, 1 hit
SSF52540 SSF52540, 1 hit
SSF82708 SSF82708, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00376 TIGR00376, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51061 R3H, 1 hit
PS51039 ZF_AN1, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

P38935-1 [UniParc]FASTAAdd to basket
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MASAAVESFV TKQLDLLELE RDAEVEERRS WQENISLKEL QSRGVCLLKL
60 70 80 90 100
QVSSQRTGLY GRLLVTFEPR RYGSAAALPS NSFTSGDIVG LYDAANEGSQ
110 120 130 140 150
LATGILTRVT QKSVTVAFDE SHDFQLSLDR ENSYRLLKLA NDVTYRRLKK
160 170 180 190 200
ALIALKKYHS GPASSLIEVL FGRSAPSPAS EIHPLTFFNT CLDTSQKEAV
210 220 230 240 250
LFALSQKELA IIHGPPGTGK TTTVVEIILQ AVKQGLKVLC CAPSNIAVDN
260 270 280 290 300
LVERLALCKQ RILRLGHPAR LLESIQQHSL DAVLARSDSA QIVADIRKDI
310 320 330 340 350
DQVFVKNKKT QDKREKSNFR NEIKLLRKEL KEREEAAMLE SLTSANVVLA
360 370 380 390 400
TNTGASADGP LKLLPESYFD VVVIDECAQA LEASCWIPLL KARKCILAGD
410 420 430 440 450
HKQLPPTTVS HKAALAGLSL SLMERLAEEY GARVVRTLTV QYRMHQAIMR
460 470 480 490 500
WASDTMYLGQ LTAHSSVARH LLRDLPGVAA TEETGVPLLL VDTAGCGLFE
510 520 530 540 550
LEEEDEQSKG NPGEVRLVSL HIQALVDAGV PARDIAVVSP YNLQVDLLRQ
560 570 580 590 600
SLVHRHPELE IKSVDGFQGR EKEAVILSFV RSNRKGEVGF LAEDRRINVA
610 620 630 640 650
VTRARRHVAV ICDSRTVNNH AFLKTLVEYF TQHGEVRTAF EYLDDIVPEN
660 670 680 690 700
YSHENSQGSS HAATKPQGPA TSTRTGSQRQ EGGQEAAAPA RQGRKKPAGK
710 720 730 740 750
SLASEAPSQP SLNGGSPEGV ESQDGVDHFR AMIVEFMASK KMQLEFPPSL
760 770 780 790 800
NSHDRLRVHQ IAEEHGLRHD SSGEGKRRFI TVSKRAPRPR AALGPPAGTG
810 820 830 840 850
GPAPLQPVPP TPAQTEQPPR EQRGPDQPDL RTLHLERLQR VRSAQGQPAS
860 870 880 890 900
KEQQASGQQK LPEKKKKKAK GHPATDLPTE EDFEALVSAA VKADNTCGFA
910 920 930 940 950
KCTAGVTTLG QFCQLCSRRY CLSHHLPEIH GCGERARAHA RQRISREGVL
960 970 980 990
YAGSGTKNGS LDPAKRAQLQ RRLDKKLSEL SNQRTSRRKE RGT
Length:993
Mass (Da):109,149
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:iDE785579EE60E26F
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GX64F5GX64_HUMAN
DNA-binding protein SMUBP-2
IGHMBP2
192Annotation 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>
H3BRR1H3BRR1_HUMAN
DNA-binding protein SMUBP-2
IGHMBP2
91Annotation 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>
F5H5K3F5H5K3_HUMAN
DNA-binding protein SMUBP-2
IGHMBP2
29Annotation 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>

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 conflicti292I → N in AAA53082 (PubMed:8349627).Curated1
Sequence conflicti461L → V in AAA53082 (PubMed:8349627).Curated1
Sequence conflicti491 – 494VDTA → GGRV in AAA58611 (PubMed:1714899).Curated4
Sequence conflicti863E → K in AAA58611 (PubMed:1714899).Curated1
Sequence conflicti866K → T in AAA58611 (PubMed:1714899).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05849717L → P in HMN6. 1 Publication1
Natural variantiVAR_05522575A → T. Corresponds to variant dbSNP:rs2228206EnsemblClinVar.1
Natural variantiVAR_022321192L → P in HMN6. 1 Publication1
Natural variantiVAR_058498196Q → R in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_024242201L → S1 PublicationCorresponds to variant dbSNP:rs560096EnsemblClinVar.1
Natural variantiVAR_072694202F → V in CMT2S. 1 PublicationCorresponds to variant dbSNP:rs724159958EnsemblClinVar.1
Natural variantiVAR_022322213H → R in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852666EnsemblClinVar.1
Natural variantiVAR_058499216P → L in HMN6. 1 Publication1
Natural variantiVAR_022323221T → A in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_022324241C → R in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_058500251L → P in HMN6. 1 Publication1
Natural variantiVAR_024243275I → V1 PublicationCorresponds to variant dbSNP:rs10896380EnsemblClinVar.1
Natural variantiVAR_022325334E → K in HMN6. 1 Publication1
Natural variantiVAR_022326361L → P in HMN6. 2 PublicationsCorresponds to variant dbSNP:rs201060167EnsemblClinVar.1
Natural variantiVAR_022327364L → P in HMN6. 1 Publication1
Natural variantiVAR_072695369F → L in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852670EnsemblClinVar.1
Natural variantiVAR_072696373V → G in CMT2S. 1 PublicationCorresponds to variant dbSNP:rs724159959EnsemblClinVar.1
Natural variantiVAR_022328382E → K in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 PublicationsCorresponds to variant dbSNP:rs776730737Ensembl.1
Natural variantiVAR_058501386W → R in HMN6. 1 PublicationCorresponds to variant dbSNP:rs759641927EnsemblClinVar.1
Natural variantiVAR_022329426L → P in HMN6. 1 Publication1
Natural variantiVAR_058502445H → P in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 PublicationsCorresponds to variant dbSNP:rs571142182Ensembl.1
Natural variantiVAR_058503472L → P in HMN6. 1 Publication1
Natural variantiVAR_058504493T → I in HMN6; does not affect activity; reduces protein steady-state levels. 2 PublicationsCorresponds to variant dbSNP:rs780594709EnsemblClinVar.1
Natural variantiVAR_022330514E → K in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852665EnsemblClinVar.1
Natural variantiVAR_072697528A → T in CMT2S. 1 PublicationCorresponds to variant dbSNP:rs724159960EnsemblClinVar.1
Natural variantiVAR_055226557P → A. Corresponds to variant dbSNP:rs7122089EnsemblClinVar.1
Natural variantiVAR_022331565D → N in HMN6; does not affect ATPase activity; loss of helicase activity on RNA duplices. 3 PublicationsCorresponds to variant dbSNP:rs770111639EnsemblClinVar.1
Natural variantiVAR_022332572Missing in HMN6. 1 Publication1
Natural variantiVAR_022333577L → P in HMN6. 2 PublicationsCorresponds to variant dbSNP:rs1483165002EnsemblClinVar.1
Natural variantiVAR_022334580V → I in HMN6. 1 PublicationCorresponds to variant dbSNP:rs137852667EnsemblClinVar.1
Natural variantiVAR_058505581R → S in HMN6. 1 Publication1
Natural variantiVAR_022335583N → I in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 Publications1
Natural variantiVAR_022336586G → C in HMN6. 1 Publication1
Natural variantiVAR_058506603R → C in HMN6. 1 PublicationCorresponds to variant dbSNP:rs1465803265Ensembl.1
Natural variantiVAR_022337603R → H in HMN6; severe reduction of ATPase activity and loss of helicase activity on RNA duplices. 2 PublicationsCorresponds to variant dbSNP:rs151079750EnsemblClinVar.1
Natural variantiVAR_022338637R → C in HMN6. 2 PublicationsCorresponds to variant dbSNP:rs201563456Ensembl.1
Natural variantiVAR_020147671T → A. Corresponds to variant dbSNP:rs622082EnsemblClinVar.1
Natural variantiVAR_021899694R → W. Corresponds to variant dbSNP:rs2236654EnsemblClinVar.1
Natural variantiVAR_022339879T → K Common polymorphism. 1 PublicationCorresponds to variant dbSNP:rs17612126EnsemblClinVar.1
Natural variantiVAR_021900928E → K. Corresponds to variant dbSNP:rs2275996EnsemblClinVar.1
Natural variantiVAR_022340974D → E in HMN6. 1 PublicationCorresponds to variant dbSNP:rs147674615EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L14754 mRNA Translation: AAA53082.1
L24544 Genomic DNA Translation: AAA70430.1
AP000808 Genomic DNA No translation available.
BC025299 mRNA Translation: AAH25299.1
M64979 mRNA Translation: AAA58611.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8187.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A47500

NCBI Reference Sequences

More...
RefSeqi
NP_002171.2, NM_002180.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000255078; ENSP00000255078; ENSG00000132740

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3508

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3508

UCSC genome browser

More...
UCSCi
uc001ook.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L14754 mRNA Translation: AAA53082.1
L24544 Genomic DNA Translation: AAA70430.1
AP000808 Genomic DNA No translation available.
BC025299 mRNA Translation: AAH25299.1
M64979 mRNA Translation: AAA58611.1
CCDSiCCDS8187.1
PIRiA47500
RefSeqiNP_002171.2, NM_002180.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1MSZNMR-A711-786[»]
2LRRNMR-A711-786[»]
4B3FX-ray2.50X3-648[»]
4B3GX-ray2.85A/B3-648[»]
SMRiP38935
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109728, 19 interactors
IntActiP38935, 17 interactors
STRINGi9606.ENSP00000255078

PTM databases

iPTMnetiP38935
PhosphoSitePlusiP38935

Polymorphism and mutation databases

BioMutaiIGHMBP2
DMDMi317373494

Proteomic databases

EPDiP38935
jPOSTiP38935
MassIVEiP38935
MaxQBiP38935
PaxDbiP38935
PeptideAtlasiP38935
PRIDEiP38935
ProteomicsDBi55306

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
54271 83 antibodies

Genome annotation databases

EnsembliENST00000255078; ENSP00000255078; ENSG00000132740
GeneIDi3508
KEGGihsa:3508
UCSCiuc001ook.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3508
DisGeNETi3508
EuPathDBiHostDB:ENSG00000132740.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IGHMBP2
GeneReviewsiIGHMBP2
HGNCiHGNC:5542 IGHMBP2
HPAiENSG00000132740 Low tissue specificity
MalaCardsiIGHMBP2
MIMi600502 gene
604320 phenotype
616155 phenotype
neXtProtiNX_P38935
OpenTargetsiENSG00000132740
Orphaneti443073 Charcot-Marie-Tooth disease type 2S
98920 Spinal muscular atrophy with respiratory distress type 1
PharmGKBiPA29731

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1803 Eukaryota
COG1112 LUCA
GeneTreeiENSGT00930000151035
HOGENOMiCLU_001666_5_0_1
InParanoidiP38935
KOiK19036
OMAiRERRCVS
OrthoDBi633768at2759
PhylomeDBiP38935
TreeFamiTF105388

Enzyme and pathway databases

BRENDAi3.6.4.12 2681

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
3508 7 hits in 791 CRISPR screens

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

More...
ChiTaRSi
IGHMBP2 human
EvolutionaryTraceiP38935

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
IGHMBP2

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

More...
GenomeRNAii
3508
PharosiP38935 Tbio

Protein Ontology

More...
PROi
PR:P38935
RNActiP38935 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132740 Expressed in mucosa of stomach and 149 other tissues
ExpressionAtlasiP38935 baseline and differential
GenevisibleiP38935 HS

Family and domain databases

CDDicd02641 R3H_Smubp-2_like, 1 hit
Gene3Di3.30.1370.50, 1 hit
4.10.1110.10, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR035896 AN1-like_Znf
IPR041679 DNA2/NAM7-like_AAA
IPR041677 DNA2/NAM7_AAA_11
IPR014001 Helicase_ATP-bd
IPR027417 P-loop_NTPase
IPR001374 R3H_dom
IPR036867 R3H_dom_sf
IPR034072 R3H_Smubp-2
IPR004483 SMUBP-2/Hcs1-like
IPR000058 Znf_AN1
PfamiView protein in Pfam
PF13086 AAA_11, 1 hit
PF13087 AAA_12, 1 hit
PF01424 R3H, 1 hit
PF01428 zf-AN1, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SM00487 DEXDc, 1 hit
SM00393 R3H, 1 hit
SM00154 ZnF_AN1, 1 hit
SUPFAMiSSF118310 SSF118310, 1 hit
SSF52540 SSF52540, 1 hit
SSF82708 SSF82708, 1 hit
TIGRFAMsiTIGR00376 TIGR00376, 1 hit
PROSITEiView protein in PROSITE
PS51061 R3H, 1 hit
PS51039 ZF_AN1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSMBP2_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: P38935
Secondary accession number(s): A0PJD2, Q00443, Q14177
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: January 11, 2011
Last modified: June 17, 2020
This is version 208 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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