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UniProtKB - Q9BYM8 (HOIL1_HUMAN)

Entry version 194 (17 Jun 2020)
Sequence version 2 (15 Jan 2008)
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Protein

RanBP-type and C3HC4-type zinc finger-containing protein 1

Gene

RBCK1

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

E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. Component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.9 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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi282Zinc 1PROSITE-ProRule annotation1
Metal bindingi285Zinc 1PROSITE-ProRule annotation1
Metal bindingi300Zinc 2PROSITE-ProRule annotation1
Metal bindingi302Zinc 2; via pros nitrogenPROSITE-ProRule annotation1
Metal bindingi305Zinc 1PROSITE-ProRule annotation1
Metal bindingi308Zinc 1PROSITE-ProRule annotation1
Metal bindingi323Zinc 2PROSITE-ProRule annotation1
Metal bindingi332Zinc 2PROSITE-ProRule annotation1
Metal bindingi371Zinc 3PROSITE-ProRule annotation1
Metal bindingi376Zinc 3PROSITE-ProRule annotation1
Metal bindingi391Zinc 3PROSITE-ProRule annotation1
Metal bindingi394Zinc 3PROSITE-ProRule annotation1
Metal bindingi399Zinc 4PROSITE-ProRule annotation1
Metal bindingi402Zinc 4PROSITE-ProRule annotation1
Metal bindingi406Zinc 4; via tele nitrogenPROSITE-ProRule annotation1
Metal bindingi411Zinc 4PROSITE-ProRule annotation1
Metal bindingi447Zinc 5PROSITE-ProRule annotation1
Metal bindingi450Zinc 5PROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei460PROSITE-ProRule annotation1
Metal bindingi465Zinc 5PROSITE-ProRule annotation1
Metal bindingi468Zinc 5PROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 fingeri193 – 222RanBP2-typePROSITE-ProRule annotationAdd BLAST30
Zinc fingeri282 – 332RING-type 1PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri351 – 411IBR-typePROSITE-ProRule annotationAdd BLAST61
Zinc fingeri447 – 476RING-type 2; atypicalPROSITE-ProRule annotationAdd BLAST30

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionTransferase
Biological processHost-virus interaction, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5357905 Regulation of TNFR1 signaling
R-HSA-5357956 TNFR1-induced NFkappaB signaling pathway
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9BYM8

<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:
RanBP-type and C3HC4-type zinc finger-containing protein 1 (EC:2.3.2.311 Publication)
Alternative name(s):
HBV-associated factor 4
Heme-oxidized IRP2 ubiquitin ligase 1
Short name:
HOIL-1
Hepatitis B virus X-associated protein 4
RING finger protein 54
RING-type E3 ubiquitin transferase HOIL-1Curated
Ubiquitin-conjugating enzyme 7-interacting protein 3
<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:RBCK1
Synonyms:C20orf18, RNF54, UBCE7IP3, XAP3, XAP4
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000125826.19

Human Gene Nomenclature Database

More...HGNCi		HGNC:15864 RBCK1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610924 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BYM8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<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

Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation.
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_07138518A → P in PGBM1. 1 Publication1
Natural variantiVAR_071386387N → S in PGBM1. 1 PublicationCorresponds to variant dbSNP:rs566912235EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi282C → S: Binds to IREB2 in iron-treated cells. Reversed iron-induced down-regulation of IREB2. No ubiquitination of heme-loaded IREB2; when associated with S-285. 1 Publication1
Mutagenesisi285C → S: Binds to IREB2 in iron-treated cells. Reversed iron-induced down-regulation of IREB2. No ubiquitination of heme-loaded IREB2; when associated with S-282. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		10616

MalaCards human disease database

More...MalaCardsi		RBCK1
MIMi615895 phenotype

Open Targets

More...OpenTargetsi		ENSG00000125826

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

More...Orphaneti		329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
397937 Polyglucosan body myopathy type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25723

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BYM8 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4296109

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RBCK1

Domain mapping of disease mutations (DMDM)

More...DMDMi		166214993

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000562951 – 510RanBP-type and C3HC4-type zinc finger-containing protein 1Add BLAST510

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 residuei1N-acetylmethionineCombined sources1
Modified residuei50PhosphoserineCombined sources1
Modified residuei330PhosphotyrosineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Auto-ubiquitinated. Auto-ubiquitination leads to degradation by the proteasome (By similarity).By similarity
Phosphorylated. In vitro, phosphorylation inhibits auto-ubiquitination activity (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BYM8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BYM8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BYM8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BYM8

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

More...PaxDbi		Q9BYM8

PeptideAtlas

More...PeptideAtlasi		Q9BYM8

PRoteomics IDEntifications database

More...PRIDEi		Q9BYM8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79667 [Q9BYM8-1]
79668 [Q9BYM8-3]
79669 [Q9BYM8-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BYM8

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9BYM8

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

More...PhosphoSitePlusi		Q9BYM8

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By viral transfection.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125826 Expressed in right hemisphere of cerebellum and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BYM8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BYM8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125826 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

Component of the LUBAC complex (linear ubiquitin chain assembly complex) which consists of SHARPIN, RBCK1 and RNF31. LUBAC has a MW of approximately 600 kDa suggesting a heteromultimeric assembly of its subunits.

Interacts with beta-I-type (PRKCB1) and zeta-type protein kinase C (PRKCZ) and with UBE2L3.

Interacts with PRKCH. Isoform 1 and isoform 2 interact with IREB2 only in iron-rich conditions. Associates with the TNF-R1 signaling complex (TNF-RSC) in a stimulation-dependent manner.

Interacts with EYA1, TAB2, TAB3, MAP3K7 TRAF6 and RIPK1.

Interacts with IRF3.

9 Publications

(Microbial infection) Interacts with hepatitis B virus/HBV protein HBx; this interaction is required to activate transcription of the viral genome.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115862, 121 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BYM8

Database of interacting proteins

More...DIPi		DIP-47737N

Protein interaction database and analysis system

More...IntActi		Q9BYM8, 89 interactors

Molecular INTeraction database

More...MINTi		Q9BYM8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000348632

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BYM8 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

1510
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

More...SMRi		Q9BYM8

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9BYM8

<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>Domaini55 – 119Ubiquitin-likePROSITE-ProRule annotationAdd BLAST65

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 – 270Interaction with TAB21 PublicationAdd BLAST270
Regioni1 – 220Interaction with IRF31 PublicationAdd BLAST220
Regioni69 – 131Interaction with RNF311 PublicationAdd BLAST63
Regioni278 – 506TRIAD supradomainPROSITE-ProRule annotationAdd BLAST229

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili233 – 261Sequence analysisAdd BLAST29

<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 RanBP2-type zinc finger, also called Npl4 zinc finger (NZF), mediates binding to 'Met-1'-linked polyubiquitins.By similarity
The UBL domain mediates association with RNF31 via interaction with its UBA domain.1 Publication

<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 RBR family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri193 – 222RanBP2-typePROSITE-ProRule annotationAdd BLAST30
Zinc fingeri282 – 332RING-type 1PROSITE-ProRule annotationAdd BLAST51
Zinc fingeri351 – 411IBR-typePROSITE-ProRule annotationAdd BLAST61
Zinc fingeri447 – 476RING-type 2; atypicalPROSITE-ProRule annotationAdd BLAST30

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1815 Eukaryota
ENOG410XP9Y LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161130

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014998_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BYM8

KEGG Orthology (KO)

More...KOi		K10630

Identification of Orthologs from Complete Genome Data

More...OMAi		MNCKDYQ

Database of Orthologous Groups

More...OrthoDBi		1086223at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BYM8

TreeFam database of animal gene trees

More...TreeFami		TF323486

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002867 IBR_dom
IPR026261 RBCK1/SHARPIN
IPR000626 Ubiquitin-like_dom
IPR029071 Ubiquitin-like_domsf
IPR027370 Znf-RING_LisH
IPR001876 Znf_RanBP2
IPR036443 Znf_RanBP2_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS

The PANTHER Classification System

More...PANTHERi		PTHR22770:SF35 PTHR22770:SF35, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01485 IBR, 1 hit
PF13445 zf-RING_UBOX, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00184 RING, 1 hit
SM00547 ZnF_RBZ, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54236 SSF54236, 1 hit
SSF90209 SSF90209, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51873 TRIAD, 1 hit
PS50053 UBIQUITIN_2, 1 hit
PS01358 ZF_RANBP2_1, 1 hit
PS50199 ZF_RANBP2_2, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 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>Sequences (3+)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.

This entry describes 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BYM8-1) [UniParc]FASTAAdd to basket
Also known as: HOIL-1L

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MDEKTKKAEE MALSLTRAVA GGDEQVAMKC AIWLAEQRVP LSVQLKPEVS 
        60         70         80         90        100
PTQDIRLWVS VEDAQMHTVT IWLTVRPDMT VASLKDMVFL DYGFPPVLQQ 
       110        120        130        140        150
WVIGQRLARD QETLHSHGVR QNGDSAYLYL LSARNTSLNP QELQRERQLR 
       160        170        180        190        200
MLEDLGFKDL TLQPRGPLEP GPPKPGVPQE PGRGQPDAVP EPPPVGWQCP 
       210        220        230        240        250
GCTFINKPTR PGCEMCCRAR PEAYQVPASY QPDEEERARL AGEEEALRQY 
       260        270        280        290        300
QQRKQQQQEG NYLQHVQLDQ RSLVLNTEPA ECPVCYSVLA PGEAVVLREC 
       310        320        330        340        350
LHTFCRECLQ GTIRNSQEAE VSCPFIDNTY SCSGKLLERE IKALLTPEDY 
       360        370        380        390        400
QRFLDLGISI AENRSAFSYH CKTPDCKGWC FFEDDVNEFT CPVCFHVNCL 
       410        420        430        440        450
LCKAIHEQMN CKEYQEDLAL RAQNDVAARQ TTEMLKVMLQ QGEAMRCPQC 
       460        470        480        490        500
QIVVQKKDGC DWIRCTVCHT EICWVTKGPR WGPGGPGDTS GGCRCRVNGI 
       510
PCHPSCQNCH
Length:510
Mass (Da):57,572
Last modified:January 15, 2008 - v2
<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:iC6EF957B1F152FF2
GO
Isoform 2 (identifier: Q9BYM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-55: MDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDI → MGTATPDGREDQE

Show »
Length:468
Mass (Da):52,936
Checksum:i5B4420D28508EE16
GO
Isoform 3 (identifier: Q9BYM8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-55: MDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKPEVSPTQDI → MGTATPDGREDQE
     253-272: RKQQQQEGNYLQHVQLDQRS → GVPAGHHPQQPGGGGLLPLH
     273-510: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:230
Mass (Da):25,654
Checksum:i8EDB1C28B96BF8D4
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3XAG9G3XAG9_HUMAN
HCG2019817, isoform CRA_d
RBCK1 hCG_2019817
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>
H0Y4S7H0Y4S7_HUMAN
RanBP-type and C3HC4-type zinc fing...
RBCK1
255Annotation 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>
B4DML5B4DML5_HUMAN
RanBP-type and C3HC4-type zinc fing...
RBCK1
272Annotation 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>
A6PVK0A6PVK0_HUMAN
HCG2019817, isoform CRA_b
RBCK1 hCG_2019817
340Annotation 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>
A6PVJ6A6PVJ6_HUMAN
RanBP-type and C3HC4-type zinc fing...
RBCK1
105Annotation 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>
A6PVJ7A6PVJ7_HUMAN
RanBP-type and C3HC4-type zinc fing...
RBCK1
116Annotation 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>
Q5JWR1Q5JWR1_HUMAN
RanBP-type and C3HC4-type zinc fing...
RBCK1
117Annotation 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>
A6PVJ5A6PVJ5_HUMAN
RanBP-type and C3HC4-type zinc fing...
RBCK1
63Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH15219 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti236E → D in BAC75409 (PubMed:12629548).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07138518A → P in PGBM1. 1 Publication1
Natural variantiVAR_071386387N → S in PGBM1. 1 PublicationCorresponds to variant dbSNP:rs566912235EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0057661 – 55MDEKT…PTQDI → MGTATPDGREDQE in isoform 2 and isoform 3. 3 PublicationsAdd BLAST55
Alternative sequenceiVSP_005767253 – 272RKQQQ…LDQRS → GVPAGHHPQQPGGGGLLPLH in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_005768273 – 510Missing in isoform 3. 1 PublicationAdd BLAST238

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
U67322 mRNA Translation: AAD00162.1
AB107766 mRNA Translation: BAC75409.1
AL121747 Genomic DNA No translation available.
BC000983 mRNA No translation available.
BC015219 mRNA Translation: AAH15219.2 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12998.1 [Q9BYM8-3]
CCDS13000.2 [Q9BYM8-1]

NCBI Reference Sequences

More...RefSeqi		NP_006453.1, NM_006462.5 [Q9BYM8-3]
NP_112506.2, NM_031229.3 [Q9BYM8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000353660; ENSP00000254960; ENSG00000125826 [Q9BYM8-3]
ENST00000356286; ENSP00000348632; ENSG00000125826 [Q9BYM8-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10616

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10616

UCSC genome browser

More...UCSCi		uc002wdp.5 human [Q9BYM8-1]

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
U67322 mRNA Translation: AAD00162.1
AB107766 mRNA Translation: BAC75409.1
AL121747 Genomic DNA No translation available.
BC000983 mRNA No translation available.
BC015219 mRNA Translation: AAH15219.2 Different initiation.
CCDSiCCDS12998.1 [Q9BYM8-3]
CCDS13000.2 [Q9BYM8-1]
RefSeqiNP_006453.1, NM_006462.5 [Q9BYM8-3]
NP_112506.2, NM_031229.3 [Q9BYM8-1]

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
2CRCNMR-A194-232[»]
2LGYNMR-A51-139[»]
4DBGX-ray2.71A37-137[»]
SMRiQ9BYM8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115862, 121 interactors
CORUMiQ9BYM8
DIPiDIP-47737N
IntActiQ9BYM8, 89 interactors
MINTiQ9BYM8
STRINGi9606.ENSP00000348632

Chemistry databases

ChEMBLiCHEMBL4296109

PTM databases

iPTMnetiQ9BYM8
MetOSiteiQ9BYM8
PhosphoSitePlusiQ9BYM8

Polymorphism and mutation databases

BioMutaiRBCK1
DMDMi166214993

Proteomic databases

EPDiQ9BYM8
jPOSTiQ9BYM8
MassIVEiQ9BYM8
MaxQBiQ9BYM8
PaxDbiQ9BYM8
PeptideAtlasiQ9BYM8
PRIDEiQ9BYM8
ProteomicsDBi79667 [Q9BYM8-1]
79668 [Q9BYM8-3]
79669 [Q9BYM8-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		6164 284 antibodies

The DNASU plasmid repository

More...DNASUi		10616

Genome annotation databases

EnsembliENST00000353660; ENSP00000254960; ENSG00000125826 [Q9BYM8-3]
ENST00000356286; ENSP00000348632; ENSG00000125826 [Q9BYM8-1]
GeneIDi10616
KEGGihsa:10616
UCSCiuc002wdp.5 human [Q9BYM8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10616
DisGeNETi10616
EuPathDBiHostDB:ENSG00000125826.19

GeneCards: human genes, protein and diseases

More...GeneCardsi		RBCK1
HGNCiHGNC:15864 RBCK1
HPAiENSG00000125826 Low tissue specificity
MalaCardsiRBCK1
MIMi610924 gene
615895 phenotype
neXtProtiNX_Q9BYM8
OpenTargetsiENSG00000125826
Orphaneti329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
397937 Polyglucosan body myopathy type 1
PharmGKBiPA25723

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1815 Eukaryota
ENOG410XP9Y LUCA
GeneTreeiENSGT00940000161130
HOGENOMiCLU_014998_1_0_1
InParanoidiQ9BYM8
KOiK10630
OMAiMNCKDYQ
OrthoDBi1086223at2759
PhylomeDBiQ9BYM8
TreeFamiTF323486

Enzyme and pathway databases

ReactomeiR-HSA-5357905 Regulation of TNFR1 signaling
R-HSA-5357956 TNFR1-induced NFkappaB signaling pathway
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiQ9BYM8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10616 5 hits in 786 CRISPR screens

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

More...ChiTaRSi		RBCK1 human
EvolutionaryTraceiQ9BYM8

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RBCK1

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

More...GenomeRNAii		10616
PharosiQ9BYM8 Tbio

Protein Ontology

More...PROi		PR:Q9BYM8
RNActiQ9BYM8 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125826 Expressed in right hemisphere of cerebellum and 221 other tissues
ExpressionAtlasiQ9BYM8 baseline and differential
GenevisibleiQ9BYM8 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR002867 IBR_dom
IPR026261 RBCK1/SHARPIN
IPR000626 Ubiquitin-like_dom
IPR029071 Ubiquitin-like_domsf
IPR027370 Znf-RING_LisH
IPR001876 Znf_RanBP2
IPR036443 Znf_RanBP2_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PANTHERiPTHR22770:SF35 PTHR22770:SF35, 1 hit
PfamiView protein in Pfam
PF01485 IBR, 1 hit
PF13445 zf-RING_UBOX, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
SM00547 ZnF_RBZ, 1 hit
SUPFAMiSSF54236 SSF54236, 1 hit
SSF90209 SSF90209, 1 hit
PROSITEiView protein in PROSITE
PS51873 TRIAD, 1 hit
PS50053 UBIQUITIN_2, 1 hit
PS01358 ZF_RANBP2_1, 1 hit
PS50199 ZF_RANBP2_2, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 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 nameiHOIL1_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: Q9BYM8
Secondary accession number(s): O95623
, Q86SL2, Q96BS3, Q9BYM9
<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: September 26, 2001
Last sequence update: January 15, 2008
Last modified: June 17, 2020
This is version 194 of the entry and version 2 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, 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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