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UniProtKB - P51449 (RORG_HUMAN)

Entry version 201 (02 Jun 2021)
Sequence version 2 (21 Jun 2004)
Previous versions | rss
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Protein

Nuclear receptor ROR-gamma

Gene

RORC

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

Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100).

Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively (PubMed:19965867, PubMed:22789990).

Recruits distinct combinations of cofactors to target gene regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates the circadian expression of clock genes such as CRY1, ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Involved in the regulation of the rhythmic expression of genes involved in glucose and lipid metabolism, including PLIN2 and AVPR1A (PubMed:19965867).

Negative regulator of adipocyte differentiation through the regulation of early phase genes expression, such as MMP3. Controls adipogenesis as well as adipocyte size and modulates insulin sensitivity in obesity. In liver, has specific and redundant functions with RORA as positive or negative modulator of expression of genes encoding phase I and Phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as SULT1E1. Also plays also a role in the regulation of hepatocyte glucose metabolism through the regulation of G6PC1 and PCK1 (PubMed:19965867).

Regulates the rhythmic expression of PROX1 and promotes its nuclear localization (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100).

Plays an indispensable role in the induction of IFN-gamma dependent anti-mycobacterial systemic immunity (PubMed:26160376).

By similarity5 Publications

Essential for thymopoiesis and the development of several secondary lymphoid tissues, including lymph nodes and Peyer's patches. Required for the generation of LTi (lymphoid tissue inducer) cells. Regulates thymocyte survival through DNA-binding on ROREs of target gene promoter regions and recruitment of coactivaros via the AF-2. Also plays a key role, downstream of IL6 and TGFB and synergistically with RORA, for lineage specification of uncommitted CD4+ T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. May also play a role in the pre-TCR activation cascade leading to the maturation of alpha/beta T-cells and may participate in the regulation of DNA accessibility in the TCR-J(alpha) locus.

1 Publication

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 and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi31 – 96Nuclear receptorPROSITE-ProRule annotationAdd BLAST66
<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 fingeri31 – 51NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri67 – 91NR C4-typePROSITE-ProRule annotationAdd BLAST25

<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 functionActivator, Developmental protein, DNA-binding, Receptor
Biological processBiological rhythms, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P51449

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-383280, Nuclear Receptor transcription pathway
R-HSA-6785807, Interleukin-4 and Interleukin-13 signaling
R-HSA-8949275, RUNX3 Regulates Immune Response and Cell Migration [P51449-2]

SIGNOR Signaling Network Open Resource

More...SIGNORi		P51449

<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:
Nuclear receptor ROR-gamma
Alternative name(s):
Nuclear receptor RZR-gamma
Nuclear receptor subfamily 1 group F member 3
RAR-related orphan receptor C
Retinoid-related orphan receptor-gamma
<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:RORC
Synonyms:NR1F3, RORG, RZRG
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10260, RORC

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602943, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51449

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000143365.16

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

Keywords - Cellular componenti

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

Immunodeficiency 42 (IMD42)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections.
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_07372538S → L in IMD42; does not affect nuclear localization; loss of transcription regulatory region sequence-specific DNA binding; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs774357869EnsemblClinVar.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>Mutagenesisi327A → F: Completely abolishes transcriptional activity. 1 Publication1
Mutagenesisi378F → Q: Completely abolishes transcriptional activity. 1 Publication1
Mutagenesisi397I → N: Nearly abolishes transcriptional activity. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		6097

MalaCards human disease database

More...MalaCardsi		RORC
MIMi616622, phenotype

Open Targets

More...OpenTargetsi		ENSG00000143365

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

More...Orphaneti		477857, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34632

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51449, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1741186

DrugCentral

More...DrugCentrali		P51449

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		600

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RORC

Domain mapping of disease mutations (DMDM)

More...DMDMi		49066040

<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_00000535171 – 518Nuclear receptor ROR-gammaAdd BLAST518

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51449

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51449

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

More...PaxDbi		P51449

PeptideAtlas

More...PeptideAtlasi		P51449

PRoteomics IDEntifications database

More...PRIDEi		P51449

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56305 [P51449-1]
56306 [P51449-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51449

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

More...PhosphoSitePlusi		P51449

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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

Isoform 1 is widely expressed in many tissues, including liver and adipose, and highly expressed in skeletal muscle. Isoform 2 is primarily expressed in immature thymocytes.

<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

Up-regulated in the state of obesity.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143365, Expressed in gastrocnemius and 124 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51449, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51449, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000143365, Tissue enhanced (lymphoid tissue, skeletal muscle)

<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

Interacts (via AF-2 motif) with the coactivator NCOA2 (via LXXLL motif) (PubMed:20211758).

Interacts with the corepressor NCOR1 (By similarity).

Interacts with CRY1 (PubMed:22170608).

Interacts (via AF-2 motif) with the coactivators NCOA1 and PPARGC1A (via LXXLL motif) (By similarity).

Interacts (via AF-2 motif) with PROX1 (By similarity).

Interacts with FOXP3 (PubMed:18368049).

Interacts with NR0B2 (By similarity).

By similarity3 Publications

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112024, 36 interactors

Database of interacting proteins

More...DIPi		DIP-60622N

Protein interaction database and analysis system

More...IntActi		P51449, 32 interactors

Molecular INTeraction database

More...MINTi		P51449

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000327025

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51449, 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

1518
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		P51449

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		P51449

<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>Domaini269 – 508NR LBDPROSITE-ProRule annotationAdd BLAST240

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 – 30ModulatingSequence analysisAdd BLAST30
Regioni105 – 183DisorderedSequence analysisAdd BLAST79
Regioni238 – 258DisorderedSequence analysisAdd BLAST21

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>Motifi501 – 506AF-26

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi119 – 135Polar residuesSequence analysisAdd BLAST17

<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 AF-2 (activation function-2) motif is required for recruiting coregulators containing LXXLL motifs such as NCOA1 and NCOA2.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the nuclear hormone receptor family. NR1 subfamily.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri31 – 51NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri67 – 91NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4216, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161521

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007368_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51449

Identification of Orthologs from Complete Genome Data

More...OMAi		QGPDSYC

Database of Orthologous Groups

More...OrthoDBi		583704at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51449

TreeFam database of animal gene trees

More...TreeFami		TF319910

Family and domain databases

Conserved Domains Database

More...CDDi		cd06968, NR_DBD_ROR, 1 hit

Database of protein disorder

More...DisProti		DP01647

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.565.10, 1 hit
3.30.50.10, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00305

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR035500, NHR-like_dom_sf
IPR044101, NR_DBD_ROR
IPR000536, Nucl_hrmn_rcpt_lig-bd
IPR001723, Nuclear_hrmn_rcpt
IPR003079, ROR_rcpt
IPR001628, Znf_hrmn_rcpt
IPR013088, Znf_NHR/GATA

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00104, Hormone_recep, 1 hit
PF00105, zf-C4, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01293, RORNUCRECPTR
PR00398, STRDHORMONER
PR00047, STROIDFINGER

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00430, HOLI, 1 hit
SM00399, ZnF_C4, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48508, SSF48508, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51843, NR_LBD, 1 hit
PS00031, NUCLEAR_REC_DBD_1, 1 hit
PS51030, NUCLEAR_REC_DBD_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 (2+)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 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51449-1) [UniParc]FASTAAdd to basket

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
MDRAPQRQHR ASRELLAAKK THTSQIEVIP CKICGDKSSG IHYGVITCEG 
        60         70         80         90        100
CKGFFRRSQR CNAAYSCTRQ QNCPIDRTSR NRCQHCRLQK CLALGMSRDA 
       110        120        130        140        150
VKFGRMSKKQ RDSLHAEVQK QLQQRQQQQQ EPVVKTPPAG AQGADTLTYT 
       160        170        180        190        200
LGLPDGQLPL GSSPDLPEAS ACPPGLLKAS GSGPSYSNNL AKAGLNGASC 
       210        220        230        240        250
HLEYSPERGK AEGRESFYST GSQLTPDRCG LRFEEHRHPG LGELGQGPDS 
       260        270        280        290        300
YGSPSFRSTP EAPYASLTEI EHLVQSVCKS YRETCQLRLE DLLRQRSNIF 
       310        320        330        340        350
SREEVTGYQR KSMWEMWERC AHHLTEAIQY VVEFAKRLSG FMELCQNDQI 
       360        370        380        390        400
VLLKAGAMEV VLVRMCRAYN ADNRTVFFEG KYGGMELFRA LGCSELISSI 
       410        420        430        440        450
FDFSHSLSAL HFSEDEIALY TALVLINAHR PGLQEKRKVE QLQYNLELAF 
       460        470        480        490        500
HHHLCKTHRQ SILAKLPPKG KLRSLCSQHV ERLQIFQHLH PIVVQAAFPP 
       510 
LYKELFSTET ESPVGLSK
Length:518
Mass (Da):58,195
Last modified:June 21, 2004 - 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:i7F423140BD7922BE
GO
Isoform 2 (identifier: P51449-2) [UniParc]FASTAAdd to basket
Also known as: RORgT

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: Missing.
     22-24: HTS → MRT

Show »
Length:497
Mass (Da):55,813
Checksum:i6D0048673483EA11
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A494C0S6A0A494C0S6_HUMAN
Nuclear receptor ROR-gamma
RORC
374Annotation score:

Annotation score:2 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>
A0A494C174A0A494C174_HUMAN
Nuclear receptor ROR-gamma
RORC
166Annotation 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>
A0A494C0H2A0A494C0H2_HUMAN
Nuclear receptor ROR-gamma
RORC
176Annotation 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>
A0A1W2PRM4A0A1W2PRM4_HUMAN
Nuclear receptor ROR-gamma
RORC
51Annotation 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 AAA64751 differs from that shown. Reason: Frameshift.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07372538S → L in IMD42; does not affect nuclear localization; loss of transcription regulatory region sequence-specific DNA binding; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs774357869EnsemblClinVar.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_0106321 – 21Missing in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_01063322 – 24HTS → MRT in isoform 2. 1 Publication3

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
U16997 mRNA Translation: AAA64751.1 Frameshift.
AL834219 mRNA Translation: CAD38900.1
AL589765 Genomic DNA No translation available.
BC031554 mRNA Translation: AAH31554.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1004.1 [P51449-1]
CCDS30856.1 [P51449-2]

Protein sequence database of the Protein Information Resource

More...PIRi		JC2494

NCBI Reference Sequences

More...RefSeqi		NP_001001523.1, NM_001001523.1 [P51449-2]
NP_005051.2, NM_005060.3 [P51449-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000318247; ENSP00000327025; ENSG00000143365 [P51449-1]
ENST00000356728; ENSP00000349164; ENSG00000143365 [P51449-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6097

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6097

UCSC genome browser

More...UCSCi		uc001ezg.4, human [P51449-1]

Keywords - Coding sequence diversityi

Alternative promoter usage

<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
U16997 mRNA Translation: AAA64751.1 Frameshift.
AL834219 mRNA Translation: CAD38900.1
AL589765 Genomic DNA No translation available.
BC031554 mRNA Translation: AAH31554.1
CCDSiCCDS1004.1 [P51449-1]
CCDS30856.1 [P51449-2]
PIRiJC2494
RefSeqiNP_001001523.1, NM_001001523.1 [P51449-2]
NP_005051.2, NM_005060.3 [P51449-1]

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
3B0WX-ray2.20A/B265-507[»]
3KYTX-ray2.35A265-507[»]
3L0JX-ray2.40A265-507[»]
3L0LX-ray1.74A/B260-507[»]
4NB6X-ray2.85A/B262-507[»]
4NIEX-ray2.01A/B263-509[»]
4QM0X-ray2.20A/C262-507[»]
4S14X-ray3.54A262-518[»]
4WLBX-ray1.70A/B262-507[»]
4WPFX-ray2.20A/D262-509[»]
4WQPX-ray1.99A/B262-507[»]
P480-492[»]
4XT9X-ray2.25A265-507[»]
4YMQX-ray2.00A260-507[»]
4YPQX-ray2.32A265-507[»]
4ZJRX-ray2.70A/B/C/D265-487[»]
4ZJWX-ray2.50A/B265-487[»]
4ZOMX-ray2.27A/B/C/D265-487[»]
5APHX-ray1.54A265-507[»]
5APJX-ray2.08A265-507[»]
5APKX-ray2.10A/B265-507[»]
D480-492[»]
5AYGX-ray2.60A/B261-518[»]
5C4OX-ray2.24A267-507[»]
5C4SX-ray2.23A267-507[»]
5C4TX-ray1.77A267-507[»]
5C4UX-ray2.08A267-507[»]
5EJVX-ray2.58A/B259-518[»]
5ETHX-ray2.80A/B267-487[»]
5G42X-ray1.72A265-507[»]
5G43X-ray2.58A265-507[»]
5G44X-ray1.84A265-507[»]
5G45X-ray2.07A265-507[»]
5G46X-ray1.76A265-507[»]
5IXKX-ray2.35A/B268-487[»]
5IZ0X-ray2.63A/B/D/G259-518[»]
5K38X-ray2.05A/B265-507[»]
5K3LX-ray2.75A/B/C/D265-507[»]
5K3MX-ray2.89A/B265-507[»]
5K3NX-ray2.67A/B/C/D265-507[»]
5K6EX-ray2.80A/B265-507[»]
5K74X-ray2.75A/B265-507[»]
5LWPX-ray2.40A265-506[»]
5M96X-ray1.77A/B263-491[»]
5NI5X-ray2.30A265-507[»]
5NI7X-ray2.45A265-507[»]
5NI8X-ray1.94A265-507[»]
5NIBX-ray1.82A265-507[»]
5NTIX-ray2.40A/B/C/D263-518[»]
5NTKX-ray1.90A/B263-491[»]
5NTNX-ray1.90A/B/C/D263-518[»]
5NTPX-ray1.70A263-499[»]
5NTQX-ray2.26A/B263-499[»]
5NTWX-ray1.64A/B/C/D263-518[»]
5NU1X-ray1.85A/B263-518[»]
5UFOX-ray2.80A265-507[»]
5UFRX-ray2.07A/B265-507[»]
5UHIX-ray3.20A/B265-507[»]
5VB3X-ray1.95A260-507[»]
5VB5X-ray2.23A260-507[»]
5VB6X-ray2.04A260-507[»]
5VB7X-ray2.33A260-507[»]
5VQKX-ray3.10A260-507[»]
5VQLX-ray2.70A260-507[»]
5W4RX-ray3.00A/B265-481[»]
5W4VX-ray2.65A/B/C/D/E/F266-475[»]
5X8QX-ray2.20A/C/E/G261-518[»]
5YP5X-ray2.65A265-507[»]
5YP6X-ray2.20A265-507[»]
5ZA1X-ray2.52A/B265-494[»]
6A22X-ray2.55A/C/E/G261-518[»]
6B30X-ray2.69A/B265-479[»]
6B31X-ray3.18A/B265-492[»]
6B33X-ray2.48A/B265-482[»]
6BN6X-ray2.40A/B265-508[»]
6BR2X-ray3.18A/B265-479[»]
6BR3X-ray3.00A/B265-480[»]
6CN5X-ray2.30A/B259-518[»]
6CN6X-ray2.45A259-517[»]
6CVHX-ray3.50A265-489[»]
6E3EX-ray2.47A/B265-481[»]
6E3GX-ray2.10A/B263-507[»]
6ESNX-ray1.84A265-507[»]
6FGQX-ray2.37A/B265-507[»]
6FZUX-ray1.80A/B263-518[»]
6G05X-ray1.90A/B263-518[»]
6G07X-ray1.66A/B/C/D263-518[»]
6IVXX-ray2.35A/C/E/G261-518[»]
6J1LX-ray2.30A/B/C262-507[»]
6J3NX-ray1.99A265-509[»]
6LO9X-ray1.86A260-507[»]
6LOAX-ray2.50A260-507[»]
6LOBX-ray2.40A260-507[»]
6LOCX-ray2.20A260-507[»]
6NADX-ray2.90A/B265-507[»]
6NWSX-ray2.44A265-507[»]
6NWTX-ray2.35A/C265-507[»]
6NWUX-ray3.20A265-507[»]
6O3ZX-ray2.40A259-508[»]
6O98X-ray2.29A/B265-508[»]
6P9FX-ray2.80A/B265-508[»]
6Q2WX-ray1.99A/B267-487[»]
6Q6MX-ray2.35A263-499[»]
6Q6OX-ray2.30A263-499[»]
6Q7AX-ray2.20A263-499[»]
6Q7HX-ray2.30A263-499[»]
6R7AX-ray2.13A265-507[»]
6R7JX-ray1.84A265-507[»]
6R7KX-ray1.54A265-507[»]
6SALX-ray1.61A265-507[»]
6SLZX-ray2.20A/B261-507[»]
6T4GX-ray1.93A265-507[»]
6T4IX-ray1.84A265-507[»]
6T4JX-ray1.79A265-507[»]
6T4KX-ray1.89A265-507[»]
6T4TX-ray1.62A267-507[»]
6T4UX-ray2.00A268-507[»]
6T4WX-ray1.71A268-507[»]
6T4XX-ray1.48A265-507[»]
6T4YX-ray1.95A265-507[»]
6T50X-ray1.87A265-507[»]
6TLMX-ray2.32A265-507[»]
6TLQX-ray1.76A265-507[»]
6TLTX-ray2.11A265-507[»]
6U25X-ray2.61A265-508[»]
6UCGX-ray2.87A267-507[»]
6VQFX-ray2.00A265-508[»]
6VSWX-ray3.20A/B261-492[»]
6W9HX-ray2.00A265-508[»]
6W9IX-ray1.61A265-508[»]
6XAEX-ray2.26A265-508[»]
6XFVX-ray2.15A/B265-508[»]
7JH2X-ray2.37A/B265-508[»]
7JTMX-ray2.43A265-508[»]
7JYMX-ray3.05A265-508[»]
7KQJX-ray2.65A265-508[»]
7KXDX-ray1.62A265-508[»]
7KXEX-ray2.42A265-508[»]
7KXFX-ray2.14A265-508[»]
SMRiP51449
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112024, 36 interactors
DIPiDIP-60622N
IntActiP51449, 32 interactors
MINTiP51449
STRINGi9606.ENSP00000327025

Chemistry databases

ChEMBLiCHEMBL1741186
DrugCentraliP51449
GuidetoPHARMACOLOGYi600

PTM databases

iPTMnetiP51449
PhosphoSitePlusiP51449

Genetic variation databases

BioMutaiRORC
DMDMi49066040

Proteomic databases

jPOSTiP51449
MassIVEiP51449
PaxDbiP51449
PeptideAtlasiP51449
PRIDEiP51449
ProteomicsDBi56305 [P51449-1]
56306 [P51449-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20336, 803 antibodies

The DNASU plasmid repository

More...DNASUi		6097

Genome annotation databases

EnsembliENST00000318247; ENSP00000327025; ENSG00000143365 [P51449-1]
ENST00000356728; ENSP00000349164; ENSG00000143365 [P51449-2]
GeneIDi6097
KEGGihsa:6097
UCSCiuc001ezg.4, human [P51449-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6097
DisGeNETi6097

GeneCards: human genes, protein and diseases

More...GeneCardsi		RORC
HGNCiHGNC:10260, RORC
HPAiENSG00000143365, Tissue enhanced (lymphoid tissue, skeletal muscle)
MalaCardsiRORC
MIMi602943, gene
616622, phenotype
neXtProtiNX_P51449
OpenTargetsiENSG00000143365
Orphaneti477857, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
PharmGKBiPA34632
VEuPathDBiHostDB:ENSG00000143365.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4216, Eukaryota
GeneTreeiENSGT00940000161521
HOGENOMiCLU_007368_2_0_1
InParanoidiP51449
OMAiQGPDSYC
OrthoDBi583704at2759
PhylomeDBiP51449
TreeFamiTF319910

Enzyme and pathway databases

PathwayCommonsiP51449
ReactomeiR-HSA-383280, Nuclear Receptor transcription pathway
R-HSA-6785807, Interleukin-4 and Interleukin-13 signaling
R-HSA-8949275, RUNX3 Regulates Immune Response and Cell Migration [P51449-2]
SIGNORiP51449

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6097, 8 hits in 1012 CRISPR screens

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

More...ChiTaRSi		RORC, human
EvolutionaryTraceiP51449

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RAR-related_orphan_receptor_gamma

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

More...GenomeRNAii		6097
PharosiP51449, Tchem

Protein Ontology

More...PROi		PR:P51449
RNActiP51449, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143365, Expressed in gastrocnemius and 124 other tissues
ExpressionAtlasiP51449, baseline and differential
GenevisibleiP51449, HS

Family and domain databases

CDDicd06968, NR_DBD_ROR, 1 hit
DisProtiDP01647
Gene3Di1.10.565.10, 1 hit
3.30.50.10, 1 hit
IDEALiIID00305
InterProiView protein in InterPro
IPR035500, NHR-like_dom_sf
IPR044101, NR_DBD_ROR
IPR000536, Nucl_hrmn_rcpt_lig-bd
IPR001723, Nuclear_hrmn_rcpt
IPR003079, ROR_rcpt
IPR001628, Znf_hrmn_rcpt
IPR013088, Znf_NHR/GATA
PfamiView protein in Pfam
PF00104, Hormone_recep, 1 hit
PF00105, zf-C4, 1 hit
PRINTSiPR01293, RORNUCRECPTR
PR00398, STRDHORMONER
PR00047, STROIDFINGER
SMARTiView protein in SMART
SM00430, HOLI, 1 hit
SM00399, ZnF_C4, 1 hit
SUPFAMiSSF48508, SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843, NR_LBD, 1 hit
PS00031, NUCLEAR_REC_DBD_1, 1 hit
PS51030, NUCLEAR_REC_DBD_2, 1 hit

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 nameiRORG_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: P51449
Secondary accession number(s): Q5SZR9, Q8N5V7, Q8NCY8
<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: October 1, 1996
Last sequence update: June 21, 2004
Last modified: June 2, 2021
This is version 201 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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