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UniProtKB - Q6PJF5 (RHDF2_HUMAN)

Entry version 138 (10 Feb 2021)
Sequence version 2 (01 Jul 2008)
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Protein

Inactive rhomboid protein 2

Gene

RHBDF2

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

Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own.By similarity

<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 functionGrowth factor binding
Biological processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6PJF5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9662834, CD163 mediating an anti-inflammatory response

Protein family/group databases

MEROPS protease database

More...MEROPSi		S54.953

<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:
Inactive rhomboid protein 2
Short name:
iRhom2
Alternative name(s):
Rhomboid 5 homolog 2
Rhomboid family member 2
Rhomboid veinlet-like protein 5
Rhomboid veinlet-like protein 6
<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:RHBDF2
Synonyms:IRHOM2, RHBDL5, RHBDL6
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20788, RHBDF2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614404, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6PJF5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000129667.12

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 409CytoplasmicSequence analysisAdd BLAST409
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei410 – 430HelicalSequence analysisAdd BLAST21
Topological domaini431 – 660LumenalSequence analysisAdd BLAST230
Transmembranei661 – 681HelicalSequence analysisAdd BLAST21
Topological domaini682 – 692CytoplasmicSequence analysisAdd BLAST11
Transmembranei693 – 713HelicalSequence analysisAdd BLAST21
Topological domaini714 – 715LumenalSequence analysis2
Transmembranei716 – 736HelicalSequence analysisAdd BLAST21
Topological domaini737 – 747CytoplasmicSequence analysisAdd BLAST11
Transmembranei748 – 768HelicalSequence analysisAdd BLAST21
Topological domaini769 – 773LumenalSequence analysis5
Transmembranei774 – 794HelicalSequence analysisAdd BLAST21
Topological domaini795 – 802CytoplasmicSequence analysis8
Transmembranei803 – 823HelicalSequence analysisAdd BLAST21
Topological domaini824 – 856LumenalSequence analysisAdd BLAST33

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

<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

Tylosis with esophageal cancer (TOC)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.
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_067827186I → T in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907129EnsemblClinVar.1
Natural variantiVAR_067828189P → L in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907130EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

More...DisGeNETi		79651

MalaCards human disease database

More...MalaCardsi		RHBDF2
MIMi148500, phenotype

Open Targets

More...OpenTargetsi		ENSG00000129667

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

More...Orphaneti		2198, Palmoplantar keratoderma-esophageal carcinoma syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134980674

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6PJF5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RHBDF2

Domain mapping of disease mutations (DMDM)

More...DMDMi		193806488

<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_00003419381 – 856Inactive rhomboid protein 2Add BLAST856

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 residuei90PhosphoserineCombined sources1
Modified residuei113PhosphoserineCombined sources1
Modified residuei117PhosphoserineBy similarity1
Modified residuei323PhosphoserineBy similarity1
Modified residuei325PhosphoserineCombined sources1
Modified residuei328PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6PJF5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6PJF5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6PJF5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6PJF5

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

More...PaxDbi		Q6PJF5

PeptideAtlas

More...PeptideAtlasi		Q6PJF5

PRoteomics IDEntifications database

More...PRIDEi		Q6PJF5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67199 [Q6PJF5-1]
67200 [Q6PJF5-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6PJF5, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6PJF5

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

More...PhosphoSitePlusi		Q6PJF5

<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

Found in the epidermis and esophageal epithelium.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000129667, Expressed in granulocyte and 206 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6PJF5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6PJF5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000129667, 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

Interacts with EGF (By similarity).

Interacts (via cytoplasmic N-terminus) with FRMD8/iTAP; this interaction leads to mutual protein stabilization (PubMed:29897333, PubMed:29897336).

Interacts with ADAM17/TACE (PubMed:29897333, PubMed:29897336).

By similarity2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122779, 127 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q6PJF5

Protein interaction database and analysis system

More...IntActi		Q6PJF5, 11 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000322775

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6PJF5, protein

<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

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>Regioni191 – 271Involved in interaction with FRMD81 PublicationAdd BLAST81

<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 peptidase S54 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2290, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159027

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011531_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6PJF5

Identification of Orthologs from Complete Genome Data

More...OMAi		WKAFFNL

Database of Orthologous Groups

More...OrthoDBi		1253228at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6PJF5

TreeFam database of animal gene trees

More...TreeFami		TF312988

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1540.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR022764, Peptidase_S54_rhomboid_dom
IPR035952, Rhomboid-like_sf
IPR022241, Rhomboid_SP

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01694, Rhomboid, 1 hit
PF12595, Rhomboid_SP, 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. 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

This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6PJF5-1) [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
MASADKNGGS VSSVSSSRLQ SRKPPNLSIT IPPPEKETQA PGEQDSMLPE 
        60         70         80         90        100
GFQNRRLKKS QPRTWAAHTT ACPPSFLPKR KNPAYLKSVS LQEPRSRWQE 
       110        120        130        140        150
SSEKRPGFRR QASLSQSIRK GAAQWFGVSG DWEGQRQQWQ RRSLHHCSMR 
       160        170        180        190        200
YGRLKASCQR DLELPSQEAP SFQGTESPKP CKMPKIVDPL ARGRAFRHPE 
       210        220        230        240        250
EMDRPHAPHP PLTPGVLSLT SFTSVRSGYS HLPRRKRMSV AHMSLQAAAA 
       260        270        280        290        300
LLKGRSVLDA TGQRCRVVKR SFAFPSFLEE DVVDGADTFD SSFFSKEEMS 
       310        320        330        340        350
SMPDDVFESP PLSASYFRGI PHSASPVSPD GVQIPLKEYG RAPVPGPRRG 
       360        370        380        390        400
KRIASKVKHF AFDRKKRHYG LGVVGNWLNR SYRRSISSTV QRQLESFDSH 
       410        420        430        440        450
RPYFTYWLTF VHVIITLLVI CTYGIAPVGF AQHVTTQLVL RNKGVYESVK 
       460        470        480        490        500
YIQQENFWVG PSSIDLIHLG AKFSPCIRKD GQIEQLVLRE RDLERDSGCC 
       510        520        530        540        550
VQNDHSGCIQ TQRKDCSETL ATFVKWQDDT GPPMDKSDLG QKRTSGAVCH 
       560        570        580        590        600
QDPRTCEEPA SSGAHIWPDD ITKWPICTEQ ARSNHTGFLH MDCEIKGRPC 
       610        620        630        640        650
CIGTKGSCEI TTREYCEFMH GYFHEEATLC SQVHCLDKVC GLLPFLNPEV 
       660        670        680        690        700
PDQFYRLWLS LFLHAGVVHC LVSVVFQMTI LRDLEKLAGW HRIAIIFILS 
       710        720        730        740        750
GITGNLASAI FLPYRAEVGP AGSQFGLLAC LFVELFQSWP LLERPWKAFL 
       760        770        780        790        800
NLSAIVLFLF ICGLLPWIDN IAHIFGFLSG LLLAFAFLPY ITFGTSDKYR 
       810        820        830        840        850
KRALILVSLL AFAGLFAALV LWLYIYPINW PWIEHLTCFP FTSRFCEKYE 

LDQVLH
Length:856
Mass (Da):96,686
Last modified:July 1, 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:i69C40A21EBDBDDC0
GO
Isoform 2 (identifier: Q6PJF5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     51-79: Missing.

Show »
Length:827
Mass (Da):93,379
Checksum:iEEE77126D9D48F86
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EPV3K7EPV3_HUMAN
Inactive rhomboid protein 2
RHBDF2
185Annotation 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>
K7EPN8K7EPN8_HUMAN
Inactive rhomboid protein 2
RHBDF2
86Annotation 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>
K7EKA3K7EKA3_HUMAN
Inactive rhomboid protein 2
RHBDF2
73Annotation 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>
K7EQ53K7EQ53_HUMAN
Inactive rhomboid protein 2
RHBDF2
89Annotation 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>
K7EIY3K7EIY3_HUMAN
Inactive rhomboid protein 2
RHBDF2
74Annotation 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>
K7EQT5K7EQT5_HUMAN
Inactive rhomboid protein 2
RHBDF2
47Annotation 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>
K7EKI1K7EKI1_HUMAN
Inactive rhomboid protein 2
RHBDF2
112Annotation 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>
K7EJ10K7EJ10_HUMAN
Inactive rhomboid protein 2
RHBDF2
28Annotation 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>
K7ELA9K7ELA9_HUMAN
Inactive rhomboid protein 2
RHBDF2
26Annotation 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>
K7EJD6K7EJD6_HUMAN
Inactive rhomboid protein 2
RHBDF2
13Annotation 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 AAH35829 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB15310 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 conflicti67A → S in BAF84824 (PubMed:14702039).Curated1
Sequence conflicti67A → S in AAH16034 (PubMed:15489334).Curated1
Sequence conflicti705N → D in BAF84855 (PubMed:14702039).Curated1
Sequence conflicti852D → G in BAF84855 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067827186I → T in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907129EnsemblClinVar.1
Natural variantiVAR_067828189P → L in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907130EnsemblClinVar.1
Natural variantiVAR_044125208P → L3 PublicationsCorresponds to variant dbSNP:rs3744045EnsemblClinVar.1
Natural variantiVAR_044126249A → T. Corresponds to variant dbSNP:rs34814954EnsemblClinVar.1
Natural variantiVAR_044127528D → Y. Corresponds to variant dbSNP:rs11553545EnsemblClinVar.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_03436851 – 79Missing in isoform 2. 2 PublicationsAdd BLAST29

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
AY500247 mRNA Translation: AAS77567.1
AK025994 mRNA Translation: BAB15310.1 Different initiation.
AK292135 mRNA Translation: BAF84824.1
AK292166 mRNA Translation: BAF84855.1
AC015802 Genomic DNA No translation available.
BC035829 mRNA Translation: AAH35829.1 Different initiation.
BC016034 mRNA Translation: AAH16034.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32743.1 [Q6PJF5-1]
CCDS32744.1 [Q6PJF5-2]

NCBI Reference Sequences

More...RefSeqi		NP_001005498.2, NM_001005498.3 [Q6PJF5-2]
NP_078875.4, NM_024599.5 [Q6PJF5-1]
XP_005257726.1, XM_005257669.3 [Q6PJF5-1]
XP_005257727.1, XM_005257670.1
XP_011523551.1, XM_011525249.2 [Q6PJF5-2]
XP_011523552.1, XM_011525250.2 [Q6PJF5-2]
XP_011523553.1, XM_011525251.2 [Q6PJF5-2]
XP_016880568.1, XM_017025079.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000313080; ENSP00000322775; ENSG00000129667 [Q6PJF5-1]
ENST00000591885; ENSP00000466867; ENSG00000129667 [Q6PJF5-2]
ENST00000675367; ENSP00000501790; ENSG00000129667 [Q6PJF5-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79651

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79651

UCSC genome browser

More...UCSCi		uc002jrq.3, human [Q6PJF5-1]

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
AY500247 mRNA Translation: AAS77567.1
AK025994 mRNA Translation: BAB15310.1 Different initiation.
AK292135 mRNA Translation: BAF84824.1
AK292166 mRNA Translation: BAF84855.1
AC015802 Genomic DNA No translation available.
BC035829 mRNA Translation: AAH35829.1 Different initiation.
BC016034 mRNA Translation: AAH16034.2
CCDSiCCDS32743.1 [Q6PJF5-1]
CCDS32744.1 [Q6PJF5-2]
RefSeqiNP_001005498.2, NM_001005498.3 [Q6PJF5-2]
NP_078875.4, NM_024599.5 [Q6PJF5-1]
XP_005257726.1, XM_005257669.3 [Q6PJF5-1]
XP_005257727.1, XM_005257670.1
XP_011523551.1, XM_011525249.2 [Q6PJF5-2]
XP_011523552.1, XM_011525250.2 [Q6PJF5-2]
XP_011523553.1, XM_011525251.2 [Q6PJF5-2]
XP_016880568.1, XM_017025079.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi122779, 127 interactors
ELMiQ6PJF5
IntActiQ6PJF5, 11 interactors
STRINGi9606.ENSP00000322775

Protein family/group databases

MEROPSiS54.953

PTM databases

GlyGeniQ6PJF5, 1 site
iPTMnetiQ6PJF5
PhosphoSitePlusiQ6PJF5

Genetic variation databases

BioMutaiRHBDF2
DMDMi193806488

Proteomic databases

EPDiQ6PJF5
jPOSTiQ6PJF5
MassIVEiQ6PJF5
MaxQBiQ6PJF5
PaxDbiQ6PJF5
PeptideAtlasiQ6PJF5
PRIDEiQ6PJF5
ProteomicsDBi67199 [Q6PJF5-1]
67200 [Q6PJF5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19692, 64 antibodies

Genome annotation databases

EnsembliENST00000313080; ENSP00000322775; ENSG00000129667 [Q6PJF5-1]
ENST00000591885; ENSP00000466867; ENSG00000129667 [Q6PJF5-2]
ENST00000675367; ENSP00000501790; ENSG00000129667 [Q6PJF5-2]
GeneIDi79651
KEGGihsa:79651
UCSCiuc002jrq.3, human [Q6PJF5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79651
DisGeNETi79651

GeneCards: human genes, protein and diseases

More...GeneCardsi		RHBDF2
HGNCiHGNC:20788, RHBDF2
HPAiENSG00000129667, Low tissue specificity
MalaCardsiRHBDF2
MIMi148500, phenotype
614404, gene
neXtProtiNX_Q6PJF5
OpenTargetsiENSG00000129667
Orphaneti2198, Palmoplantar keratoderma-esophageal carcinoma syndrome
PharmGKBiPA134980674
VEuPathDBiHostDB:ENSG00000129667.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2290, Eukaryota
GeneTreeiENSGT00940000159027
HOGENOMiCLU_011531_1_1_1
InParanoidiQ6PJF5
OMAiWKAFFNL
OrthoDBi1253228at2759
PhylomeDBiQ6PJF5
TreeFamiTF312988

Enzyme and pathway databases

PathwayCommonsiQ6PJF5
ReactomeiR-HSA-9662834, CD163 mediating an anti-inflammatory response

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79651, 6 hits in 873 CRISPR screens

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

More...ChiTaRSi		RHBDF2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RHBDF2

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

More...GenomeRNAii		79651
PharosiQ6PJF5, Tbio

Protein Ontology

More...PROi		PR:Q6PJF5
RNActiQ6PJF5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000129667, Expressed in granulocyte and 206 other tissues
ExpressionAtlasiQ6PJF5, baseline and differential
GenevisibleiQ6PJF5, HS

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR022764, Peptidase_S54_rhomboid_dom
IPR035952, Rhomboid-like_sf
IPR022241, Rhomboid_SP
PfamiView protein in Pfam
PF01694, Rhomboid, 1 hit
PF12595, Rhomboid_SP, 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 nameiRHDF2_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: Q6PJF5
Secondary accession number(s): A6NEM3
, A8K801, Q5U607, Q5YGQ8, Q9H6E9
<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: July 1, 2008
Last sequence update: July 1, 2008
Last modified: February 10, 2021
This is version 138 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

Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human entries with genetic variants
    List of human entries with genetic variants
  6. Peptidase families
    Classification of peptidase families and list of entries
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