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Entry version 129 (12 Aug 2020)
Sequence version 1 (01 Jun 2002)
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Protein

Rhomboid-related protein 4

Gene

RHBDD1

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

Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia.2 Publications

Caution

One study reported that the protein is not localized in the mitochondrion.1 Publication

<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

  • Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains. EC:3.4.21.105

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by aprotinin.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei144NucleophileBy similarity1
Active sitei195By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Serine protease
Biological processApoptosis, Differentiation, Spermatogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8TEB9

Protein family/group databases

MEROPS protease database

More...
MEROPSi
S54.008

Transport Classification Database

More...
TCDBi
9.B.104.4.1, the rhomboid protease (rhomboid) family

<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:
Rhomboid-related protein 4 (EC:3.4.21.105)
Short name:
RRP4
Alternative name(s):
Rhomboid domain-containing protein 1
Rhomboid-like protein 4
<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:RHBDD1
Synonyms:RHBDL4
ORF Names:HSD-50, HSD50
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000144468.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23081, RHBDD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617515, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TEB9

<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 – 21CytoplasmicSequence analysisAdd BLAST21
<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>Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Topological domaini43 – 106ExtracellularSequence analysisAdd BLAST64
Transmembranei107 – 127HelicalSequence analysisAdd BLAST21
Topological domaini128 – 138CytoplasmicSequence analysisAdd BLAST11
Transmembranei139 – 157HelicalSequence analysisAdd BLAST19
Topological domaini158 – 180ExtracellularSequence analysisAdd BLAST23
Transmembranei181 – 201HelicalSequence analysisAdd BLAST21
Topological domaini202 – 315CytoplasmicSequence analysisAdd BLAST114

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

<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

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>Mutagenesisi142G → A: Enzyme inactivation. Reduces the cleavage of BIK. 1 Publication1
Mutagenesisi144S → A: Enzyme inactivation. Reduces the cleavage of BIK and TSAP6. Increases TSAP6-mediated exosome secretion. 2 Publications1

Organism-specific databases

DisGeNET

More...
DisGeNETi
84236

Open Targets

More...
OpenTargetsi
ENSG00000144468

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485593

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TEB9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RHBDD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74723955

<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_00002541891 – 315Rhomboid-related protein 4Add BLAST315

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TEB9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TEB9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TEB9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TEB9

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

More...
PaxDbi
Q8TEB9

PeptideAtlas

More...
PeptideAtlasi
Q8TEB9

PRoteomics IDEntifications database

More...
PRIDEi
Q8TEB9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74441 [Q8TEB9-1]
74442 [Q8TEB9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TEB9

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

More...
PhosphoSitePlusi
Q8TEB9

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

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

Expressed strongly in testis.

<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 by endoplasmic reticulum stress agents that induce the unfolded protein response (UPR).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000144468, Expressed in corpus callosum and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8TEB9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TEB9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000144468, 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 (via C-terminal domain) with VCP.

Interacts with ubiquitin and ubiquitinated proteins (By similarity).

Interacts with BIK and STEAP3.

By similarity2 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)

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BioGRIDi
123968, 209 interactors

Protein interaction database and analysis system

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IntActi
Q8TEB9, 27 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000375914

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TEB9, 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

1315
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q8TEB9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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>Regioni269 – 284Ubiquitin-binding domain (UBD)By similarityAdd BLAST16
Regioni301 – 315VCP/p97-interacting motif (VIM)By similarityAdd BLAST15

<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

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eggNOGi
KOG2632, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000010744

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_075166_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TEB9

KEGG Orthology (KO)

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KOi
K09651

Identification of Orthologs from Complete Genome Data

More...
OMAi
FHHADDW

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TEB9

TreeFam database of animal gene trees

More...
TreeFami
TF328476

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.1540.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR022764, Peptidase_S54_rhomboid_dom
IPR035952, Rhomboid-like_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01694, Rhomboid, 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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TEB9-1) [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
MQRRSRGINT GLILLLSQIF HVGINNIPPV TLATLALNIW FFLNPQKPLY
60 70 80 90 100
SSCLSVEKCY QQKDWQRLLL SPLHHADDWH LYFNMASMLW KGINLERRLG
110 120 130 140 150
SRWFAYVITA FSVLTGVVYL LLQFAVAEFM DEPDFKRSCA VGFSGVLFAL
160 170 180 190 200
KVLNNHYCPG GFVNILGFPV PNRFACWVEL VAIHLFSPGT SFAGHLAGIL
210 220 230 240 250
VGLMYTQGPL KKIMEACAGG FSSSVGYPGR QYYFNSSGSS GYQDYYPHGR
260 270 280 290 300
PDHYEEAPRN YDTYTAGLSE EEQLERALQA SLWDRGNTRN SPPPYGFHLS
310
PEEMRRQRLH RFDSQ
Length:315
Mass (Da):35,823
Last modified:June 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAF81BA8D907BDC63
GO
Isoform 2 (identifier: Q8TEB9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-209: Missing.
     210-218: LKKIMEACA → MPVFLFKPK

Show »
Length:106
Mass (Da):12,346
Checksum:iD757B01FCFCA3B4A
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9K011C9K011_HUMAN
Rhomboid-related protein 4
RHBDD1
151Annotation 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>
C9J1R4C9J1R4_HUMAN
Rhomboid-related protein 4
RHBDD1
134Annotation 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>
C9JQK8C9JQK8_HUMAN
Rhomboid-related protein 4
RHBDD1
124Annotation 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>
B9A054B9A054_HUMAN
Rhomboid-related protein 4
RHBDD1
157Annotation 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>
C9JAS2C9JAS2_HUMAN
Rhomboid-related protein 4
RHBDD1
54Annotation 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>
C9J4C7C9J4C7_HUMAN
Rhomboid-related protein 4
RHBDD1
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti263T → M in AAI01263 (PubMed:15489334).Curated1

Natural variant

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_034454110A → T. Corresponds to variant dbSNP:rs35731955Ensembl.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_0212031 – 209Missing in isoform 2. 1 PublicationAdd BLAST209
Alternative sequenceiVSP_021204210 – 218LKKIMEACA → MPVFLFKPK in isoform 2. 1 Publication9

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY640233 mRNA Translation: AAU14246.1
AK074258 mRNA Translation: BAB85031.1
AC010735 Genomic DNA No translation available.
AC073149 Genomic DNA Translation: AAY24060.1
BC027900 mRNA Translation: AAH27900.1
BC062636 mRNA Translation: AAH62636.1
BC089404 mRNA Translation: AAH89404.1
BC101262 mRNA Translation: AAI01263.1
BC101263 mRNA Translation: AAI01264.1
BC101264 mRNA Translation: AAI01265.1
BC101265 mRNA Translation: AAI01266.1
BC111056 mRNA Translation: AAI11057.1
AL512717 mRNA Translation: CAC21658.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS2464.1 [Q8TEB9-1]

NCBI Reference Sequences

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RefSeqi
NP_001161080.1, NM_001167608.1 [Q8TEB9-1]
NP_115652.2, NM_032276.3 [Q8TEB9-1]
XP_016860572.1, XM_017005083.1 [Q8TEB9-1]
XP_016860573.1, XM_017005084.1 [Q8TEB9-1]
XP_016860574.1, XM_017005085.1 [Q8TEB9-1]
XP_016860575.1, XM_017005086.1 [Q8TEB9-1]
XP_016860576.1, XM_017005087.1 [Q8TEB9-1]
XP_016860577.1, XM_017005088.1 [Q8TEB9-1]
XP_016860578.1, XM_017005089.1
XP_016860579.1, XM_017005090.1 [Q8TEB9-1]
XP_016860580.1, XM_017005091.1
XP_016860581.1, XM_017005092.1 [Q8TEB9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000341329; ENSP00000344779; ENSG00000144468 [Q8TEB9-1]
ENST00000392062; ENSP00000375914; ENSG00000144468 [Q8TEB9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84236

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84236

UCSC genome browser

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UCSCi
uc002voi.4, human [Q8TEB9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY640233 mRNA Translation: AAU14246.1
AK074258 mRNA Translation: BAB85031.1
AC010735 Genomic DNA No translation available.
AC073149 Genomic DNA Translation: AAY24060.1
BC027900 mRNA Translation: AAH27900.1
BC062636 mRNA Translation: AAH62636.1
BC089404 mRNA Translation: AAH89404.1
BC101262 mRNA Translation: AAI01263.1
BC101263 mRNA Translation: AAI01264.1
BC101264 mRNA Translation: AAI01265.1
BC101265 mRNA Translation: AAI01266.1
BC111056 mRNA Translation: AAI11057.1
AL512717 mRNA Translation: CAC21658.2
CCDSiCCDS2464.1 [Q8TEB9-1]
RefSeqiNP_001161080.1, NM_001167608.1 [Q8TEB9-1]
NP_115652.2, NM_032276.3 [Q8TEB9-1]
XP_016860572.1, XM_017005083.1 [Q8TEB9-1]
XP_016860573.1, XM_017005084.1 [Q8TEB9-1]
XP_016860574.1, XM_017005085.1 [Q8TEB9-1]
XP_016860575.1, XM_017005086.1 [Q8TEB9-1]
XP_016860576.1, XM_017005087.1 [Q8TEB9-1]
XP_016860577.1, XM_017005088.1 [Q8TEB9-1]
XP_016860578.1, XM_017005089.1
XP_016860579.1, XM_017005090.1 [Q8TEB9-1]
XP_016860580.1, XM_017005091.1
XP_016860581.1, XM_017005092.1 [Q8TEB9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EPPX-ray1.88B300-314[»]
SMRiQ8TEB9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123968, 209 interactors
IntActiQ8TEB9, 27 interactors
STRINGi9606.ENSP00000375914

Protein family/group databases

MEROPSiS54.008
TCDBi9.B.104.4.1, the rhomboid protease (rhomboid) family

PTM databases

iPTMnetiQ8TEB9
PhosphoSitePlusiQ8TEB9

Polymorphism and mutation databases

BioMutaiRHBDD1
DMDMi74723955

Proteomic databases

EPDiQ8TEB9
jPOSTiQ8TEB9
MassIVEiQ8TEB9
MaxQBiQ8TEB9
PaxDbiQ8TEB9
PeptideAtlasiQ8TEB9
PRIDEiQ8TEB9
ProteomicsDBi74441 [Q8TEB9-1]
74442 [Q8TEB9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
3019, 68 antibodies

Genome annotation databases

EnsembliENST00000341329; ENSP00000344779; ENSG00000144468 [Q8TEB9-1]
ENST00000392062; ENSP00000375914; ENSG00000144468 [Q8TEB9-1]
GeneIDi84236
KEGGihsa:84236
UCSCiuc002voi.4, human [Q8TEB9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84236
DisGeNETi84236
EuPathDBiHostDB:ENSG00000144468.16

GeneCards: human genes, protein and diseases

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GeneCardsi
RHBDD1
HGNCiHGNC:23081, RHBDD1
HPAiENSG00000144468, Low tissue specificity
MIMi617515, gene
neXtProtiNX_Q8TEB9
OpenTargetsiENSG00000144468
PharmGKBiPA143485593

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2632, Eukaryota
GeneTreeiENSGT00390000010744
HOGENOMiCLU_075166_0_0_1
InParanoidiQ8TEB9
KOiK09651
OMAiFHHADDW
PhylomeDBiQ8TEB9
TreeFamiTF328476

Enzyme and pathway databases

PathwayCommonsiQ8TEB9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
84236, 5 hits in 870 CRISPR screens

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

More...
ChiTaRSi
RHBDD1, human

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

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GenomeRNAii
84236
PharosiQ8TEB9, Tbio

Protein Ontology

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PROi
PR:Q8TEB9
RNActiQ8TEB9, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000144468, Expressed in corpus callosum and 213 other tissues
ExpressionAtlasiQ8TEB9, baseline and differential
GenevisibleiQ8TEB9, HS

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR022764, Peptidase_S54_rhomboid_dom
IPR035952, Rhomboid-like_sf
PfamiView protein in Pfam
PF01694, Rhomboid, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiRHBL4_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: Q8TEB9
Secondary accession number(s): Q495B9
, Q53S43, Q5EBM8, Q6P5V8, Q8IV60, Q9H057
<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 31, 2006
Last sequence update: June 1, 2002
Last modified: August 12, 2020
This is version 129 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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