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Entry version 136 (29 Sep 2021)
Sequence version 2 (10 Jun 2008)
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Protein

Inactive rhomboid protein 1

Gene

RHBDF1

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.

4 Publications

<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 functionGrowth factor binding
Biological processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96CC6

Protein family/group databases

MEROPS protease database

More...
MEROPSi
S54.952

<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_and_taxonomy_section">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 1
Short name:
iRhom1
Alternative name(s):
Epidermal growth factor receptor-related protein
Rhomboid 5 homolog 1
Rhomboid family member 1
p100hRho
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:RHBDF1
Synonyms:C16orf8, DIST1, IRHOM1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20561, RHBDF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614403, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96CC6

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000007384

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 411CytoplasmicSequence analysisAdd BLAST411
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei412 – 432HelicalSequence analysisAdd BLAST21
Topological domaini433 – 655LumenalSequence analysisAdd BLAST223
Transmembranei656 – 676HelicalSequence analysisAdd BLAST21
Topological domaini677 – 691CytoplasmicSequence analysisAdd BLAST15
Transmembranei692 – 712HelicalSequence analysisAdd BLAST21
Topological domaini713 – 714LumenalSequence analysis2
Transmembranei715 – 735HelicalSequence analysisAdd BLAST21
Topological domaini736 – 746CytoplasmicSequence analysisAdd BLAST11
Transmembranei747 – 767HelicalSequence analysisAdd BLAST21
Topological domaini768 – 772LumenalSequence analysis5
Transmembranei773 – 793HelicalSequence analysisAdd BLAST21
Topological domaini794 – 803CytoplasmicSequence analysis10
Transmembranei804 – 824HelicalSequence analysisAdd BLAST21
Topological domaini825 – 855LumenalSequence analysisAdd BLAST31

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi131N → Q: No effect. 1 Publication1
Mutagenesisi381N → Q: No effect. 1 Publication1
Mutagenesisi583N → Q: Loss of N-glycosylation. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
64285

Open Targets

More...
OpenTargetsi
ENSG00000007384

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25563

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96CC6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RHBDF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
190360226

<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_00003401041 – 855Inactive rhomboid protein 1Add BLAST855

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 residuei76PhosphoserineCombined sources1
Modified residuei176PhosphoserineBy similarity1
Modified residuei180PhosphothreonineBy similarity1
Modified residuei183PhosphothreonineBy similarity1
Modified residuei390PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi583N-linked (GlcNAc...) asparagine1 Publication1

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

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96CC6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96CC6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96CC6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96CC6

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

More...
PaxDbi
Q96CC6

PeptideAtlas

More...
PeptideAtlasi
Q96CC6

PRoteomics IDEntifications database

More...
PRIDEi
Q96CC6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
76178

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q96CC6, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96CC6

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

More...
PhosphoSitePlusi
Q96CC6

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96CC6

<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

Highly expressed in cerebellum, cerebrum, heart, skeletal muscle, placenta, pancreatic islet and testis. Detected at lower levels in colon, kidney, small intestine and lung.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000007384, Expressed in tibial nerve and 220 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96CC6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96CC6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000007384, 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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer, or homooligomer.

Interacts with TGFA and HBEGF (PubMed:15965977).

Interacts with EGF; may retain EGF in the endoplasmic reticulum and regulates its degradation through the endoplasmic reticulum-associated degradation (ERAD) (PubMed:21439629).

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).

4 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
122129, 9 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q96CC6

Protein interaction database and analysis system

More...
IntActi
Q96CC6, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262316

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96CC6, 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

<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

<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
KOG2290, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156278

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_011531_1_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96CC6

Identification of Orthologs from Complete Genome Data

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OMAi
PHMDCAI

Database of Orthologous Groups

More...
OrthoDBi
1253228at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96CC6

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

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF144091, SSF144091, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q96CC6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSEARRDSTS SLQRKKPPWL KLDIPSAVPL TAEEPSFLQP LRRQAFLRSV
60 70 80 90 100
SMPAETAHIS SPHHELRRPV LQRQTSITQT IRRGTADWFG VSKDSDSTQK
110 120 130 140 150
WQRKSIRHCS QRYGKLKPQV LRELDLPSQD NVSLTSTETP PPLYVGPCQL
160 170 180 190 200
GMQKIIDPLA RGRAFRVADD TAEGLSAPHT PVTPGAASLC SFSSSRSGFH
210 220 230 240 250
RLPRRRKRES VAKMSFRAAA ALMKGRSVRD GTFRRAQRRS FTPASFLEED
260 270 280 290 300
TTDFPDELDT SFFAREGILH EELSTYPDEV FESPSEAALK DWEKAPEQAD
310 320 330 340 350
LTGGALDRSE LERSHLMLPL ERGWRKQKEG AAAPQPKVRL RQEVVSTAGP
360 370 380 390 400
RRGQRIAVPV RKLFAREKRP YGLGMVGRLT NRTYRKRIDS FVKRQIEDMD
410 420 430 440 450
DHRPFFTYWL TFVHSLVTIL AVCIYGIAPV GFSQHETVDS VLRNRGVYEN
460 470 480 490 500
VKYVQQENFW IGPSSEALIH LGAKFSPCMR QDPQVHSFIR SAREREKHSA
510 520 530 540 550
CCVRNDRSGC VQTSEEECSS TLAVWVKWPI HPSAPELAGH KRQFGSVCHQ
560 570 580 590 600
DPRVCDEPSS EDPHEWPEDI TKWPICTKNS AGNHTNHPHM DCVITGRPCC
610 620 630 640 650
IGTKGRCEIT SREYCDFMRG YFHEEATLCS QVHCMDDVCG LLPFLNPEVP
660 670 680 690 700
DQFYRLWLSL FLHAGILHCL VSICFQMTVL RDLEKLAGWH RIAIIYLLSG
710 720 730 740 750
VTGNLASAIF LPYRAEVGPA GSQFGILACL FVELFQSWQI LARPWRAFFK
760 770 780 790 800
LLAVVLFLFT FGLLPWIDNF AHISGFISGL FLSFAFLPYI SFGKFDLYRK
810 820 830 840 850
RCQIIIFQVV FLGLLAGLVV LFYVYPVRCE WCEFLTCIPF TDKFCEKYEL

DAQLH
Length:855
Mass (Da):97,401
Last modified:June 10, 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:iC39FCCE4CE89323B
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y6L9H0Y6L9_HUMAN
Inactive rhomboid protein 1
RHBDF1
232Annotation 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>
F8WBS4F8WBS4_HUMAN
Inactive rhomboid protein 1
RHBDF1
188Annotation 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>
A0A1B0GXG1A0A1B0GXG1_HUMAN
Inactive rhomboid protein 1
RHBDF1
162Annotation 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>
B8ZZ07B8ZZ07_HUMAN
Inactive rhomboid protein 1
RHBDF1 Z69719.3-012
137Annotation 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>
F8WCF7F8WCF7_HUMAN
Inactive rhomboid protein 1
RHBDF1
88Annotation 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 AAA02490 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAK61212 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence ABD95905 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence EAW85873 differs from that shown. Reason: Erroneous gene model prediction.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 conflicti5R → C in ABD95905 (PubMed:16728641).Curated1
Sequence conflicti237Q → R in AAH14425 (PubMed:15489334).Curated1
Sequence conflicti418T → A in BAB15318 (PubMed:14702039).Curated1
Sequence conflicti551 – 553DPR → GSQ in AAA02490 (PubMed:8318735).Curated3

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_044006265R → W. Corresponds to variant dbSNP:rs3213511Ensembl.1

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
DQ431198 Genomic DNA Translation: ABD95905.1 Sequence problems.
AK026010 mRNA Translation: BAB15318.1
AK291177 mRNA Translation: BAF83866.1
AE006462 Genomic DNA Translation: AAK61212.1 Sequence problems.
Z69719 Genomic DNA Translation: CAI95608.1
CH471112 Genomic DNA Translation: EAW85873.1 Sequence problems.
CH471112 Genomic DNA Translation: EAW85876.1
BC014425 mRNA Translation: AAH14425.1
M99624 mRNA Translation: AAA02490.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32344.1

NCBI Reference Sequences

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RefSeqi
NP_071895.3, NM_022450.3
XP_005255551.1, XM_005255494.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262316; ENSP00000262316; ENSG00000007384

Database of genes from NCBI RefSeq genomes

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GeneIDi
64285

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64285

UCSC genome browser

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UCSCi
uc002cfl.4, human

<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
DQ431198 Genomic DNA Translation: ABD95905.1 Sequence problems.
AK026010 mRNA Translation: BAB15318.1
AK291177 mRNA Translation: BAF83866.1
AE006462 Genomic DNA Translation: AAK61212.1 Sequence problems.
Z69719 Genomic DNA Translation: CAI95608.1
CH471112 Genomic DNA Translation: EAW85873.1 Sequence problems.
CH471112 Genomic DNA Translation: EAW85876.1
BC014425 mRNA Translation: AAH14425.1
M99624 mRNA Translation: AAA02490.1 Different initiation.
CCDSiCCDS32344.1
RefSeqiNP_071895.3, NM_022450.3
XP_005255551.1, XM_005255494.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi122129, 9 interactors
ELMiQ96CC6
IntActiQ96CC6, 4 interactors
STRINGi9606.ENSP00000262316

Protein family/group databases

MEROPSiS54.952

PTM databases

GlyGeniQ96CC6, 1 site
iPTMnetiQ96CC6
PhosphoSitePlusiQ96CC6
SwissPalmiQ96CC6

Genetic variation databases

BioMutaiRHBDF1
DMDMi190360226

Proteomic databases

EPDiQ96CC6
jPOSTiQ96CC6
MassIVEiQ96CC6
MaxQBiQ96CC6
PaxDbiQ96CC6
PeptideAtlasiQ96CC6
PRIDEiQ96CC6
ProteomicsDBi76178

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
22449, 38 antibodies

The DNASU plasmid repository

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DNASUi
64285

Genome annotation databases

EnsembliENST00000262316; ENSP00000262316; ENSG00000007384
GeneIDi64285
KEGGihsa:64285
UCSCiuc002cfl.4, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64285
DisGeNETi64285

GeneCards: human genes, protein and diseases

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GeneCardsi
RHBDF1
HGNCiHGNC:20561, RHBDF1
HPAiENSG00000007384, Low tissue specificity
MIMi614403, gene
neXtProtiNX_Q96CC6
OpenTargetsiENSG00000007384
PharmGKBiPA25563
VEuPathDBiHostDB:ENSG00000007384

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2290, Eukaryota
GeneTreeiENSGT00940000156278
HOGENOMiCLU_011531_1_1_1
InParanoidiQ96CC6
OMAiPHMDCAI
OrthoDBi1253228at2759
PhylomeDBiQ96CC6
TreeFamiTF312988

Enzyme and pathway databases

PathwayCommonsiQ96CC6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
64285, 26 hits in 1018 CRISPR screens

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

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ChiTaRSi
RHBDF1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RHBDF1

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

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GenomeRNAii
64285
PharosiQ96CC6, Tbio

Protein Ontology

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PROi
PR:Q96CC6
RNActiQ96CC6, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000007384, Expressed in tibial nerve and 220 other tissues
ExpressionAtlasiQ96CC6, baseline and differential
GenevisibleiQ96CC6, 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
SUPFAMiSSF144091, SSF144091, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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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 nameiRHDF1_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: Q96CC6
Secondary accession number(s): Q04842
, Q1W6H2, Q4TT59, Q96S34, Q9H6E1
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: September 29, 2021
This is version 136 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. Peptidase families
    Classification of peptidase families and list of entries
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families
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