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Protein

Rhomboid-related protein 2

Gene

RHBDL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3.2 Publications

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei187Nucleophile1
Active sitei2501

GO - Molecular functioni

  • serine-type endopeptidase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Enzyme and pathway databases

BioCyciZFISH:HS08280-MONOMER.
BRENDAi3.4.21.105. 2681.

Protein family/group databases

MEROPSiS54.002.

Names & Taxonomyi

Protein namesi
Recommended name:
Rhomboid-related protein 2 (EC:3.4.21.105)
Short name:
RRP2
Alternative name(s):
Rhomboid-like protein 2
Cleaved into the following 2 chains:
Gene namesi
Name:RHBDL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:16083. RHBDL2.

Subcellular locationi

Rhomboid-related protein 2, C-terminal fragment :
  • Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Transmembranei128 – 148HelicalSequence analysisAdd BLAST21
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Transmembranei212 – 232HelicalSequence analysisAdd BLAST21
Transmembranei245 – 265HelicalSequence analysisAdd BLAST21
Transmembranei278 – 298HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: GO_Central
  • mitochondrial inner membrane Source: GO_Central
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi121W → A: Reduces protease activity. 2 Publications1
Mutagenesisi122R → A: Abolishes protease activity, prevents processing and alters localization to the plasma membrane of N-terminal fragment. 2 Publications1
Mutagenesisi139N → A: Reduces protease activity. 1 Publication1
Mutagenesisi185G → A: Abolishes protease activity. 1 Publication1
Mutagenesisi187S → A or G: Abolishes protease activity. 2 Publications1
Mutagenesisi250H → A: Abolishes protease activity. 1 Publication1

Organism-specific databases

DisGeNETi54933.
OpenTargetsiENSG00000158315.
PharmGKBiPA34383.

Polymorphism and mutation databases

BioMutaiRHBDL2.
DMDMi59800189.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000408509? – 303Rhomboid-related protein 2, C-terminal fragment
ChainiPRO_00002061761 – 303Rhomboid-related protein 2Add BLAST303
ChainiPRO_00004085101 – ?Rhomboid-related protein 2, N-terminal fragment

Post-translational modificationi

Proteolytic processing of the proenzyme produces a N-terminal fragment (NTF) and a C-terminal fragment (CTF). The processing is required for activation of the protease.1 Publication

Proteomic databases

MaxQBiQ9NX52.
PaxDbiQ9NX52.
PeptideAtlasiQ9NX52.
PRIDEiQ9NX52.

PTM databases

iPTMnetiQ9NX52.
PhosphoSitePlusiQ9NX52.

Expressioni

Gene expression databases

BgeeiENSG00000158315.
CleanExiHS_RHBDL2.
GenevisibleiQ9NX52. HS.

Organism-specific databases

HPAiHPA043807.

Interactioni

Protein-protein interaction databases

BioGridi120273. 2 interactors.
STRINGi9606.ENSP00000289248.

Structurei

3D structure databases

ProteinModelPortaliQ9NX52.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi22 – 28Poly-Glu7

Sequence similaritiesi

Belongs to the peptidase S54 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2289. Eukaryota.
COG0705. LUCA.
GeneTreeiENSGT00390000005726.
HOGENOMiHOG000231407.
HOVERGENiHBG105855.
InParanoidiQ9NX52.
KOiK02857.
OMAiWMLPEKV.
OrthoDBiEOG091G12OK.
PhylomeDBiQ9NX52.
TreeFamiTF313540.

Family and domain databases

Gene3Di1.20.1540.10. 1 hit.
InterProiIPR002610. Peptidase_S54_rhomboid.
IPR022764. Peptidase_S54_rhomboid_dom.
IPR017213. Peptidase_S54_rhomboid_met.
[Graphical view]
PANTHERiPTHR22936. PTHR22936. 1 hit.
PfamiPF01694. Rhomboid. 1 hit.
[Graphical view]
PIRSFiPIRSF037470. Rhomboid. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NX52-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MAAVHDLEME SMNLNMGREM KEELEEEEKM REDGGGKDRA KSKKVHRIVS
60 70 80 90 100
KWMLPEKSRG TYLERANCFP PPVFIISISL AELAVFIYYA VWKPQKQWIT
110 120 130 140 150
LDTGILESPF IYSPEKREEA WRFISYMLVH AGVQHILGNL CMQLVLGIPL
160 170 180 190 200
EMVHKGLRVG LVYLAGVIAG SLASSIFDPL RYLVGASGGV YALMGGYFMN
210 220 230 240 250
VLVNFQEMIP AFGIFRLLII ILIIVLDMGF ALYRRFFVPE DGSPVSFAAH
260 270 280 290 300
IAGGFAGMSI GYTVFSCFDK ALLKDPRFWI AIAAYLACVL FAVFFNIFLS

PAN
Length:303
Mass (Da):34,021
Last modified:February 1, 2005 - v2
Checksum:i2B6CB8291319C2D9
GO
Isoform 2 (identifier: Q9NX52-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-303: Missing.

Note: May be due to an intron retention. No experimental confirmation available.
Show »
Length:132
Mass (Da):15,442
Checksum:i38D3DBFBF34BC528
GO

Sequence cautioni

The sequence AAH13103 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91168 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020328273L → M.Corresponds to variant rs2147914dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012692133 – 303Missing in isoform 2. 1 PublicationAdd BLAST171

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY126343 mRNA. Translation: AAM95697.1.
AL139260 Genomic DNA. Translation: CAI23052.1.
BC013103 mRNA. Translation: AAH13103.1. Different initiation.
BC137108 mRNA. Translation: AAI37109.1.
BC137110 mRNA. Translation: AAI37111.1.
AK000442 mRNA. Translation: BAA91168.1. Different initiation.
CCDSiCCDS30680.1. [Q9NX52-1]
RefSeqiNP_060291.2. NM_017821.4. [Q9NX52-1]
UniGeneiHs.524626.

Genome annotation databases

EnsembliENST00000289248; ENSP00000289248; ENSG00000158315. [Q9NX52-1]
ENST00000372990; ENSP00000362081; ENSG00000158315. [Q9NX52-1]
ENST00000540558; ENSP00000441097; ENSG00000158315. [Q9NX52-3]
GeneIDi54933.
KEGGihsa:54933.
UCSCiuc001ccu.1. human. [Q9NX52-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY126343 mRNA. Translation: AAM95697.1.
AL139260 Genomic DNA. Translation: CAI23052.1.
BC013103 mRNA. Translation: AAH13103.1. Different initiation.
BC137108 mRNA. Translation: AAI37109.1.
BC137110 mRNA. Translation: AAI37111.1.
AK000442 mRNA. Translation: BAA91168.1. Different initiation.
CCDSiCCDS30680.1. [Q9NX52-1]
RefSeqiNP_060291.2. NM_017821.4. [Q9NX52-1]
UniGeneiHs.524626.

3D structure databases

ProteinModelPortaliQ9NX52.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120273. 2 interactors.
STRINGi9606.ENSP00000289248.

Protein family/group databases

MEROPSiS54.002.

PTM databases

iPTMnetiQ9NX52.
PhosphoSitePlusiQ9NX52.

Polymorphism and mutation databases

BioMutaiRHBDL2.
DMDMi59800189.

Proteomic databases

MaxQBiQ9NX52.
PaxDbiQ9NX52.
PeptideAtlasiQ9NX52.
PRIDEiQ9NX52.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289248; ENSP00000289248; ENSG00000158315. [Q9NX52-1]
ENST00000372990; ENSP00000362081; ENSG00000158315. [Q9NX52-1]
ENST00000540558; ENSP00000441097; ENSG00000158315. [Q9NX52-3]
GeneIDi54933.
KEGGihsa:54933.
UCSCiuc001ccu.1. human. [Q9NX52-1]

Organism-specific databases

CTDi54933.
DisGeNETi54933.
GeneCardsiRHBDL2.
HGNCiHGNC:16083. RHBDL2.
HPAiHPA043807.
MIMi608962. gene.
neXtProtiNX_Q9NX52.
OpenTargetsiENSG00000158315.
PharmGKBiPA34383.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2289. Eukaryota.
COG0705. LUCA.
GeneTreeiENSGT00390000005726.
HOGENOMiHOG000231407.
HOVERGENiHBG105855.
InParanoidiQ9NX52.
KOiK02857.
OMAiWMLPEKV.
OrthoDBiEOG091G12OK.
PhylomeDBiQ9NX52.
TreeFamiTF313540.

Enzyme and pathway databases

BioCyciZFISH:HS08280-MONOMER.
BRENDAi3.4.21.105. 2681.

Miscellaneous databases

ChiTaRSiRHBDL2. human.
GenomeRNAii54933.
PROiQ9NX52.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158315.
CleanExiHS_RHBDL2.
GenevisibleiQ9NX52. HS.

Family and domain databases

Gene3Di1.20.1540.10. 1 hit.
InterProiIPR002610. Peptidase_S54_rhomboid.
IPR022764. Peptidase_S54_rhomboid_dom.
IPR017213. Peptidase_S54_rhomboid_met.
[Graphical view]
PANTHERiPTHR22936. PTHR22936. 1 hit.
PfamiPF01694. Rhomboid. 1 hit.
[Graphical view]
PIRSFiPIRSF037470. Rhomboid. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRHBL2_HUMAN
AccessioniPrimary (citable) accession number: Q9NX52
Secondary accession number(s): B2RNT3
, B9EH75, Q6P175, Q8NER8, Q96E02
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 5, 2002
Last sequence update: February 1, 2005
Last modified: November 2, 2016
This is version 132 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.