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Protein

Rhomboid-related protein 1

Gene

RHBDL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.By similarity

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei312NucleophileBy similarity1
Active sitei377By similarity1

GO - Molecular functioni

GO - Biological processi

  • protein processing Source: GO_Central
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Protein family/group databases

MEROPSiS54.005

Names & Taxonomyi

Protein namesi
Recommended name:
Rhomboid-related protein 1 (EC:3.4.21.105)
Short name:
RRP
Alternative name(s):
Rhomboid-like protein 1
Gene namesi
Name:RHBDL1
Synonyms:RHBDL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103269.13
HGNCiHGNC:10007 RHBDL1
MIMi603264 gene
neXtProtiNX_O75783

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Transmembranei262 – 282HelicalSequence analysisAdd BLAST21
Transmembranei284 – 304HelicalSequence analysisAdd BLAST21
Transmembranei308 – 328HelicalSequence analysisAdd BLAST21
Transmembranei340 – 359HelicalSequence analysisAdd BLAST20
Transmembranei372 – 392HelicalSequence analysisAdd BLAST21
Transmembranei405 – 425HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000103269
PharmGKBiPA34382

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002061731 – 438Rhomboid-related protein 1Add BLAST438

Proteomic databases

PaxDbiO75783
PeptideAtlasiO75783
PRIDEiO75783
ProteomicsDBi50193
50194 [O75783-2]

PTM databases

iPTMnetiO75783
PhosphoSitePlusiO75783

Expressioni

Tissue specificityi

Detected in heart, brain, skeletal muscle and kidney.

Gene expression databases

BgeeiENSG00000103269
CleanExiHS_RHBDL1
ExpressionAtlasiO75783 baseline and differential
GenevisibleiO75783 HS

Organism-specific databases

HPAiHPA030359
HPA030360
HPA046593

Interactioni

Protein-protein interaction databases

BioGridi114495, 5 interactors
IntActiO75783, 11 interactors
STRINGi9606.ENSP00000219551

Structurei

3D structure databases

ProteinModelPortaliO75783
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase S54 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2289 Eukaryota
COG0705 LUCA
GeneTreeiENSGT00390000005726
HOGENOMiHOG000231407
HOVERGENiHBG059476
InParanoidiO75783
KOiK02857
OMAiWNIFAYE
OrthoDBiEOG091G12OK
PhylomeDBiO75783
TreeFamiTF313540

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002610 Peptidase_S54_rhomboid
IPR022764 Peptidase_S54_rhomboid_dom
IPR017213 Peptidase_S54_rhomboid_met
IPR035952 Rhomboid-like_sf
PANTHERiPTHR22936 PTHR22936, 1 hit
PfamiView protein in Pfam
PF01694 Rhomboid, 1 hit
PIRSFiPIRSF037470 Rhomboid, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: O75783-1) [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
MGRVEDGGTT EELEDWDPGT SALPAPGIKQ GPREQTGTGP LSQKCWEPEP
60 70 80 90 100
DAPSQPGPAL WSRGRARTQA LAGGSSLQQL DPENTGFIGA DTFTGLVHSH
110 120 130 140 150
ELPLDPAKLD MLVALAQSNE QGQVCYQELV DLISSKRSSS FKRAIANGQR
160 170 180 190 200
ALPRDGPLDE PGLGVYKRFV RYVAYEILPC EVDRRWYFYR HRSCPPPVFM
210 220 230 240 250
ASVTLAQIIV FLCYGARLNK WVLQTYHPEY MKSPLVYHPG HRARAWRFLT
260 270 280 290 300
YMFMHVGLEQ LGFNALLQLM IGVPLEMVHG LLRISLLYLA GVLAGSLTVS
310 320 330 340 350
ITDMRAPVVG GSGGVYALCS AHLANVVMNW AGMRCPYKLL RMVLALVCMS
360 370 380 390 400
SEVGRAVWLR FSPPLPASGP QPSFMAHLAG AVVGVSMGLT ILRSYEERLR
410 420 430
DQCGWWVVLL AYGTFLLFAV FWNVFAYDLL GAHIPPPP
Length:438
Mass (Da):48,314
Last modified:November 1, 1998 - v1
Checksum:iA7644AD39644A2F6
GO
Isoform 2 (identifier: O75783-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: MGRVEDGGTT...TQALAGGSSL → MDRSSLLQLIQE

Show »
Length:373
Mass (Da):41,720
Checksum:i76FABE6144B0F1A0
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0053721 – 77MGRVE…GGSSL → MDRSSLLQLIQE in isoform 2. 1 PublicationAdd BLAST77

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y17108 mRNA Translation: CAA76629.1
AJ272344 mRNA Translation: CAC00640.1
AE006464 Genomic DNA Translation: AAK61241.1
Z92544 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85760.1
BC120874 mRNA Translation: AAI20875.1
BC120875 mRNA Translation: AAI20876.1
CCDSiCCDS61779.1 [O75783-2]
RefSeqiNP_001265649.1, NM_001278720.1 [O75783-2]
NP_001265650.1, NM_001278721.1
NP_001305662.1, NM_001318733.1 [O75783-1]
UniGeneiHs.137572

Genome annotation databases

EnsembliENST00000219551; ENSP00000219551; ENSG00000103269 [O75783-1]
ENST00000352681; ENSP00000344206; ENSG00000103269 [O75783-2]
GeneIDi9028
KEGGihsa:9028
UCSCiuc002cir.2 human [O75783-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRHBL1_HUMAN
AccessioniPrimary (citable) accession number: O75783
Secondary accession number(s): A2IDC0
, A2IDC1, Q0VAX4, Q9NQ85
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 5, 2002
Last sequence update: November 1, 1998
Last modified: June 20, 2018
This is version 147 of the entry and version 1 of the sequence. See 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. SIMILARITY comments
    Index of protein domains and families

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