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Protein

Rhomboid-related protein 3

Gene

RHBDL3

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 sitei278NucleophileBy similarity1
Active sitei343By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Protein family/group databases

MEROPSiS54.006

Names & Taxonomyi

Protein namesi
Recommended name:
Rhomboid-related protein 3 (EC:3.4.21.105)
Alternative name(s):
Ventrhoid transmembrane protein
Gene namesi
Name:RHBDL3
Synonyms:RHBDL4, VRHO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141314.12
HGNCiHGNC:16502 RHBDL3
neXtProtiNX_P58872

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Transmembranei218 – 238HelicalSequence analysisAdd BLAST21
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Transmembranei274 – 294HelicalSequence analysisAdd BLAST21
Transmembranei303 – 325HelicalSequence analysisAdd BLAST23
Transmembranei338 – 358HelicalSequence analysisAdd BLAST21
Transmembranei371 – 391HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000141314
PharmGKBiPA34384

Polymorphism and mutation databases

BioMutaiRHBDL3
DMDMi21542300

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002061771 – 404Rhomboid-related protein 3Add BLAST404

Proteomic databases

PaxDbiP58872
PeptideAtlasiP58872
PRIDEiP58872

PTM databases

iPTMnetiP58872
PhosphoSitePlusiP58872

Expressioni

Gene expression databases

BgeeiENSG00000141314
CleanExiHS_RHBDL3
ExpressionAtlasiP58872 baseline and differential
GenevisibleiP58872 HS

Organism-specific databases

HPAiHPA059607

Interactioni

Protein-protein interaction databases

BioGridi127820, 4 interactors
STRINGi9606.ENSP00000269051

Structurei

3D structure databases

ProteinModelPortaliP58872
SMRiP58872
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 69EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini70 – 105EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Sequence similaritiesi

Belongs to the peptidase S54 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
KOG2289 Eukaryota
COG0705 LUCA
GeneTreeiENSGT00390000005726
HOGENOMiHOG000231407
HOVERGENiHBG059476
InParanoidiP58872
KOiK02857
OMAiWNIFAYS
PhylomeDBiP58872
TreeFamiTF313540

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
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
PF13499 EF-hand_7, 1 hit
PF01694 Rhomboid, 1 hit
PIRSFiPIRSF037470 Rhomboid, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 2 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P58872-1) [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
MGEHPSPGPA VAACAEAERI EELEPEAEER LPAAPEDHWK VLFDQFDPGN
60 70 80 90 100
TGYISTGKFR SLLESHSSKL DPHKREVLLA LADSHADGQI GYQDFVSLMS
110 120 130 140 150
NKRSNSFRQA ILQGNRRLSS KALLEEKGLS LSQRLIRHVA YETLPREIDR
160 170 180 190 200
KWYYDSYTCC PPPWFMITVT LLEVAFFLYN GVSLGQFVLQ VTHPRYLKNS
210 220 230 240 250
LVYHPQLRAQ VWRYLTYIFM HAGIEHLGLN VVLQLLVGVP LEMVHGATRI
260 270 280 290 300
GLVYVAGVVA GSLAVSVADM TAPVVGSSGG VYALVSAHLA NIVMNWSGMK
310 320 330 340 350
CQFKLLRMAV ALICMSMEFG RAVWLRFHPS AYPPCPHPSF VAHLGGVAVG
360 370 380 390 400
ITLGVVVLRN YEQRLQDQSL WWIFVAMYTV FVLFAVFWNI FAYTLLDLKL

PPPP
Length:404
Mass (Da):45,245
Last modified:June 20, 2002 - v1
Checksum:iBAE7319D4E2AB5AC
GO
Isoform 2 (identifier: P58872-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: Missing.

Show »
Length:306
Mass (Da):34,508
Checksum:iE5028E6A2C6EB39F
GO
Isoform 3 (identifier: P58872-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     38-45: Missing.

Note: No experimental confirmation available.
Show »
Length:396
Mass (Da):44,190
Checksum:iC3F67FDA333F9B38
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024593255V → M. Corresponds to variant dbSNP:rs4795690Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0562591 – 98Missing in isoform 2. 2 PublicationsAdd BLAST98
Alternative sequenceiVSP_05626038 – 45Missing in isoform 3. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ313480 mRNA Translation: CAC86145.1
AK124570 mRNA Translation: BAG54052.1
AC005899 Genomic DNA No translation available.
AC026620 Genomic DNA No translation available.
BC100975 mRNA Translation: AAI00976.1
BC100977 mRNA Translation: AAI00978.1
BC100978 mRNA Translation: AAI00979.1
CCDSiCCDS32613.1 [P58872-1]
CCDS82103.1 [P58872-3]
RefSeqiNP_001317110.1, NM_001330181.1 [P58872-3]
NP_612201.1, NM_138328.2 [P58872-1]
XP_016879768.1, XM_017024279.1 [P58872-2]
UniGeneiHs.655027

Genome annotation databases

EnsembliENST00000269051; ENSP00000269051; ENSG00000141314 [P58872-1]
ENST00000536287; ENSP00000466508; ENSG00000141314 [P58872-2]
ENST00000538145; ENSP00000442092; ENSG00000141314 [P58872-3]
GeneIDi162494
KEGGihsa:162494
UCSCiuc002hhe.1 human [P58872-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRHBL3_HUMAN
AccessioniPrimary (citable) accession number: P58872
Secondary accession number(s): A6NMH1
, Q495Y4, Q495Y5, Q495Y6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: June 20, 2002
Last modified: March 28, 2018
This is version 138 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

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