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Protein

Rhomboid-related protein 1

Gene

RHBDL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei312 – 3121NucleophileBy similarity
Active sitei377 – 3771By similarity

GO - Molecular functioni

GO - Biological processi

  • protein processing Source: GO_Central
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, 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

HGNCiHGNC:10007. RHBDL1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei196 – 21621HelicalSequence analysisAdd
BLAST
Transmembranei262 – 28221HelicalSequence analysisAdd
BLAST
Transmembranei284 – 30421HelicalSequence analysisAdd
BLAST
Transmembranei308 – 32821HelicalSequence analysisAdd
BLAST
Transmembranei340 – 35920HelicalSequence analysisAdd
BLAST
Transmembranei372 – 39221HelicalSequence analysisAdd
BLAST
Transmembranei405 – 42521HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34382.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 438438Rhomboid-related protein 1PRO_0000206173Add
BLAST

Proteomic databases

PaxDbiO75783.
PeptideAtlasiO75783.
PRIDEiO75783.

PTM databases

iPTMnetiO75783.
PhosphoSiteiO75783.

Expressioni

Tissue specificityi

Detected in heart, brain, skeletal muscle and kidney.

Gene expression databases

BgeeiO75783.
CleanExiHS_RHBDL1.
ExpressionAtlasiO75783. baseline and differential.
GenevisibleiO75783. HS.

Organism-specific databases

HPAiHPA030359.
HPA030360.
HPA046593.

Interactioni

Protein-protein interaction databases

BioGridi114495. 5 interactions.
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.
OMAiQCSWWVI.
OrthoDBiEOG7S21XW.
PhylomeDBiO75783.
TreeFamiTF313540.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.20.1540.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002610. Peptidase_S54_rhomboid.
IPR022764. Peptidase_S54_rhomboid_dom.
[Graphical view]
PANTHERiPTHR22936. PTHR22936. 1 hit.
PfamiPF01694. Rhomboid. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7777MGRVE…GGSSL → MDRSSLLQLIQE in isoform 2. 1 PublicationVSP_005372Add
BLAST

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. Translation: CAM26349.1.
Z92544 Genomic DNA. Translation: CAM26350.1.
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

Cross-referencesi

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. Translation: CAM26349.1.
Z92544 Genomic DNA. Translation: CAM26350.1.
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.

3D structure databases

ProteinModelPortaliO75783.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114495. 5 interactions.
STRINGi9606.ENSP00000219551.

Protein family/group databases

MEROPSiS54.005.

PTM databases

iPTMnetiO75783.
PhosphoSiteiO75783.

Proteomic databases

PaxDbiO75783.
PeptideAtlasiO75783.
PRIDEiO75783.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9028.
GeneCardsiRHBDL1.
HGNCiHGNC:10007. RHBDL1.
HPAiHPA030359.
HPA030360.
HPA046593.
MIMi603264. gene.
neXtProtiNX_O75783.
PharmGKBiPA34382.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2289. Eukaryota.
COG0705. LUCA.
GeneTreeiENSGT00390000005726.
HOGENOMiHOG000231407.
HOVERGENiHBG059476.
InParanoidiO75783.
KOiK02857.
OMAiQCSWWVI.
OrthoDBiEOG7S21XW.
PhylomeDBiO75783.
TreeFamiTF313540.

Miscellaneous databases

GenomeRNAii9028.
PROiO75783.
SOURCEiSearch...

Gene expression databases

BgeeiO75783.
CleanExiHS_RHBDL1.
ExpressionAtlasiO75783. baseline and differential.
GenevisibleiO75783. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.20.1540.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002610. Peptidase_S54_rhomboid.
IPR022764. Peptidase_S54_rhomboid_dom.
[Graphical view]
PANTHERiPTHR22936. PTHR22936. 1 hit.
PfamiPF01694. Rhomboid. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of a mammalian cDNA encoding a protein with high sequence similarity to the Drosophila regulatory protein Rhomboid."
    Pascall J.C., Brown K.D.
    FEBS Lett. 429:337-340(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Leukemia.
  2. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
    Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
    Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).

Entry informationi

Entry nameiRHBL1_HUMAN
AccessioniPrimary (citable) accession number: O75783
Secondary accession number(s): A2IDC0
, A2IDC1, Q0VAX4, Q9NQ85
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 5, 2002
Last sequence update: November 1, 1998
Last modified: July 6, 2016
This is version 133 of the entry and version 1 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 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

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.