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Protein

Rhomboid domain-containing protein 3

Gene

RHBDD3

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

Functioni

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Rhomboid domain-containing protein 3
Gene namesi
Name:RHBDD3
Synonyms:C22orf3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100263.13
HGNCiHGNC:1308 RHBDD3
neXtProtiNX_Q9Y3P4

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei20 – 40HelicalSequence analysisAdd BLAST21
Transmembranei58 – 78HelicalSequence analysisAdd BLAST21
Transmembranei92 – 112HelicalSequence analysisAdd BLAST21
Transmembranei141 – 161HelicalSequence analysisAdd BLAST21
Transmembranei163 – 183HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi25807
OpenTargetsiENSG00000100263
PharmGKBiPA25887

Polymorphism and mutation databases

BioMutaiRHBDD3
DMDMi20177875

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000795691 – 386Rhomboid domain-containing protein 3Add BLAST386

Proteomic databases

EPDiQ9Y3P4
MaxQBiQ9Y3P4
PaxDbiQ9Y3P4
PeptideAtlasiQ9Y3P4
PRIDEiQ9Y3P4
ProteomicsDBi86052
TopDownProteomicsiQ9Y3P4

PTM databases

iPTMnetiQ9Y3P4
PhosphoSitePlusiQ9Y3P4

Expressioni

Gene expression databases

BgeeiENSG00000100263
CleanExiHS_RHBDD3
ExpressionAtlasiQ9Y3P4 baseline and differential
GenevisibleiQ9Y3P4 HS

Organism-specific databases

HPAiHPA043979

Interactioni

Protein-protein interaction databases

BioGridi117339, 20 interactors
IntActiQ9Y3P4, 1 interactor
STRINGi9606.ENSP00000216085

Structurei

3D structure databases

ProteinModelPortaliQ9Y3P4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini324 – 362UBAAdd BLAST39

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2632 Eukaryota
ENOG41100KJ LUCA
GeneTreeiENSGT00390000013711
HOGENOMiHOG000286033
HOVERGENiHBG079911
InParanoidiQ9Y3P4
OMAiGCGYMPV
OrthoDBiEOG091G0BL7
PhylomeDBiQ9Y3P4
TreeFamiTF332785

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR022764 Peptidase_S54_rhomboid_dom
IPR035952 Rhomboid-like_sf
IPR015940 UBA
IPR009060 UBA-like_sf
PfamiView protein in Pfam
PF01694 Rhomboid, 1 hit
PF00627 UBA, 1 hit
SUPFAMiSSF46934 SSF46934, 1 hit

Sequencei

Sequence statusi: Complete.

Q9Y3P4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHARGPHGQL SPALPLASSV LMLLMSTLWL VGAGPGLVLA PELLLDPWQV
60 70 80 90 100
HRLLTHALGH TALPGLLLSL LLLPTVGWQQ ECHLGTLRFL HASALLALAS
110 120 130 140 150
GLLAVLLAGL GLSSAAGSCG YMPVHLAMLA GEGHRPRRPR GALPPWLSPW
160 170 180 190 200
LLLALTPLLS SEPPFLQLLC GLLAGLAYAA GAFRWLEPSE RRLQVLQEGV
210 220 230 240 250
LCRTLAGCWP LRLLATPGSL AELPVTHPAG VRPPIPGPPY VASPDLWSHW
260 270 280 290 300
EDSALPPPSL RPVQPTWEGS SEAGLDWAGA SFSPGTPMWA ALDEQMLQEG
310 320 330 340 350
IQASLLDGPA QEPQSAPWLS KSSVSSLRLQ QLERMGFPTE QAVVALAATG
360 370 380
RVEGAVSLLV GGQVGTETLV THGKGGPAHS EGPGPP
Length:386
Mass (Da):40,484
Last modified:November 1, 1999 - v1
Checksum:i48412BA5A9DD5C6B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02195286T → M. Corresponds to variant dbSNP:rs2272902Ensembl.1
Natural variantiVAR_051582227H → R. Corresponds to variant dbSNP:rs2231397Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL050346 mRNA Translation: CAB43551.1
CR457382 mRNA Translation: CAG33663.1
CR456411 mRNA Translation: CAG30297.1
AL031186 Genomic DNA No translation available.
BC002705 mRNA Translation: AAH02705.1
CCDSiCCDS13850.1
RefSeqiNP_001316465.1, NM_001329536.1
NP_036397.1, NM_012265.2
UniGeneiHs.106730

Genome annotation databases

EnsembliENST00000216085; ENSP00000216085; ENSG00000100263
GeneIDi25807
KEGGihsa:25807
UCSCiuc003aeq.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRHBD3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3P4
Secondary accession number(s): Q6I9X3, Q9UGQ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: November 1, 1999
Last modified: June 20, 2018
This is version 137 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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