UniProtKB - Q6PJF5 (RHDF2_HUMAN)
Protein
Inactive rhomboid protein 2
Gene
RHBDF2
Organism
Homo sapiens (Human)
Status
Functioni
Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own.By similarity
GO - Molecular functioni
- growth factor binding Source: UniProtKB-KW
GO - Biological processi
- negative regulation of protein secretion Source: UniProtKB
- protein transport Source: UniProtKB-KW
- proteolysis Source: GOC
- regulation of epidermal growth factor receptor signaling pathway Source: GO_Central
- regulation of protein secretion Source: GO_Central
Keywordsi
Molecular function | Growth factor binding |
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q6PJF5 |
Reactomei | R-HSA-9662834, CD163 mediating an anti-inflammatory response |
Protein family/group databases
MEROPSi | S54.953 |
Names & Taxonomyi
Protein namesi | Recommended name: Inactive rhomboid protein 2Short name: iRhom2 Alternative name(s): Rhomboid 5 homolog 2 Rhomboid family member 2 Rhomboid veinlet-like protein 5 Rhomboid veinlet-like protein 6 |
Gene namesi | Name:RHBDF2 Synonyms:IRHOM2, RHBDL5, RHBDL6 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20788, RHBDF2 |
MIMi | 614404, gene |
neXtProti | NX_Q6PJF5 |
VEuPathDBi | HostDB:ENSG00000129667.12 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity
Plasma membrane
- Cell membrane 2 Publications
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 409 | CytoplasmicSequence analysisAdd BLAST | 409 | |
Transmembranei | 410 – 430 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 431 – 660 | LumenalSequence analysisAdd BLAST | 230 | |
Transmembranei | 661 – 681 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 682 – 692 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 693 – 713 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 714 – 715 | LumenalSequence analysis | 2 | |
Transmembranei | 716 – 736 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 737 – 747 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 748 – 768 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 769 – 773 | LumenalSequence analysis | 5 | |
Transmembranei | 774 – 794 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 795 – 802 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 803 – 823 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 824 – 856 | LumenalSequence analysisAdd BLAST | 33 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Tylosis with esophageal cancer (TOC)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067827 | 186 | I → T in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907129EnsemblClinVar. | 1 | |
Natural variantiVAR_067828 | 189 | P → L in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907130EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 79651 |
MalaCardsi | RHBDF2 |
MIMi | 148500, phenotype |
OpenTargetsi | ENSG00000129667 |
Orphaneti | 2198, Palmoplantar keratoderma-esophageal carcinoma syndrome |
PharmGKBi | PA134980674 |
Miscellaneous databases
Pharosi | Q6PJF5, Tbio |
Genetic variation databases
BioMutai | RHBDF2 |
DMDMi | 193806488 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000341938 | 1 – 856 | Inactive rhomboid protein 2Add BLAST | 856 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 90 | PhosphoserineCombined sources | 1 | |
Modified residuei | 113 | PhosphoserineCombined sources | 1 | |
Modified residuei | 117 | PhosphoserineBy similarity | 1 | |
Modified residuei | 323 | PhosphoserineBy similarity | 1 | |
Modified residuei | 325 | PhosphoserineCombined sources | 1 | |
Modified residuei | 328 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q6PJF5 |
jPOSTi | Q6PJF5 |
MassIVEi | Q6PJF5 |
MaxQBi | Q6PJF5 |
PaxDbi | Q6PJF5 |
PeptideAtlasi | Q6PJF5 |
PRIDEi | Q6PJF5 |
ProteomicsDBi | 67199 [Q6PJF5-1] 67200 [Q6PJF5-2] |
PTM databases
GlyGeni | Q6PJF5, 1 site |
iPTMneti | Q6PJF5 |
PhosphoSitePlusi | Q6PJF5 |
Expressioni
Tissue specificityi
Found in the epidermis and esophageal epithelium.1 Publication
Gene expression databases
Bgeei | ENSG00000129667, Expressed in granulocyte and 206 other tissues |
ExpressionAtlasi | Q6PJF5, baseline and differential |
Genevisiblei | Q6PJF5, HS |
Organism-specific databases
HPAi | ENSG00000129667, Low tissue specificity |
Interactioni
Subunit structurei
GO - Molecular functioni
- growth factor binding Source: UniProtKB-KW
Protein-protein interaction databases
BioGRIDi | 122779, 127 interactors |
ELMi | Q6PJF5 |
IntActi | Q6PJF5, 11 interactors |
STRINGi | 9606.ENSP00000322775 |
Miscellaneous databases
RNActi | Q6PJF5, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 191 – 271 | Involved in interaction with FRMD81 PublicationAdd BLAST | 81 |
Sequence similaritiesi
Belongs to the peptidase S54 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2290, Eukaryota |
GeneTreei | ENSGT00940000159027 |
HOGENOMi | CLU_011531_1_1_1 |
InParanoidi | Q6PJF5 |
OMAi | WKAFFNL |
OrthoDBi | 1253228at2759 |
PhylomeDBi | Q6PJF5 |
TreeFami | TF312988 |
Family and domain databases
Gene3Di | 1.20.1540.10, 1 hit |
InterProi | View protein in InterPro IPR022764, Peptidase_S54_rhomboid_dom IPR035952, Rhomboid-like_sf IPR022241, Rhomboid_SP |
Pfami | View protein in Pfam PF01694, Rhomboid, 1 hit PF12595, Rhomboid_SP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6PJF5-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MASADKNGGS VSSVSSSRLQ SRKPPNLSIT IPPPEKETQA PGEQDSMLPE
60 70 80 90 100
GFQNRRLKKS QPRTWAAHTT ACPPSFLPKR KNPAYLKSVS LQEPRSRWQE
110 120 130 140 150
SSEKRPGFRR QASLSQSIRK GAAQWFGVSG DWEGQRQQWQ RRSLHHCSMR
160 170 180 190 200
YGRLKASCQR DLELPSQEAP SFQGTESPKP CKMPKIVDPL ARGRAFRHPE
210 220 230 240 250
EMDRPHAPHP PLTPGVLSLT SFTSVRSGYS HLPRRKRMSV AHMSLQAAAA
260 270 280 290 300
LLKGRSVLDA TGQRCRVVKR SFAFPSFLEE DVVDGADTFD SSFFSKEEMS
310 320 330 340 350
SMPDDVFESP PLSASYFRGI PHSASPVSPD GVQIPLKEYG RAPVPGPRRG
360 370 380 390 400
KRIASKVKHF AFDRKKRHYG LGVVGNWLNR SYRRSISSTV QRQLESFDSH
410 420 430 440 450
RPYFTYWLTF VHVIITLLVI CTYGIAPVGF AQHVTTQLVL RNKGVYESVK
460 470 480 490 500
YIQQENFWVG PSSIDLIHLG AKFSPCIRKD GQIEQLVLRE RDLERDSGCC
510 520 530 540 550
VQNDHSGCIQ TQRKDCSETL ATFVKWQDDT GPPMDKSDLG QKRTSGAVCH
560 570 580 590 600
QDPRTCEEPA SSGAHIWPDD ITKWPICTEQ ARSNHTGFLH MDCEIKGRPC
610 620 630 640 650
CIGTKGSCEI TTREYCEFMH GYFHEEATLC SQVHCLDKVC GLLPFLNPEV
660 670 680 690 700
PDQFYRLWLS LFLHAGVVHC LVSVVFQMTI LRDLEKLAGW HRIAIIFILS
710 720 730 740 750
GITGNLASAI FLPYRAEVGP AGSQFGLLAC LFVELFQSWP LLERPWKAFL
760 770 780 790 800
NLSAIVLFLF ICGLLPWIDN IAHIFGFLSG LLLAFAFLPY ITFGTSDKYR
810 820 830 840 850
KRALILVSLL AFAGLFAALV LWLYIYPINW PWIEHLTCFP FTSRFCEKYE
LDQVLH
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EPV3 | K7EPV3_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 185 | Annotation score: | ||
K7EPN8 | K7EPN8_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 86 | Annotation score: | ||
K7EKA3 | K7EKA3_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 73 | Annotation score: | ||
K7EQ53 | K7EQ53_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 89 | Annotation score: | ||
K7EIY3 | K7EIY3_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 74 | Annotation score: | ||
K7EQT5 | K7EQT5_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 47 | Annotation score: | ||
K7EKI1 | K7EKI1_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 112 | Annotation score: | ||
K7EJ10 | K7EJ10_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 28 | Annotation score: | ||
K7ELA9 | K7ELA9_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 26 | Annotation score: | ||
K7EJD6 | K7EJD6_HUMAN | Inactive rhomboid protein 2 | RHBDF2 | 13 | Annotation score: |
Sequence cautioni
The sequence AAH35829 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB15310 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 67 | A → S in BAF84824 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 67 | A → S in AAH16034 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 705 | N → D in BAF84855 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 852 | D → G in BAF84855 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067827 | 186 | I → T in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907129EnsemblClinVar. | 1 | |
Natural variantiVAR_067828 | 189 | P → L in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907130EnsemblClinVar. | 1 | |
Natural variantiVAR_044125 | 208 | P → L3 PublicationsCorresponds to variant dbSNP:rs3744045EnsemblClinVar. | 1 | |
Natural variantiVAR_044126 | 249 | A → T. Corresponds to variant dbSNP:rs34814954EnsemblClinVar. | 1 | |
Natural variantiVAR_044127 | 528 | D → Y. Corresponds to variant dbSNP:rs11553545EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_034368 | 51 – 79 | Missing in isoform 2. 2 PublicationsAdd BLAST | 29 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY500247 mRNA Translation: AAS77567.1 AK025994 mRNA Translation: BAB15310.1 Different initiation. AK292135 mRNA Translation: BAF84824.1 AK292166 mRNA Translation: BAF84855.1 AC015802 Genomic DNA No translation available. BC035829 mRNA Translation: AAH35829.1 Different initiation. BC016034 mRNA Translation: AAH16034.2 |
CCDSi | CCDS32743.1 [Q6PJF5-1] CCDS32744.1 [Q6PJF5-2] |
RefSeqi | NP_001005498.2, NM_001005498.3 [Q6PJF5-2] NP_078875.4, NM_024599.5 [Q6PJF5-1] XP_005257726.1, XM_005257669.3 [Q6PJF5-1] XP_005257727.1, XM_005257670.1 XP_011523551.1, XM_011525249.2 [Q6PJF5-2] XP_011523552.1, XM_011525250.2 [Q6PJF5-2] XP_011523553.1, XM_011525251.2 [Q6PJF5-2] XP_016880568.1, XM_017025079.1 |
Genome annotation databases
Ensembli | ENST00000313080; ENSP00000322775; ENSG00000129667 [Q6PJF5-1] ENST00000591885; ENSP00000466867; ENSG00000129667 [Q6PJF5-2] ENST00000675367; ENSP00000501790; ENSG00000129667 [Q6PJF5-2] |
GeneIDi | 79651 |
KEGGi | hsa:79651 |
UCSCi | uc002jrq.3, human [Q6PJF5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY500247 mRNA Translation: AAS77567.1 AK025994 mRNA Translation: BAB15310.1 Different initiation. AK292135 mRNA Translation: BAF84824.1 AK292166 mRNA Translation: BAF84855.1 AC015802 Genomic DNA No translation available. BC035829 mRNA Translation: AAH35829.1 Different initiation. BC016034 mRNA Translation: AAH16034.2 |
CCDSi | CCDS32743.1 [Q6PJF5-1] CCDS32744.1 [Q6PJF5-2] |
RefSeqi | NP_001005498.2, NM_001005498.3 [Q6PJF5-2] NP_078875.4, NM_024599.5 [Q6PJF5-1] XP_005257726.1, XM_005257669.3 [Q6PJF5-1] XP_005257727.1, XM_005257670.1 XP_011523551.1, XM_011525249.2 [Q6PJF5-2] XP_011523552.1, XM_011525250.2 [Q6PJF5-2] XP_011523553.1, XM_011525251.2 [Q6PJF5-2] XP_016880568.1, XM_017025079.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 122779, 127 interactors |
ELMi | Q6PJF5 |
IntActi | Q6PJF5, 11 interactors |
STRINGi | 9606.ENSP00000322775 |
Protein family/group databases
MEROPSi | S54.953 |
PTM databases
GlyGeni | Q6PJF5, 1 site |
iPTMneti | Q6PJF5 |
PhosphoSitePlusi | Q6PJF5 |
Genetic variation databases
BioMutai | RHBDF2 |
DMDMi | 193806488 |
Proteomic databases
EPDi | Q6PJF5 |
jPOSTi | Q6PJF5 |
MassIVEi | Q6PJF5 |
MaxQBi | Q6PJF5 |
PaxDbi | Q6PJF5 |
PeptideAtlasi | Q6PJF5 |
PRIDEi | Q6PJF5 |
ProteomicsDBi | 67199 [Q6PJF5-1] 67200 [Q6PJF5-2] |
Protocols and materials databases
Antibodypediai | 19692, 64 antibodies |
Genome annotation databases
Ensembli | ENST00000313080; ENSP00000322775; ENSG00000129667 [Q6PJF5-1] ENST00000591885; ENSP00000466867; ENSG00000129667 [Q6PJF5-2] ENST00000675367; ENSP00000501790; ENSG00000129667 [Q6PJF5-2] |
GeneIDi | 79651 |
KEGGi | hsa:79651 |
UCSCi | uc002jrq.3, human [Q6PJF5-1] |
Organism-specific databases
CTDi | 79651 |
DisGeNETi | 79651 |
GeneCardsi | RHBDF2 |
HGNCi | HGNC:20788, RHBDF2 |
HPAi | ENSG00000129667, Low tissue specificity |
MalaCardsi | RHBDF2 |
MIMi | 148500, phenotype 614404, gene |
neXtProti | NX_Q6PJF5 |
OpenTargetsi | ENSG00000129667 |
Orphaneti | 2198, Palmoplantar keratoderma-esophageal carcinoma syndrome |
PharmGKBi | PA134980674 |
VEuPathDBi | HostDB:ENSG00000129667.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2290, Eukaryota |
GeneTreei | ENSGT00940000159027 |
HOGENOMi | CLU_011531_1_1_1 |
InParanoidi | Q6PJF5 |
OMAi | WKAFFNL |
OrthoDBi | 1253228at2759 |
PhylomeDBi | Q6PJF5 |
TreeFami | TF312988 |
Enzyme and pathway databases
PathwayCommonsi | Q6PJF5 |
Reactomei | R-HSA-9662834, CD163 mediating an anti-inflammatory response |
Miscellaneous databases
BioGRID-ORCSi | 79651, 6 hits in 873 CRISPR screens |
ChiTaRSi | RHBDF2, human |
GeneWikii | RHBDF2 |
GenomeRNAii | 79651 |
Pharosi | Q6PJF5, Tbio |
PROi | PR:Q6PJF5 |
RNActi | Q6PJF5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000129667, Expressed in granulocyte and 206 other tissues |
ExpressionAtlasi | Q6PJF5, baseline and differential |
Genevisiblei | Q6PJF5, HS |
Family and domain databases
Gene3Di | 1.20.1540.10, 1 hit |
InterProi | View protein in InterPro IPR022764, Peptidase_S54_rhomboid_dom IPR035952, Rhomboid-like_sf IPR022241, Rhomboid_SP |
Pfami | View protein in Pfam PF01694, Rhomboid, 1 hit PF12595, Rhomboid_SP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RHDF2_HUMAN | |
Accessioni | Q6PJF5Primary (citable) accession number: Q6PJF5 Secondary accession number(s): A6NEM3 Q9H6E9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 2008 |
Last sequence update: | July 1, 2008 | |
Last modified: | February 10, 2021 | |
This is version 138 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Peptidase families
Classification of peptidase families and list of entries