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UniProtKB - Q6PJF5 (RHDF2_HUMAN)

Protein

Inactive rhomboid protein 2

Gene

RHBDF2

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

Functioni

Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity).By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGrowth factor binding
Biological processProtein transport, Transport

Protein family/group databases

MEROPSiS54.953

Names & Taxonomyi

Protein namesi
Recommended name:
Inactive rhomboid protein 2
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000129667.12
HGNCiHGNC:20788 RHBDF2
MIMi614404 gene
neXtProtiNX_Q6PJF5

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
Topological domaini1 – 409CytoplasmicSequence analysisAdd BLAST409
Transmembranei410 – 430HelicalSequence analysisAdd BLAST21
Topological domaini431 – 660LumenalSequence analysisAdd BLAST230
Transmembranei661 – 681HelicalSequence analysisAdd BLAST21
Topological domaini682 – 692CytoplasmicSequence analysisAdd BLAST11
Transmembranei693 – 713HelicalSequence analysisAdd BLAST21
Topological domaini714 – 715LumenalSequence analysis2
Transmembranei716 – 736HelicalSequence analysisAdd BLAST21
Topological domaini737 – 747CytoplasmicSequence analysisAdd BLAST11
Transmembranei748 – 768HelicalSequence analysisAdd BLAST21
Topological domaini769 – 773LumenalSequence analysis5
Transmembranei774 – 794HelicalSequence analysisAdd BLAST21
Topological domaini795 – 802CytoplasmicSequence analysis8
Transmembranei803 – 823HelicalSequence analysisAdd BLAST21
Topological domaini824 – 856LumenalSequence analysisAdd BLAST33

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Tylosis with esophageal cancer (TOC)1 Publication
The disease is caused by mutations 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.
See also OMIM:148500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067827186I → T in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907129EnsemblClinVar.1
Natural variantiVAR_067828189P → L in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907130EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi79651
MalaCardsiRHBDF2
MIMi148500 phenotype
OpenTargetsiENSG00000129667
Orphaneti2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
PharmGKBiPA134980674

Polymorphism and mutation databases

BioMutaiRHBDF2
DMDMi193806488

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003419381 – 856Inactive rhomboid protein 2Add BLAST856

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei90PhosphoserineCombined sources1
Modified residuei113PhosphoserineCombined sources1
Modified residuei117PhosphoserineBy similarity1
Modified residuei323PhosphoserineBy similarity1
Modified residuei325PhosphoserineCombined sources1
Modified residuei328PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6PJF5
MaxQBiQ6PJF5
PaxDbiQ6PJF5
PeptideAtlasiQ6PJF5
PRIDEiQ6PJF5
ProteomicsDBi67199
67200 [Q6PJF5-2]

PTM databases

iPTMnetiQ6PJF5
PhosphoSitePlusiQ6PJF5

Expressioni

Tissue specificityi

Found in the epidermis and esophageal epithelium.1 Publication

Gene expression databases

BgeeiENSG00000129667 Expressed in 193 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_RHBDF2
ExpressionAtlasiQ6PJF5 baseline and differential
GenevisibleiQ6PJF5 HS

Organism-specific databases

HPAiHPA018080

Interactioni

Subunit structurei

Interacts with EGF.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi122779, 11 interactors
ELMiQ6PJF5
STRINGi9606.ENSP00000322775

Structurei

3D structure databases

ProteinModelPortaliQ6PJF5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase S54 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2290 Eukaryota
COG0705 LUCA
GeneTreeiENSGT00390000012532
HOGENOMiHOG000154118
HOVERGENiHBG059673
InParanoidiQ6PJF5
OMAiQEVPSFQ
OrthoDBiEOG091G021G
PhylomeDBiQ6PJF5
TreeFamiTF312988

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR002610 Peptidase_S54_rhomboid
IPR022764 Peptidase_S54_rhomboid_dom
IPR035952 Rhomboid-like_sf
IPR022241 Rhomboid_SP
PANTHERiPTHR22936 PTHR22936, 1 hit
PfamiView protein in Pfam
PF01694 Rhomboid, 1 hit
PF12595 Rhomboid_SP, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This 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 '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
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
Length:856
Mass (Da):96,686
Last modified:July 1, 2008 - v2
Checksum:i69C40A21EBDBDDC0
GO
Isoform 2 (identifier: Q6PJF5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     51-79: Missing.

Show »
Length:827
Mass (Da):93,379
Checksum:iEEE77126D9D48F86
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EPN8K7EPN8_HUMAN
Rhomboid-like protein
RHBDF2
86Annotation score:
K7EIY3K7EIY3_HUMAN
Rhomboid-like protein
RHBDF2
74Annotation score:
K7EKA3K7EKA3_HUMAN
Rhomboid-like protein
RHBDF2
73Annotation score:
K7EKI1K7EKI1_HUMAN
Rhomboid-like protein
RHBDF2
112Annotation score:
K7EQT5K7EQT5_HUMAN
Rhomboid-like protein
RHBDF2
47Annotation score:
K7EQ53K7EQ53_HUMAN
Rhomboid-like protein
RHBDF2
89Annotation score:
K7EPV3K7EPV3_HUMAN
Inactive rhomboid protein
RHBDF2
185Annotation score:
K7EJ10K7EJ10_HUMAN
Inactive rhomboid protein 2
RHBDF2
28Annotation score:
K7ELA9K7ELA9_HUMAN
Inactive rhomboid protein 2
RHBDF2
26Annotation score:
K7EJD6K7EJD6_HUMAN
Inactive rhomboid protein 2
RHBDF2
13Annotation score:

Sequence cautioni

The sequence AAH35829 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB15310 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti67A → S in BAF84824 (PubMed:14702039).Curated1
Sequence conflicti67A → S in AAH16034 (PubMed:15489334).Curated1
Sequence conflicti705N → D in BAF84855 (PubMed:14702039).Curated1
Sequence conflicti852D → G in BAF84855 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067827186I → T in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907129EnsemblClinVar.1
Natural variantiVAR_067828189P → L in TOC. 1 PublicationCorresponds to variant dbSNP:rs387907130EnsemblClinVar.1
Natural variantiVAR_044125208P → L3 PublicationsCorresponds to variant dbSNP:rs3744045EnsemblClinVar.1
Natural variantiVAR_044126249A → T. Corresponds to variant dbSNP:rs34814954EnsemblClinVar.1
Natural variantiVAR_044127528D → Y. Corresponds to variant dbSNP:rs11553545EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03436851 – 79Missing in isoform 2. 2 PublicationsAdd BLAST29

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
CCDSiCCDS32743.1 [Q6PJF5-1]
CCDS32744.1 [Q6PJF5-2]
RefSeqiNP_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 [Q6PJF5-2]
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 [Q6PJF5-2]
UniGeneiHs.464157

Genome annotation databases

EnsembliENST00000313080; ENSP00000322775; ENSG00000129667 [Q6PJF5-1]
ENST00000591885; ENSP00000466867; ENSG00000129667 [Q6PJF5-2]
GeneIDi79651
KEGGihsa:79651
UCSCiuc002jrq.3 human [Q6PJF5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS32743.1 [Q6PJF5-1]
CCDS32744.1 [Q6PJF5-2]
RefSeqiNP_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 [Q6PJF5-2]
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 [Q6PJF5-2]
UniGeneiHs.464157

3D structure databases

ProteinModelPortaliQ6PJF5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122779, 11 interactors
ELMiQ6PJF5
STRINGi9606.ENSP00000322775

Protein family/group databases

MEROPSiS54.953

PTM databases

iPTMnetiQ6PJF5
PhosphoSitePlusiQ6PJF5

Polymorphism and mutation databases

BioMutaiRHBDF2
DMDMi193806488

Proteomic databases

EPDiQ6PJF5
MaxQBiQ6PJF5
PaxDbiQ6PJF5
PeptideAtlasiQ6PJF5
PRIDEiQ6PJF5
ProteomicsDBi67199
67200 [Q6PJF5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313080; ENSP00000322775; ENSG00000129667 [Q6PJF5-1]
ENST00000591885; ENSP00000466867; ENSG00000129667 [Q6PJF5-2]
GeneIDi79651
KEGGihsa:79651
UCSCiuc002jrq.3 human [Q6PJF5-1]

Organism-specific databases

CTDi79651
DisGeNETi79651
EuPathDBiHostDB:ENSG00000129667.12
GeneCardsiRHBDF2
HGNCiHGNC:20788 RHBDF2
HPAiHPA018080
MalaCardsiRHBDF2
MIMi148500 phenotype
614404 gene
neXtProtiNX_Q6PJF5
OpenTargetsiENSG00000129667
Orphaneti2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
PharmGKBiPA134980674
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2290 Eukaryota
COG0705 LUCA
GeneTreeiENSGT00390000012532
HOGENOMiHOG000154118
HOVERGENiHBG059673
InParanoidiQ6PJF5
OMAiQEVPSFQ
OrthoDBiEOG091G021G
PhylomeDBiQ6PJF5
TreeFamiTF312988

Miscellaneous databases

ChiTaRSiRHBDF2 human
GeneWikiiRHBDF2
GenomeRNAii79651
PROiPR:Q6PJF5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129667 Expressed in 193 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_RHBDF2
ExpressionAtlasiQ6PJF5 baseline and differential
GenevisibleiQ6PJF5 HS

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR002610 Peptidase_S54_rhomboid
IPR022764 Peptidase_S54_rhomboid_dom
IPR035952 Rhomboid-like_sf
IPR022241 Rhomboid_SP
PANTHERiPTHR22936 PTHR22936, 1 hit
PfamiView protein in Pfam
PF01694 Rhomboid, 1 hit
PF12595 Rhomboid_SP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRHDF2_HUMAN
AccessioniPrimary (citable) accession number: Q6PJF5
Secondary accession number(s): A6NEM3
, A8K801, Q5U607, Q5YGQ8, Q9H6E9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: July 1, 2008
Last modified: November 7, 2018
This is version 122 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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