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Protein

Inactive rhomboid protein 2

Gene

RHBDF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

Growth factor binding

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:20788. RHBDF2.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: UniProtKB
Complete GO annotation...

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 rs387907129dbSNPEnsembl.1
Natural variantiVAR_067828189P → L in TOC. 1 PublicationCorresponds to variant rs387907130dbSNPEnsembl.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.

PTM databases

iPTMnetiQ6PJF5.
PhosphoSitePlusiQ6PJF5.

Expressioni

Tissue specificityi

Found in the epidermis and esophageal epithelium.1 Publication

Gene expression databases

BgeeiENSG00000129667.
CleanExiHS_RHBDF2.
ExpressionAtlasiQ6PJF5. baseline and differential.
GenevisibleiQ6PJF5. HS.

Organism-specific databases

HPAiHPA018080.

Interactioni

Subunit structurei

Interacts with EGF.By similarity

Protein-protein interaction databases

BioGridi122779. 6 interactors.
STRINGi9606.ENSP00000322775.

Structurei

3D structure databases

ProteinModelPortaliQ6PJF5.
SMRiQ6PJF5.
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.
OMAiRGRWQEG.
OrthoDBiEOG091G021G.
PhylomeDBiQ6PJF5.
TreeFamiTF312988.

Family and domain databases

Gene3Di1.20.1540.10. 2 hits.
InterProiIPR002610. Peptidase_S54_rhomboid.
IPR022764. Peptidase_S54_rhomboid_dom.
IPR022241. Rhomboid_SP.
[Graphical view]
PANTHERiPTHR22936. PTHR22936. 2 hits.
PfamiPF01694. Rhomboid. 1 hit.
PF12595. Rhomboid_SP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 rs387907129dbSNPEnsembl.1
Natural variantiVAR_067828189P → L in TOC. 1 PublicationCorresponds to variant rs387907130dbSNPEnsembl.1
Natural variantiVAR_044125208P → L.3 PublicationsCorresponds to variant rs3744045dbSNPEnsembl.1
Natural variantiVAR_044126249A → T.Corresponds to variant rs34814954dbSNPEnsembl.1
Natural variantiVAR_044127528D → Y.Corresponds to variant rs11553545dbSNPEnsembl.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

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.
SMRiQ6PJF5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122779. 6 interactors.
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.

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.
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.
OMAiRGRWQEG.
OrthoDBiEOG091G021G.
PhylomeDBiQ6PJF5.
TreeFamiTF312988.

Miscellaneous databases

GeneWikiiRHBDF2.
GenomeRNAii79651.
PROiQ6PJF5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129667.
CleanExiHS_RHBDF2.
ExpressionAtlasiQ6PJF5. baseline and differential.
GenevisibleiQ6PJF5. HS.

Family and domain databases

Gene3Di1.20.1540.10. 2 hits.
InterProiIPR002610. Peptidase_S54_rhomboid.
IPR022764. Peptidase_S54_rhomboid_dom.
IPR022241. Rhomboid_SP.
[Graphical view]
PANTHERiPTHR22936. PTHR22936. 2 hits.
PfamiPF01694. Rhomboid. 1 hit.
PF12595. Rhomboid_SP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRHDF2_HUMAN
AccessioniPrimary (citable) accession number: Q6PJF5
Secondary accession number(s): A6NEM3
, A8K801, Q5U607, Q5YGQ8, Q9H6E9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: July 1, 2008
Last modified: November 2, 2016
This is version 107 of the entry and version 2 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. 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.