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Q6PJF5

- RHDF2_HUMAN

UniProt

Q6PJF5 - RHDF2_HUMAN

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Protein

Inactive rhomboid protein 2

Gene

RHBDF2

Organism
Homo sapiens (Human)
Status
Reviewed - 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 - Molecular functioni

  1. serine-type endopeptidase activity Source: InterPro

GO - Biological processi

  1. negative regulation of protein secretion Source: UniProtKB
  2. protein transport Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:20788. RHBDF2.

Subcellular locationi

Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity. Cell membrane 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. 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) [MIM:148500]: An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861I → T in TOC. 1 Publication
VAR_067827
Natural varianti189 – 1891P → L in TOC. 1 Publication
VAR_067828

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

MIMi148500. phenotype.
Orphaneti2198. Palmoplantar keratoderma-esophageal carcinoma syndrome.
PharmGKBiPA134980674.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 856856Inactive rhomboid protein 2PRO_0000341938Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei90 – 901Phosphoserine1 Publication
Modified residuei113 – 1131PhosphoserineBy similarity
Modified residuei117 – 1171PhosphoserineBy similarity
Modified residuei323 – 3231PhosphoserineBy similarity
Modified residuei325 – 3251Phosphoserine1 Publication
Modified residuei328 – 3281Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6PJF5.
PaxDbiQ6PJF5.
PRIDEiQ6PJF5.

PTM databases

PhosphoSiteiQ6PJF5.

Expressioni

Tissue specificityi

Found in the epidermis and esophageal epithelium.1 Publication

Gene expression databases

BgeeiQ6PJF5.
CleanExiHS_RHBDF2.
ExpressionAtlasiQ6PJF5. baseline and differential.
GenevestigatoriQ6PJF5.

Organism-specific databases

HPAiHPA018080.

Interactioni

Subunit structurei

Interacts with EGF.By similarity

Protein-protein interaction databases

BioGridi122779. 4 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ6PJF5.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 409409CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini431 – 660230LumenalSequence AnalysisAdd
BLAST
Topological domaini682 – 69211CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini714 – 7152LumenalSequence Analysis
Topological domaini737 – 74711CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini769 – 7735LumenalSequence Analysis
Topological domaini795 – 8028CytoplasmicSequence Analysis
Topological domaini824 – 85633LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei410 – 43021HelicalSequence AnalysisAdd
BLAST
Transmembranei661 – 68121HelicalSequence AnalysisAdd
BLAST
Transmembranei693 – 71321HelicalSequence AnalysisAdd
BLAST
Transmembranei716 – 73621HelicalSequence AnalysisAdd
BLAST
Transmembranei748 – 76821HelicalSequence AnalysisAdd
BLAST
Transmembranei774 – 79421HelicalSequence AnalysisAdd
BLAST
Transmembranei803 – 82321HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase S54 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0705.
GeneTreeiENSGT00390000012532.
HOGENOMiHOG000154118.
HOVERGENiHBG059673.
InParanoidiQ6PJF5.
OMAiRGIPHSA.
OrthoDBiEOG7288QH.
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. 1 hit.
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. Align

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 AAH35829.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence BAB15310.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti67 – 671A → S in BAF84824. (PubMed:14702039)Curated
Sequence conflicti67 – 671A → S in AAH16034. (PubMed:15489334)Curated
Sequence conflicti705 – 7051N → D in BAF84855. (PubMed:14702039)Curated
Sequence conflicti852 – 8521D → G in BAF84855. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861I → T in TOC. 1 Publication
VAR_067827
Natural varianti189 – 1891P → L in TOC. 1 Publication
VAR_067828
Natural varianti208 – 2081P → L.3 Publications
Corresponds to variant rs3744045 [ dbSNP | Ensembl ].
VAR_044125
Natural varianti249 – 2491A → T.
Corresponds to variant rs34814954 [ dbSNP | Ensembl ].
VAR_044126
Natural varianti528 – 5281D → Y.
Corresponds to variant rs11553545 [ dbSNP | Ensembl ].
VAR_044127

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei51 – 7929Missing in isoform 2. 2 PublicationsVSP_034368Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005257669.1. [Q6PJF5-1]
XP_005257727.1. XM_005257670.1. [Q6PJF5-2]
UniGeneiHs.464157.

Genome annotation databases

EnsembliENST00000313080; ENSP00000322775; ENSG00000129667. [Q6PJF5-1]
ENST00000591885; ENSP00000466867; ENSG00000129667. [Q6PJF5-2]
GeneIDi79651.
KEGGihsa:79651.
UCSCiuc002jrq.2. human. [Q6PJF5-1]
uc021udh.1. human. [Q6PJF5-2]

Polymorphism databases

DMDMi193806488.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005257669.1. [Q6PJF5-1 ]
XP_005257727.1. XM_005257670.1. [Q6PJF5-2 ]
UniGenei Hs.464157.

3D structure databases

ProteinModelPortali Q6PJF5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122779. 4 interactions.

Protein family/group databases

MEROPSi S54.953.

PTM databases

PhosphoSitei Q6PJF5.

Polymorphism databases

DMDMi 193806488.

Proteomic databases

MaxQBi Q6PJF5.
PaxDbi Q6PJF5.
PRIDEi Q6PJF5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000313080 ; ENSP00000322775 ; ENSG00000129667 . [Q6PJF5-1 ]
ENST00000591885 ; ENSP00000466867 ; ENSG00000129667 . [Q6PJF5-2 ]
GeneIDi 79651.
KEGGi hsa:79651.
UCSCi uc002jrq.2. human. [Q6PJF5-1 ]
uc021udh.1. human. [Q6PJF5-2 ]

Organism-specific databases

CTDi 79651.
GeneCardsi GC17M074466.
HGNCi HGNC:20788. RHBDF2.
HPAi HPA018080.
MIMi 148500. phenotype.
614404. gene.
neXtProti NX_Q6PJF5.
Orphaneti 2198. Palmoplantar keratoderma-esophageal carcinoma syndrome.
PharmGKBi PA134980674.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0705.
GeneTreei ENSGT00390000012532.
HOGENOMi HOG000154118.
HOVERGENi HBG059673.
InParanoidi Q6PJF5.
OMAi RGIPHSA.
OrthoDBi EOG7288QH.
PhylomeDBi Q6PJF5.
TreeFami TF312988.

Miscellaneous databases

GeneWikii RHBDF2.
GenomeRNAii 79651.
NextBioi 68812.
PROi Q6PJF5.
SOURCEi Search...

Gene expression databases

Bgeei Q6PJF5.
CleanExi HS_RHBDF2.
ExpressionAtlasi Q6PJF5. baseline and differential.
Genevestigatori Q6PJF5.

Family and domain databases

Gene3Di 1.20.1540.10. 2 hits.
InterProi IPR002610. Peptidase_S54_rhomboid.
IPR022764. Peptidase_S54_rhomboid_dom.
IPR022241. Rhomboid_SP.
[Graphical view ]
PANTHERi PTHR22936. PTHR22936. 1 hit.
Pfami PF01694. Rhomboid. 1 hit.
PF12595. Rhomboid_SP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of human RHBDL5."
    Kong X., Teng X., Hu L.
    Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT LEU-208.
    Tissue: Liver.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-208.
    Tissue: Kidney epithelium, Spleen and Synovium.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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), VARIANT LEU-208.
    Tissue: Eye and Uterus.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-90; SER-325 AND SER-328, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS TOC THR-186 AND LEU-189.

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: October 29, 2014
This is version 90 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

External Data

Dasty 3