Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Hemojuvelin

Gene

Hfe2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.1 Publication

GO - Molecular functioni

  • BMP binding Source: BHF-UCL
  • BMP receptor activity Source: Ensembl
  • coreceptor activity Source: MGI
  • glycoprotein binding Source: MGI
  • receptor binding Source: MGI
  • transferrin receptor binding Source: MGI

GO - Biological processi

  • activin receptor signaling pathway Source: MGI
  • BMP signaling pathway Source: MGI
  • cellular iron ion homeostasis Source: BHF-UCL
  • cellular response to BMP stimulus Source: MGI
  • iron ion homeostasis Source: CACAO
  • negative regulation of BMP signaling pathway Source: MGI
  • negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • protein autoprocessing Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Hemojuvelin
Alternative name(s):
Hemochromatosis type 2 protein homolog
RGM domain family member C
Gene namesi
Name:Hfe2
Synonyms:Rgmc
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:1916835. Hfe2.

Subcellular locationi

  • Cell membrane By similarity; Lipid-anchorGPI-anchor By similarity

  • Note: Also released in the extracellular space.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 32Sequence analysisAdd BLAST32
ChainiPRO_000003040033 – 393HemojuvelinAdd BLAST361
PropeptideiPRO_0000030401394 – 420Removed in mature formSequence analysisAdd BLAST27

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei43PhosphotyrosineCombined sources1
Glycosylationi111N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi141 ↔ 223By similarity
Disulfide bondi160 ↔ 310By similarity
Glycosylationi206N-linked (GlcNAc...)Sequence analysis1
Glycosylationi365N-linked (GlcNAc...)Sequence analysis1
Lipidationi393GPI-anchor amidated aspartateSequence analysis1

Post-translational modificationi

Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds. Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HFE2 activity in BMP signaling and thefore iron homeostasis.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei165 – 166Cleavage; by autolysisBy similarity2

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ7TQ32.
PRIDEiQ7TQ32.

PTM databases

iPTMnetiQ7TQ32.
PhosphoSitePlusiQ7TQ32.

Miscellaneous databases

PMAP-CutDBQ7TQ32.

Expressioni

Tissue specificityi

Muscle cell lineage.1 Publication

Developmental stagei

Expressed at low levels in somite derived structures. In the developing eye, marked the ocular musculature. Expressed in all differentiating muscles of the limb and the body wall, but not in migrating muscle precursor cells. Not detected in the nervous system, either at E9.5 or at any stage later during development.1 Publication

Gene expression databases

BgeeiENSMUSG00000038403.
CleanExiMM_HFE2.
GenevisibleiQ7TQ32. MM.

Interactioni

Subunit structurei

Interacts with BMP2 and BMP4. Interacts with BMPR1B (By similarity). Interacts with TMPRSS6 (By similarity).By similarity

GO - Molecular functioni

  • BMP binding Source: BHF-UCL
  • receptor binding Source: MGI
  • transferrin receptor binding Source: MGI

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000046659.

Structurei

3D structure databases

ProteinModelPortaliQ7TQ32.
SMRiQ7TQ32.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IFAH. Eukaryota.
ENOG410ZT7E. LUCA.
GeneTreeiENSGT00390000008488.
HOGENOMiHOG000013072.
HOVERGENiHBG057627.
InParanoidiQ7TQ32.
KOiK06847.
OMAiRFSRLHG.
OrthoDBiEOG091G0NF6.
PhylomeDBiQ7TQ32.
TreeFamiTF329836.

Family and domain databases

InterProiIPR033606. Hemojuvelin.
IPR009496. RGM_C.
IPR010536. RGM_N.
[Graphical view]
PANTHERiPTHR31428:SF3. PTHR31428:SF3. 1 hit.
PfamiPF06534. RGM_C. 1 hit.
PF06535. RGM_N. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q7TQ32-1) [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
MGQSPSPRSP HGSPPTLSTL TLLLLLCGQA HSQCKILRCN AEYVSSTLSL
60 70 80 90 100
RGGGSPDTPR GGGRGGLASG GLCRALRSYA LCTRRTARTC RGDLAFHSAV
110 120 130 140 150
HGIEDLMIQH NCSRQGPTAP PPARGPALPG AGPAPLTPDP CDYEARFSRL
160 170 180 190 200
HGRAPGFLHC ASFGDPHVRS FHNQFHTCRV QGAWPLLDND FLFVQATSSP
210 220 230 240 250
VSSGANATTI RKITIIFKNM QECIDQKVYQ AEVDNLPAAF EDGSINGGDR
260 270 280 290 300
PGGSSLSIQT ANLGSHVEIR AAYIGTTIII RQTAGQLSFS IRVAEDVARA
310 320 330 340 350
FSAEQDLQLC VGGCPPSQRL SRSERNRRGA IAIDTARRLC KEGLPVEDAY
360 370 380 390 400
FQSCVFDVSV SGDPNFTVAA QTALDDARIF LTDLENLHLF PSDAGPPLSP
410 420
AICLVPLLSA LFVLWLCFSK
Length:420
Mass (Da):44,848
Last modified:October 1, 2003 - v1
Checksum:iB336B0686EDFC938
GO
Isoform 2 (identifier: Q7TQ32-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-219: Missing.

Show »
Length:201
Mass (Da):21,648
Checksum:iB37DB2624D621C28
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti264G → W in BAC25423 (PubMed:16141072).Curated1
Sequence conflicti379I → V in AAH22603 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0113211 – 219Missing in isoform 2. 2 PublicationsAdd BLAST219

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ557515 mRNA. Translation: CAD89720.1.
AK009636 mRNA. Translation: BAB26407.1.
AK014082 mRNA. Translation: BAC25423.1.
BC022603 mRNA. Translation: AAH22603.1.
CCDSiCCDS51003.1. [Q7TQ32-1]
RefSeqiNP_081402.3. NM_027126.4. [Q7TQ32-1]
XP_006502100.1. XM_006502037.3. [Q7TQ32-1]
UniGeneiMm.171314.

Genome annotation databases

EnsembliENSMUST00000049208; ENSMUSP00000046659; ENSMUSG00000038403. [Q7TQ32-1]
GeneIDi69585.
KEGGimmu:69585.
UCSCiuc008qna.2. mouse. [Q7TQ32-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ557515 mRNA. Translation: CAD89720.1.
AK009636 mRNA. Translation: BAB26407.1.
AK014082 mRNA. Translation: BAC25423.1.
BC022603 mRNA. Translation: AAH22603.1.
CCDSiCCDS51003.1. [Q7TQ32-1]
RefSeqiNP_081402.3. NM_027126.4. [Q7TQ32-1]
XP_006502100.1. XM_006502037.3. [Q7TQ32-1]
UniGeneiMm.171314.

3D structure databases

ProteinModelPortaliQ7TQ32.
SMRiQ7TQ32.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000046659.

PTM databases

iPTMnetiQ7TQ32.
PhosphoSitePlusiQ7TQ32.

Proteomic databases

PaxDbiQ7TQ32.
PRIDEiQ7TQ32.

Protocols and materials databases

DNASUi69585.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000049208; ENSMUSP00000046659; ENSMUSG00000038403. [Q7TQ32-1]
GeneIDi69585.
KEGGimmu:69585.
UCSCiuc008qna.2. mouse. [Q7TQ32-1]

Organism-specific databases

CTDi148738.
MGIiMGI:1916835. Hfe2.

Phylogenomic databases

eggNOGiENOG410IFAH. Eukaryota.
ENOG410ZT7E. LUCA.
GeneTreeiENSGT00390000008488.
HOGENOMiHOG000013072.
HOVERGENiHBG057627.
InParanoidiQ7TQ32.
KOiK06847.
OMAiRFSRLHG.
OrthoDBiEOG091G0NF6.
PhylomeDBiQ7TQ32.
TreeFamiTF329836.

Miscellaneous databases

PMAP-CutDBQ7TQ32.
PROiQ7TQ32.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000038403.
CleanExiMM_HFE2.
GenevisibleiQ7TQ32. MM.

Family and domain databases

InterProiIPR033606. Hemojuvelin.
IPR009496. RGM_C.
IPR010536. RGM_N.
[Graphical view]
PANTHERiPTHR31428:SF3. PTHR31428:SF3. 1 hit.
PfamiPF06534. RGM_C. 1 hit.
PF06535. RGM_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRGMC_MOUSE
AccessioniPrimary (citable) accession number: Q7TQ32
Secondary accession number(s): Q8CEU7, Q8K1D4, Q9D741
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2003
Last modified: November 2, 2016
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.