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Protein

Hemojuvelin

Gene

Hjv

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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: MGI
  • BMP receptor activity Source: Ensembl
  • coreceptor activity Source: MGI
  • signaling receptor binding Source: MGI
  • transferrin receptor binding Source: MGI

GO - Biological processi

Names & Taxonomyi

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

Organism-specific databases

MGIiMGI:1916835 Hfe2

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

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...) asparagineSequence analysis1
Disulfide bondi141 ↔ 223By similarity
Disulfide bondi160 ↔ 310By similarity
Glycosylationi206N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi365N-linked (GlcNAc...) asparagineSequence 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 HJV 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-CutDBiQ7TQ32

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 Expressed in 106 organ(s), highest expression level in gastrocnemius
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

Protein-protein interaction databases

BioGridi213552, 1 interactor
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
OMAiAPDPCDY
OrthoDBiEOG091G0NF6
PhylomeDBiQ7TQ32
TreeFamiTF329836

Family and domain databases

Gene3Di3.40.1000.10, 1 hit
InterProiView protein in InterPro
IPR033606 Hemojuvelin
IPR016123 Mog1/PsbP_a/b/a-sand
IPR009496 RGM_C
IPR010536 RGM_N
PANTHERiPTHR31428:SF3 PTHR31428:SF3, 1 hit
PfamiView protein in Pfam
PF06534 RGM_C, 1 hit
PF06535 RGM_N, 1 hit

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

Similar proteinsi

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

BioGridi213552, 1 interactor
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

CTDi69585
MGIiMGI:1916835 Hfe2

Phylogenomic databases

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

Miscellaneous databases

PMAP-CutDBiQ7TQ32
PROiPR:Q7TQ32
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000038403 Expressed in 106 organ(s), highest expression level in gastrocnemius
CleanExiMM_HFE2
GenevisibleiQ7TQ32 MM

Family and domain databases

Gene3Di3.40.1000.10, 1 hit
InterProiView protein in InterPro
IPR033606 Hemojuvelin
IPR016123 Mog1/PsbP_a/b/a-sand
IPR009496 RGM_C
IPR010536 RGM_N
PANTHERiPTHR31428:SF3 PTHR31428:SF3, 1 hit
PfamiView protein in Pfam
PF06534 RGM_C, 1 hit
PF06535 RGM_N, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRGMC_MOUSE
AccessioniPrimary (citable) accession number: Q7TQ32
Secondary accession number(s): Q8CEU7, Q8K1D4, Q9D741
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2003
Last modified: November 7, 2018
This is version 115 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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