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Q7TQ32

- RGMC_MOUSE

UniProt

Q7TQ32 - RGMC_MOUSE

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Protein

Hemojuvelin

Gene

Hfe2

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

Functioni

Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism (By similarity). Acts as a bone morphogenetic protein (BMP) coreceptor (By similarity). Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism (By similarity). May cooperate with hepcidin to restrict iron absorption in the gut (By similarity). Could represent the cellular receptor for hepcidin (By similarity).By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei165 – 1662Cleavage; by autolysisBy similarity

GO - Molecular functioni

  1. coreceptor activity Source: MGI

GO - Biological processi

  1. BMP signaling pathway Source: MGI
  2. iron ion homeostasis Source: MGI
  3. positive regulation of transcription from RNA polymerase II promoter Source: MGI
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_229826. Netrin-1 signaling.

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
ProteomesiUP000000589: Chromosome 3

Organism-specific databases

MGIiMGI:1916835. Hfe2.

Subcellular locationi

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

GO - Cellular componenti

  1. anchored component of membrane Source: UniProtKB-KW
  2. cell surface Source: MGI
  3. extracellular space Source: MGI
  4. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3232Sequence AnalysisAdd
BLAST
Chaini33 – 393361HemojuvelinPRO_0000030400Add
BLAST
Propeptidei394 – 42027Removed in mature formSequence AnalysisPRO_0000030401Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi111 – 1111N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi141 ↔ 223By similarity
Disulfide bondi160 ↔ 310By similarity
Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence Analysis
Glycosylationi365 – 3651N-linked (GlcNAc...)Sequence Analysis
Lipidationi393 – 3931GPI-anchor amidated aspartateSequence Analysis

Post-translational modificationi

Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds.By similarity

Keywords - PTMi

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

Proteomic databases

PaxDbiQ7TQ32.
PRIDEiQ7TQ32.

PTM databases

PhosphoSiteiQ7TQ32.

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

BgeeiQ7TQ32.
CleanExiMM_HFE2.
GenevestigatoriQ7TQ32.

Interactioni

Subunit structurei

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

Structurei

3D structure databases

ProteinModelPortaliQ7TQ32.
SMRiQ7TQ32. Positions 166-319.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG87951.
GeneTreeiENSGT00390000008488.
HOGENOMiHOG000013072.
HOVERGENiHBG057627.
InParanoidiQ7TQ32.
KOiK06847.
OMAiPPGFLHC.
OrthoDBiEOG7VQJDC.
PhylomeDBiQ7TQ32.
TreeFamiTF329836.

Family and domain databases

InterProiIPR009496. RGM_C.
IPR010536. RGM_N.
[Graphical view]
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti264 – 2641G → W in BAC25423. (PubMed:16141072)Curated
Sequence conflicti379 – 3791I → V in AAH22603. (PubMed:15489334)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 219219Missing in isoform 2. 2 PublicationsVSP_011321Add
BLAST

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_006502099.1. XM_006502036.1. [Q7TQ32-1]
XP_006502100.1. XM_006502037.1. [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 .
CCDSi CCDS51003.1. [Q7TQ32-1 ]
RefSeqi NP_081402.3. NM_027126.4. [Q7TQ32-1 ]
XP_006502099.1. XM_006502036.1. [Q7TQ32-1 ]
XP_006502100.1. XM_006502037.1. [Q7TQ32-1 ]
UniGenei Mm.171314.

3D structure databases

ProteinModelPortali Q7TQ32.
SMRi Q7TQ32. Positions 166-319.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q7TQ32.

Proteomic databases

PaxDbi Q7TQ32.
PRIDEi Q7TQ32.

Protocols and materials databases

DNASUi 69585.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000049208 ; ENSMUSP00000046659 ; ENSMUSG00000038403 . [Q7TQ32-1 ]
GeneIDi 69585.
KEGGi mmu:69585.
UCSCi uc008qna.2. mouse. [Q7TQ32-1 ]

Organism-specific databases

CTDi 148738.
MGIi MGI:1916835. Hfe2.

Phylogenomic databases

eggNOGi NOG87951.
GeneTreei ENSGT00390000008488.
HOGENOMi HOG000013072.
HOVERGENi HBG057627.
InParanoidi Q7TQ32.
KOi K06847.
OMAi PPGFLHC.
OrthoDBi EOG7VQJDC.
PhylomeDBi Q7TQ32.
TreeFami TF329836.

Enzyme and pathway databases

Reactomei REACT_229826. Netrin-1 signaling.

Miscellaneous databases

NextBioi 329852.
PMAP-CutDB Q7TQ32.
PROi Q7TQ32.
SOURCEi Search...

Gene expression databases

Bgeei Q7TQ32.
CleanExi MM_HFE2.
Genevestigatori Q7TQ32.

Family and domain databases

InterProi IPR009496. RGM_C.
IPR010536. RGM_N.
[Graphical view ]
Pfami PF06534. RGM_C. 1 hit.
PF06535. RGM_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and expression pattern of three mouse homologues of chick Rgm."
    Schmidtmer J., Engelkamp D.
    Gene Expr. Patterns 4:105-110(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Strain: C57BL/6J.
    Tissue: Head and Tongue.
  3. "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 2).
    Strain: FVB/N.
    Tissue: Liver.
  4. Cited for: FUNCTION, INTERACTION WITH BMP2 AND BMP4.

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 26, 2014
This is version 87 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

External Data

Dasty 3