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Q7TQ32 (RGMC_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hemojuvelin
Alternative name(s):
Hemochromatosis type 2 protein homolog
RGM domain family member C
Gene names
Name:Hfe2
Synonyms:Rgmc
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length420 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4

Subunit structure

Interacts with BMP2 and BMP4. Interacts with BMPR1B By similarity. Interacts with TMPRSS6 By similarity. Ref.4

Subcellular location

Cell membrane; Lipid-anchorGPI-anchor By similarity.

Tissue specificity

Muscle cell lineage. Ref.1

Developmental stage

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. Ref.1

Sequence similarities

Belongs to the repulsive guidance molecule (RGM) family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7TQ32-1)

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.
Isoform 2 (identifier: Q7TQ32-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3232 Potential
Chain33 – 393361Hemojuvelin
PRO_0000030400
Propeptide394 – 42027Removed in mature form Potential
PRO_0000030401

Amino acid modifications

Lipidation3931GPI-anchor amidated aspartate Potential
Glycosylation1111N-linked (GlcNAc...) Potential
Glycosylation2061N-linked (GlcNAc...) Potential
Glycosylation3651N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 219219Missing in isoform 2.
VSP_011321

Experimental info

Sequence conflict2641G → W in BAC25423. Ref.2
Sequence conflict3791I → V in AAH22603. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: B336B0686EDFC938

FASTA42044,848
        10         20         30         40         50         60 
MGQSPSPRSP HGSPPTLSTL TLLLLLCGQA HSQCKILRCN AEYVSSTLSL RGGGSPDTPR 

        70         80         90        100        110        120 
GGGRGGLASG GLCRALRSYA LCTRRTARTC RGDLAFHSAV HGIEDLMIQH NCSRQGPTAP 

       130        140        150        160        170        180 
PPARGPALPG AGPAPLTPDP CDYEARFSRL HGRAPGFLHC ASFGDPHVRS FHNQFHTCRV 

       190        200        210        220        230        240 
QGAWPLLDND FLFVQATSSP VSSGANATTI RKITIIFKNM QECIDQKVYQ AEVDNLPAAF 

       250        260        270        280        290        300 
EDGSINGGDR PGGSSLSIQT ANLGSHVEIR AAYIGTTIII RQTAGQLSFS IRVAEDVARA 

       310        320        330        340        350        360 
FSAEQDLQLC VGGCPPSQRL SRSERNRRGA IAIDTARRLC KEGLPVEDAY FQSCVFDVSV 

       370        380        390        400        410        420 
SGDPNFTVAA QTALDDARIF LTDLENLHLF PSDAGPPLSP AICLVPLLSA LFVLWLCFSK 

« Hide

Isoform 2 [UniParc].

Checksum: B37DB2624D621C28
Show »

FASTA20121,648

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression."
Babitt J.L., Huang F.W., Wrighting D.M., Xia Y., Sidis Y., Samad T.A., Campagna J.A., Chung R.T., Schneyer A.L., Woolf C.J., Andrews N.C., Lin H.Y.
Nat. Genet. 38:531-539(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH BMP2 AND BMP4.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ557515 mRNA. Translation: CAD89720.1.
AK009636 mRNA. Translation: BAB26407.1.
AK014082 mRNA. Translation: BAC25423.1.
BC022603 mRNA. Translation: AAH22603.1.
RefSeqNP_081402.3. NM_027126.4.
XP_006502099.1. XM_006502036.1.
XP_006502100.1. XM_006502037.1.
UniGeneMm.171314.

3D structure databases

ProteinModelPortalQ7TQ32.
SMRQ7TQ32. Positions 166-319.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ7TQ32.

Proteomic databases

PaxDbQ7TQ32.
PRIDEQ7TQ32.

Protocols and materials databases

DNASU69585.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000049208; ENSMUSP00000046659; ENSMUSG00000038403. [Q7TQ32-1]
GeneID69585.
KEGGmmu:69585.
UCSCuc008qna.2. mouse. [Q7TQ32-1]

Organism-specific databases

CTD148738.
MGIMGI:1916835. Hfe2.

Phylogenomic databases

eggNOGNOG87951.
GeneTreeENSGT00390000008488.
HOGENOMHOG000013072.
HOVERGENHBG057627.
InParanoidQ7TQ32.
KOK06847.
OMAPPGFLHC.
OrthoDBEOG7VQJDC.
PhylomeDBQ7TQ32.
TreeFamTF329836.

Gene expression databases

BgeeQ7TQ32.
CleanExMM_HFE2.
GenevestigatorQ7TQ32.

Family and domain databases

InterProIPR009496. RGM_C.
IPR010536. RGM_N.
[Graphical view]
PfamPF06534. RGM_C. 1 hit.
PF06535. RGM_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio329852.
PMAP-CutDBQ7TQ32.
PROQ7TQ32.
SOURCESearch...

Entry information

Entry nameRGMC_MOUSE
AccessionPrimary (citable) accession number: Q7TQ32
Secondary accession number(s): Q8CEU7, Q8K1D4, Q9D741
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2003
Last modified: April 16, 2014
This is version 80 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

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