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Q6ZVN8

- RGMC_HUMAN

UniProt

Q6ZVN8 - RGMC_HUMAN

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Protein

Hemojuvelin

Gene

HFE2

Organism
Homo sapiens (Human)
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. 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. Could represent the cellular receptor for hepcidin.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei172 – 1732Cleavage; by autolysisBy similarity

GO - Molecular functioni

  1. coreceptor activity Source: Ensembl

GO - Biological processi

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

Enzyme and pathway databases

ReactomeiREACT_22237. Netrin-1 signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
Hemojuvelin
Alternative name(s):
Hemochromatosis type 2 protein
RGM domain family member C
Gene namesi
Name:HFE2
Synonyms:HJV, RGMC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4887. 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: Ensembl
  3. extracellular space Source: Ensembl
  4. plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hemochromatosis 2A (HFE2A) [MIM:602390]: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801C → R in HFE2A. 1 Publication
Corresponds to variant rs28940586 [ dbSNP | Ensembl ].
VAR_019617
Natural varianti85 – 851S → P in HFE2A. 1 Publication
VAR_019618
Natural varianti99 – 991G → R in HFE2A. 1 Publication
VAR_019619
Natural varianti101 – 1011L → P in HFE2A. 1 Publication
VAR_019620
Natural varianti168 – 1681A → D in HFE2A. 1 Publication
VAR_019621
Natural varianti170 – 1701F → S in HFE2A. 1 Publication
VAR_019622
Natural varianti172 – 1721D → E in HFE2A. 1 Publication
VAR_019623
Natural varianti191 – 1911W → C in HFE2A. 1 Publication
VAR_019624
Natural varianti205 – 2051S → R in HFE2A. 1 Publication
VAR_019625
Natural varianti222 – 2221I → N in HFE2A. 2 Publications
VAR_019626
Natural varianti250 – 2501G → V in HFE2A. 1 Publication
VAR_019627
Natural varianti288 – 2881R → W in HFE2A. 1 Publication
VAR_019628
Natural varianti320 – 3201G → V in HFE2A. 4 Publications
VAR_019629
Natural varianti321 – 3211C → W in HFE2A. 1 Publication
VAR_019927

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi602390. phenotype.
Orphaneti79230. Hemochromatosis type 2.
PharmGKBiPA29264.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3535Sequence AnalysisAdd
BLAST
Chaini36 – 400365HemojuvelinPRO_0000030398Add
BLAST
Propeptidei401 – 42626Removed in mature formSequence AnalysisPRO_0000030399Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi118 – 1181N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi148 ↔ 230By similarity
Disulfide bondi167 ↔ 317By similarity
Glycosylationi213 – 2131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi372 – 3721N-linked (GlcNAc...)Sequence Analysis
Lipidationi400 – 4001GPI-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

PaxDbiQ6ZVN8.
PRIDEiQ6ZVN8.

PTM databases

PhosphoSiteiQ6ZVN8.

Expressioni

Tissue specificityi

Adult and fetal liver, heart, and skeletal muscle.1 Publication

Gene expression databases

BgeeiQ6ZVN8.
CleanExiHS_HFE2.
ExpressionAtlasiQ6ZVN8. baseline and differential.
GenevestigatoriQ6ZVN8.

Organism-specific databases

HPAiHPA014472.

Interactioni

Subunit structurei

Interacts with BMP2 and BMP4 (By similarity). Interacts with BMPR1B. Interacts with TMPRSS6.By similarity2 Publications

Protein-protein interaction databases

STRINGi9606.ENSP00000337014.

Structurei

3D structure databases

ProteinModelPortaliQ6ZVN8.
SMRiQ6ZVN8. Positions 173-326.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi64 – 7815Poly-GlyAdd
BLAST
Compositional biasi127 – 1304Poly-Pro

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG87951.
GeneTreeiENSGT00390000008488.
HOGENOMiHOG000013072.
HOVERGENiHBG057627.
InParanoidiQ6ZVN8.
KOiK06847.
OMAiPPGFLHC.
PhylomeDBiQ6ZVN8.
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 (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform a (identifier: Q6ZVN8-1) [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
MGEPGQSPSP RSSHGSPPTL STLTLLLLLC GHAHSQCKIL RCNAEYVSST
60 70 80 90 100
LSLRGGGSSG ALRGGGGGGR GGGVGSGGLC RALRSYALCT RRTARTCRGD
110 120 130 140 150
LAFHSAVHGI EDLMIQHNCS RQGPTAPPPP RGPALPGAGS GLPAPDPCDY
160 170 180 190 200
EGRFSRLHGR PPGFLHCASF GDPHVRSFHH HFHTCRVQGA WPLLDNDFLF
210 220 230 240 250
VQATSSPMAL GANATATRKL TIIFKNMQEC IDQKVYQAEV DNLPVAFEDG
260 270 280 290 300
SINGGDRPGG SSLSIQTANP GNHVEIQAAY IGTTIIIRQT AGQLSFSIKV
310 320 330 340 350
AEDVAMAFSA EQDLQLCVGG CPPSQRLSRS ERNRRGAITI DTARRLCKEG
360 370 380 390 400
LPVEDAYFHS CVFDVLISGD PNFTVAAQAA LEDARAFLPD LEKLHLFPSD
410 420
AGVPLSSATL LAPLLSGLFV LWLCIQ
Length:426
Mass (Da):45,080
Last modified:July 5, 2004 - v1
Checksum:i031C835F9B6DC06C
GO
Isoform b (identifier: Q6ZVN8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.

Show »
Length:313
Mass (Da):33,679
Checksum:i0B056ED5D92B26E6
GO
Isoform c (identifier: Q6ZVN8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-226: Missing.

Show »
Length:200
Mass (Da):21,463
Checksum:i7A7F39D3AD7F8CC5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti69 – 691G → GG in ABC40718. 1 PublicationCurated
Sequence conflicti299 – 2991K → E in BAC03944. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801C → R in HFE2A. 1 Publication
Corresponds to variant rs28940586 [ dbSNP | Ensembl ].
VAR_019617
Natural varianti85 – 851S → P in HFE2A. 1 Publication
VAR_019618
Natural varianti99 – 991G → R in HFE2A. 1 Publication
VAR_019619
Natural varianti101 – 1011L → P in HFE2A. 1 Publication
VAR_019620
Natural varianti168 – 1681A → D in HFE2A. 1 Publication
VAR_019621
Natural varianti170 – 1701F → S in HFE2A. 1 Publication
VAR_019622
Natural varianti172 – 1721D → E in HFE2A. 1 Publication
VAR_019623
Natural varianti191 – 1911W → C in HFE2A. 1 Publication
VAR_019624
Natural varianti205 – 2051S → R in HFE2A. 1 Publication
VAR_019625
Natural varianti222 – 2221I → N in HFE2A. 2 Publications
VAR_019626
Natural varianti250 – 2501G → V in HFE2A. 1 Publication
VAR_019627
Natural varianti288 – 2881R → W in HFE2A. 1 Publication
VAR_019628
Natural varianti310 – 3101A → G.
Corresponds to variant rs7540883 [ dbSNP | Ensembl ].
VAR_053636
Natural varianti320 – 3201G → V in HFE2A. 4 Publications
VAR_019629
Natural varianti321 – 3211C → W in HFE2A. 1 Publication
VAR_019927

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 226226Missing in isoform c. 1 PublicationVSP_011320Add
BLAST
Alternative sequencei1 – 113113Missing in isoform b. 2 PublicationsVSP_011319Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY372521 mRNA. Translation: AAR22390.1.
AK092682 mRNA. Translation: BAC03944.1.
AK124273 mRNA. Translation: BAC85823.1.
AK092692 mRNA. Translation: BAC03947.1.
AK096905 mRNA. Translation: BAC04890.1.
DQ309445 Genomic DNA. Translation: ABC40718.1.
AL355505, AL138842 Genomic DNA. Translation: CAI22091.1.
AL138842, AL355505 Genomic DNA. Translation: CAI22349.1.
CH471244 Genomic DNA. Translation: EAW71408.1.
BC017926 mRNA. Translation: AAH17926.1.
BC085604 mRNA. Translation: AAH85604.1.
CCDSiCCDS72877.1. [Q6ZVN8-3]
CCDS72878.1. [Q6ZVN8-2]
CCDS72879.1. [Q6ZVN8-1]
RefSeqiNP_660320.3. NM_145277.4. [Q6ZVN8-2]
NP_973733.1. NM_202004.3. [Q6ZVN8-3]
NP_998817.1. NM_213652.3. [Q6ZVN8-3]
NP_998818.1. NM_213653.3. [Q6ZVN8-1]
XP_005272989.1. XM_005272932.1. [Q6ZVN8-1]
UniGeneiHs.632436.

Genome annotation databases

EnsembliENST00000336751; ENSP00000337014; ENSG00000168509. [Q6ZVN8-1]
ENST00000357836; ENSP00000350495; ENSG00000168509. [Q6ZVN8-2]
ENST00000475797; ENSP00000425716; ENSG00000168509. [Q6ZVN8-3]
ENST00000497365; ENSP00000421820; ENSG00000168509. [Q6ZVN8-3]
GeneIDi148738.
KEGGihsa:148738.
UCSCiuc001eni.2. human. [Q6ZVN8-1]
uc001enj.2. human. [Q6ZVN8-3]

Polymorphism databases

DMDMi51316254.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY372521 mRNA. Translation: AAR22390.1 .
AK092682 mRNA. Translation: BAC03944.1 .
AK124273 mRNA. Translation: BAC85823.1 .
AK092692 mRNA. Translation: BAC03947.1 .
AK096905 mRNA. Translation: BAC04890.1 .
DQ309445 Genomic DNA. Translation: ABC40718.1 .
AL355505 , AL138842 Genomic DNA. Translation: CAI22091.1 .
AL138842 , AL355505 Genomic DNA. Translation: CAI22349.1 .
CH471244 Genomic DNA. Translation: EAW71408.1 .
BC017926 mRNA. Translation: AAH17926.1 .
BC085604 mRNA. Translation: AAH85604.1 .
CCDSi CCDS72877.1. [Q6ZVN8-3 ]
CCDS72878.1. [Q6ZVN8-2 ]
CCDS72879.1. [Q6ZVN8-1 ]
RefSeqi NP_660320.3. NM_145277.4. [Q6ZVN8-2 ]
NP_973733.1. NM_202004.3. [Q6ZVN8-3 ]
NP_998817.1. NM_213652.3. [Q6ZVN8-3 ]
NP_998818.1. NM_213653.3. [Q6ZVN8-1 ]
XP_005272989.1. XM_005272932.1. [Q6ZVN8-1 ]
UniGenei Hs.632436.

3D structure databases

ProteinModelPortali Q6ZVN8.
SMRi Q6ZVN8. Positions 173-326.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000337014.

PTM databases

PhosphoSitei Q6ZVN8.

Polymorphism databases

DMDMi 51316254.

Proteomic databases

PaxDbi Q6ZVN8.
PRIDEi Q6ZVN8.

Protocols and materials databases

DNASUi 148738.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000336751 ; ENSP00000337014 ; ENSG00000168509 . [Q6ZVN8-1 ]
ENST00000357836 ; ENSP00000350495 ; ENSG00000168509 . [Q6ZVN8-2 ]
ENST00000475797 ; ENSP00000425716 ; ENSG00000168509 . [Q6ZVN8-3 ]
ENST00000497365 ; ENSP00000421820 ; ENSG00000168509 . [Q6ZVN8-3 ]
GeneIDi 148738.
KEGGi hsa:148738.
UCSCi uc001eni.2. human. [Q6ZVN8-1 ]
uc001enj.2. human. [Q6ZVN8-3 ]

Organism-specific databases

CTDi 148738.
GeneCardsi GC01P145413.
GeneReviewsi HFE2.
HGNCi HGNC:4887. HFE2.
HPAi HPA014472.
MIMi 602390. phenotype.
608374. gene.
neXtProti NX_Q6ZVN8.
Orphaneti 79230. Hemochromatosis type 2.
PharmGKBi PA29264.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG87951.
GeneTreei ENSGT00390000008488.
HOGENOMi HOG000013072.
HOVERGENi HBG057627.
InParanoidi Q6ZVN8.
KOi K06847.
OMAi PPGFLHC.
PhylomeDBi Q6ZVN8.
TreeFami TF329836.

Enzyme and pathway databases

Reactomei REACT_22237. Netrin-1 signaling.

Miscellaneous databases

GeneWikii Hemojuvelin.
GenomeRNAii 148738.
NextBioi 85978.
PROi Q6ZVN8.
SOURCEi Search...

Gene expression databases

Bgeei Q6ZVN8.
CleanExi HS_HFE2.
ExpressionAtlasi Q6ZVN8. baseline and differential.
Genevestigatori Q6ZVN8.

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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, VARIANTS HFE2A ASN-222 AND VAL-320.
    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 A AND B).
    Tissue: Liver and Skeletal muscle.
  3. NIEHS SNPs program
    Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] (ISOFORMS B AND C).
    Tissue: PNS and Skeletal muscle.
  7. Cited for: INTERACTION WITH BMPR1B.
  8. "Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia."
    Silvestri L., Guillem F., Pagani A., Nai A., Oudin C., Silva M., Toutain F., Kannengiesser C., Beaumont C., Camaschella C., Grandchamp B.
    Blood 113:5605-5608(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TMPRSS6.
  9. Cited for: VARIANTS HFE2A PRO-85; ARG-99; ASP-168; SER-170; GLU-172; CYS-191; ARG-205; VAL-250; TRP-288 AND VAL-320.
  10. "Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin."
    Lee P.L., Beutler E., Rao S.V., Barton J.C.
    Blood 103:4669-4671(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HFE2A ARG-80; PRO-101; ASN-222 AND VAL-320.
  11. "Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis."
    Lee P.L., Barton J.C., Brandhagen D., Beutler E.
    Br. J. Haematol. 127:224-229(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HFE2A VAL-320 AND TRP-321.

Entry informationi

Entry nameiRGMC_HUMAN
AccessioniPrimary (citable) accession number: Q6ZVN8
Secondary accession number(s): B1ALI7
, Q2PQ63, Q6IMF6, Q8NAH2, Q8WVJ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: October 29, 2014
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
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 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3