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Protein

Hemojuvelin

Gene

HJV

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • BMP binding Source: BHF-UCL
  • coreceptor activity Source: BHF-UCL
  • signaling receptor binding Source: BHF-UCL
  • transferrin receptor binding Source: BHF-UCL

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-373752 Netrin-1 signaling

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
HemojuvelinCurated
Alternative name(s):
Hemochromatosis type 2 protein
Hemojuvelin BMP coreceptorCurated
RGM domain family member C
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HJVImported
Synonyms:HFE2, RGMC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000168509.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4887 HJV

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608374 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZVN8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hemochromatosis 2A (HFE2A)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:602390
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01961780C → R in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs28940586EnsemblClinVar.1
Natural variantiVAR_01961885S → P in HFE2A. 1 Publication1
Natural variantiVAR_01961999G → R in HFE2A. 1 Publication1
Natural variantiVAR_019620101L → P in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs74315327EnsemblClinVar.1
Natural variantiVAR_019621168A → D in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs782125244Ensembl.1
Natural variantiVAR_019622170F → S in HFE2A. 1 Publication1
Natural variantiVAR_019623172D → E in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs782708481Ensembl.1
Natural variantiVAR_019624191W → C in HFE2A. 1 Publication1
Natural variantiVAR_019625205S → R in HFE2A. 1 Publication1
Natural variantiVAR_019626222I → N in HFE2A. 2 PublicationsCorresponds to variant dbSNP:rs74315325EnsemblClinVar.1
Natural variantiVAR_019627250G → V in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs863224819EnsemblClinVar.1
Natural variantiVAR_019628288R → W in HFE2A. 1 Publication1
Natural variantiVAR_019629320G → V in HFE2A. 4 PublicationsCorresponds to variant dbSNP:rs74315323EnsemblClinVar.1
Natural variantiVAR_019927321C → W in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs121434374Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
148738

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
HJV

MalaCards human disease database

More...
MalaCardsi
HJV
MIMi602390 phenotype

Open Targets

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OpenTargetsi
ENSG00000168509

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79230 Hemochromatosis type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29264

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HFE2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
51316254

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 35Sequence analysisAdd BLAST35
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003039836 – 400HemojuvelinAdd BLAST365
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000030399401 – 426Removed in mature formSequence analysisAdd BLAST26

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei46PhosphotyrosineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi118N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi148 ↔ 230By similarity
Disulfide bondi167 ↔ 317By similarity
Glycosylationi213N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi372N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi400GPI-anchor amidated aspartateSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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 similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei172 – 173Cleavage; by autolysisBy similarity2

Keywords - PTMi

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

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6ZVN8

PeptideAtlas

More...
PeptideAtlasi
Q6ZVN8

PRoteomics IDEntifications database

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PRIDEi
Q6ZVN8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68432
68433 [Q6ZVN8-2]
68434 [Q6ZVN8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZVN8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q6ZVN8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168509 Expressed in 92 organ(s), highest expression level in quadriceps femoris

CleanEx database of gene expression profiles

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CleanExi
HS_HFE2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZVN8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZVN8 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

Database of interacting proteins

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DIPi
DIP-61608N

Protein interaction database and analysis system

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IntActi
Q6ZVN8, 5 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000337014

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1426
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q6ZVN8

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q6ZVN8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi64 – 78Poly-GlyAdd BLAST15
Compositional biasi127 – 130Poly-Pro4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFAH Eukaryota
ENOG410ZT7E LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156174

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013072

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG057627

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6ZVN8

KEGG Orthology (KO)

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KOi
K06847

Identification of Orthologs from Complete Genome Data

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OMAi
APDPCDY

Database of Orthologous Groups

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OrthoDBi
EOG091G0NF6

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZVN8

TreeFam database of animal gene trees

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TreeFami
TF329836

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.1000.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR033606 Hemojuvelin
IPR016123 Mog1/PsbP_a/b/a-sand
IPR040287 RGM
IPR009496 RGM_C
IPR010536 RGM_N

The PANTHER Classification System

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PANTHERi
PTHR31428 PTHR31428, 1 hit
PTHR31428:SF3 PTHR31428:SF3, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF06534 RGM_C, 1 hit
PF06535 RGM_N, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W6J7F8W6J7_HUMAN
Hemojuvelin
HJV
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RR55A0A0U1RR55_HUMAN
Hemojuvelin
HJV
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti69G → GG in ABC40718 (Ref. 3) Curated1
Sequence conflicti299K → E in BAC03944 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01961780C → R in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs28940586EnsemblClinVar.1
Natural variantiVAR_01961885S → P in HFE2A. 1 Publication1
Natural variantiVAR_01961999G → R in HFE2A. 1 Publication1
Natural variantiVAR_019620101L → P in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs74315327EnsemblClinVar.1
Natural variantiVAR_019621168A → D in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs782125244Ensembl.1
Natural variantiVAR_019622170F → S in HFE2A. 1 Publication1
Natural variantiVAR_019623172D → E in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs782708481Ensembl.1
Natural variantiVAR_019624191W → C in HFE2A. 1 Publication1
Natural variantiVAR_019625205S → R in HFE2A. 1 Publication1
Natural variantiVAR_019626222I → N in HFE2A. 2 PublicationsCorresponds to variant dbSNP:rs74315325EnsemblClinVar.1
Natural variantiVAR_019627250G → V in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs863224819EnsemblClinVar.1
Natural variantiVAR_019628288R → W in HFE2A. 1 Publication1
Natural variantiVAR_053636310A → G. Corresponds to variant dbSNP:rs7540883EnsemblClinVar.1
Natural variantiVAR_019629320G → V in HFE2A. 4 PublicationsCorresponds to variant dbSNP:rs74315323EnsemblClinVar.1
Natural variantiVAR_019927321C → W in HFE2A. 1 PublicationCorresponds to variant dbSNP:rs121434374Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0113201 – 226Missing in isoform c. 1 PublicationAdd BLAST226
Alternative sequenceiVSP_0113191 – 113Missing in isoform b. 2 PublicationsAdd BLAST113

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS72877.1 [Q6ZVN8-3]
CCDS72878.1 [Q6ZVN8-2]
CCDS72879.1 [Q6ZVN8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001303696.1, NM_001316767.1 [Q6ZVN8-3]
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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.632436

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000336751; ENSP00000337014; ENSG00000168509 [Q6ZVN8-1]
ENST00000357836; ENSP00000350495; ENSG00000168509 [Q6ZVN8-2]
ENST00000475797; ENSP00000425716; ENSG00000168509 [Q6ZVN8-3]
ENST00000497365; ENSP00000421820; ENSG00000168509 [Q6ZVN8-3]
ENST00000636675; ENSP00000490072; ENSG00000168509 [Q6ZVN8-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
148738

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:148738

UCSC genome browser

More...
UCSCi
uc001eni.3 human [Q6ZVN8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS72877.1 [Q6ZVN8-3]
CCDS72878.1 [Q6ZVN8-2]
CCDS72879.1 [Q6ZVN8-1]
RefSeqiNP_001303696.1, NM_001316767.1 [Q6ZVN8-3]
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]
UniGeneiHs.632436

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4UI1X-ray2.35C/D35-145[»]
ProteinModelPortaliQ6ZVN8
SMRiQ6ZVN8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-61608N
IntActiQ6ZVN8, 5 interactors
STRINGi9606.ENSP00000337014

PTM databases

iPTMnetiQ6ZVN8
PhosphoSitePlusiQ6ZVN8

Polymorphism and mutation databases

BioMutaiHFE2
DMDMi51316254

Proteomic databases

PaxDbiQ6ZVN8
PeptideAtlasiQ6ZVN8
PRIDEiQ6ZVN8
ProteomicsDBi68432
68433 [Q6ZVN8-2]
68434 [Q6ZVN8-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
148738
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336751; ENSP00000337014; ENSG00000168509 [Q6ZVN8-1]
ENST00000357836; ENSP00000350495; ENSG00000168509 [Q6ZVN8-2]
ENST00000475797; ENSP00000425716; ENSG00000168509 [Q6ZVN8-3]
ENST00000497365; ENSP00000421820; ENSG00000168509 [Q6ZVN8-3]
ENST00000636675; ENSP00000490072; ENSG00000168509 [Q6ZVN8-3]
GeneIDi148738
KEGGihsa:148738
UCSCiuc001eni.3 human [Q6ZVN8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
148738
DisGeNETi148738
EuPathDBiHostDB:ENSG00000168509.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HJV
GeneReviewsiHJV
HGNCiHGNC:4887 HJV
MalaCardsiHJV
MIMi602390 phenotype
608374 gene
neXtProtiNX_Q6ZVN8
OpenTargetsiENSG00000168509
Orphaneti79230 Hemochromatosis type 2
PharmGKBiPA29264

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFAH Eukaryota
ENOG410ZT7E LUCA
GeneTreeiENSGT00940000156174
HOGENOMiHOG000013072
HOVERGENiHBG057627
InParanoidiQ6ZVN8
KOiK06847
OMAiAPDPCDY
OrthoDBiEOG091G0NF6
PhylomeDBiQ6ZVN8
TreeFamiTF329836

Enzyme and pathway databases

ReactomeiR-HSA-373752 Netrin-1 signaling

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Hemojuvelin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
148738

Protein Ontology

More...
PROi
PR:Q6ZVN8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168509 Expressed in 92 organ(s), highest expression level in quadriceps femoris
CleanExiHS_HFE2
ExpressionAtlasiQ6ZVN8 baseline and differential
GenevisibleiQ6ZVN8 HS

Family and domain databases

Gene3Di3.40.1000.10, 1 hit
InterProiView protein in InterPro
IPR033606 Hemojuvelin
IPR016123 Mog1/PsbP_a/b/a-sand
IPR040287 RGM
IPR009496 RGM_C
IPR010536 RGM_N
PANTHERiPTHR31428 PTHR31428, 1 hit
PTHR31428:SF3 PTHR31428:SF3, 1 hit
PfamiView protein in Pfam
PF06534 RGM_C, 1 hit
PF06535 RGM_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRGMC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ZVN8
Secondary accession number(s): B1ALI7
, Q2PQ63, Q6IMF6, Q8NAH2, Q8WVJ5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: December 5, 2018
This is version 137 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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