HJV

Protein identityUniProt · HPA

UniProt accession

Q6ZVN8

Gene

HJV

Ensembl

ENSG00000168509

Chromosome

1

Canonical length

426 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

426 residues, UniProt reviewed canonical sequence.

>Q6ZVN8|HJV
     1  MGEPGQSPSP RSSHGSPPTL STLTLLLLLC GHAHSQCKIL RCNAEYVSST LSLRGGGSSG
    61  ALRGGGGGGR GGGVGSGGLC RALRSYALCT RRTARTCRGD LAFHSAVHGI EDLMIQHNCS
   121  RQGPTAPPPP RGPALPGAGS GLPAPDPCDY EGRFSRLHGR PPGFLHCASF GDPHVRSFHH
   181  HFHTCRVQGA WPLLDNDFLF VQATSSPMAL GANATATRKL TIIFKNMQEC IDQKVYQAEV
   241  DNLPVAFEDG SINGGDRPGG SSLSIQTANP GNHVEIQAAY IGTTIIIRQT AGQLSFSIKV
   301  AEDVAMAFSA EQDLQLCVGG CPPSQRLSRS ERNRRGAITI DTARRLCKEG LPVEDAYFHS
   361  CVFDVLISGD PNFTVAAQAA LEDARAFLPD LEKLHLFPSD AGVPLSSATL LAPLLSGLFV
   421  LWLCIQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HJV can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

554 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HJV.

Disease | AllUniProt

Conditions HJV is implicated in, by any mechanism.

• Hemochromatosis 2A (HFE2A) MIM:602390

Disease | GeneticClinVar

78 pathogenic / likely-pathogenic of 469 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hemochromatosis type 2A
• Hemochromatosis type 1
• Juvenile hemochromatosis
• HJV-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.88

gnomAD pLI

0

DepMap mean gene effect

-0.41

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• activin receptor signaling pathway
• BMP signaling pathway
• cellular response to BMP stimulus
• intracellular iron ion homeostasis
• multicellular organismal-level iron ion homeostasis
• negative regulation of BMP signaling pathway
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• protein autoprocessing
• transcription by RNA polymerase II

Molecular functions

• BMP binding
• coreceptor activity
• signaling receptor binding
• transferrin receptor binding

Cellular components

• BMP receptor complex
• cell surface
• extracellular space
• HFE-transferrin receptor complex
• plasma membrane
• plasma membrane protein complex
• side of membrane

Protein domainsUniProt · Pfam · InterPro

• Repulsive guidance molecule, C-terminal
• Repulsive guidance molecule, N-terminal
• Repulsive guidance molecule
• Repulsive guidance molecule (RGM) C-terminal domain
• Repulsive guidance molecule (RGM) N-terminal domain

KeywordsUniProt

• Autocatalytic cleavage
• Cell membrane
• Disulfide bond
• Glycoprotein
• GPI-anchor
• Lipoprotein
• Membrane
• Phosphoprotein
• Signal

InteractionsUniProt · HPA

Protein binding partners of HJV in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BMP2
• BMP4
• BMP6
• BMPR1B
• TMPRSS6