HFE homeostatic iron regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: HFEprovided by HGNC
Official Full Name: homeostatic iron regulatorprovided by HGNC
Primary source: HGNC:HGNC:4886
See related: Ensembl:ENSG00000010704 MIM:613609; Vega:OTTHUMG00000016348
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HH; HFE1; HLA-H; MVCD7; TFQTL2
Summary: The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 5.0), gall bladder (RPKM 4.6) and 24 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 6p22.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	6	NC_000006.12 (26087281..26096216)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (26087422..26096438)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HFE mutation is associated with a lower level of aerobic capacity, even in the absence of iron accumulation.
Title: Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in the <i>HFE</i> Gene.
Three single nucleotide polymorphisms associated with iron regulation were genotyped in multiple sclerosis : two in the human hereditary hemochromatosis protein gene HFE: rs1800562 (C282Y mutation) and rs1799945 (H63D mutation), as well as the rs1049296 SNP in the transferrin gene (C2 mutation). We only observed a higher prevalence of TF-C2 in multiple sclerosis patients
Title: Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals.
The HFE gene including both coding and boundary intronic regions were sequenced and polymorphisms were identified in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload.
Title: HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.
homozygosity for the HLA-A*03 allele significantly increases the risk of excessive iron loading in Norwegian p.C282Y homozygous male patients.
Title: Iron loading in HFE p.C282Y homozygotes found by population screening: relationships to HLA-type and T-lymphocyte subsets.
genetic association studies in cohort of infants in Spain: Data suggest that serum hepcidin levels increase in infants during first year of life and are positively associated with iron status only in infants with wild-type HFE gene (not in infants with genetic polymorphisms C282Y, H63D, and S65C).
Title: Serum hepcidin levels, iron status, and HFE gene alterations during the first year of life in healthy Spanish infants.
HFE stability is pH-dependent.
Title: Effect of pH on the stability of hemochromatosis factor E: a combined spectroscopic and molecular dynamics simulation-based study.
Studies indicate that hemochromatosis protein (HFE) variants can positively influence the immune system and might even diminish the risk of developing diseases such as amyotrophic lateral sclerosis, Alzheimer's disease, Parkinson's disease, and atherosclerosis.
Title: Pathophysiological consequences and benefits of <i>HFE</i> mutations: 20 years of research.
unreported iron metabolism-related genes in non-classic hereditary hemochromatosis patients that were predicted to be potentially pathogenic were three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP gene (c.-25G>A)
Title: Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
GNPAT p.D519G is strongly associated with markedly increased iron stores in p.C282Y homozygotes after correction for age, iron-related variables, and alcohol consumption
Title: GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.
HFE p.C282Y homozygosity is significantly associated with lymphocyte and basophil counts
Title: White blood cells and subtypes in HFE p.C282Y and wild-type homozygotes in the Hemochromatosis and Iron Overload Screening Study.

Submit: New GeneRIF Correction See all GeneRIFs (495)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alzheimer's disease MedGen: C0002395 OMIM: 104300 GeneReviews: Alzheimer Disease Overview, Early-Onset Familial Alzheimer Disease	Compare labs
Familial porphyria cutanea tarda MedGen: C0268323 OMIM: 176100 GeneReviews: Familial Porphyria Cutanea Tarda, Hepatoerythropoietic Porphyria	Compare labs
Hemochromatosis type 1 MedGen: C3469186 OMIM: 235200 GeneReviews: HFE-Associated Hereditary Hemochromatosis	Compare labs
Microvascular complications of diabetes 7 MedGen: C2673520 OMIM: 612635 GeneReviews: Not available	Compare labs
Transferrin serum level quantitative trait locus 2 MedGen: C3280096 OMIM: 614193 GeneReviews: Not available	Compare labs
Variegate porphyria MedGen: C0162532 OMIM: 176200 GeneReviews: Variegate Porphyria	Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of red blood cell traits using the electronic medical record. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Discovery and refinement of loci associated with lipid levels. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study identifies genetic loci associated with iron deficiency. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Sequence variants in three loci influence monocyte counts and erythrocyte volume. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Myristoylation of HIV-1 Nef at position 2 and the PxxP proline-rich motif of Nef at positions 62-65 are required for Nef-induced downregulation of HFE; amino acid residue Y282 in HFE is involved in the downregulation by Nef	PubMed
	nef	HIV-1 Nef downregulates the macrophage-expressed MHC 1b protein HFE by rerouting HFE to a perinuclear structure that overlaps the trans-Golgi network, causing a 90% reduction of surface HFE	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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Hfe effect on hepcidin production, organism-specific biosystem (from WikiPathways)
Hfe effect on hepcidin production, organism-specific biosystemnew pathway, converted from mouse WP3673

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46796 (e-PCR)
- UniSTS:18176

PMC310725P1 (e-PCR)
- UniSTS:272644

D11S2921 (e-PCR)
- UniSTS:152074

STS-U60319 (e-PCR)
- UniSTS:47384

WI-17546 (e-PCR)
- UniSTS:30510

D6S2377 (e-PCR)
- UniSTS:57170

NoName (e-PCR)
- UniSTS:481902

D1S1423 (e-PCR)
- UniSTS:149619

PMC19311P1 (e-PCR)
- UniSTS:271747

HFE_3382 (e-PCR)
- UniSTS:462240

RH46637 (e-PCR)
- UniSTS:36001

A004R25 (e-PCR)
- UniSTS:41641

PMC196491P2 (e-PCR)
- UniSTS:271810

PMC196491P3 (e-PCR)
- UniSTS:271811

NoName (e-PCR)
- UniSTS:486126

Homology

Homologs of the HFE gene: The HFE gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 107 organisms have orthologs with human gene HFE
The Hierarchical Catalog of Orthologs

Clone Names

MGC103790, MGC:150812, dJ221C16.10.1, IMAGE:40125754

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
beta-2-microglobulin binding	IPI Inferred from Physical Interaction more info	PubMed
co-receptor binding	IPI Inferred from Physical Interaction more info	PubMed
natural killer cell lectin-like receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
NOT peptide antigen binding	IDA Inferred from Direct Assay more info	PubMed
NOT peptide antigen binding	IKR Inferred from Key Residues more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
transferrin receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
T cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acute-phase response	IEA Inferred from Electronic Annotation more info
NOT antigen processing and presentation	IC Inferred by Curator more info	PubMed
NOT antigen processing and presentation of peptide antigen via MHC class I	IKR Inferred from Key Residues more info	PubMed
cellular iron ion homeostasis	TAS Traceable Author Statement more info	PubMed
cellular response to iron ion	IGI Inferred from Genetic Interaction more info	PubMed
cellular response to iron ion starvation	IEA Inferred from Electronic Annotation more info
female pregnancy	IEA Inferred from Electronic Annotation more info
hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
immune response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
iron ion homeostasis	IC Inferred by Curator more info	PubMed
iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
iron ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
iron ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
liver regeneration	IEA Inferred from Electronic Annotation more info
multicellular organismal iron ion homeostasis	IEA Inferred from Electronic Annotation more info
natural killer cell activation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of CD8-positive, alpha-beta T cell activation	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of T cell antigen processing and presentation	IEA Inferred from Electronic Annotation more info
negative regulation of T cell cytokine production	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	IGI Inferred from Genetic Interaction more info	PubMed
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IC Inferred by Curator more info	PubMed
negative regulation of receptor binding	IDA Inferred from Direct Assay more info	PubMed
negative regulation of signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of ferrous iron binding	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of pathway-restricted SMAD protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of peptide hormone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein binding	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of receptor binding	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of receptor-mediated endocytosis	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of signaling receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of transferrin receptor binding	IGI Inferred from Genetic Interaction more info	PubMed
protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
regulation of iron ion import	IGI Inferred from Genetic Interaction more info	PubMed
regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
response to iron ion	IMP Inferred from Mutant Phenotype more info	PubMed
response to iron ion starvation	IEA Inferred from Electronic Annotation more info
susceptibility to natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transferrin transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
HFE-transferrin receptor complex	IDA Inferred from Direct Assay more info	PubMed
NOT MHC class I protein complex	IDA Inferred from Direct Assay more info	PubMed
NOT MHC class I protein complex	IKR Inferred from Key Residues more info	PubMed
apical part of cell	IDA Inferred from Direct Assay more info	PubMed
basal part of cell	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
early endosome	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed
integral component of plasma membrane	TAS Traceable Author Statement more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
recycling endosome	IDA Inferred from Direct Assay more info	PubMed
terminal web	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: hereditary hemochromatosis protein

Names: MHC class I-like protein HFE; hereditary hemochromatosis protein HLA-H; high Fe

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008720.2 RefSeqGene

Range

5001..12961

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_748

mRNA and Protein(s)

NM_000410.3 → NP_000401.1 hereditary hemochromatosis protein isoform 1 precursor

See identical proteins and their annotated locations for NP_000401.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform.

Source sequence(s)

AF115265, AJ249337, U91328

Consensus CDS

CCDS4578.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000417404.1, OTTHUMP00000215786, ENST00000357618.9, OTTHUMT00000356133

Conserved Domains (2) summary

cd07698
Location:206 → 298

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 202

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_001300749.1 → NP_001287678.1 hereditary hemochromatosis protein isoform 12 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (12) uses an alternate splice acceptor site at its 3'-terminal exon, compared to variant 1. This variant encodes isoform 12 which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AJ249337, AJ298840, AK300933, BC117201

Consensus CDS

CCDS75412.1

UniProtKB/Swiss-Prot

Q30201

UniProtKB/TrEMBL

B4DV50, F8W7W8

Related

ENSP00000311698.6, OTTHUMP00000215818, ENST00000309234.10, OTTHUMT00000356207

Conserved Domains (2) summary

cd07698
Location:206 → 298

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 202

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_139003.2 → NP_620572.1 hereditary hemochromatosis protein isoform 3 precursor

See identical proteins and their annotated locations for NP_620572.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 3).

Source sequence(s)

AF149804, AJ249335, U91328

Consensus CDS

CCDS47386.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000337819.8, OTTHUMP00000215793, ENST00000336625.12, OTTHUMT00000356143

Conserved Domains (2) summary

cd07698
Location:110 → 192

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 113

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_139004.2 → NP_620573.1 hereditary hemochromatosis protein isoform 4 precursor

See identical proteins and their annotated locations for NP_620573.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal in-frame segment of the coding region, compared to variant 1, resulting in a shorter protein (isoform 4).

Source sequence(s)

AJ249337, U91328

Consensus CDS

CCDS4579.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000313776.7, OTTHUMP00000215790, ENST00000317896.11, OTTHUMT00000356137

Conserved Domains (2) summary

cd07698
Location:114 → 206

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 113

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_139006.2 → NP_620575.1 hereditary hemochromatosis protein isoform 6 precursor

See identical proteins and their annotated locations for NP_620575.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 6).

Source sequence(s)

AF079407, AJ249335, U91328

Consensus CDS

CCDS54974.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000420802.1, OTTHUMP00000215816, ENST00000461397.5, OTTHUMT00000356202

Conserved Domains (2) summary

cd07698
Location:207 → 284

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 202

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_139007.2 → NP_620576.1 hereditary hemochromatosis protein isoform 7 precursor

See identical proteins and their annotated locations for NP_620576.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein isoform (7).

Source sequence(s)

AJ249336, U91328

Consensus CDS

CCDS4580.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000259699.6, OTTHUMP00000215788, ENST00000349999.8, OTTHUMT00000356135

Conserved Domains (2) summary

cd07698
Location:118 → 210

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 114

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_139008.2 → NP_620577.1 hereditary hemochromatosis protein isoform 8 precursor

See identical proteins and their annotated locations for NP_620577.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks two internal in-frame segments of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 8).

Source sequence(s)

AF079409, AJ249335, U91328

Consensus CDS

CCDS54975.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000420559.1, OTTHUMP00000215817, ENST00000488199.5, OTTHUMT00000356203

Conserved Domains (2) summary

cd07698
Location:119 → 196

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 114

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_139009.2 → NP_620578.1 hereditary hemochromatosis protein isoform 9 precursor

See identical proteins and their annotated locations for NP_620578.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks an internal in-frame segment of the coding region through the use of an alternate splice acceptor site, as compared to variant 1, resulting in a shorter protein (isoform 9).

Source sequence(s)

AJ249335, U91328

Consensus CDS

CCDS47387.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000380217.3, OTTHUMP00000215789, ENST00000397022.7, OTTHUMT00000356136

Conserved Domains (2) summary

cd07698
Location:183 → 275

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:23 → 179

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_139010.2 → NP_620579.1 hereditary hemochromatosis protein isoform 10 precursor

See identical proteins and their annotated locations for NP_620579.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks an internal in-frame segment of the coding region, as compared to variant 1, resulting in a shorter protein (isoform 10).

Source sequence(s)

AJ250635, U91328

Consensus CDS

CCDS4581.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000312342.5, OTTHUMP00000215791, ENST00000353147.9, OTTHUMT00000356138

Conserved Domains (1) summary

cd07698
Location:27 → 118

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
NM_139011.2 → NP_620580.1 hereditary hemochromatosis protein isoform 11 precursor

See identical proteins and their annotated locations for NP_620580.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks a large internal part of the coding region but the reading frame is maintained, as compared to variant 1. The protein encoded is the shortest isoform (11).

Source sequence(s)

AJ249338, U91328

Consensus CDS

CCDS4582.1

UniProtKB/Swiss-Prot

Q30201

Related

ENSP00000315936.4, OTTHUMP00000215787, ENST00000352392.8, OTTHUMT00000356134

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p12 Primary Assembly

Range

26087281..26096216

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514543.3 → XP_011512845.1 hereditary hemochromatosis protein isoform X1

Conserved Domains (2) summary

cd07698
Location:206 → 298

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cl08246
Location:27 → 202

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RNA

XR_241893.4 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_139002.2: Suppressed sequence

Description

NM_139002.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_139005.2: Suppressed sequence

Description

NM_139005.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.