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; AllianceGenome:HGNC:4886
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. [provided by RefSeq, May 2022]
Expression: Ubiquitous expression in thyroid (RPKM 5.0), gall bladder (RPKM 4.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (26087429..26098343)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (25955571..25966491)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (26087657..26098571)

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

beta2-microglobulin induced apoptosis of tumor cells via the ERK signaling pathway by directly interacting with HFE in HER2-overexpressing breast cancer.
Title: β2-microglobulin induced apoptosis of tumor cells via the ERK signaling pathway by directly interacting with HFE in HER2-overexpressing breast cancer.
Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C.
Title: Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C.
Clinical characteristics of HFE C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from HFE C282Y homozygotes.
Title: Clinical characteristics of HFE C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from HFE C282Y homozygotes.
Serum ferritin level is associated with liver fibrosis and incident liver-related outcomes independent of HFE genotype in the general population.
Title: Serum ferritin level is associated with liver fibrosis and incident liver-related outcomes independent of HFE genotype in the general population.
Hereditary hemochromatosis with homozygous C282Y HFE mutation: possible clinical model to assess effects of elevated reactive oxygen species on the development of cardiovascular disease.
Title: Hereditary hemochromatosis with homozygous C282Y HFE mutation: possible clinical model to assess effects of elevated reactive oxygen species on the development of cardiovascular disease.
HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank.
Title: HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank.
Penetrance, cancer incidence and survival in HFE haemochromatosis-A population-based cohort study.
Title: Penetrance, cancer incidence and survival in HFE haemochromatosis-A population-based cohort study.
Height of non-Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt.
Title: Height of non-Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt.
Risk Effects of rs1799945 Polymorphism of the HFE Gene and Intergenic Interactions of GWAS-Significant Loci for Arterial Hypertension in the Caucasian Population of Central Russia.
Title: Risk Effects of rs1799945 Polymorphism of the HFE Gene and Intergenic Interactions of GWAS-Significant Loci for Arterial Hypertension in the Caucasian Population of Central Russia.
Risk of Hepatocellular Carcinoma in Patients with Various HFE Genotypes.
Title: Risk of Hepatocellular Carcinoma in Patients with Various HFE Genotypes.

Submit: New GeneRIF Correction See all GeneRIFs (571)

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
Hemochromatosis type 1 MedGen: C3469186 OMIM: 235200 GeneReviews: HFE-Related Hemochromatosis	not available

EBI GWAS Catalog

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

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

Clone Names

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

Gene Ontology Provided by GOA

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

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

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

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_000410.4 → 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)

U91328

Consensus CDS

CCDS4578.1

UniProtKB/Swiss-Prot

B2CKL0, O75929, O75930, O75931, Q17RT0, Q30201, Q96KU5, Q96KU6, Q96KU7, Q96KU8, Q9HC64, Q9HC68, Q9HC70, Q9HC83

UniProtKB/TrEMBL

B4DV50

Related

ENSP00000417404.1, ENST00000357618.10

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_001300749.3 → 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)

U91328

Consensus CDS

CCDS75412.1

UniProtKB/TrEMBL

B4DV50, F8W7W8

Related

ENSP00000311698.6, ENST00000309234.11

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_001384164.1 → NP_001371093.1 hereditary hemochromatosis protein isoform 13 precursor

Status: REVIEWED

Source sequence(s)

U91328

UniProtKB/TrEMBL

B4DV50, H7C4K4

Related

ENSP00000417534.2, ENST00000485729.2

Conserved Domains (2) summary

cd21021
Location:204 → 297

IgC1_MHC_Ib_HLA-H; Class Ib major histocompatibility complex (MHC) immunoglobulin domain of human leukocyte antigen H; member of the C1-set of Ig superfamily (IgSF) domains

cl08246
Location:27 → 202

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_001406751.1 → NP_001393680.1 hereditary hemochromatosis protein isoform 14 precursor

Status: REVIEWED

Source sequence(s)

U91328

UniProtKB/TrEMBL

B4DV50, Q6B0J5

Related

ENSP00000419725.1, ENST00000470149.5
NM_001406752.1 → NP_001393681.1 hereditary hemochromatosis protein isoform 15 precursor

Status: REVIEWED

Source sequence(s)

U91328

UniProtKB/TrEMBL

Q86WL1
NM_139003.3 → 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/TrEMBL

K0IIP4

Related

ENSP00000337819.8, ENST00000336625.12

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_139004.3 → 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/TrEMBL

K0IIP4

Related

ENSP00000313776.7, ENST00000317896.11

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_139006.3 → 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, U91328

Consensus CDS

CCDS54974.1

UniProtKB/TrEMBL

B4DV50

Related

ENSP00000420802.1, ENST00000461397.6

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_139007.3 → 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/TrEMBL

Q86WL1

Related

ENSP00000259699.6, ENST00000349999.8

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_139008.3 → 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, U91328

Consensus CDS

CCDS54975.1

UniProtKB/TrEMBL

Q86WL1

Related

ENSP00000420559.1, ENST00000488199.5

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_139009.3 → 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/TrEMBL

B4DV50

Related

ENSP00000380217.3, ENST00000397022.7

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_139010.3 → 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, ENST00000353147.9

Conserved Domains (1) summary

cd07698
Location:27 → 118

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
NM_139011.3 → 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, ENST00000352392.8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

26087429..26098343

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_241893.5 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

25955571..25966491

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_008487320.1 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.