HBG1 hemoglobin subunit gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBG1provided by HGNC
Official Full Name: hemoglobin subunit gamma 1provided by HGNC
Primary source: HGNC:HGNC:4831
See related: Ensembl:ENSG00000213934 MIM:142200; AllianceGenome:HGNC:4831
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: HBGA; HBGR; HBG-T2; HSGGL1; PRO2979
Summary: The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
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Genomic context

Location:: 11p15.4

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5248269..5249857, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5307634..5309208, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5269499..5271087, complement)

Chromosome 11 - NC_000011.10 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?

Activation of gamma-globin expression by LncRNA-mediated ERF promoter hypermethylation in beta-thalassemia.
Title: Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.
Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.
Title: Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.
Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
Title: Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the gamma-globin gene promoters.
Title: TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the γ-globin gene promoters.
Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
Title: Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
Activation of gamma-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.
Title: Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.
A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the gamma-globin gene in beta-thalassemia.
Title: A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in β-thalassemia.
Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.
Title: Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.
Long noncoding RNA HBBP1 enhances gamma-globin expression through the ETS transcription factor ELK1.
Title: Long noncoding RNA HBBP1 enhances γ-globin expression through the ETS transcription factor ELK1.
ATF4 Regulates MYB to Increase gamma-Globin in Response to Loss of beta-Globin.
Title: ATF4 Regulates MYB to Increase γ-Globin in Response to Loss of β-Globin.

Submit: New GeneRIF Correction See all GeneRIFs (72)

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
Hereditary persistence of fetal hemoglobin MedGen: C0019025 OMIM: 141749 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. 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

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
Tat	tat	HIV-1 Tat inhibits the butyric acid-induced gamma-globin gene expression in human hematopoietic progenitor K562 cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008Q26 (e-PCR)
- UniSTS:25361

ECD11848 (e-PCR)
- UniSTS:292881

REN97447 (e-PCR)
- UniSTS:422245

REN97448 (e-PCR)
- UniSTS:422246

REN97449 (e-PCR)
- UniSTS:422247

REN97450 (e-PCR)
- UniSTS:422248

REN97451 (e-PCR)
- UniSTS:422249

ECD07567 (e-PCR)
- UniSTS:288618

REN97452 (e-PCR)
- UniSTS:422250

REN97453 (e-PCR)
- UniSTS:422251

ECD07826 (e-PCR)
- UniSTS:288876

REN97454 (e-PCR)
- UniSTS:422252

REN97455 (e-PCR)
- UniSTS:422253

REN97456 (e-PCR)
- UniSTS:422254

REN97457 (e-PCR)
- UniSTS:422255

REN97458 (e-PCR)
- UniSTS:422256

REN97459 (e-PCR)
- UniSTS:422257

REN97467 (e-PCR)
- UniSTS:422265

REN97469 (e-PCR)
- UniSTS:422267

ECD08374 (e-PCR)
- UniSTS:289422

ECD22782 (e-PCR)
- UniSTS:303767

stSG610846 (e-PCR)
- UniSTS:448965

RH11785 (e-PCR)
- UniSTS:79308

ECD08204 (e-PCR)
- UniSTS:289252

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables hemoglobin alpha binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables organic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in carbon dioxide transport	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxygen transport	IDA Inferred from Direct Assay more info	PubMed
involved_in oxygen transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: hemoglobin subunit gamma-1

Names: A-gamma globin; fetal hemoglobin F subunit gamma 1; gamma A hemoglobin; gamma globin; gamma-1-globin; hb F Agamma; hemoglobin gamma-1 chain; hemoglobin gamma-a chain; hemoglobin, gamma A; hemoglobin, gamma, regulator of

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.