HBQ1 hemoglobin subunit theta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBQ1provided by HGNC
Official Full Name: hemoglobin subunit theta 1provided by HGNC
Primary source: HGNC:HGNC:4833
See related: Ensembl:ENSG00000086506 MIM:142240; AllianceGenome:HGNC:4833
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: HBQ
Summary: Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]
Orthologs: all
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (180459..181179)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (174501..175221)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (230458..231178)

Chromosome 16 - NC_000016.10 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?

2 new Spanish alpha-thalassemia mutations were found. In both mutations, both alpha genes were deleted, the gene theta; and the region HS40.
Title: [Molecular characterization of two new mutations of α° thalassemia in two Spanish families (mutation --(ED) and --(GP))].

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70814 (e-PCR)
- UniSTS:49472

ECD18394 (e-PCR)
- UniSTS:299405

ECD16105 (e-PCR)
- UniSTS:297120

REN94980 (e-PCR)
- UniSTS:419778

REN94981 (e-PCR)
- UniSTS:419779

REN94982 (e-PCR)
- UniSTS:419780

REN94983 (e-PCR)
- UniSTS:419781

REN94984 (e-PCR)
- UniSTS:419782

REN94985 (e-PCR)
- UniSTS:419783

REN94986 (e-PCR)
- UniSTS:419784

REN94987 (e-PCR)
- UniSTS:419785

REN94988 (e-PCR)
- UniSTS:419786

REN94989 (e-PCR)
- UniSTS:419787

REN94990 (e-PCR)
- UniSTS:419788

REN94991 (e-PCR)
- UniSTS:419789

REN94992 (e-PCR)
- UniSTS:419790

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 iron 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
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: hemoglobin subunit theta-1

Names: hemoglobin theta-1 chain; hemoglobin, theta 1; theta-1-globin

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.