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HBQ1 Gene

protein-coding GIFtS: 49

GC16P000170

hemoglobin, theta 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
Theta-1-globin ^³

Descriptions
Hemoglobin theta-1 chain ^³
hemoglobin, theta 1 ^²
theta 1 globin ^²

External Ids
HGNC: 4833¹
Entrez Gene: 3049²
UniProtKB: P09105³
Ensembl: ENSG00000086506⁷

Search outside databases for aliases for HBQ1 gene

Previous GC identifer: GC16P000249

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HBQ1:

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]

Gene Wiki entry for HBQ1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HBQ1 gene

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

HBQ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P000170: (about GC identifiers)

Start:	170,335 bp from pter
End:	171,178 bp from pter
Size:	844 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000016.8 NT_037887.4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HBAT_HUMAN, P09105 (See protein sequence)

Recommended Name: Hemoglobin subunit theta-1

Size: 142 amino acids; 15508 Da

Secondary accessions: Q13723 Q1W6G5

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_005322.1

ENSEMBL proteins:

ENSP00000199708

Human Recombinant Proteins

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	Sigma-Aldrich Proteins for HBQ1
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	Human Recombinant Proteins from Abnova (HBQ1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005833	hemoglobin complex	TAS	7555018

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Antibodies for HBQ1:

	Browse Antibodies Central at Invitrogen
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	Monoclonal and Polyclonal Antibodies from Abnova (HBQ1)
	Novus Biologicals Antibody for HBQ1

Assays for HBQ1:

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	Browse R&D Systems for biochemical assays
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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P09105

ProtoNet protein and cluster: P09105

2 Blocks protein families:

IPB002338 Alpha haemoglobin signature

IPB002339 Pi haemoglobin signature

UniProtKB/Swiss-Prot: HBAT_HUMAN, P09105

Similarity: Belongs to the globin family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HBQ1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HBQ1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005331

Applied Biosystems Silencer® siRNAs for HBQ1

Sigma-Aldrich siRNA for HBQ1

Sigma-Aldrich shRNA for HBQ1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_005331
Myc/DDK tagged cDNA clone in CMV expression vector: NM_005331
untagged cDNA clone in CMV expression vector: NM_005331

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_005331

Genatlas biochemistry entry for HBQ1:

hemoglobin,theta 1,embryonic

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005344	oxygen transporter activity	IEA	--
GO:0019825	oxygen binding	IEA	--
GO:0020037	heme binding	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/7 Interacting proteins for HBQ1 (ENSP00000199708³) via UniProtKB, MINT, and/or STRING (see all 7 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NGB	ENSP00000298352³	STRING (score=.959)
ERAF	ENSP00000307199³	STRING (score=.941)
HBG1	ENSP00000369606³	STRING (score=.908)
HBZ	ENSP00000252951³	STRING (score=.904)
CYB5R3	ENSP00000338461³	STRING (score=.901)

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	IEA	--
GO:0015671	oxygen transport	TAS	7555018

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HBQ1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HBQ1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HBQ1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005331

Sigma-Aldrich siRNA for HBQ1

Sigma-Aldrich shRNA for HBQ1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005331

REFSEQ mRNAs for HBQ1 gene:

NM_005331.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005331

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005331
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005331
                                 untagged cDNA clone in CMV expression vector: NM_005331

Additional cDNA sequence: BC056686.1

1 DOTS entry:

DT.424549

10 AceView cDNA sequences:

NM_005331 BG944234 BC056686 BM479599 BU602381 CD580449 BU599657 AA643205

AA860203 AA679786

highest scoring ESTs for HBQ1:

AA860203 BC056686 BM479599 BU599657 BU602381 AA643205 BU959982 CD580449 NM_005331 BG944234

Unigene Cluster for HBQ1:

Hemoglobin, theta 1

Hs.247921 [show with all ESTs]

Unigene Representative Sequence: BM479599

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000199708

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HBQ1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HBQ1

¹ / ² / ³

2 probe-sets matching HBQ1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
220807_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005331	0.60	1.00	0.82	1
220807_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.247921

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HBQ1 gene from 1 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
mouse (Mus musculus)	Hbq1⁵ F830116E18Rik¹	11⁵	hemoglobin, theta 1⁵ RIKEN cDNA F830116E18 gene¹	75.12(n)¹ 75.35(a)¹	544763¹ NM_001033981.2¹ NP_001029153.1¹ AK039049⁵ AL662780⁵ (see all 7)

About this table Species with no ortholog for HBQ1

ENSEMBL Gene Tree for HBQ1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for HBQ1 gene

HBA1² HBZ² HBM² HBZP² HBA2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/20 NCBI SNPs in HBQ1 are shown (see all 20 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 20)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs3888374^1,2	A,C,F	171550(+)	`GGCTGA/GCTCGG`	1	--	ng3¹		1		MN	184
--	rs6600165^1,2	A,C	170316(+)	`GGGCCC/GCGGTC`	1	--	ng5¹		0	--	--	--	--
--	rs11643139^1,2	H	170206(+)	`tggcgC/Tcactg`	1	--	ng5¹		4		EU EA WA	418
	rs1005364^1,2	F	170481(+)	`CAGCGG/CGGGGA`	1	--	ut5¹ ese³		1		MN	184
	rs1203834^1,2	F	171541(-)	`CCCCGA/GGCCCT`	1	--	ng3¹		1		MN	184
	rs3929997^1,2	C	171167(+)	`AGCCTC/TTCCCA`	1	--	ut3¹ ese³		0	--	--	--	--
	rs3901187^1,2	--	170317(+)	`GGCCCA/CGGTCG`	1	--	ng5¹		0	--	--	--	--
--	rs11303934^1,2	--	168924(+)	`GTCTC-/AAAAAA`	1	--	ng5¹		0	--	--	--	--
--	rs68008033^1,2	--	169189(+)	`AGAGGC/TTGCAG`	1	--	ng5¹		0	--	--	--	--
--	rs56943372^1,2	--	169257(+)	`CAAAAA/GAAATT`	1	--	ng5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for HBQ1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 142240

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10 PubMed articles for HBQ1 gene:

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641)^{3, 4} De Gobbi M.... Higgs D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)^{3, 4} Daniels R.J....Higgs D.R. (2001)
Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters. (PubMed id 2569721)^{3, 4} Kim J.H.... Shen C.-K.J. (1989)
A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)^{2, 3} Higgs D.R....Weatherall D.J. (1989)
Nucleotide sequence of the human theta 1-globin gene. (PubMed id 3408475)^{3, 4} Gonzalez-Redondo J.M.... Huisman T.H.J. (1988)
Structure and expression of the human theta 1 globin gene. (PubMed id 3422341)^{3, 4} Hsu S.-L....Shen C.-K.J. (1988)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
The multiple functions of hemoglobin. (PubMed id 7555018)³ Giardina B....Castagnola M. (1995)
Globin gene expression in erythroid human fetal liver cells. (PubMed id 2921315)³ Ley T.J....Schwartz A.L. (1989)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 3049	HGNC: 4833	AceView: HBQ1	Ensembl:ENSG00000086506	euGenes: HUgn3049
ECgene: HBQ1	H-InvDB: HBQ1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for HBQ1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for HBQ1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HBQ1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
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	"Your Favorite Gene" Pathways		feedback

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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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HBQ1 Gene

protein-coding GIFtS: 49

Aliases &
Descriptions
for HBQ1

Summaries
for HBQ1

Genomic Location
for HBQ1

Proteins
for HBQ1

Protein Domains/
Families
for HBQ1

Gene Function
for HBQ1

Pathways & Interactions
for HBQ1

Drugs & Compounds
for HBQ1

Transcripts
for HBQ1

Expression
for HBQ1

Orthologs
for HBQ1

Paralogs
for HBQ1

SNPs/Variants
for HBQ1

Disorders & Mutations
for HBQ1

Medical News
for HBQ1

Publications
for HBQ1

Search for HBQ1

Genome Databases showing HBQ1

Other Databases showing HBQ1

Specialized Databases showing HBQ1

Licensable Technologies
for HBQ1

Services
for HBQ1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HBQ1 Gene

protein-coding GIFtS: 49

Aliases & Descriptionsfor HBQ1

Summariesfor HBQ1

Genomic Locationfor HBQ1

Proteinsfor HBQ1

Protein Domains/Familiesfor HBQ1

Gene Functionfor HBQ1

Pathways & Interactionsfor HBQ1

Drugs & Compoundsfor HBQ1

Transcriptsfor HBQ1

Expression for HBQ1

Orthologsfor HBQ1

Paralogsfor HBQ1

SNPs/Variantsfor HBQ1

Disorders & Mutationsfor HBQ1

Medical Newsfor HBQ1

Publicationsfor HBQ1

Search for HBQ1

Genome Databases showing HBQ1

Other Databases showing HBQ1

Specialized Databases showing HBQ1

Licensable Technologiesfor HBQ1

Servicesfor HBQ1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HBQ1

Summaries
for HBQ1

Genomic Location
for HBQ1

Proteins
for HBQ1

Protein Domains/
Families
for HBQ1

Gene Function
for HBQ1

Pathways & Interactions
for HBQ1

Drugs & Compounds
for HBQ1

Transcripts
for HBQ1

Expression
for HBQ1

Orthologs
for HBQ1

Paralogs
for HBQ1

SNPs/Variants
for HBQ1

Disorders & Mutations
for HBQ1

Medical News
for HBQ1

Publications
for HBQ1

Licensable Technologies
for HBQ1

Services
for HBQ1