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Aliases & Descriptions for HBG1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| Gamma-1-globin 3 | | HBGA 2 | | HBGR 2 | | HSGGL1 2 | | PRO2979 2 |
| | | Descriptions |
|---|
| A-gamma globin 2 | | Hb F Agamma 3 | | Hemoglobin gamma-1 chain 3 | | Hemoglobin gamma-A chain 2, 3 | | gamma A hemoglobin 2 | | gamma globin 2 | | hemoglobin, gamma A 2 | | hemoglobin, gamma, regulator of 2 |
|
| | Search outside databases for aliases for HBG1 genePrevious GC identifers: GC11M006017 GC11M005571 GC11M005228 GC11M005215 GC11M005234 |
Summaries for HBG1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for HBG1: 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] UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chainsGene Wiki entry for HBG1 |
Genomic Location for HBG1
(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 HBG1 gene 
Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.4 HGNC cytogenetic band: 11p15.5HBG1 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 11 GeneLoc Exon Structure GeneLoc location for GC11M005226:
(about GC identifiers)
Start:
|
5,226,078 bp from pter |
End:
|
5,227,693 bp from pter |
Size:
|
1,616 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000011.8 NT_009237.17
| Proteins for HBG1
(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)
About This Section
| UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891 (See
protein sequence)Recommended Name: Hemoglobin subunit gamma-1 Size: 147 amino acids; 16140 Da
Subunit: Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F). In the case of deletions affecting one or more of the alpha chains the excess gamma chains form homotetramers that exhibit neither Bohr effect nor heme-heme cooperativity (hemoglobin Bart's)
Developmental stage: Expressed until four or five weeks after birth
PDB structure from and Proteopedia :1I3D (3D)
 1I3E (3D)
 
Secondary accessions: P02096 P62027 Q96FH7Post-translational modifications:
Acetylation of Gly-2 converts Hb F to the minor Hb F11
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000550.2
ENSEMBL proteins: ENSP00000369606 ENSP00000327431
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: HBG1 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005833 | hemoglobin complex |
IEA | -- | About this table
Antibodies for HBG1: Assays for HBG1: | Protein
Domains/ Families for HBG1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P69891
ProtoNet protein and cluster: P69891 2 Blocks protein families: IPB001032 Leghaemoglobin IPB002337 Beta haemoglobin signature
UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891Similarity: Belongs to the globin family | Gene Function for HBG1
(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.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000559
Applied Biosystems Silencer® siRNAs for HBG1
Sigma-Aldrich siRNA for HBG1  Sigma-Aldrich shRNA for HBG1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000559                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000559                                  untagged cDNA clone in CMV expression vector: NM_000559 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000559
UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891Function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chainsGenatlas biochemistry entry for HBG1:globin,gamma A,fetal (A 136)5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for HBG1
(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.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for HBG1 
5/57 Interacting proteins for HBG1 (ENSP000003696063 P698911) via UniProtKB, MINT, and/or STRING (see all 57
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for HBG1(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 Tocris compounds for HBG1 10/14 Novoseek chemical compound relationships for HBG1 gene (see all 14
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| aclacinomycin |
79.99 |
2 |
8853898 (1), 8602880 (1) |
| alpha-aminobutyric acid |
69.71 |
3 |
7527673 (1), 8704217 (1) |
| benzidine |
63.37 |
6 |
17957275 (1), 17355941 (1) |
| porphobilinogen |
59.93 |
7 |
9305615 (2), 8639908 (1), 14757314 (1), 8853898 (1) (see all 6) |
| 5-aminolevulinic acid |
37.80 |
1 |
15958056 (1) |
| fatty acid |
21.11 |
6 |
7579419 (2), 12687749 (1), 11342457 (1), 12393583 (1) |
| glyceraldehyde 3-phosphate |
21.02 |
2 |
12738678 (1), 12864948 (1) |
| leucine |
8.33 |
1 |
8537230 (1) |
| zinc |
3.66 |
3 |
7624127 (1), 15537646 (1), 16131492 (1) |
| iron |
0.14 |
4 |
8318917 (1), 8874195 (1) |
About this table
|
Transcripts for HBG1(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000559
Sigma-Aldrich siRNA for HBG1  Sigma-Aldrich shRNA for HBG1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000559 REFSEQ mRNAs for HBG1 gene: NM_000559.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000559               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000559                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000559                                  untagged cDNA clone in CMV expression vector: NM_000559  Additional cDNA sequence: BC010913.1 BC010914.1 BC020719.1 CR593382.1 CR594720.1 CR596479.1 CR604256.1 CR608640.1 CR608786.1 CR609411.1 CR614139.1 CR619706.1 CR619879.1 CR619938.1 CR620360.1 CR621032.1 CR622267.1 CR625875.1 CR626236.1 CR626417.1 CR626466.1 V00512.1 X55655.1 24/27 DOTS entries (see all 27
): DT.95221675 DT.95186195 DT.98083189 DT.91786228 DT.91790886 DT.100890392 DT.95230852 DT.95298167 DT.100044348 DT.95180915 DT.100774732 DT.75131589 DT.95371917 DT.91866943 DT.120723250 DT.95233683 DT.95323075 DT.120723406 DT.100806001 DT.87014143 DT.95092533 DT.95345553 DT.92413533 DT.120723246 24/50 AceView cDNA sequences (see all 50
):CR602897 CR613883 CR593470 CR593022 CR610392 CR625875 CR614139 CR607395 NM_000184 NM_000559 CR593357 CR599317 CR613701 CR593826 CR595535 CR622267 CR594576 X55657 CR626417 CR609361 CR603041 CR604223 CR615907 CR595029
highest scoring ESTs for HBG1:AI114668 AI174737 BC010913 BI909241 BX506698 N80535 AA089607 AA094889 AA095627 AA294906 Unigene Cluster for HBG1: Hemoglobin, gamma A Hs.712539 [show with all ESTs]Unigene Representative Sequence: BI909241
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000380256
ENST00000330597
|
Expression for HBG1
(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
| HBG1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for HBG1
1 / 2 / 3 7 probe-sets matching HBG1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: ATGCAGAGCT
SOURCE GeneReport for Unigene cluster: Hs.712539
Expression variation in blood from EXPOLDB for HBG1 UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891Tissue specificity: Red blood cells |
Orthologs for HBG1
(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 HBG1 gene from 5 species
About this table Species with no ortholog for HBG1
ENSEMBL Gene Tree for HBG1 | Paralogs for HBG1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for HBG1 gene
- HBB2 HBE12 HBG22 CYGB2 HBD2
|
SNPs/Variants for HBG1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for HBG1 (up to first 250kb)
|
Disorders & Mutations for HBG1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 142200 disorders: 141749 UniProtKB/Swiss-Prot: HBG1_HUMAN, P69891
Some gamma variants can cause severe jaundice and cyanosis in premature and new born babies10/14 Novoseek disease relationships for HBG1 gene (see all 14
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| erythroleukemia |
84.00 |
7 |
2217202 (1), 8400240 (1), 11162141 (1), 7686501 (1) (see all 7) |
| beta-thalassemia |
82.36 |
22 |
16814578 (2), 7703040 (2), 10699179 (1), 10975440 (1) (see all 17) |
| hemoglobinopathies |
82.33 |
6 |
17699975 (1), 7579419 (1), 16814578 (1), 9883803 (1) (see all 5) |
| sickle cell disease |
79.89 |
13 |
12200360 (1), 16378095 (1), 17612629 (1), 11063260 (1) (see all 12) |
| thalassemia |
74.38 |
6 |
12200360 (1), 15534853 (1), 16787871 (1), 16338486 (1) (see all 6) |
| alpha-thalassemia |
58.31 |
3 |
7703040 (2), 18076350 (1) |
| sickle cell trait |
44.27 |
1 |
16683895 (1) |
| anemia |
40.65 |
2 |
10688844 (1), 9857233 (1) |
| anemia severe |
26.36 |
1 |
15931385 (1) |
| hemolysis |
22.40 |
3 |
16728274 (1) |
About this table
Human Gene Mutation Database: HBG1
|
Medical News for HBG1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for HBG1 (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
| 10/319 PubMed articles for HBG1 gene (see all 319
):- 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)
- Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia. (PubMed id 11514664)3, 4 Kidd R.D.... Baker E.N. (2001)
- Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His-->Gln. (PubMed id 7928382)3, 4 Plaseska D.... Efremov G.D. (1994)
- Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations. (PubMed id 1802881)3, 4 Huisman T.H.J.... Gu L.H. (1991)
- Hb F-Jiangsu, the first gamma chain variant with a valine->methionine substitution: alpha 2A gamma 2 134(H12)Val->Met. (PubMed id 1703137)3, 4 Plaseska D....Huisman T.H.J. (1990)
- 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)
- Hb F-Fukuyama or A gamma T43(CD2)Asp-->Asn. (PubMed id 2467893)3, 4 Hidaka K.... Iwakawa G. (1989)
- Hb F-Baskent or alpha 2A gamma 128(H6)Ala-->Thr. (PubMed id 2454900)3, 4 Altay C....Huisman T.H.J. (1988)
- Hb F-Xin-Su or A gamma I73(E17)Asp-->His: a new slow-moving fetal hemoglobin variant. (PubMed id 2448269)3, 4 Ma M.... Huisman T.H.J. (1987)
- Hb F-Xinjiang or A gamma T25(B7)Gly-->Arg: a new slow-moving unstable fetal hemoglobin variant. (PubMed id 2448268)3, 4 Hu H. and Ma M. (1987)
|
Search for HBG1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HBG1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing HBG1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HBG1(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
|
| Name | Description |
| HbVar | http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG1 |
|
| | | About This Section
| --
| Services for HBG1(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) About This Section
| 
 Products for HBG1:

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Incremental update: 13 Oct 2009
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