Human Gene HBG1 (ENST00000330597.5_8) from GENCODE V47lift37
  Description: hemoglobin subunit gamma 1 (from RefSeq NM_000559.3)
Gencode Transcript: ENST00000330597.5_8
Gencode Gene: ENSG00000213934.9_10
Transcript (Including UTRs)
   Position: hg19 chr11:5,269,499-5,271,087 Size: 1,589 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr11:5,269,589-5,271,034 Size: 1,446 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:5,269,499-5,271,087)mRNA (may differ from genome)Protein (147 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HBG1_HUMAN
DESCRIPTION: RecName: Full=Hemoglobin subunit gamma-1; AltName: Full=Gamma-1-globin; AltName: Full=Hb F Agamma; AltName: Full=Hemoglobin gamma-1 chain; AltName: Full=Hemoglobin gamma-A chain;
FUNCTION: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
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).
TISSUE SPECIFICITY: Red blood cells.
DEVELOPMENTAL STAGE: Expressed until four or five weeks after birth.
PTM: Acetylation of Gly-2 converts Hb F to the minor Hb F1.
SIMILARITY: Belongs to the globin family.
WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and thalassemias; URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HBG1
Diseases sorted by gene-association score: fetal hemoglobin quantitative trait locus 1* (1450), hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome* (202), hereditary persistence of fetal hemoglobin-sickle cell disease syndrome* (175), sickle cell disease (27), thalassemia (19), thalassemia, hispanic gamma-delta-beta (17), hemoglobinopathy (14), acute erythroid leukemia (12), congenital hemolytic anemia (11), thalassemias, alpha- (10), sickle cell anemia (10), hemoglobin h disease, nondeletional (6), hereditary spherocytosis (5), autosomal genetic disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.36 RPKM in Whole Blood
Total median expression: 33.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.9053-0.281 Picture PostScript Text
3' UTR -14.7090-0.163 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000971 - Globin
IPR009050 - Globin-like
IPR012292 - Globin_dom
IPR002337 - Haemoglobin_b

Pfam Domains:
PF00042 - Globin

SCOP Domains:
46458 - Globin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1I3D - X-ray 1I3E - X-ray


ModBase Predicted Comparative 3D Structure on P69891
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005344 oxygen transporter activity
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0046872 metal ion binding

Biological Process:
GO:0007596 blood coagulation
GO:0015671 oxygen transport

Cellular Component:
GO:0005829 cytosol
GO:0005833 hemoglobin complex


-  Descriptions from all associated GenBank mRNAs
  LP895821 - Sequence 685 from Patent EP3253886.
V00512 - Human messenger RNA for gamma-globin.
X55656 - Homo sapiens mRNA for gamma-G globin (clone pHG21).
BC020719 - Homo sapiens hemoglobin, gamma A, mRNA (cDNA clone MGC:22503 IMAGE:4732536), complete cds.
X55655 - Homo sapiens mRNA for gamma-A globin.
M11427 - Human gamma-globin mRNA, 3' end.
BC010913 - Homo sapiens hemoglobin, gamma A, mRNA (cDNA clone MGC:13465 IMAGE:4133117), complete cds.
JD381670 - Sequence 362694 from Patent EP1572962.
JD271138 - Sequence 252162 from Patent EP1572962.
KJ905770 - Synthetic construct Homo sapiens clone ccsbBroadEn_15440 HBG1 gene, encodes complete protein.
DQ892801 - Synthetic construct clone IMAGE:100005431; FLH189847.01X; RZPDo839B1075D hemoglobin, gamma A (HBG1) gene, encodes complete protein.
DQ896048 - Synthetic construct Homo sapiens clone IMAGE:100010508; FLH189843.01L; RZPDo839B1065D hemoglobin, gamma A (HBG1) gene, encodes complete protein.
LP986379 - Sequence 17 from Patent EP3201339.
MA014039 - JP 2017536338-A/17: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
JD024619 - Sequence 5643 from Patent EP1572962.
LP986377 - Sequence 15 from Patent EP3201339.
MA014037 - JP 2017536338-A/15: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
JD035889 - Sequence 16913 from Patent EP1572962.
JD035373 - Sequence 16397 from Patent EP1572962.
JD031323 - Sequence 12347 from Patent EP1572962.
AX718429 - Sequence 5 from Patent WO03008639.
LP986375 - Sequence 13 from Patent EP3201339.
MA014035 - JP 2017536338-A/13: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P69891 (Reactome details) participates in the following event(s):

R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000330597.1, ENST00000330597.2, ENST00000330597.3, ENST00000330597.4, HBG1_HUMAN, NM_000559, P02096, P62027, P69891, PRO2979, Q549G1, Q8TDA1, Q96FH7, uc317szz.1, uc317szz.2
UCSC ID: ENST00000330597.5_8
RefSeq Accession: NM_000559.3
Protein: P69891 (aka HBG1_HUMAN or HBG_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.