Human Gene HBG1 (uc001mah.1)
  Description: Homo sapiens hemoglobin, gamma A (HBG1), mRNA.
RefSeq Summary (NM_000559): 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]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000330597.5/ ENSP00000327431.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr11:5,269,502-5,271,087 Size: 1,586 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 CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:5,269,502-5,271,087)mRNA (may differ from genome)Protein (147 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: D9YZU8_HUMAN
DESCRIPTION: SubName: Full=Hemoglobin, gamma A;
SIMILARITY: Belongs to the globin family.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HBG1
CDC HuGE Published Literature: HBG1

-  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           more ... click here to view the complete list

+  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 -15.0053-0.283 Picture PostScript Text
3' UTR -15.0387-0.173 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

ModBase Predicted Comparative 3D Structure on D9YZU8
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:0015671 oxygen transport

Cellular Component:
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.

-  Other Names for This Gene
  Alternate Gene Symbols: D9YZU8, D9YZU8_HUMAN, NM_000559, NP_000550
UCSC ID: uc001mah.1
RefSeq Accession: NM_000559
Protein: D9YZU8 CCDS: CCDS7754.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000559.2
exon count: 3CDS single in 3' UTR: no RNA size: 584
ORF size: 444CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1088.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.