HBG1

Protein identityUniProt · HPA

UniProt accession

P69891

Gene

HBG1

Ensembl

ENSG00000213934

Chromosome

11

Canonical length

147 aa

Protein class

Human disease related genes, Predicted intracellular proteins

Quaternary structure

Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

147 residues, UniProt reviewed canonical sequence.

>P69891|HBG1
     1  MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK
    61  VKAHGKKVLT SLGDATKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG
   121  KEFTPEVQAS WQKMVTAVAS ALSSRYH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HBG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

347 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HBG1.

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 50 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary persistence of fetal hemoglobin
• Sardinian HPFH
• Greek HPFH
• British HPFH

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0.57

gnomAD missense Z

0.78

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carbon dioxide transport
• erythrocyte development
• oxygen transport

Molecular functions

• heme binding
• hemoglobin alpha binding
• metal ion binding
• oxygen binding
• oxygen carrier activity

Cellular components

• cytosol
• haptoglobin-hemoglobin complex
• hemoglobin complex

Protein domainsUniProt · Pfam · InterPro

• Globin
• Hemoglobin, beta-type
• Globin-like superfamily
• Globin/Protoglobin
• Hemoglobin and related oxygen transporters
• Globin

KeywordsUniProt

• Acetylation
• Heme
• Iron
• Metal-binding
• Oxygen transport
• Phosphoprotein
• S-nitrosylation
• Transport