Version 5.4
| Homo sapiens Gene: HBG1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-236512.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | HBG1 | ||||||||||||||||||
| Gene Name | hemoglobin, gamma A | ||||||||||||||||||
| Synonyms | HBG-T2; HBGA; HBGR; HSGGL1 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000213934 | ||||||||||||||||||
| Encoded Proteins |
hemoglobin, gamma A
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 11:5248083-5249892 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | p15.4 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
| No orthologs found for this gene | |||||||||||||||||||
| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Factors involved in megakaryocyte development and platelet production pathway
Hemostasis pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | P69891 | ||||||||||||||||||
| TrEMBL | D9YZU8 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 3047 | ||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_000559 | ||||||||||||||||||
| HUGO | HGNC:4831 | ||||||||||||||||||
| OMIM | 142200 | ||||||||||||||||||
| CCDS | CCDS7754 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF130098 AF487523 BC010913 BC020719 CH471064 GU324925 J00176 M91036 M91037 U01317 V00513 V00514 | ||||||||||||||||||
| GenPept | AAA16332 AAA52637 AAA58493 AAB59429 AAG35523 AAH10913 AAH20719 AAL99545 ADL14496 CAA23771 CAA23772 EAW68804 | ||||||||||||||||||
| RNA Seq Atlas | 3047 | ||||||||||||||||||