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HBA1 (hemoglobin subunit alpha 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3039
Gene nameGene Name - the full gene name approved by the HGNC.
Hemoglobin subunit alpha 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HBA1
SynonymsGene synonyms aliases
ECYT7, HBA-T3, HBH, METHBA
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5`- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3`. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. Thes
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1041439 hsa-miR-4272 CLIP-seq
MIRT1041440 hsa-miR-4787-5p CLIP-seq
Transcription factors
Transcription factor Regulation Reference
ATRX Repression 7697714
GATA1 Unknown 12609092;20564185
KLF4 Activation 20331458
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004601 Function Peroxidase activity IBA 21873635
GO:0004601 Function Peroxidase activity IDA 19740759
GO:0005344 Function Oxygen carrier activity IBA 21873635
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 1552945, 6683087, 9441940, 9830011, 9894000, 10390349, 10930828, 11159543, 11724557, 12072504, 15550245, 15835899, 16169070, 23123858, 25156257, 25416956, 29997244, 32296183
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  African trypanosomiasis
Malaria
  Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Scavenging of heme from plasma
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alpha thalassemia alpha-Thalassemia, Alpha thalassemia intermedia rs11549407, rs41464951, rs41321345, rs41397847, rs281864834, rs111033603, rs33987053, rs121909803, rs63750067, rs41341344, rs41412046, rs41417548, rs587776826, rs587776827, rs41323248, rs41457746, rs281864819, rs63751457, rs41328049, rs63750678, rs587776828, rs28928878, rs35993655, rs886041399, rs1057519637, rs41474145, rs63751269, rs1270810159, rs63750158, rs281864846, rs33964317, rs63751268, rs281864550, rs1377412693, rs767911847, rs1596570041, rs1596573477, rs34883113, rs1263969213, rs63750751, rs34021271 16798638, 23794144, 2050764
Anemia Anemia, Anemia, Hemolytic, Iron-Refractory Iron Deficiency Anemia, Microcytic hypochromic anemia (disorder), Heinz Body Anemias rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 2050764
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 12376462
Cerebral infarction Cerebral Infarction rs2230500 1634355
Unknown
Disease name Disease term dbSNP ID References
Alpha-thalassemia mental retardation syndrome Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type, Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Anaplastic carcinoma Anaplastic carcinoma 12376462
Brain infarction Subcortical Infarction 1634355
Congenital clubfoot Congenital clubfoot

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