Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: HBA1 ENSG00000206172

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Description

hemoglobin, alpha 1 [Source:HGNC Symbol;Acc:4823]

Gene Synonyms

HBA1, HBH

Location

Chromosome 16: 226,679-227,521 forward strand.

GRCh37:CM000678.1

About this gene

This gene has 4 transcripts (splice variants), 9 paralogues and is associated with 9 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000320868.5	HBA1-001	577	142aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10399	D1MGQ2 G3V1N2 P69905 P78461 Q7Z6G4	NM_000558.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000397797.1	HBA1-006	504	110aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V1N2 P78461	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000472694.1	HBA1-002	674	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000487791.1	HBA1-005	410	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Paralogues

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Download paralogues

Type	Ancestral taxonomy	Ensembl identifier & gene name	Compare	Location	Percentage of the paralogous sequence matching the query sequenceTarget %id	Percentage of the query sequence matching the sequence of the paralogueQuery %id
Ancient paralogues	Last common ancestor with Ray-finned fishes (Neopterygii)Bony vertebrates (Euteleostomi)	ENSG00000213931 HBE1 hemoglobin, epsilon 1 [Source:HGNC Symbol;Acc:4830]	Alignment (protein) Alignment (cDNA)	11:5,289,582-5,526,847:-1	38.00 %	39.00 %
Ancient paralogues	Last common ancestor with Ray-finned fishes (Neopterygii)Bony vertebrates (Euteleostomi)	ENSG00000223609 HBD hemoglobin, delta [Source:HGNC Symbol;Acc:4829]	Alignment (protein) Alignment (cDNA)	11:5,253,908-5,256,600:-1	42.00 %	44.00 %
Ancient paralogues	Last common ancestor with Ray-finned fishes (Neopterygii)Bony vertebrates (Euteleostomi)	ENSG00000196565 HBG2 hemoglobin, gamma G [Source:HGNC Symbol;Acc:4832]	Alignment (protein) Alignment (cDNA)	11:5,274,420-5,667,019:-1	41.00 %	42.00 %
Ancient paralogues	Last common ancestor with Ray-finned fishes (Neopterygii)Bony vertebrates (Euteleostomi)	ENSG00000244734 HBB hemoglobin, beta [Source:HGNC Symbol;Acc:4827]	Alignment (protein) Alignment (cDNA)	11:5,246,694-5,250,625:-1	43.00 %	44.00 %
Ancient paralogues	Last common ancestor with Ray-finned fishes (Neopterygii)Bony vertebrates (Euteleostomi)	ENSG00000213934 HBG1 hemoglobin, gamma A [Source:HGNC Symbol;Acc:4831]	Alignment (protein) Alignment (cDNA)	11:5,269,313-5,271,122:-1	41.00 %	42.00 %
Genes (homologues) that have evolved by duplication.Paralogues	Human	ENSG00000188536 HBA2 hemoglobin, alpha 2 [Source:HGNC Symbol;Acc:4824]	Alignment (protein) Alignment (cDNA)	16:222,846-223,709:1	100.00 %	100.00 %
Genes (homologues) that have evolved by duplication.Paralogues	Last common ancestor with Marsupials (Marsupialia)Marsupials and Placental mammals (Theria)	ENSG00000086506 HBQ1 hemoglobin, theta 1 [Source:HGNC Symbol;Acc:4833]	Alignment (protein) Alignment (cDNA)	16:230,452-231,180:1	62.00 %	62.00 %
Genes (homologues) that have evolved by duplication.Paralogues	Last common ancestor with X.tropicalis (Xenopus tropicalis)Tetrapods (Tetrapoda)	ENSG00000206177 HBM hemoglobin, mu [Source:HGNC Symbol;Acc:4826]	Alignment (protein) Alignment (cDNA)	16:203,891-216,767:1	45.00 %	45.00 %
Genes (homologues) that have evolved by duplication.Paralogues	Last common ancestor with X.tropicalis (Xenopus tropicalis)Tetrapods (Tetrapoda)	ENSG00000130656 HBZ hemoglobin, zeta [Source:HGNC Symbol;Acc:4835]	Alignment (protein) Alignment (cDNA)	16:202,686-204,502:1	60.00 %	60.00 %

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