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    HBAP1 hemoglobin subunit alpha pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 3041, updated on 1-Mar-2024

    Summary

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    Official Symbol
    HBAP1provided by HGNC
    Official Full Name
    hemoglobin subunit alpha pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:4825
    See related
    Ensembl:ENSG00000225323 AllianceGenome:HGNC:4825
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HBA3; HBA3P; HBA-T1; HBA-T1ps
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    Genomic context

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    Location:
    16p13.3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (168641..169452)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (162675..163486)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (218640..219451)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:213784-214284 Neighboring gene hemoglobin subunit zeta pseudogene 1 Neighboring gene hemoglobin subunit mu Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:220059-220561 Neighboring gene hemoglobin subunit alpha 2 recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:221864-222604 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:223344-224083 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:224084-224822 Neighboring gene hemoglobin subunit alpha 2 Neighboring gene hemoglobin subunit alpha 1 recombination region Neighboring gene hemoglobin subunit alpha 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication. Proudfoot NJ, et al. Cell, 1980 Sep. PMID 7407925
    2. Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon. Safaya S, et al. J Biol Chem, 1988 Mar 25. PMID 2831226
    3. Distinctive sequence organization and functional programming of an Alu repeat promoter. Perez-Stable C, et al. Proc Natl Acad Sci U S A, 1984 Sep. PMID 6089189, Free PMC Article
    4. End-to-end transcription of an Alu family repeat. A new type of polymerase-III-dependent terminator and its evolutionary implication. Hess J, et al. J Mol Biol, 1985 Jul 5. PMID 2411938
    5. Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia. Orkin SH, et al. Nature, 1980 Jul 31. PMID 7402334

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Markers

    Other Names

    • alpha globin pseudogene 1
    • hemoglobin, alpha pseudogene 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      168641..169452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      162675..163486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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    Chemical Information
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