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LOC111089944 CA1 upstream erythroid promoter [ Homo sapiens (human) ]

Gene ID: 111089944, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111089944
Gene description
CA1 upstream erythroid promoter
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
mobile_element
regulatory: DNase_I_hypersensitive_site, promoter
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region contains multiple DNase I hypersensitive sites and represents the upstream erythroid-specific promoter of the carbonic anhydrase 1 (CA1) gene. The promoter sequence is derived from an LTR retroelement. [provided by RefSeq, Jan 2018]
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (85377951..85379865)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (85816651..85818565)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86290180..86292094)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27594 Neighboring gene carbonic anhydrase 13 Neighboring gene NANOG hESC enhancer GRCh37_chr8:86229148-86229679 Neighboring gene carbonic anhydrase 1 Neighboring gene uncharacterized LOC124901970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19337 Neighboring gene NANOG hESC enhancer GRCh37_chr8:86316751-86317252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:86350401-86350924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:86350925-86351447 Neighboring gene CA3 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:86373749-86374444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:86376345-86376844 Neighboring gene carbonic anhydrase 3 Neighboring gene carbonic anhydrase 2

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. Multiple GF-1 binding sites flank the erythroid specific transcription unit of the human carbonic anhydrase I gene. Brady HJ, et al. FEBS Lett, 1989 Nov 6. PMID 2511043
  2. Structure and methylation patterns of the gene encoding human carbonic anhydrase I. Lowe N, et al. Gene, 1990 Sep 14. PMID 2121614
  3. The human carbonic anhydrase I gene has two promoters with different tissue specificities. Brady HJ, et al. Biochem J, 1991 Aug 1. PMID 1908227, Free PMC Article
  4. Erythroid expression and DNAaseI-hypersensitive sites of the carbonic anhydrase 1 gene. Sowden J, et al. Biochem J, 1992 Dec 1. PMID 1463458, Free PMC Article
  5. Characterization of the genes encoding carbonic anhydrase I of chimpanzee and gorilla: comparative analysis of 5' flanking erythroid-specific promoter sequences. Epperly BR, et al. Gene, 1993 Sep 15. PMID 8406018

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 variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055537.1 

    Range
    101..2015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    85377951..85379865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    85816651..85818565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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