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LOC111089946 NAIP promoter region [ Homo sapiens (human) ]

Gene ID: 111089946, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111089946
Gene description
NAIP promoter region
Gene type
biological region
Feature type(s)
mobile_element
protein_bind
regulatory: promoter, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region includes multiple promoters of the NLR family apoptosis inhibitory protein (NAIP) gene. One of these promoters is derived from endogenous retrovirus sequence and may show testis-specific activity. [provided by RefSeq, Sep 2017]
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Genomic context

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Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71020588..71026932)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71477341..71483683)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70316415..70322759)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70227603-70228594 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70228664-70229392 Neighboring gene survival motor neuron- antisense 1 Neighboring gene survival of motor neuron 1, telomeric Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70260097-70260788 Neighboring gene uncharacterized LOC112267942 Neighboring gene NLR family apoptosis inhibitory protein Neighboring gene general transcription factor IIH subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:70362331-70362930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:70380837-70381338 Neighboring gene OCLN pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 13B-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. Functional human NAIP promoter transcription regulatory elements for the NAIP and PsiNAIP genes. Xu M, et al. Biochim Biophys Acta, 2002 Feb 20. PMID 11955612
  2. A novel protein isoform of the multicopy human NAIP gene derives from intragenic Alu SINE promoters. Romanish MT, et al. PLoS One, 2009 Jun 2. PMID 19488400, Free PMC Article
  3. Repeated recruitment of LTR retrotransposons as promoters by the anti-apoptotic locus NAIP during mammalian evolution. Romanish MT, et al. PLoS Genet, 2007 Jan 12. PMID 17222062, Free PMC Article
  4. Neuronal apoptosis inhibitory protein is expressed in developing kidney and is regulated by PAX2. Dziarmaga A, et al. Am J Physiol Renal Physiol, 2006 Oct. PMID 16735463
  5. Endogenous retroviral LTRs as promoters for human genes: a critical assessment. Cohen CJ, et al. Gene, 2009 Dec 15. PMID 19577618

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_055538.1 

    Range
    101..6445
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    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    71020588..71026932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791777.1 Reference GRCh38.p14 PATCHES

    Range
    267665..274009 complement
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    950864..957207
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    568969..575311
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    71477341..71483683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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