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ATF7-NPFF ATF7-NPFF readthrough [ Homo sapiens (human) ]

Gene ID: 114108587, updated on 10-Oct-2023

Summary

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Official Symbol
ATF7-NPFFprovided by HGNC
Official Full Name
ATF7-NPFF readthroughprovided by HGNC
Primary source
HGNC:HGNC:55073
See related
Ensembl:ENSG00000267281 AllianceGenome:HGNC:55073
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable DNA binding activity and DNA-binding transcription factor activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

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Location:
12q13.13
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53506688..53626382, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53472693..53592424, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53900472..54020166, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene poly(rC) binding protein 2 Neighboring gene PCBP2 overlapping transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53876139-53876652 Neighboring gene mitogen-activated protein kinase kinase kinase 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4514 Neighboring gene Sharpr-MPRA regulatory region 1043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6423 Neighboring gene Sharpr-MPRA regulatory region 3466 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53902821-53903053 Neighboring gene uncharacterized LOC100652999 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53909665-53909906 Neighboring gene TARBP2 subunit of RISC loading complex Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:53910873-53911372 Neighboring gene neuropeptide FF-amide peptide precursor Neighboring gene activating transcription factor 7 Neighboring gene uncharacterized LOC124902937 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:53962840-53963409 Neighboring gene zinc finger protein 337 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6424 Neighboring gene MPRA-validated peak1736 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6425 Neighboring gene uncharacterized LOC124902938 Neighboring gene ribosomal protein L31 pseudogene 51

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

General gene information

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Readthrough ATF7-NPFF

Included genes: NPFF, ATF7

Homology

General protein information

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Preferred Names
ATF7-NPFF readthrough protein

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.

mRNA and Protein(s)

  1. NM_001366559.1 → NP_001353488.1  ATF7-NPFF readthrough protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC023509, AC073594
    UniProtKB/TrEMBL
    B2R8U0, K7ELQ4
    Related
    ENSP00000466174.1, ENST00000591834.1
    Conserved Domains (4) summary
    cd12192
    Location:47 → 84
    GCN4_cent; GCN4 central activation domain-like acidic activation domain
    cd14687
    Location:334 → 394
    bZIP_ATF2; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-2 (ATF-2) and similar proteins: a DNA-binding and dimerization domain
    sd00019
    Location:9 → 31
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:7 → 31
    zf-C2H2; Zinc finger, C2H2 type

  2. NM_001366560.1 → NP_001353489.1  ATF7-NPFF readthrough protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC023509, AC073594
    UniProtKB/TrEMBL
    B2R8U0
    Conserved Domains (4) summary
    cd12192
    Location:47 → 84
    GCN4_cent; GCN4 central activation domain-like acidic activation domain
    cd14687
    Location:334 → 394
    bZIP_ATF2; Basic leucine zipper (bZIP) domain of Activating Transcription Factor-2 (ATF-2) and similar proteins: a DNA-binding and dimerization domain
    sd00019
    Location:9 → 31
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:7 → 31
    zf-C2H2; Zinc finger, C2H2 type

RNA

  1. NR_159377.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC023509, AC073594

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    53506688..53626382 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    53472693..53592424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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