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GJA1P1 gap junction protein alpha 1 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 2698, updated on 10-Oct-2023

Summary

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Official Symbol
GJA1P1provided by HGNC
Official Full Name
gap junction protein alpha 1 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:4275
See related
AllianceGenome:HGNC:4275
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

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Location:
5q21.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (109049582..109052656, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (109553027..109556101, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (108385283..108388357, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene FER tyrosine kinase Neighboring gene LSM2 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:108328417-108329306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22878 Neighboring gene RNA, U6 small nuclear 47, pseudogene Neighboring gene MPRA-validated peak5410 silencer Neighboring gene uncharacterized LOC124901040 Neighboring gene NANOG hESC enhancer GRCh37_chr5:108506215-108506770 Neighboring gene MPRA-validated peak5411 silencer Neighboring gene MPRA-validated peak5412 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr5:108533816-108534023 Neighboring gene uncharacterized LOC285638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:108626441-108626942

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 human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Fishman GI, et al. Genomics, 1991 May. PMID 1646158
  2. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Liu XZ, et al. Hum Mol Genet, 2001 Dec 1. PMID 11741837

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)

See Variation Viewer (GRCh38)

General gene information

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Markers

Other Names

  • gap junction protein, alpha 1, 43kDa pseudogene 1

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_003029.5 

    Range
    101..3175
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    109049582..109052656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    109553027..109556101 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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