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    PNMA8A PNMA family member 8A [ Homo sapiens (human) ]

    Gene ID: 55228, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PNMA8Aprovided by HGNC
    Official Full Name
    PNMA family member 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:25578
    See related
    Ensembl:ENSG00000182013 MIM:620933; AllianceGenome:HGNC:25578
    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
    Also known as
    PNMAL1
    Expression
    Biased expression in brain (RPKM 50.9), testis (RPKM 18.2) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PNMA8A in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46466503..46471563, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49292102..49297163, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46969760..46974820, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46915195-46916028 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:46917695-46918528 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46918529-46919361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46929364-46929871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46929872-46930378 Neighboring gene coiled-coil domain containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14841 Neighboring gene MPRA-validated peak3522 silencer Neighboring gene PNMA family member 8C Neighboring gene PNMA family member 8B Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47025347-47025526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10813 Neighboring gene PPP5 tetratricopeptide repeat domain containing 1, pseudogene Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 38

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide diet-gene interaction analyses for risk of colorectal cancer. Figueiredo JC, et al. PLoS Genet, 2014 Apr. PMID 24743840, Free PMC Article
    2. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. Oshikawa K, et al. J Proteome Res, 2012 Feb 3. PMID 22053931
    3. Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107411
    4. Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network. Brajenovic M, et al. J Biol Chem, 2004 Mar 26. PMID 14676191
    5. Low BACH2 Expression Predicts Adverse Outcome in Chronic Lymphocytic Leukaemia. Ciardullo C, et al. Cancers (Basel), 2021 Dec 21. PMID 35008187, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10781

    General protein information

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    Preferred Names
    paraneoplastic antigen-like protein 8A
    Names
    PNMA-like protein 1
    paraneoplastic Ma antigen family like 1
    paraneoplastic Ma antigen family member 8A

    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_001103149.2 → NP_001096619.1  paraneoplastic antigen-like protein 8A isoform b

      See identical proteins and their annotated locations for NP_001096619.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1 that results in a frameshift. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL834344, BQ637225, BU844519, DA219062, DA325514
      Consensus CDS
      CCDS46124.1
      UniProtKB/Swiss-Prot
      Q86V59
      Related
      ENSP00000410273.1, ENST00000438932.2
      Conserved Domains (1) summary
      pfam14893
      Location:5 → 360
      PNMA; PNMA

    2. NM_018215.4 → NP_060685.2  paraneoplastic antigen-like protein 8A isoform a

      See identical proteins and their annotated locations for NP_060685.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
      Source sequence(s)
      AL834344, BC032508, BC051688, BQ637225, BU844519, DA219062, DA325514
      Consensus CDS
      CCDS33059.1
      UniProtKB/Swiss-Prot
      A8K2F3, Q5U638, Q86V59, Q8N3H4, Q9NVE8
      Related
      ENSP00000318131.10, ENST00000313683.15
      Conserved Domains (1) summary
      pfam14893
      Location:5 → 360
      PNMA; PNMA

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      46466503..46471563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527067.3 → XP_011525369.1  paraneoplastic antigen-like protein 8A isoform X1

      Conserved Domains (1) summary
      pfam14893
      Location:5 → 360
      PNMA; PNMA

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      49292102..49297163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321359.1 → XP_054177334.1  paraneoplastic antigen-like protein 8A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86V59.2 GenPept UniProtKB/Swiss-Prot:Q86V59

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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