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

    Gene ID: 55228, updated on 17-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_001103149.2NP_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:5360
      PNMA; PNMA
    2. NM_018215.4NP_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:5360
      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_011527067.3XP_011525369.1  paraneoplastic antigen-like protein 8A isoform X1

      Conserved Domains (1) summary
      pfam14893
      Location:5360
      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_054321359.1XP_054177334.1  paraneoplastic antigen-like protein 8A isoform X1