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

Gene ID: 55228, updated on 5-Mar-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 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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46466503..46471563, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49292102..49297163, complement)
105.20220307 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. 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
  3. 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
  4. Low BACH2 Expression Predicts Adverse Outcome in Chronic Lymphocytic Leukaemia. Ciardullo C, et al. Cancers (Basel), 2021 Dec 21. PMID 35008187, Free PMC Article
  5. 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

See all (24) 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)

Genotypes

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_2023_10

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.

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