U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PNMA5 PNMA family member 5 [ Homo sapiens (human) ]

Gene ID: 114824, updated on 3-May-2025
Official Symbol
PNMA5provided by HGNC
Official Full Name
PNMA family member 5provided by HGNC
Primary source
HGNC:HGNC:18743
See related
Ensembl:ENSG00000198883 MIM:300916; AllianceGenome:HGNC:18743
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]
Expression
Biased expression in testis (RPKM 6.1) and brain (RPKM 2.5) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table
See PNMA5 in Genome Data Viewer
Location:
Xq28
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152988824..152994116, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151255263..151260555, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152157368..152162660, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 185 with LIM domain Neighboring gene uncharacterized LOC124905237 Neighboring gene uncharacterized LOC105373372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152158397-152158896 Neighboring gene paraneoplastic antigen Ma6F-like Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 48

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Distinct functional domains of PNMA5 mediate protein-protein interaction, nuclear localization, and apoptosis signaling in human cancer cells. Lee YH, et al. J Cancer Res Clin Oncol, 2016 Sep. PMID 27424190
  2. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. Schüller M, et al. J Neuroimmunol, 2005 Dec. PMID 16214224
  3. Cell Type-Specific Expression of Testis Elevated Genes Based on Transcriptomics and Antibody-Based Proteomics. Pineau C, et al. J Proteome Res, 2019 Dec 6. PMID 31429579
  4. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. Nagase T, et al. DNA Res, 2001 Aug 31. PMID 11572484
  5. Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation. Ansseau E, et al. PLoS One, 2016. PMID 26816005, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • KIAA1934

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
paraneoplastic antigen-like protein 5
Names
paraneoplastic Ma antigen family member 5
tumor antigen BJ-HCC-25

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.

Genomic

  1. NG_021341.2 RefSeqGene

    Range
    5012..10304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001103150.1 → NP_001096620.1  paraneoplastic antigen-like protein 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript. All four variants encode the same protein.
    Source sequence(s)
    AA732768, AY121806, BP213790
    Consensus CDS
    CCDS14718.1
    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4
    Related
    ENSP00000388850.1, ENST00000439251.3
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 321
    PNMA; PNMA

  2. NM_001103151.1 → NP_001096621.1  paraneoplastic antigen-like protein 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. All four variants encode the same protein.
    Source sequence(s)
    AA732768, AY121806, BP213790, DC329825
    Consensus CDS
    CCDS14718.1
    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4
    Related
    ENSP00000392342.1, ENST00000452693.5
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 321
    PNMA; PNMA

  3. NM_001184924.2 → NP_001171853.1  paraneoplastic antigen-like protein 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. All four variants encode the same protein.
    Source sequence(s)
    AA732768, AY121806, DC401753
    Consensus CDS
    CCDS14718.1
    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4
    Related
    ENSP00000445775.1, ENST00000535214.6
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 321
    PNMA; PNMA

  4. NM_052926.3 → NP_443158.1  paraneoplastic antigen-like protein 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2. All four variants encode the same protein.
    Source sequence(s)
    AA732768, AY121806, U82671
    Consensus CDS
    CCDS14718.1
    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4
    Related
    ENSP00000354834.5, ENST00000361887.5
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 321
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    152988824..152994116 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029252.2 → XP_016884741.1  paraneoplastic antigen-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 321
    PNMA; PNMA

  2. XM_017029253.2 → XP_016884742.1  paraneoplastic antigen-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 321
    PNMA; PNMA

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791818.1 Reference GRCh38.p14 PATCHES

    Range
    604014..609306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333333.1 → XP_054189308.1  paraneoplastic antigen-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4

  2. XM_054333334.1 → XP_054189309.1  paraneoplastic antigen-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    151255263..151260555 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326421.1 → XP_054182396.1  paraneoplastic antigen-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4

  2. XM_054326422.1 → XP_054182397.1  paraneoplastic antigen-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    B4DI72, B7Z9Y9, Q495L5, Q8NET3, Q96PV4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PV4.2 GenPept UniProtKB/Swiss-Prot:Q96PV4

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools