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

Gene ID: 114824, updated on 5-Mar-2024

Summary

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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
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Genomic context

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Location:
Xq28
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152988824..152994116, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151255263..151260555, complement)
105.20220307 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

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. 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. 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
  4. 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
  5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

See all (13) citations in PubMed

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 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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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
  

General protein information

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Preferred Names
paraneoplastic antigen-like protein 5
Names
paraneoplastic Ma antigen family member 5
tumor antigen BJ-HCC-25

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_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

    See identical proteins and their annotated locations for NP_001096620.1

    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

    See identical proteins and their annotated locations for NP_001096621.1

    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

    See identical proteins and their annotated locations for NP_001171853.1

    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

    See identical proteins and their annotated locations for NP_443158.1

    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_2023_10

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

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