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

    Gene ID: 114824, updated on 2-Nov-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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    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

    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 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_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.

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