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    PTMA prothymosin alpha [ Homo sapiens (human) ]

    Gene ID: 5757, updated on 27-Nov-2024

    Summary

    Official Symbol
    PTMAprovided by HGNC
    Official Full Name
    prothymosin alphaprovided by HGNC
    Primary source
    HGNC:HGNC:9623
    See related
    Ensembl:ENSG00000187514 MIM:188390; AllianceGenome:HGNC:9623
    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
    TMSA
    Summary
    Enables DNA-binding transcription factor binding activity and histone binding activity. Involved in negative regulation of apoptotic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 272.9), lymph node (RPKM 218.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PTMA in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231708525..231713551)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232193095..232198121)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (232573235..232578261)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232477143-232477789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232477790-232478435 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:232478436-232479082 and GRCh37_chr2:232479083-232479728 Neighboring gene Sharpr-MPRA regulatory region 726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17300 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:232510968-232511721 Neighboring gene RNA, 7SL, cytoplasmic 499, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12435 Neighboring gene RN7SL499P-PTMA intergenic region enhancers Neighboring gene Sharpr-MPRA regulatory region 275 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232544680-232545472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232546266-232547057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232550745-232551470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232552197-232552921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232561163-232561664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232561665-232562164 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232571367-232572005 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232572645-232573282 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232573283-232573921 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232573922-232574559 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:232575199-232575835 Neighboring gene uncharacterized LOC124906134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232576909-232577409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232579381-232579910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232579911-232580440 Neighboring gene Sharpr-MPRA regulatory region 12341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17315 Neighboring gene microRNA 1244-1 Neighboring gene Sharpr-MPRA regulatory region 13150 Neighboring gene phosphodiesterase 6D Neighboring gene RNA, U6 small nuclear 1342, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:232645182-232645405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12449 Neighboring gene COP9 signalosome subunit 7B Neighboring gene ribosomal protein L28 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of prothymosin alpha by siRNA enhances HIV-1 replication in macrophages through the downregulation of type I interferon PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev prothymosin alpha has been identified through the use of a Rev affinity column as specifically binding to the activation domain of Rev (amino acids 75-83) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104802

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone 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 DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    prothymosin alpha
    Names
    gene sequence 28
    prothymosin alpha protein
    prothymosin-I+/-

    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_001099285.2NP_001092755.1  prothymosin alpha isoform 1

      See identical proteins and their annotated locations for NP_001092755.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC073476, BC071879, BM839980, M14630
      Consensus CDS
      CCDS42833.1
      UniProtKB/Swiss-Prot
      P06454, Q15249, Q15592
      UniProtKB/TrEMBL
      Q86YS2
      Related
      ENSP00000344547.7, ENST00000341369.11
      Conserved Domains (1) summary
      pfam03247
      Location:2110
      Prothymosin; Prothymosin/parathymosin family
    2. NM_002823.5NP_002814.3  prothymosin alpha isoform 2

      See identical proteins and their annotated locations for NP_002814.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC073476, BC071879, BM839980
      Consensus CDS
      CCDS46541.1
      UniProtKB/TrEMBL
      Q53S24, Q86YS2
      Related
      ENSP00000386819.3, ENST00000409115.8
      Conserved Domains (1) summary
      pfam03247
      Location:2109
      Prothymosin; Prothymosin/parathymosin family

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      231708525..231713551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      232193095..232198121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)