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    STAT5A signal transducer and activator of transcription 5A [ Homo sapiens (human) ]

    Gene ID: 6776, updated on 5-May-2024

    Summary

    Official Symbol
    STAT5Aprovided by HGNC
    Official Full Name
    signal transducer and activator of transcription 5Aprovided by HGNC
    Primary source
    HGNC:HGNC:11366
    See related
    Ensembl:ENSG00000126561 MIM:601511; AllianceGenome:HGNC:11366
    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
    Also known as
    MGF; STAT5
    Summary
    The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
    Expression
    Broad expression in fat (RPKM 52.7), bone marrow (RPKM 20.9) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    17q21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42287439..42311943)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43143926..43168430)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40439565..40463961)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40336245-40337046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40345000-40345530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12191 Neighboring gene hypocretin neuropeptide precursor Neighboring gene GH3 domain containing Neighboring gene signal transducer and activator of transcription 5B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40439573-40440073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8523 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:40480835-40481564 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40481565-40482295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12197 Neighboring gene signal transducer and activator of transcription 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12200 Neighboring gene uncharacterized LOC102725238 Neighboring gene caveolae associated protein 1

    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
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env CD4 ligation with HIV gp120 inhibits T cell receptor-induced tyrosine phosphorylation and expression of STAT5 by blocking activation and expression of JAK3 PubMed
    capsid gag Silencing C-terminally truncated STAT5 expression by siRNA enhances HIV-1 RNA and p24 Gag expression in chronically HIV-infected U1 cell line PubMed
    gag STAT5 binds to the HIV-1 LTR during HIV infection, activating LTR transcription and leading to the upregulation of HIV-1 p24 Capsid production and an increase in the number of p24+ cells 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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in eosinophil differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in growth hormone receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in interleukin-15-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-2-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-3-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-4-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-5-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-9-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lactation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within reelin-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to peptide hormone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_positive_effect taurine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of RNA polymerase II transcription regulator complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    signal transducer and activator of transcription 5A
    Names
    epididymis secretory sperm binding protein

    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_001288718.2NP_001275647.1  signal transducer and activator of transcription 5A isoform 1

      See identical proteins and their annotated locations for NP_001275647.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AB208972, AK291650, BC027036, L41142
      Consensus CDS
      CCDS11424.1
      UniProtKB/Swiss-Prot
      P42229, Q1KLZ6
      UniProtKB/TrEMBL
      A0A384N5W4, A0A7I2YQY3
      Related
      ENSP00000468749.1, ENST00000590949.6
      Conserved Domains (4) summary
      cd10421
      Location:573712
      SH2_STAT5a; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5a proteins
      pfam01017
      Location:141330
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:332582
      STAT_bind; STAT protein, DNA binding domain
      pfam02865
      Location:2124
      STAT_int; STAT protein, protein interaction domain
    2. NM_001288719.2NP_001275648.1  signal transducer and activator of transcription 5A isoform 2

      See identical proteins and their annotated locations for NP_001275648.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon in the 5' region compared to variant 1. The resulting shorter isoform (2) lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB208972, BC027036, DQ471288
      Consensus CDS
      CCDS74067.1
      UniProtKB/TrEMBL
      A0A7I2YQY3
      Related
      ENSP00000443107.1, ENST00000546010.6
      Conserved Domains (4) summary
      cd10421
      Location:543682
      SH2_STAT5a; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5a proteins
      cd16855
      Location:109300
      STAT5_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 5 (STAT5)
      cd16849
      Location:302459
      STAT5_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 5 (STAT5)
      pfam02865
      Location:495
      STAT_int; STAT protein, protein interaction domain
    3. NM_001288720.2NP_001275649.1  signal transducer and activator of transcription 5A isoform 3

      See identical proteins and their annotated locations for NP_001275649.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame coding exon in the 3' region compared to variant 1. The resulting shorter isoform (3) lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB208972, AK291650, BC027036
      Consensus CDS
      CCDS74066.1
      UniProtKB/TrEMBL
      K7EK35, Q59GY7
      Related
      ENSP00000465437.1, ENST00000588868.5
      Conserved Domains (4) summary
      cd10421
      Location:542681
      SH2_STAT5a; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5a proteins
      cd16855
      Location:139330
      STAT5_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 5 (STAT5)
      cl28920
      Location:332460
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam02865
      Location:4124
      STAT_int; STAT protein, protein interaction domain
    4. NM_001411103.1NP_001398032.1  signal transducer and activator of transcription 5A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC087691, AC099811
      Consensus CDS
      CCDS92308.1
      UniProtKB/TrEMBL
      A0A7I2YQF1
      Related
      ENSP00000503484.1, ENST00000676631.1
    5. NM_003152.4NP_003143.2  signal transducer and activator of transcription 5A isoform 1

      See identical proteins and their annotated locations for NP_003143.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB208972, AK291650, BC027036, L41142, U43185
      Consensus CDS
      CCDS11424.1
      UniProtKB/Swiss-Prot
      P42229, Q1KLZ6
      UniProtKB/TrEMBL
      A0A384N5W4, A0A7I2YQY3
      Related
      ENSP00000341208.4, ENST00000345506.8
      Conserved Domains (4) summary
      cd10421
      Location:573712
      SH2_STAT5a; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 5a proteins
      pfam01017
      Location:141330
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:332582
      STAT_bind; STAT protein, DNA binding domain
      pfam02865
      Location:2124
      STAT_int; STAT protein, protein interaction domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42287439..42311943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436590.1XP_047292546.1  signal transducer and activator of transcription 5A isoform X2

    2. XM_047436589.1XP_047292545.1  signal transducer and activator of transcription 5A isoform X1

      UniProtKB/Swiss-Prot
      P42229, Q1KLZ6
      UniProtKB/TrEMBL
      A0A384N5W4
    3. XM_047436591.1XP_047292547.1  signal transducer and activator of transcription 5A isoform X3

    4. XM_047436588.1XP_047292544.1  signal transducer and activator of transcription 5A isoform X1

      UniProtKB/Swiss-Prot
      P42229, Q1KLZ6
      UniProtKB/TrEMBL
      A0A384N5W4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43143926..43168430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316996.1XP_054172971.1  signal transducer and activator of transcription 5A isoform X2

    2. XM_054316995.1XP_054172970.1  signal transducer and activator of transcription 5A isoform X1

      UniProtKB/Swiss-Prot
      P42229, Q1KLZ6
      UniProtKB/TrEMBL
      A0A384N5W4
    3. XM_054316997.1XP_054172972.1  signal transducer and activator of transcription 5A isoform X3

    4. XM_054316994.1XP_054172969.1  signal transducer and activator of transcription 5A isoform X1

      UniProtKB/Swiss-Prot
      P42229, Q1KLZ6
      UniProtKB/TrEMBL
      A0A384N5W4