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

Gene ID: 6776, updated on 11-Apr-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
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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)

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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.

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