Signal transducer and activator of transcription 5B (STAT5B)
The protein contains 787 amino acids for an estimated molecular weight of 89866 Da.
Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation. (updated: Jan. 31, 2018)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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| Variant | Description |
|---|---|
| dbSNP:rs2277619 | |
| GHII | |
| GHII; transcriptionally inactive |
Biological Process
2-oxoglutarate metabolic process
Acute-phase response
Allantoin metabolic process
Cellular response to epidermal growth factor stimulus
Cellular response to growth factor stimulus
Cellular response to hormone stimulus
Citrate metabolic process
Creatine metabolic process
Creatinine metabolic process
Cytokine-mediated signaling pathway
Defense response
Development of secondary female sexual characteristics
Development of secondary male sexual characteristics
Fatty acid metabolic process
Female pregnancy
Growth hormone receptor signaling pathway via JAK-STAT
Interleukin-15-mediated signaling pathway
Interleukin-2-mediated signaling pathway
Interleukin-7-mediated signaling pathway
Interleukin-9-mediated signaling pathway
Isoleucine metabolic process
Lactation
Lipid storage
Liver development
Luteinization
Mast cell migration
Natural killer cell differentiation
Negative regulation of apoptotic process
Negative regulation of erythrocyte differentiation
Oxaloacetate metabolic process
Peyer's patch development
Positive regulation of activated T cell proliferation
Positive regulation of B cell differentiation
Positive regulation of cellular component movement
Positive regulation of erythrocyte differentiation
Positive regulation of gamma-delta T cell differentiation
Positive regulation of inflammatory response
Positive regulation of interleukin-2 biosynthetic process
Positive regulation of interleukin-2 production
Positive regulation of mitotic cell cycle
Positive regulation of multicellular organism growth
Positive regulation of natural killer cell differentiation
Positive regulation of natural killer cell mediated cytotoxicity
Positive regulation of natural killer cell proliferation
Positive regulation of smooth muscle cell proliferation
Positive regulation of transcription by RNA polymerase II
Progesterone metabolic process
Prolactin signaling pathway
Receptor signaling pathway via JAK-STAT
Regulation of cell population proliferation
Regulation of epithelial cell differentiation
Regulation of multicellular organism growth
Regulation of steroid metabolic process
Regulation of transcription by RNA polymerase II
Response to estradiol
Response to ethanol
Response to hypoxia
Response to interleukin-15
Response to interleukin-2
Response to interleukin-4
Response to lipopolysaccharide
Response to peptide hormone
Succinate metabolic process
T cell differentiation in thymus
T cell homeostasis
Taurine metabolic process
Transcription by RNA polymerase II
Valine metabolic process
Molecular Function
Chromatin binding
DNA-binding transcription activator activity, RNA polymerase II-specific
DNA-binding transcription factor activity
DNA-binding transcription factor activity, RNA polymerase II-specific
Double-stranded DNA binding
Glucocorticoid receptor binding
Identical protein binding
Obsolete signal transducer activity
Protein dimerization activity
Protein tyrosine kinase activity
Proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific
RNA polymerase II cis-regulatory region sequence-specific DNA binding
RNA polymerase II core promoter sequence-specific DNA binding
The reference OMIM entry for this protein is 245590
Growth hormone insensitivity with immunodeficiency
Laron syndrome due to postreceptor defect
Growth hormone insensitivity due to postreceptor defect
A number sign (#) is used with this entry because of evidence that at least 1 form of postreceptor defect that causes growth hormone (GH; 139250) insensitivity results from mutation in the STAT5B gene (604260). See 262500 for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; 600946).
CLINICAL FEATURES
Laron et al. (1966) reported a form of genetic dwarfism (262500) associated with high circulating growth hormone. Originally, they assumed a faulty GH molecule, but subsequent investigations established defective GH receptor (GHR; 600946), which precluded the binding of GH as the cause. The defect in feedback on the pituitary, causing the extensive GH oversecretion, was thought to be related to the lack of IGF1 (147440), the synthetic product of GH-receptor interaction. The defect in the growth hormone receptor was reflected by the deficiency of serum growth hormone binding protein (GHBP), which is encoded by the GHR gene. Buchanan et al. (1991) reported children in families originating from Pakistan or India who showed typical features of Laron syndrome but had normal levels of serum GHBP. Laron et al. (1993) reported the cases of 3 sibs, born of first-cousin Palestinian Arab parents, with Laron syndrome and normal serum GHBP who underwent long-term treatment with biosynthetic IGF1 with results indicating a post-GH receptor defect. Basal serum levels of growth hormone were high and IGF1 low, but, in contradistinction to the classic form of Laron syndrome, serum GHBP and insulin-like growth factor-binding protein-3 (IGFBP3; 146732) were normal in these patients. Laron et al. (1993) concluded from the results of short-term treatment with human growth hormone and short- and long-term IGF1 administration that the GH receptor and the signal transmission for IGFBP-3 synthesis were normal but that a defect existed in the post-GH receptor mechanism for the generation of IGF1. Treatment with IGF1 for 1 year increased the growth velocity by 47 to 96% in the 2 older children. The sibs showed the typical clinical features of Laron syndrome: they were very short and obese, had acromicria, small genitalia (in the boys), and a high-pitched voice. A prominent forehead was demonstrated in 1 patient. It is perhaps significant that females on both sides of the family, aunts of the 3 sibs, and the paternal grandmother were very short, being less than 2 standard deviations below the mean. This may represent heterozygous manifestation. Kofoed et al. (2003) described a 16.5-year-old Argentinian girl, born of first-cousin parents, who required care in a neonatal unit at birth due to respiratory difficulties. She had poor weight gain and growth failure during the first 3 years of life, and at 7 years of age, her height and weight were below the fifth percentile. Continued respiratory difficulties with increasing oxygen requirements led to lung biopsy, which showed lymphoid interstitial pneumonia. At 8 years of age, she presented with severe hemorrhagic varicella and subsequently had several episodes of herpes zoster. Progressive worsening of her pulmonary function resulted in a second lung biopsy at the age of 10 years from which Pneumocystis carinii was isolated. A 12-month trial of growth hormone therapy resulted in no improvement in growth rate. At the age of 16.5 years, her height was 117.8 cm (7.5 SD below the mean for age), with normal body proportions and delayed secondary sex characteristics (Ta ... More on the omim web site
Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 245590 was added.