Signal Transducer and Activator of Transcription 1

Alternative Names

STAT1

Length

45,023 bases

No. of Exons

No. of isoforms

Protein Name

Signal transducer and activator of transcription 1-alpha/beta

Molecular Mass

87335 Da

Amino Acid Count

750

Genomic Location

chr2:190,969,148-191,014,170

Gene Map Locus

2q32.2

Description

The STAT1 gene is a member of the STAT protein family and encodes 2 isoforms of STAT1, α and β. They undergo phosphorylation in response to cytokines and growth factors 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 function as signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. It also mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Defects in this protein are the cause of immunodeficiency 31B (IMD31B), immunodeficiency 31A (IMD31A), and immunodeficiency 31C (IMD31C), disorders characterized by susceptibility to severe mycobacterial and viral infections.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_007315.4:c.1220T>G	Saudi Arabia	NC_000002.12:g.190986855A>C		Pathogenic	Immunodeficiency 31B	NG_008294.1:g.32396T>G; NM_007315.4:c.1220T>G; NP_009330.1:p.Leu407Arg
NM_007315.4:c.1760_1761del	Saudi Arabia	NC_000002.12:g.190978971_190978972del	Pathogenic	Pathogenic	Immunodeficiency 31B	NG_008294.1:g.40280AG[1]; NM_007315.4:c.1760_1761del; NP_009330.1:p.Glu587AlafsTer18	587776713	9044
NM_007315.4:c.1799T>C	Saudi Arabia	NC_000002.12:g.190978930A>G	Pathogenic	Pathogenic	Immunodeficiency 31B	NG_008294.1:g.40321T>C; NM_007315.4:c.1799T>C; NP_009330.1:p.Leu600Pro	137852678	9045
NM_007315.4:c.1852G>T	Palestine	NC_000002.12:g.190978877C>A	Likely Pathogenic	Pathogenic	Immunodeficiency 31B	NG_008294.1:g.40374G>T; NM_007315.4:c.1852G>T; NP_009330.1:p.Glu618Ter	1574640523	809129
NM_007315.4:c.185C>G	Saudi Arabia	NC_000002.12:g.191009051G>C		Pathogenic	Immunodeficiency 31B	NG_008294.1:g.10200C>G; NM_007315.4:c.185C>G; NP_009330.1:p.Ser62Ter
NM_007315.4:c.1909A>G	Saudi Arabia	NC_000002.12:g.190976990T>C	Pathogenic	Pathogenic	Immunodeficiency 31A	NG_008294.1:g.42261A>G; NM_007315.4:c.1909A>G; NP_009330.1:p.Lys637Glu	587777705	155908
NM_007315.4:c.2086C>T	Palestine	NC_000002.12:g.190975861G>A		Pathogenic	Immunodeficiency 31B	NG_008294.1:g.43390C>T; NM_007315.4:c.2086C>T; NP_009330.1:p.Pro696Ser	1691869333
NM_007315.4:c.603G>T	Palestine; Saudi Arabi...	NC_000002.12:g.190998247C>A	Pathogenic	Pathogenic	Immunodeficiency 31B	NG_008294.1:g.21004G>T; NM_007315.4:c.603G>T; NP_009330.1:p.Lys201Asn	587776870	30082
NM_007315.4:c.693_696del	Palestine; United Arab...	NC_000002.12:g.190997946_190997949del		Pathogenic	Immunodeficiency 31B	NG_008294.1:g.21303_21306del; NM_007315.4:c.693_696del; NP_009330.1:p.Ile232MetfsTer4	762060782

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=STAT1 https://medlineplus.gov/genetics/gene/stat1/

Contributors

Asha Deepthi: 13.02.2023
Nada Assaf: 25.01.2016
Pratibha Nair: 23.04.2015

Edit History

Asha Deepthi: 13.02.2023
Sayeeda Hana: 08.06.2022
Sayeeda Hana: 02.06.2022
Pratibha Nair: 23.04.2015

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