DUSP1

dual specificity phosphatase 1, the group of MAP kinase phosphatases

Basic information

Region (hg38): 5:172768096-172771195

Previous symbols: [ "PTPN10" ]

Links

ENSG00000120129 ∙ NCBI:1843 ∙ OMIM:600714 ∙ HGNC:3064 ∙ Uniprot:P28562 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DUSP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in DUSP1

This is a list of pathogenic ClinVar variants found in the DUSP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-172768779-T-C		not specified	Uncertain significance (Apr 11, 2023)
5-172768854-C-A		not specified	Uncertain significance (Oct 05, 2023)
5-172768869-T-C		not specified	Uncertain significance (Nov 27, 2024)
5-172768878-C-G		not specified	Uncertain significance (Apr 19, 2024)
5-172768913-G-C		not specified	Uncertain significance (Jul 19, 2022)
5-172768916-C-A		not specified	Uncertain significance (Aug 10, 2021)
5-172769011-A-G			Likely benign (Apr 16, 2018)
5-172769121-T-C		not specified	Uncertain significance (Feb 21, 2024)
5-172769130-A-C		not specified	Uncertain significance (Feb 12, 2024)
5-172769646-T-C		not specified	Uncertain significance (Oct 20, 2023)
5-172769704-C-T		not specified	Uncertain significance (Feb 26, 2024)
5-172769719-C-A		not specified	Uncertain significance (May 13, 2024)
5-172769719-C-T		not specified	Uncertain significance (Jan 16, 2024)
5-172770201-T-C		not specified	Uncertain significance (Feb 17, 2024)
5-172770219-C-A		not specified	Uncertain significance (Nov 15, 2024)
5-172770220-T-C		not specified	Uncertain significance (Sep 20, 2023)
5-172770271-G-C		not specified	Uncertain significance (Apr 26, 2024)
5-172770611-G-C			Likely benign (Apr 26, 2018)
5-172770628-G-A		not specified	Uncertain significance (Nov 14, 2023)
5-172770645-G-A		not specified	Uncertain significance (Jun 28, 2024)
5-172770678-G-T		not specified	Uncertain significance (Mar 07, 2023)
5-172770748-C-T		not specified	Uncertain significance (Sep 03, 2024)
5-172770774-A-G		not specified	Uncertain significance (Apr 13, 2023)
5-172770778-C-A		not specified	Uncertain significance (May 06, 2022)
5-172770835-T-C		not specified	Uncertain significance (Jun 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP1	protein_coding	protein_coding	ENST00000239223	4	3106

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0102	0.948	125740	0	7	125747	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.72	120	186	0.645	0.00000988	2358
Missense in Polyphen		29	61.6	0.47078		756
Synonymous	-0.872	93	82.9	1.12	0.00000498	776
Loss of Function	1.77	5	11.5	0.436	7.26e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000867	0.0000867
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000606	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000267	0.0000264
Middle Eastern	0.0000606	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle. {ECO:0000250|UniProtKB:P28563}.
• Pathway: Serotonergic synapse - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);EGF-Ncore;MAPK Signaling Pathway;Signal Transduction;mechanism of gene regulation by peroxisome proliferators via ppara;regulation of map kinase pathways through dual specificity phosphatases;nfkb activation by nontypeable hemophilus influenzae;ATF-2 transcription factor network;RAF-independent MAPK1/3 activation;ErbB1 downstream signaling;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;Direct p53 effectors;Fc-epsilon receptor I signaling in mast cells;AP-1 transcription factor network;Regulation of p38-alpha and p38-beta (Consensus)

Recessive Scores

• pRec: 0.298

Haploinsufficiency Scores

• pHI: 0.457
• hipred: Y
• hipred_score: 0.849
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dusp1
• Phenotype: immune system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: inactivation of MAPK activity;negative regulation of cell adhesion;negative regulation of cell population proliferation;response to light stimulus;response to estradiol;response to retinoic acid;cellular response to hormone stimulus;response to testosterone;peptidyl-tyrosine dephosphorylation;intracellular signal transduction;peptidyl-threonine dephosphorylation;response to hydrogen peroxide;positive regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of MAP kinase activity;negative regulation of MAPK cascade;response to glucocorticoid;negative regulation of meiotic cell cycle;response to cAMP;response to calcium ion;peptidyl-serine dephosphorylation;negative regulation of ERK1 and ERK2 cascade;mitotic cell cycle arrest;negative regulation of monocyte chemotaxis;regulation of mitotic cell cycle spindle assembly checkpoint;negative regulation of p38MAPK cascade;cellular response to chemokine;negative regulation of DNA biosynthetic process
• Cellular component: nucleus;cytoplasm
• Molecular function: protein serine/threonine phosphatase activity;protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;protein tyrosine/threonine phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity;growth factor binding;mitogen-activated protein kinase binding