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  2. MAP3K3 - mitogen-activated protein kinase kinase kinase 3 Gene

MAP3K3 - mitogen-activated protein kinase kinase kinase 3 Gene

Homo sapiens

Also known as MEKK3; MAPKKK3

Gene ID: 4215 | Gene type: protein coding

About MAP3K3

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,622,417-63,696,305 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and 8 paralogues. Ubiquitous expression in spleen (RPKM 15.4), lung (RPKM 14.5) and 25 other tissues.

Summary

This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

MAP3K3 Products(4)

mRNA Protein Name
NM_001330431.2 NP_001317360.1 mitogen-activated protein kinase kinase kinase 3 isoform 3
NM_001363768.2 NP_001350697.1 mitogen-activated protein kinase kinase kinase 3 isoform 4
NM_002401.5 NP_002392.2 mitogen-activated protein kinase kinase kinase 3 isoform 2
NM_203351.3 NP_976226.1 mitogen-activated protein kinase kinase kinase 3 isoform 1

MAP3K3 Protein Structure

PB1

PB1: PB1 domain (45 - 120)

Pkinase

Pkinase: Protein kinase domain (363 - 621)

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  • 626 a.a.
Protein Preferred Names Protein Names

mitogen-activated protein kinase kinase kinase 3

MAP/ERK kinase kinase 3

Related Diseases

Diseases Alias
Verrucous Hemangioma

Verrucous Keratotic Hemangioma

Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Cerebrocostomandibular Syndrome

Cerebro-Costo-Mandibular Syndrome

CCMS

Rib Gap Defects With Micrognathia

Ccm Syndrome

Ciliary Dyskinesia, Primary, 20

Primary Ciliary Dyskinesia 20

CILD20

Primary Ciliary Dyskinesia 20 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 20, With Or Without Situs Inversus

Ics20

Immotile Cilia Syndrome 20

Dyskinesia, Ciliary, Primary, 20

Non-Syndromic X-Linked Intellectual Disability 107

Mrx107

X-Linked Mental Retardation 107

Cavernous Hemangioma

Hemangioma, Cavernous

Cavernoma

Cavernous Haemangioma

Senile Angioma

Senile Hemangioma

Senile Naevus Of Skin

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome

KTS

Ktw Syndrome

Angioosteohypertrophy Syndrome

Angio-Osteohypertrophy Syndrome

Klippel Trenaunay Syndrome

Klippel-Trénaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Weber-Klippel-Trenaunay

Congenital Dysplastic Angiopathy

Klippel-Trenaunay Disease

Weber Klippel Trenaunay

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris MAP3K3 VGNC VGNC:42973
Bos taurus MAP3K3 VGNC VGNC:31196
Rattus norvegicus MAP3K3 RGD RGD:1304575
Macaca mulatta MAP3K3 VGNC VGNC:81462
Mus musculus MAP3K3 MGD MGI:1346874
Felis catus MAP3K3 VGNC VGNC:97495