1. Gene
  2. MAP3K1 - mitogen-activated protein kinase kinase kinase 1 Gene

MAP3K1 - mitogen-activated protein kinase kinase kinase 1 Gene

中文名称:有丝分裂原活化蛋白激酶激酶 1

种属: Homo sapiens

同用名: MEKK; MEKK1; SRXY6; MEKK 1; MAPKKK1

基因 ID: 4214 | 基因类型: protein coding

关于 MAP3K1

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:56,815,549-56,896,152 (from NCBI)

This gene has 2 transcripts (splice variants), 161 orthologues, 35 paralogues and is associated with 105 phenotypes. Ubiquitous expression in spleen (RPKM 8.6), skin (RPKM 8.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种丝氨酸/苏氨酸激酶,是一些信号转导级联的一部分,包括 ERKJNK 激酶通路以及 NF-kappa-B 通路。编码的蛋白质被自磷酸化激活,需要镁作为磷酸化其他蛋白质的辅因子。该蛋白在其 N 端具有植物同源结构域 (PHD) 赋予的 E3 连接酶活性,在其 C 端具有激酶结构域赋予的磷酸激酶活性。[RefSeq 提供,2012 年 3 月]

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 Ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

MAP3K1 基因产物(1)

mRNA Protein Name
NM_005921.2 NP_005912.1 mitogen-activated protein kinase kinase kinase 1

MAP3K1 蛋白结构

Pkinase

Pkinase: Protein kinase domain (1245 - 1508)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1512 a.a.
蛋白主名 其他名称

mitogen-activated protein kinase kinase kinase 1

MAP/ERK kinase kinase 1

关联疾病

疾病名称 别名
46,Xy Sex Reversal 6

SRXY6

46,Xy Sex Reversal, Partial Or Complete, Map3k1-Related

46,Xy Gonadal Dysgenesis, Partial Or Complete, Map3k1-Related

46xy Sex Reversal 6

46,Xy Gonadal Dysgenesis Partial Or Complete Map3k1-Related

46,Xy Sex Reversal Partial Or Complete Map3k1-Related

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5

CILD5

Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

Primary Ciliary Dyskinesia 5 Without Situs Inversus

Ics5

Immotile Cilia Syndrome 5

Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 5

Uterine Corpus Endometrial Carcinoma
Breast Mucoepidermoid Carcinoma

Mucoepidermoid Carcinoma Of Breast

Mucoepidermoid Carcinoma Of The Breast

Hypertrophy Of Breast

Breasts Enlarged

Large Breast

Hypertrophy Of Breast Nos

Hypertrophy Of Male Breast

Hypertrophic Breast

Excessive Development Of Breast

Macromastia

Mastoplastia

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Breast Lobular Carcinoma

Cancer, Breast, Lobular

Lobular Breast Carcinoma

Persistent Mullerian Duct Syndrome

Persistent Müllerian Duct Syndrome

Pmds

Persistent Oviduct Syndrome

Persistent Muellerian Duct Syndrome

Female Genital Ducts In Otherwise Normal Male

Hernia Uteri Inguinale

Persistent Mullerian Duct Syndrome, Types 1 And 2

Persistent Mullerian Derivatives

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MAP3K1 VGNC VGNC:81458
Mus musculus MAP3K1 MGD MGI:1346872
Canis familiaris MAP3K1 VGNC VGNC:42966
Bos taurus MAP3K1 VGNC VGNC:31188
Rattus norvegicus MAP3K1 RGD RGD:620966
Felis catus MAP3K1 VGNC VGNC:97493
Others MAP3K1 NCBI