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  2. STAMBP - STAM binding protein Gene

STAMBP - STAM binding protein Gene

中文名称:STAM 结合蛋白

种属: Homo sapiens

同用名: AMSH; MICCAP

基因 ID: 10617 | 基因类型: protein coding

关于 STAMBP

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:73,828,961-73,873,656 (from NCBI)

This gene has 71 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 4.9), brain (RPKM 4.5) and 25 other tissues.

功能概要

JAK-STAT 级联中细胞因子介导的信号转导需要衔接分子的参与。一种这样的信号转导衔接分子包含诱导 MYC 和细胞生长所需的 SH3 结构域。由该基因编码的蛋白质与信号转导衔接分子的 SH3 结构域结合,并在细胞因子介导的 MYC 诱导和细胞周期进程信号传导中发挥关键作用。已为该基因发现编码相同蛋白质同种型的多个可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

STAMBP 基因产物(13)

mRNA Protein Name
NM_001353967.2 NP_001340896.1 STAM-binding protein isoform 1
NM_001353968.2 NP_001340897.1 STAM-binding protein isoform 1
NM_001353969.2 NP_001340898.1 STAM-binding protein isoform 2
NM_001353970.2 NP_001340899.1 STAM-binding protein isoform 2
NM_001353971.2 NP_001340900.1 STAM-binding protein isoform 3
NM_001353972.2 NP_001340901.1 STAM-binding protein isoform 3
NM_001353973.2 NP_001340902.1 STAM-binding protein isoform 3
NM_001353974.2 NP_001340903.1 STAM-binding protein isoform 3
NM_001353975.2 NP_001340904.1 STAM-binding protein isoform 3
NM_001353976.2 NP_001340905.1 STAM-binding protein isoform 4
NM_006463.6 NP_006454.1 STAM-binding protein isoform 1
NM_201647.4 NP_964010.1 STAM-binding protein isoform 1
NM_213622.4 NP_998787.1 STAM-binding protein isoform 1

STAMBP 蛋白结构

USP8_dimer

USP8_dimer: USP8 dimerisation domain (13 - 116)

JAB

JAB: JAB1/Mov34/MPN/PAD-1 ubiquitin protease (254 - 360)

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  • 424 a.a.
蛋白主名 其他名称

STAM-binding protein

associated molecule with the SH3 domain of STAM

关联疾病

疾病名称 别名
Microcephaly-Capillary Malformation Syndrome

Mic-Cap Syndrome

MICCAP

Mic-Cm Syndrome

Microcephaly-Cutaneous Capillary Malformation Syndrome

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags Syndrome

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 STAMBP VGNC VGNC:77935
Rattus norvegicus STAMBP RGD RGD:619963
Mus musculus STAMBP MGD MGI:1917777
Bos taurus STAMBP VGNC VGNC:35356
Felis catus STAMBP VGNC VGNC:65747
Others STAMBP NCBI