1. Gene
  2. MFHAS1 - multifunctional ROCO family signaling regulator 1 Gene

MFHAS1 - multifunctional ROCO family signaling regulator 1 Gene

中文名称:多功能 ROCO 家族信号调节器 1

种属: Homo sapiens

同用名: MASL1; ROCO4; LRRC65

基因 ID: 9258 | 基因类型: protein coding

关于 MFHAS1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:8,783,354-8,893,630 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 205 orthologues and 31 paralogues. Ubiquitous expression in lung (RPKM 8.7), spleen (RPKM 8.4) and 25 other tissues.

功能概要

在人类 8p 扩增子中鉴定,该基因是一种潜在的致癌基因,其表达在某些恶性纤维组织细胞瘤 (MFH) 中增强。其产品的一级结构包括一个 ATP/GTP 结合位点、三个亮氨酸拉链结构域和一个富含亮氨酸的串联重复序列,它们是与细胞周期相关的蛋白质相互作用的结构或功能元件,表明过度表达可能对 MFH 具有致癌性。[RefSeq 提供,2008 年 7 月]

Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]

MFHAS1 基因产物(1)

mRNA Protein Name
NM_004225.3 NP_004216.2 malignant fibrous histiocytoma-amplified sequence 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTP binding IDA
IDA: 通过直接分析推断
24286120 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23327923 GOA
enables protein phosphatase 2A binding IDA
IDA: 通过直接分析推断
28609714 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
28471450 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
24286120 GOA
NOT located in cytoskeleton IDA
IDA: 通过直接分析推断
24286120 GOA
NOT located in lysosome IDA
IDA: 通过直接分析推断
24286120 GOA
NOT located in mitochondrion IDA
IDA: 通过直接分析推断
24286120 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MFHAS1 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (88 - 147)

LRR_8

LRR_8: Leucine rich repeat (159 - 216)

LRR_8

LRR_8: Leucine rich repeat (228 - 284)

LRR_1

LRR_1: Leucine Rich Repeat (298 - 317)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1052 a.a.
蛋白主名 其他名称

malignant fibrous histiocytoma-amplified sequence 1

MFH-amplified sequences with leucine-rich tandem repeats 1

MFHAS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra MFHAS1 Q9Y4C4 PGRMC2 Homo sapiens O15173
Anti Tag CoIP
33961781
Intra MFHAS1 Q9Y4C4 HSPD1 Homo sapiens P10809
Anti Tag CoIP
24286120
Intra MFHAS1 Q9Y4C4 HSPD1 Homo sapiens P10809
GMS
24286120
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Malignant Fibrous Histiocytoma

Undifferentiated Pleomorphic Sarcoma

Ups

Histiocytoma, Malignant Fibrous

Fibroxanthosarcoma

Mfh

Malignant Fibrohistiocytic Tumors

Histiocytoma, Fibrous, Malignant

Fibrous Histiocytoma

Benign Fibrous Histiocytoma

Histiocytoma, Benign Fibrous

Fibroxanthoma

Histiocytoma Fibrous

Pharynx Squamous Cell Carcinoma
B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

Erythrocytosis, Familial, 7

ECYT7

Erythrocytosis 7

Familial Erythrocytosis 7

Erythrocytosis, Alpha-Globin Type

Polycythemia, Alpha-Globin Type

Alpha-Globin Type Erythrocytosis

Alpha-Globin Type Polycythemia

Erythrocytosis, Familial, 6

ECYT6

Erythrocytosis 6

Familial Erythrocytosis 6

Erythrocytosis, Beta-Globin Type

Polycythemia, Beta-Globin Type

Beta-Globin Type Erythrocytosis

Beta-Globin Type Polycythemia

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Bos taurus MFHAS1 VGNC VGNC:107358
Canis familiaris MFHAS1 VGNC VGNC:107357
Rattus norvegicus MFHAS1 RGD RGD:1308812
Macaca mulatta MFHAS1 VGNC VGNC:107360
Mus musculus MFHAS1 MGD MGI:1098644