1. Gene
  2. NUMA1 - nuclear mitotic apparatus protein 1 Gene

NUMA1 - nuclear mitotic apparatus protein 1 Gene

中文名称:核有丝分裂器蛋白 1

种属: Homo sapiens

同用名: NUMA; NMP-22

基因 ID: 4926 | 基因类型: protein coding

关于 NUMA1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:72,002,864-72,080,542 (from NCBI)

This gene has 33 transcripts (splice variants), 148 orthologues, 3 paralogues and is associated with 88 phenotypes. Ubiquitous expression in prostate (RPKM 51.4), ovary (RPKM 49.9) and 25 other tissues.

功能概要

该基因编码一种形成核基质结构成分的大蛋白。编码的蛋白质与微管相互作用,并在细胞分裂过程中在有丝分裂纺锤体的形成和组织中发挥作用。已在急性早幼粒细胞白血病患者中检测到该基因与 17 号染色体上的 RARA (视黄酸受体,α) 基因发生染色体易位。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 11 月]

This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

NUMA1 基因产物(2)

mRNA Protein Name
NM_001286561.2 NP_001273490.1 nuclear mitotic apparatus protein 1 isoform 2
NM_006185.4 NP_006176.2 nuclear mitotic apparatus protein 1 isoform 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 disordered domain specific binding IMP
IMP: 通过突变表型推断
20109190 GOA
enables dynein complex binding IDA
IDA: 通过直接分析推断
10811826 GOA
enables microtubule binding IDA
IDA: 通过直接分析推断
11956313 GOA
enables microtubule minus-end binding IDA
IDA: 通过直接分析推断
26765568 GOA
enables microtubule plus-end binding IDA
IDA: 通过直接分析推断
26765568 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
24371089 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11590136 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
22074847 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
11590136 GOA
enables tubulin binding IDA
IDA: 通过直接分析推断
11956313 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in anastral spindle assembly IMP
IMP: 通过突变表型推断
25657325 GOA
involved in astral microtubule organization IDA
IDA: 通过直接分析推断
12445386 GOA
involved in astral microtubule organization IMP
IMP: 通过突变表型推断
12445386 GOA
involved in establishment of mitotic spindle orientation IDA
IDA: 通过直接分析推断
21816348 GOA
involved in establishment of mitotic spindle orientation IMP
IMP: 通过突变表型推断
24996901 GOA
involved in microtubule bundle formation IMP
IMP: 通过突变表型推断
12445386 GOA
involved in positive regulation of chromosome segregation IMP
IMP: 通过突变表型推断
24371089 GOA
involved in positive regulation of chromosome separation IMP
IMP: 通过突变表型推断
23921553 GOA
involved in positive regulation of intracellular transport IMP
IMP: 通过突变表型推断
27462074 GOA
involved in positive regulation of microtubule polymerization IMP
IMP: 通过突变表型推断
12445386 GOA
involved in positive regulation of mitotic spindle elongation IMP
IMP: 通过突变表型推断
23921553 GOA
involved in positive regulation of protein localization to cell cortex IMP
IMP: 通过突变表型推断
22327364 GOA
involved in positive regulation of protein localization to spindle pole body IDA
IDA: 通过直接分析推断
16076287 GOA
involved in positive regulation of spindle assembly IMP
IMP: 通过突变表型推断
27462074 GOA
involved in regulation of metaphase plate congression IMP
IMP: 通过突变表型推断
27462074 GOA
involved in regulation of mitotic spindle organization IDA
IDA: 通过直接分析推断
26195665 GOA
involved in regulation of mitotic spindle organization IMP
IMP: 通过突变表型推断
11956313 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell cortex IDA
IDA: 通过直接分析推断
22327364 GOA
located in cell cortex region IDA
IDA: 通过直接分析推断
21816348 GOA
located in centrosome IDA
IDA: 通过直接分析推断
7962183 GOA
located in cortical microtubule IDA
IDA: 通过直接分析推断
26765568 GOA
located in cytoplasmic microtubule bundle IDA
IDA: 通过直接分析推断
12445386 GOA
located in cytosol IDA
IDA: 通过直接分析推断
7962183 GOA
located in microtubule bundle IDA
IDA: 通过直接分析推断
11956313 GOA
located in microtubule minus-end IDA
IDA: 通过直接分析推断
26765568 GOA
located in microtubule plus-end IDA
IDA: 通过直接分析推断
26765568 GOA
located in mitotic spindle IDA
IDA: 通过直接分析推断
10811826 GOA
located in mitotic spindle astral microtubule IDA
IDA: 通过直接分析推断
1541636 GOA
located in mitotic spindle midzone IDA
IDA: 通过直接分析推断
10811826 GOA
located in mitotic spindle pole IDA
IDA: 通过直接分析推断
1541636 GOA
located in mitotic spindle pole IMP
IMP: 通过突变表型推断
17172455 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
7962183 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
10811826 GOA
located in nucleus IDA
IDA: 通过直接分析推断
1541636 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24371089 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
22074847 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
20109190 GOA
located in spindle microtubule IDA
IDA: 通过直接分析推断
1541636 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
14718566 GOA
located in spindle pole centrosome IDA
IDA: 通过直接分析推断
10811826 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
蛋白主名 其他名称

nuclear mitotic apparatus protein 1

SP-H antigen

NUMA1 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 NUMA1 Q14980 FLJ13057 Homo sapiens Q53SE7
Y2H Array
25416956
Intra NUMA1 Q14980 KRT4 Homo sapiens P19013
Crosslink
30021884
Intra NUMA1 Q14980 GNAI1 Homo sapiens P63096
Pull Down
15537540
Intra NUMA1 Q14980 GPSM2 Homo sapiens P81274
Pull Down
15537540
Intra NUMA1 Q14980 GPSM2 Homo sapiens P81274
IF
15537540
Intra NUMA1 Q14980 RAE1 Homo sapiens P78406
Anti Tag CoIP
35271311
Intra NUMA1 Q14980 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
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
Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Bladder Calculus

Urinary Bladder Calculi

Urinary Bladder Stone

Bladder Calculi

Bladder Stone

Urinary Bladder Calculus

Vesical Calculi

Vesical Calculus

Vesicolithiasis

Cystolithiasis

Cystic Calculi

Cystic Calculus

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Ureter Adenocarcinoma

Adenocarcinoma Of Ureter

Ureteral Adenocarcinoma

Non-Invasive Bladder Papillary Urothelial Neoplasm

Bladder Papillary Neoplasm Of Low Malignant Potential

Bladder Punlmp

Papillary Urothelial Neoplasm Of Low Malignant Potential

Papillary Transitional Cell Neoplasm Of Low Malignant Potential

Cherubism

CRBM

Familial Benign Giant-Cell Tumor Of The Jaw

Familial Fibrous Dysplasia Of Jaw

Familial Multilocular Cystic Disease Of The Jaws

Ureter, Cancer Of

Ureter Carcinoma

Ureter Cancer

Ureteral Neoplasms

Malignant Neoplasm Of Ureter

Malignant Tumour Of Ureter

Malignant Ureteral Tumor

Ureteral Carcinoma

Ureteral Neoplasm

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Bladder Papillary Transitional Cell Neoplasm

Urinary Bladder Papillary Urothelial Neoplasm

Bladder Papillary Urothelial Neoplasm

Urinary Tract Papillary Transitional Cell Benign Neoplasm

Inverted Papilloma Of Urinary Tract

Papillary Transitional Cell Neoplasm Of The Urinary Tract

Urinary Tract Inverted Papilloma

Inverted Urothelial Papilloma

Bladder Carcinoma In Situ

Carcinoma In Situ Of Bladder

Bladder Ca In Situ

Flat Cis Of The Urinary Bladder

Carcinoma In Situ Of Urinary Bladder

Transitional Cell Carcinoma

Transitional Cell Neoplasm

Carcinoma, Transitional Cell

Transitional Carcinoma

Transitional Cell Tumor

Urothelial Cell Carcinoma

Carcinoma Transitional Cell

Transitional Cell Carcinoma Of Bladder

Pyuria

Pus Cells In Urine

Invasive Bladder Transitional Cell Carcinoma

Invasive Bladder Urothelial Carcinoma

Infiltrating Bladder Urothelial Carcinoma

Chronic Cystitis
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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 NUMA1 VGNC VGNC:32348
Rattus norvegicus NUMA1 RGD RGD:1308777
Macaca mulatta NUMA1 VGNC VGNC:75556
Felis catus NUMA1 VGNC VGNC:68594
Canis familiaris NUMA1 VGNC VGNC:44042
Mus musculus NUMA1 MGD MGI:2443665