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

NUMA1 - nuclear mitotic apparatus protein 1 Gene

Homo sapiens

Also known as NUMA; NMP-22

Gene ID: 4926 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables disordered domain specific binding IMP
IMP: Inferred from mutant phenotype
20109190 GOA
enables dynein complex binding IDA
IDA: Inferred from direct assay
10811826 GOA
enables microtubule binding IDA
IDA: Inferred from direct assay
11956313 GOA
enables microtubule minus-end binding IDA
IDA: Inferred from direct assay
26765568 GOA
enables microtubule plus-end binding IDA
IDA: Inferred from direct assay
26765568 GOA
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
24371089 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11590136 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
22074847 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
11590136 GOA
enables tubulin binding IDA
IDA: Inferred from direct assay
11956313 GOA
Biological Process GO Annotation Evidence Reference Source
involved in anastral spindle assembly IMP
IMP: Inferred from mutant phenotype
25657325 GOA
involved in astral microtubule organization IDA
IDA: Inferred from direct assay
12445386 GOA
involved in astral microtubule organization IMP
IMP: Inferred from mutant phenotype
12445386 GOA
involved in establishment of mitotic spindle orientation IDA
IDA: Inferred from direct assay
21816348 GOA
involved in establishment of mitotic spindle orientation IMP
IMP: Inferred from mutant phenotype
24996901 GOA
involved in microtubule bundle formation IMP
IMP: Inferred from mutant phenotype
12445386 GOA
involved in positive regulation of chromosome segregation IMP
IMP: Inferred from mutant phenotype
24371089 GOA
involved in positive regulation of chromosome separation IMP
IMP: Inferred from mutant phenotype
23921553 GOA
involved in positive regulation of intracellular transport IMP
IMP: Inferred from mutant phenotype
27462074 GOA
involved in positive regulation of microtubule polymerization IMP
IMP: Inferred from mutant phenotype
12445386 GOA
involved in positive regulation of mitotic spindle elongation IMP
IMP: Inferred from mutant phenotype
23921553 GOA
involved in positive regulation of protein localization to cell cortex IMP
IMP: Inferred from mutant phenotype
22327364 GOA
involved in positive regulation of protein localization to spindle pole body IDA
IDA: Inferred from direct assay
16076287 GOA
involved in positive regulation of spindle assembly IMP
IMP: Inferred from mutant phenotype
27462074 GOA
involved in regulation of metaphase plate congression IMP
IMP: Inferred from mutant phenotype
27462074 GOA
involved in regulation of mitotic spindle organization IDA
IDA: Inferred from direct assay
26195665 GOA
involved in regulation of mitotic spindle organization IMP
IMP: Inferred from mutant phenotype
11956313 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cell cortex IDA
IDA: Inferred from direct assay
22327364 GOA
located in cell cortex region IDA
IDA: Inferred from direct assay
21816348 GOA
located in centrosome IDA
IDA: Inferred from direct assay
7962183 GOA
located in cortical microtubule IDA
IDA: Inferred from direct assay
26765568 GOA
located in cytoplasmic microtubule bundle IDA
IDA: Inferred from direct assay
12445386 GOA
located in cytosol IDA
IDA: Inferred from direct assay
7962183 GOA
located in microtubule bundle IDA
IDA: Inferred from direct assay
11956313 GOA
located in microtubule minus-end IDA
IDA: Inferred from direct assay
26765568 GOA
located in microtubule plus-end IDA
IDA: Inferred from direct assay
26765568 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
10811826 GOA
located in mitotic spindle astral microtubule IDA
IDA: Inferred from direct assay
1541636 GOA
located in mitotic spindle midzone IDA
IDA: Inferred from direct assay
10811826 GOA
located in mitotic spindle pole IDA
IDA: Inferred from direct assay
1541636 GOA
located in mitotic spindle pole IMP
IMP: Inferred from mutant phenotype
17172455 GOA
located in nuclear matrix IDA
IDA: Inferred from direct assay
7962183 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
10811826 GOA
located in nucleus IDA
IDA: Inferred from direct assay
1541636 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
24371089 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
22074847 GOA
part of protein-containing complex IMP
IMP: Inferred from mutant phenotype
20109190 GOA
located in spindle microtubule IDA
IDA: Inferred from direct assay
1541636 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
14718566 GOA
located in spindle pole centrosome IDA
IDA: Inferred from direct assay
10811826 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

nuclear mitotic apparatus protein 1

SP-H antigen

NUMA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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
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