BABAM1 - BRISC and BRCA1 A complex member 1 Gene

Also Known as NBA1; HSPC142; MERIT40; C19orf62

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29086

About BABAM1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,267,443-17,279,337 (from NCBI)

This gene has 18 transcripts (splice variants) and 184 orthologues. Ubiquitous expression in brain (RPKM 26.7), placenta (RPKM 25.8) and 25 other tissues.

Summary

Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; positive regulation of DNA repair; and protein K63-linked deubiquitination. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Apr 2022]

BABAM1 Products (4)

mRNA Protein Name
NM_001033549.3 NP_001028721.1 BRISC and BRCA1-A complex member 1 isoform 1
NM_001288756.2 NP_001275685.1 BRISC and BRCA1-A complex member 1 isoform 1
NM_001288757.2 NP_001275686.1 BRISC and BRCA1-A complex member 1 isoform 2
NM_014173.4 NP_054892.2 BRISC and BRCA1-A complex member 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
37398436 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA repair-dependent chromatin remodeling IMP
IMP: Inferred from mutant phenotype
19261746 GOA
involved in double-strand break repair IMP
IMP: Inferred from mutant phenotype
19261746 GOA
involved in mitotic G2 DNA damage checkpoint signaling IMP
IMP: Inferred from mutant phenotype
19261746 GOA
involved in positive regulation of DNA repair IMP
IMP: Inferred from mutant phenotype
19261746 GOA
involved in response to ionizing radiation IMP
IMP: Inferred from mutant phenotype
19261748 GOA
Cellular Component GO Annotation Evidence References Source
part of BRCA1-A complex IDA
IDA: Inferred from direct assay
19261746 GOA
part of BRISC complex IDA
IDA: Inferred from direct assay
19214193 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
19261749 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19261746 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

BRISC and BRCA1-A complex member 1

  • BRCA1-A complex subunit MERIT40

BABAM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
Anti Tag CoIP
33961781
Intra
BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
Anti Tag CoIP
28514442
Intra
BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
Anti Tag CoIP
22153077
Intra
BABAM1 Q9NWV8 TNKS2 Homo sapiens Q9H2K2
FPS
22153077
Intra
BABAM1 Q9NWV8 PMF1 Homo sapiens Q6P1K2
BiLC
37398436
Intra
BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra
BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Validated Y2H
25416956
Intra
BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
25416956
Intra
BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra
BABAM1 Q9NWV8 TRIM27 Homo sapiens P14373
Y2H Array
25416956
Intra
BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Y2H Array
31515488
Intra
BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
19615732
Intra
BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
BRET
37398436
Intra
BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
BiLC
37398436
Intra
BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
33961781
Intra
BABAM1 Q9NWV8 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
28514442
Intra
BABAM1 Q9NWV8 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Arthrogryposis, Renal Dysfunction, And Cholestasis 2

  • ARCS2

  • Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 2

  • Arthrogryposis Renal Dysfunction And Cholestasis 2
Cherubism

  • CRBM

  • Familial Benign Giant-Cell Tumor Of The Jaw

  • Familial Fibrous Dysplasia Of Jaw

  • Familial Multilocular Cystic Disease Of The Jaws
Arthrogryposis, Renal Dysfunction, And Cholestasis 1

  • Arc Syndrome

  • ARCS1

  • Arthrogryposis Renal Dysfunction Cholestasis Syndrome

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

  • Arcs

  • Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome

  • Arthrogryposis, Renal Dysfunction, And Cholestasis

  • Arthrogryposis-Renal Dysfunction-Cholestasis

  • Arthrogryposis - Renal Dysfunction - Cholestasis

  • Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis

  • Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1

  • Arthrogryposis Renal Dysfunction And Cholestasis 1

  • Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

  • Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

  • Kidney Failure

  • Renal Insufficiency
Hereditary Breast Ovarian Cancer Syndrome

  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01331 BABAM1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus BABAM1 VGNC VGNC:102005
Macaca mulatta BABAM1 VGNC VGNC:70126
Mus musculus BABAM1 MGD MGI:1915501
Canis familiaris BABAM1 VGNC VGNC:57303
Rattus norvegicus BABAM1 RGD RGD:1359516
Bos taurus BABAM1 VGNC VGNC:55198
Others BABAM1 NCBI