BABAM1 (BRISC and BRCA1 A complex member 1)

2011-02-01  

Identity

HGNC
BABAM1
LOCATION
19p13.11
LOCUSID
29086
ALIAS
C19orf62,HSPC142,MERIT40,NBA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29086
MIM: 612766
HGNC: 25008
Ensembl: ENSG00000105393

Variants:

dbSNP: 29086
ClinVar: 29086
TCGA: ENSG00000105393
COSMIC: BABAM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105393ENST00000359435Q9NWV8
ENSG00000105393ENST00000359435A0A024R7L2
ENSG00000105393ENST00000447614J3KQS6
ENSG00000105393ENST00000594247M0QXG9
ENSG00000105393ENST00000595632J3KQS6
ENSG00000105393ENST00000596335M0R193
ENSG00000105393ENST00000598188Q9NWV8
ENSG00000105393ENST00000598188A0A024R7L2
ENSG00000105393ENST00000598567M0QYV1
ENSG00000105393ENST00000599057M0R3F4
ENSG00000105393ENST00000599474M0R2K3
ENSG00000105393ENST00000601043Q9NWV8
ENSG00000105393ENST00000601043A0A024R7L2
ENSG00000105393ENST00000601171M0R3H9
ENSG00000105393ENST00000601232M0QZ44
ENSG00000105393ENST00000601436M0R2A4
ENSG00000105393ENST00000601938M0R2I2
ENSG00000105393ENST00000602066M0R0I0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Homologous recombinationKEGGko03440
Homologous recombinationKEGGhsa03440
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
DeubiquitinationREACTOMER-HSA-5688426
Metalloprotease DUBsREACTOMER-HSA-5689901

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208526332010Common variants at 19p13 are associated with susceptibility to ovarian cancer.136
208526332010Common variants at 19p13 are associated with susceptibility to ovarian cancer.136
192617492009NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control.93
192617462009MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks.78
192617482009MERIT40 facilitates BRCA1 localization and DNA damage repair.77
212821132011NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes.34
195721972010Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families.6
246676042014Role of MERIT40 in stabilization of BRCA1 complex: a protein-protein interaction study.2
268487702016Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women.2
214318732011Germline mutational analysis of the C19orf62 gene in African-American women with breast cancer.0

Citation

Dessen P

BABAM1 (BRISC and BRCA1 A complex member 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52077/babam1-(brisc-and-brca1-a-complex-member-1)