BABAM1 - BRISC and BRCA1 A complex member 1 Gene

Homo sapiens

Also known as NBA1; HSPC142; MERIT40; C19orf62

Gene ID: 29086 | Gene type: protein coding

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

Protein Preferred Names

Protein Names

BRISC and BRCA1-A complex member 1

BRCA1-A complex subunit MERIT40

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01331	BABAM1 Human Pre-designed siRNA Set A		/	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

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