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ABRAXAS1 - abraxas 1, BRCA1 A complex subunit Gene

Also Known as ABRA1; CCDC98; FAM175A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84142

About ABRAXAS1

Cytogenetic location: 4q21.23 Genomic coordinates (GRCh38): 4:83,459,517-83,485,100 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 9.6), testis (RPKM 8.6) and 25 other tissues.

Summary

This gene encodes a protein that binds to the C-terminal repeats of breast Cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ABRAXAS1 Products (2)

mRNA	Protein	Name
NM_001345962.2	NP_001332891.1	BRCA1-A complex subunit Abraxas 1 isoform 2
NM_139076.3	NP_620775.2	BRCA1-A complex subunit Abraxas 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables polyubiquitin modification-dependent protein binding	IDA IDA: Inferred from direct assay	19261749	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17525340	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in double-strand break repair	IMP IMP: Inferred from mutant phenotype	17525340	GOA
involved in mitotic G2 DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	17525340	GOA
involved in positive regulation of DNA repair	IMP IMP: Inferred from mutant phenotype	17525340	GOA
involved in response to ionizing radiation	IMP IMP: Inferred from mutant phenotype	17525340	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BRCA1-A complex	IDA IDA: Inferred from direct assay	17525340	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17525340	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
BRCA1-A complex subunit Abraxas 1	abraxas protein

ABRAXAS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABRAXAS1	Q6UWZ7	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	IF	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Pull Down	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	17643121
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	Pull Down	17643121
Intra	ABRAXAS1	Q6UWZ7	BRCA1	Homo sapiens	P38398	SPR	17525340
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1	Anti Bait CoIP	17525340
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1	Anti Tag CoIP	17525340
Intra	ABRAXAS1	Q6UWZ7	BRCC3	Homo sapiens	P46736	Anti Bait CoIP	18077395
Intra	ABRAXAS1	Q6UWZ7	BRCC3	Homo sapiens	P46736	Anti Tag CoIP	18077395
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1-1	Anti Bait CoIP	17643121
Intra	ABRAXAS1	Q6UWZ7	UIMC1	Homo sapiens	Q96RL1-1	Anti Tag CoIP	18077395

Cross: Cross-species interaction Intra: Intraspecies interaction

ABRAXAS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86800	CCDC98 Antibody (YA6493)	WB, ICC/IF, IHC-P, FC	Human

Related Diseases

Diseases	Alias
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
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
Ovarian Endometrioid Adenofibroma
Fanconi Anemia, Complementation Group J	Fanconi Anemia Complementation Group J FANCJ
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

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-RS00113	ABRAXAS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ABRAXAS1	MGD	MGI:1917931
Macaca mulatta	ABRAXAS1	VGNC	VGNC:106536
Canis familiaris	ABRAXAS1	VGNC	VGNC:57405
Rattus norvegicus	ABRAXAS1	RGD	RGD:1305287
Felis catus	ABRAXAS1	VGNC	VGNC:78448
Bos taurus	ABRAXAS1	VGNC	VGNC:53684
Others	ABRAXAS1	NCBI