MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.3.2.27	Transferases; Acyltransferases; Aminoacyltransferases; RING-type E3 ubiquitin transferase

Structure

PDB	Resolution (Å)	PDB name
1JM7		Solution structure of the BRCA1/BARD1 RING-domain heterodimer
1JNX	2.5	Crystal structure of the BRCT repeat region from the breast cancer associated protein, BRCA1
1N5O	2.8	Structural consequences of a cancer-causing BRCA1-BRCT missense mutation
1OQA		Solution structure of the BRCT-c domain from human BRCA1
1T15	1.85	Crystal Structure of the Brca1 BRCT Domains in Complex with the Phosphorylated Interacting Region from Bach1 Helicase
1T29	2.3	Crystal structure of the BRCA1 BRCT repeats bound to a phosphorylated BACH1 peptide
1T2U	2.8	Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1: structure of BRCA1 missense variant V1809F
1T2V	3.3	Structural basis of phospho-peptide recognition by the BRCT domain of BRCA1, structure with phosphopeptide
1Y98	2.5	Structure of the BRCT repeats of BRCA1 bound to a CtIP phosphopeptide.
2ING	3.6	X-ray Structure of the BRCA1 BRCT mutant M1775K
3COJ	3.21	Crystal Structure of the BRCT Domains of Human BRCA1 in Complex with a Phosphorylated Peptide from Human Acetyl-CoA Carboxylase 1
3K0H	2.7	The crystal structure of BRCA1 BRCT in complex with a minimal recognition tetrapeptide with an amidated C-terminus
3K0K	2.7	Crystal Structure of BRCA1 BRCT in complex with a minimal recognition tetrapeptide with a free carboxy C-terminus.
3K15	2.8	Crystal Structure of BRCA1 BRCT D1840T in complex with a minimal recognition tetrapeptide with an amidated C-terminus
3K16	3.0	Crystal Structure of BRCA1 BRCT D1840T in complex with a minimal recognition tetrapeptide with a free carboxy C-terminus
3PXA	2.55	Impact of BRCA1 BRCT domain missense substitutions on phospho-peptide recognition: G1656D
3PXB	2.5	Impact of BRCA1 BRCT domain missense substitutions on phospho-peptide recognition: T1700A
3PXC	2.8	Impact of BRCA1 BRCT domain missense substitutions on phospho-peptide recognition: R1699Q
3PXD	2.8	Impact of BRCA1 BRCT domain missense substitutions on phospho-peptide recognition: R1835P
3PXE	2.85	Impact of BRCA1 BRCT domain missense substitutions on phospho-peptide recognition: E1836K
4IFI	2.2	Structure of human BRCA1 BRCT in complex with BAAT peptide
4IGK	1.75	Structure of human BRCA1 BRCT in complex with ATRIP peptide
4JLU	3.5	Crystal structure of BRCA1 BRCT with doubly phosphorylated Abraxas
4OFB	3.05	Crystal structure of human BRCA1 BRCT in complex with nonphosphopeptide inhibitor
4U4A	3.51	Complex Structure of BRCA1 BRCT with singly phospho Abraxas
4Y18	3.5	Structure of BRCA1 BRCT domains in complex with Abraxas double phosphorylated peptide
4Y2G	2.5	Structure of BRCA1 BRCT domains in complex with Abraxas single phosphorylated peptide
6G2I	5.9	Filament of acetyl-CoA carboxylase and BRCT domains of BRCA1 (ACC-BRCT) at 5.9 A resolution
7JZV	3.9	Cryo-EM structure of the BRCA1-UbcH5c/BARD1 E3-E2 module bound to a nucleosome
7LYB	3.28	Cryo-EM structure of the human nucleosome core particle in complex with BRCA1-BARD1-UbcH5c

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006974	DNA damage response
Biological Process	GO:0006281	DNA repair
Biological Process	GO:0110025	DNA strand resection involved in replication fork processing
Biological Process	GO:0071681	cellular response to indole-3-methanol
Biological Process	GO:0071479	cellular response to ionizing radiation
Biological Process	GO:0071356	cellular response to tumor necrosis factor
Biological Process	GO:0007098	centrosome cycle
Biological Process	GO:0043009	chordate embryonic development
Biological Process	GO:0007059	chromosome segregation
Biological Process	GO:0009048	dosage compensation by inactivation of X chromosome
Biological Process	GO:0006302	double-strand break repair
Biological Process	GO:0000724	double-strand break repair via homologous recombination
Biological Process	GO:0006633	fatty acid biosynthetic process
Biological Process	GO:0070537	histone H2A K63-linked deubiquitination
Biological Process	GO:0035518	histone H2A monoubiquitination
Biological Process	GO:0035825	homologous recombination
Biological Process	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
Biological Process	GO:0051179	localization
Biological Process	GO:0007095	mitotic G2 DNA damage checkpoint signaling
Biological Process	GO:0044818	mitotic G2/M transition checkpoint
Biological Process	GO:0045892	negative regulation of DNA-templated transcription
Biological Process	GO:0045786	negative regulation of cell cycle
Biological Process	GO:0030308	negative regulation of cell growth
Biological Process	GO:0046600	negative regulation of centriole replication
Biological Process	GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
Biological Process	GO:0045717	negative regulation of fatty acid biosynthetic process
Biological Process	GO:0051572	negative regulation of histone H3-K4 methylation
Biological Process	GO:0051573	negative regulation of histone H3-K9 methylation
Biological Process	GO:0035067	negative regulation of histone acetylation
Biological Process	GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway
Biological Process	GO:2000378	negative regulation of reactive oxygen species metabolic process
Biological Process	GO:0045739	positive regulation of DNA repair
Biological Process	GO:0045893	positive regulation of DNA-templated transcription
Biological Process	GO:0045766	positive regulation of angiogenesis
Biological Process	GO:0010628	positive regulation of gene expression
Biological Process	GO:0051571	positive regulation of histone H3-K4 methylation
Biological Process	GO:2000617	positive regulation of histone H3-K9 acetylation
Biological Process	GO:0051574	positive regulation of histone H3-K9 methylation
Biological Process	GO:2000620	positive regulation of histone H4-K16 acetylation
Biological Process	GO:0070512	positive regulation of histone H4-K20 methylation
Biological Process	GO:0035066	positive regulation of histone acetylation
Biological Process	GO:0031398	positive regulation of protein ubiquitination
Biological Process	GO:0045944	positive regulation of transcription by RNA polymerase II
Biological Process	GO:0010575	positive regulation of vascular endothelial growth factor production
Biological Process	GO:0006301	postreplication repair
Biological Process	GO:0085020	protein K6-linked ubiquitination
Biological Process	GO:0051865	protein autoubiquitination
Biological Process	GO:0000209	protein polyubiquitination
Biological Process	GO:0016567	protein ubiquitination
Biological Process	GO:2000001	regulation of DNA damage checkpoint
Biological Process	GO:0044030	regulation of DNA methylation
Biological Process	GO:0006282	regulation of DNA repair
Biological Process	GO:0051726	regulation of cell cycle
Biological Process	GO:0006349	regulation of gene expression by genomic imprinting
Biological Process	GO:0006357	regulation of transcription by RNA polymerase II
Biological Process	GO:0043627	response to estrogen
Biological Process	GO:0010212	response to ionizing radiation
Molecular Function	GO:0003677	DNA binding
Molecular Function	GO:0003723	RNA binding
Molecular Function	GO:0070063	RNA polymerase binding
Molecular Function	GO:0003684	damaged DNA binding
Molecular Function	GO:0019899	enzyme binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0002039	p53 binding
Molecular Function	GO:0000976	transcription cis-regulatory region binding
Molecular Function	GO:0003713	transcription coactivator activity
Molecular Function	GO:0015631	tubulin binding
Molecular Function	GO:0031625	ubiquitin protein ligase binding
Molecular Function	GO:0004842	ubiquitin-protein transferase activity
Molecular Function	GO:0008270	zinc ion binding
Cellular Component	GO:0070531	BRCA1-A complex
Cellular Component	GO:0070532	BRCA1-B complex
Cellular Component	GO:0031436	BRCA1-BARD1 complex
Cellular Component	GO:0070533	BRCA1-C complex
Cellular Component	GO:1990391	DNA repair complex
Cellular Component	GO:0001741	XY body
Cellular Component	GO:0005694	chromosome
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0000931	gamma-tubulin ring complex
Cellular Component	GO:0043232	intracellular non-membrane-bounded organelle
Cellular Component	GO:0000800	lateral element
Cellular Component	GO:0001673	male germ cell nucleus
Cellular Component	GO:0016604	nuclear body
Cellular Component	GO:0000152	nuclear ubiquitin ligase complex
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0032991	protein-containing complex
Cellular Component	GO:1990904	ribonucleoprotein complex
Cellular Component	GO:0000151	ubiquitin ligase complex

InterPro / Pfam

InterPro	InterPro name
IPR001357	BRCT domain
IPR001841	Zinc finger, RING-type
IPR011364	Breast cancer type 1 susceptibility protein (BRCA1)
IPR013083	Zinc finger, RING/FYVE/PHD-type
IPR017907	Zinc finger, RING-type, conserved site
IPR018957	Zinc finger, C3HC4 RING-type
IPR025994	BRCA1, serine-rich domain
IPR031099	BRCA1-associated
IPR036420	BRCT domain superfamily

Pfam	Pfam name
PF00097	Zinc finger, C3HC4 type (RING finger)
PF00533	BRCA1 C Terminus (BRCT) domain
PF12820	Serine-rich domain associated with BRCT

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1221632	Meiotic synapsis	Leaf	R-HSA-1640170	Cell Cycle
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-5685938	HDR through Single Strand Annealing (SSA)	Leaf	R-HSA-73894	DNA Repair
R-HSA-5685942	HDR through Homologous Recombination (HRR)	Internal node	R-HSA-73894	DNA Repair
R-HSA-5689901	Metalloprotease DUBs	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	Leaf	R-HSA-73894	DNA Repair
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	Leaf	R-HSA-73894	DNA Repair
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates	Leaf	R-HSA-73894	DNA Repair
R-HSA-5693571	Nonhomologous End-Joining (NHEJ)	Leaf	R-HSA-73894	DNA Repair
R-HSA-5693579	Homologous DNA Pairing and Strand Exchange	Internal node	R-HSA-73894	DNA Repair
R-HSA-5693607	Processing of DNA double-strand break ends	Leaf	R-HSA-73894	DNA Repair
R-HSA-5693616	Presynaptic phase of homologous DNA pairing and strand exchange	Leaf	R-HSA-73894	DNA Repair
R-HSA-6796648	TP53 Regulates Transcription of DNA Repair Genes	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-69473	G2/M DNA damage checkpoint	Internal node	R-HSA-1640170	Cell Cycle
R-HSA-8951664	Neddylation	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-8953750	Transcriptional Regulation by E2F6	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-912446	Meiotic recombination	Leaf	R-HSA-1640170	Cell Cycle
R-HSA-9663199	Defective DNA double strand break response due to BRCA1 loss of function	Leaf	R-HSA-1643685	Disease
R-HSA-9699150	Defective DNA double strand break response due to BARD1 loss of function	Leaf	R-HSA-1643685	Disease
R-HSA-9701192	Defective homologous recombination repair (HRR) due to BRCA1 loss of function	Leaf	R-HSA-1643685	Disease
R-HSA-9704331	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	Leaf	R-HSA-1643685	Disease
R-HSA-9704646	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	Leaf	R-HSA-1643685	Disease
R-HSA-9709570	Impaired BRCA2 binding to RAD51	Leaf	R-HSA-1643685	Disease
R-HSA-9709603	Impaired BRCA2 binding to PALB2	Leaf	R-HSA-1643685	Disease
R-HSA-9755511	KEAP1-NFE2L2 pathway	Internal node	R-HSA-8953897	Cellular responses to stimuli

Subcellular location

Location	ECO term	Pubmed
Chromosome	ECO:0000269	PubMed:23269703
Chromosome	ECO:0000269	PubMed:25472942
Chromosome	ECO:0000269	PubMed:26778126
Cytoplasm	ECO:0000269	PubMed:20160719
Cytoplasm	ECO:0000269	PubMed:8972225
Nucleus	ECO:0000269	PubMed:15133502
Nucleus	ECO:0000269	PubMed:17525340
Nucleus	ECO:0000269	PubMed:20160719
Nucleus	ECO:0000269	PubMed:21144835
Nucleus	ECO:0000269	PubMed:26778126
Nucleus	ECO:0000269	PubMed:9528852

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000035	Abnormal testis morphology
HP:0000047	Hypospadias
HP:0000072	Hydroureter
HP:0000079	Abnormality of the urinary system
HP:0000083	Renal insufficiency
HP:0000130	Abnormality of the uterus
HP:0000135	Hypogonadism
HP:0000175	Cleft palate
HP:0000189	Narrow palate
HP:0000215	Thick upper lip vermilion
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000430	Underdeveloped nasal alae
HP:0000453	Choanal atresia
HP:0000463	Anteverted nares
HP:0000478	Abnormality of the eye
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000492	Abnormal eyelid morphology
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000520	Proptosis
HP:0000527	Long eyelashes
HP:0000568	Microphthalmia
HP:0000581	Blepharophimosis
HP:0000582	Upslanted palpebral fissure
HP:0000639	Nystagmus
HP:0000689	Dental malocclusion
HP:0000750	Delayed speech and language development
HP:0000813	Bicornuate uterus
HP:0000819	Diabetes mellitus
HP:0000864	Abnormality of the hypothalamus-pituitary axis
HP:0000952	Jaundice
HP:0000989	Pruritus
HP:0001000	Abnormality of skin pigmentation
HP:0001053	Hypopigmented skin patches
HP:0001172	Abnormal thumb morphology
HP:0001199	Triphalangeal thumb
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001347	Hyperreflexia
HP:0001392	Abnormality of the liver
HP:0001426	Multifactorial inheritance
HP:0001428	Somatic mutation
HP:0001433	Hepatosplenomegaly
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001511	Intrauterine growth retardation
HP:0001537	Umbilical hernia
HP:0001562	Oligohydramnios
HP:0001572	Macrodontia
HP:0001631	Atrial septal defect
HP:0001636	Tetralogy of Fallot
HP:0001639	Hypertrophic cardiomyopathy
HP:0001643	Patent ductus arteriosus
HP:0001646	Abnormal aortic valve morphology
HP:0001671	Abnormal cardiac septum morphology
HP:0001679	Abnormal aortic morphology
HP:0001738	Exocrine pancreatic insufficiency
HP:0001760	Abnormal foot morphology
HP:0001763	Pes planus
HP:0001770	Toe syndactyly
HP:0001824	Weight loss
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0001873	Thrombocytopenia
HP:0001882	Leukopenia
HP:0001903	Anemia
HP:0001945	Fever
HP:0002007	Frontal bossing
HP:0002017	Nausea and vomiting
HP:0002019	Constipation
HP:0002023	Anal atresia
HP:0002027	Abdominal pain
HP:0002039	Anorexia
HP:0002119	Ventriculomegaly
HP:0002245	Meckel diverticulum
HP:0002251	Aganglionic megacolon
HP:0002254	Intermittent diarrhea
HP:0002414	Spina bifida
HP:0002575	Tracheoesophageal fistula
HP:0002586	Peritonitis
HP:0002650	Scoliosis
HP:0002664	Neoplasm
HP:0002716	Lymphadenopathy
HP:0002817	Abnormality of the upper limb
HP:0002823	Abnormality of femur morphology
HP:0002827	Hip dislocation
HP:0002861	Melanoma
HP:0002863	Myelodysplasia
HP:0002894	Neoplasm of the pancreas
HP:0002896	Neoplasm of the liver
HP:0002910	Elevated hepatic transaminase
HP:0003002	Breast carcinoma
HP:0003003	Colon cancer
HP:0003022	Hypoplasia of the ulna
HP:0003220	Abnormality of chromosome stability
HP:0003270	Abdominal distention
HP:0003418	Back pain
HP:0003596	Middle age onset
HP:0004209	Clinodactyly of the 5th finger
HP:0004322	Short stature
HP:0004349	Reduced bone mineral density
HP:0004389	Intestinal pseudo-obstruction
HP:0004396	Poor appetite
HP:0005249	Functional intestinal obstruction
HP:0005344	Abnormal carotid artery morphology
HP:0005522	Pyridoxine-responsive sideroblastic anemia
HP:0006101	Finger syndactyly
HP:0006265	Aplasia/Hypoplasia of fingers
HP:0006501	Aplasia/Hypoplasia of the radius
HP:0006725	Pancreatic adenocarcinoma
HP:0006824	Cranial nerve paralysis
HP:0007400	Irregular hyperpigmentation
HP:0007565	Multiple cafe-au-lait spots
HP:0007874	Almond-shaped palpebral fissure
HP:0008053	Aplasia/Hypoplasia of the iris
HP:0008070	Sparse hair
HP:0008572	External ear malformation
HP:0008678	Renal hypoplasia/aplasia
HP:0009623	Proximal placement of thumb
HP:0010293	Aplasia/Hypoplasia of the uvula
HP:0010469	Absent testis
HP:0011027	Abnormal fallopian tube morphology
HP:0011463	Childhood onset
HP:0011985	Acholic stools
HP:0012041	Decreased fertility in males
HP:0012125	Prostate cancer
HP:0012210	Abnormal renal morphology
HP:0012334	Extrahepatic cholestasis
HP:0012378	Fatigue
HP:0012432	Chronic fatigue
HP:0012639	Abnormal nervous system morphology
HP:0012745	Short palpebral fissure
HP:0025318	Ovarian carcinoma
HP:0030084	Clinodactyly
HP:0030406	Primary peritoneal carcinoma
HP:0040012	Chromosome breakage
HP:0040071	Abnormal morphology of ulna
HP:0100026	Arteriovenous malformation
HP:0100542	Abnormal localization of kidney
HP:0100574	Biliary tract neoplasm
HP:0100587	Abnormal preputium morphology
HP:0100592	Peritoneal abscess
HP:0100615	Ovarian neoplasm
HP:0100760	Clubbing of toes
HP:0100867	Duodenal stenosis

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Approved
adrenal gland	glandular cells	Medium	Approved
appendix	glandular cells	Medium	Approved
appendix	lymphoid tissue	Medium	Approved
bone marrow	hematopoietic cells	Medium	Approved
breast	adipocytes	Low	Approved
breast	glandular cells	Medium	Approved
breast	myoepithelial cells	Medium	Approved
caudate	glial cells	Low	Approved
caudate	neuronal cells	Medium	Approved
cerebellum	Purkinje cells	Medium	Approved
cerebellum	cells in granular layer	Low	Approved
cerebellum	cells in molecular layer	Low	Approved
cerebral cortex	endothelial cells	Medium	Approved
cerebral cortex	glial cells	Low	Approved
cerebral cortex	neuronal cells	Medium	Approved
cerebral cortex	neuropil	Low	Approved
cervix	glandular cells	Medium	Approved
cervix	squamous epithelial cells	Medium	Approved
colon	endothelial cells	Low	Approved
colon	glandular cells	Medium	Approved
colon	peripheral nerve/ganglion	Low	Approved
duodenum	glandular cells	Medium	Approved
endometrium 1	cells in endometrial stroma	Low	Approved
endometrium 1	glandular cells	Medium	Approved
endometrium 2	cells in endometrial stroma	Low	Approved
endometrium 2	glandular cells	Medium	Approved
epididymis	glandular cells	Medium	Approved
esophagus	squamous epithelial cells	Medium	Approved
fallopian tube	non-ciliated cells	Medium	Approved
gallbladder	glandular cells	Medium	Approved
heart muscle	cardiomyocytes	Low	Approved
hippocampus	glial cells	Low	Approved
hippocampus	neuronal cells	Low	Approved
kidney	cells in glomeruli	Medium	Approved
kidney	cells in tubules	Medium	Approved
liver	cholangiocytes	Low	Approved
liver	hepatocytes	Low	Approved
lung	alveolar cells	Medium	Approved
lung	macrophages	Medium	Approved
lymph node	germinal center cells	High	Approved
lymph node	non-germinal center cells	Medium	Approved
nasopharynx	ciliated cells (cell body)	Medium	Approved
oral mucosa	squamous epithelial cells	Medium	Approved
ovary	follicle cells	Medium	Approved
ovary	ovarian stroma cells	Low	Approved
pancreas	exocrine glandular cells	Medium	Approved
pancreas	pancreatic endocrine cells	Medium	Approved
placenta	decidual cells	Medium	Approved
placenta	trophoblastic cells	Medium	Approved
prostate	glandular cells	Medium	Approved
rectum	glandular cells	Medium	Approved
salivary gland	glandular cells	Low	Approved
seminal vesicle	glandular cells	Medium	Approved
skeletal muscle	myocytes	Low	Approved
skin 1	Langerhans	Medium	Approved
skin 1	fibroblasts	Medium	Approved
skin 1	keratinocytes	Medium	Approved
skin 1	melanocytes	Medium	Approved
skin 2	epidermal cells	High	Approved
small intestine	glandular cells	Medium	Approved
smooth muscle	smooth muscle cells	Low	Approved
soft tissue 1	chondrocytes	Low	Approved
soft tissue 1	fibroblasts	Low	Approved
soft tissue 1	peripheral nerve	Low	Approved
soft tissue 2	chondrocytes	Low	Approved
soft tissue 2	fibroblasts	Low	Approved
soft tissue 2	peripheral nerve	Low	Approved
spleen	cells in red pulp	Low	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
testis	Leydig cells	Medium	Approved
testis	cells in seminiferous ducts	Medium	Approved
thyroid gland	glandular cells	Medium	Approved
tonsil	germinal center cells	Medium	Approved
tonsil	non-germinal center cells	Medium	Approved
tonsil	squamous epithelial cells	Medium	Approved
urinary bladder	urothelial cells	Medium	Approved
vagina	squamous epithelial cells	Medium	Approved

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
fanconi anemia complementation group a	MONDO:0009215	D61	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism	OMIM:227650
breast-ovarian cancer, familial, susceptibility to, 1	MONDO:0011450	C50	chapter2, Neoplasms	OMIM:604370
breast-ovarian cancer, familial, susceptibility to, 1	MONDO:0011450	C56	chapter2, Neoplasms	OMIM:604370
pancreatic cancer- susceptibility to- 4	MONDO:0013685	C25	chapter2, Neoplasms	OMIM:614320
familial pancreatic carcinoma	MONDO:0015278	C25	chapter2, Neoplasms	OMIM:260350	Orphanet:1333
fanconi anemia, complementation group s	MONDO:0054748	D61	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism	OMIM:617883

Summary of P38398

Gene: BRCA1, RNF53
Protein: Breast cancer type 1 susceptibility protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P38398

Gene: BRCA1, RNF53 Protein: Breast cancer type 1 susceptibility protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: BRCA1, RNF53
Protein: Breast cancer type 1 susceptibility protein