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FAAP100 - FA core complex associated protein 100 Gene

Also Known as C17orf70

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80233

About FAAP100

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,539,891-81,553,133 (from NCBI)

This gene has 7 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in spleen (RPKM 8.4), prostate (RPKM 5.1) and 25 other tissues.

Summary

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

FAAP100 Products (1)

mRNA	Protein	Name
NM_025161.6	NP_079437.5	Fanconi anemia core complex-associated protein 100 isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17396147	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	22343915	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

FAAP100 Protein Structure

FANCAA

0
200
400
600
800
881 a.a.

Protein Preferred Names	Protein Names
Fanconi anemia core complex-associated protein 100	Fanconi anemia associated protein 100 kDa subunit

FAAP100 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FAAP100	Q0VG06	FANCB	Homo sapiens	Q8NB91	Anti Bait CoIP	17396147
Intra	FAAP100	Q0VG06	FANCB	Homo sapiens	Q8NB91	Protein 3 Hybrid	17396147
Intra	FAAP100	Q0VG06	FANCB	Homo sapiens	Q8NB91	Y2H	17396147
Intra	FAAP100	Q0VG06	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780

Cross: Cross-species interaction Intra: Intraspecies interaction

FAAP100 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810052	FAAP100 Antibody (YA9396)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Fanconi Anemia, Complementation Group O	Fanconi Anemia Complementation Group O FANCO
Fanconi Anemia, Complementation Group Q	Fanconi Anemia Complementation Group Q FANCQ
Fanconi Anemia, Complementation Group T	Fanconi Anemia Complementation Group T FANCT
Fanconi Anemia, Complementation Group I	Fanconi Anemia Complementation Group I FANCI
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
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos

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-RS04654	FAAP100 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FAAP100	VGNC	VGNC:62032
Rattus norvegicus	FAAP100	RGD	RGD:1306926
Canis familiaris	FAAP100	VGNC	VGNC:40556
Bos taurus	FAAP100	VGNC	VGNC:28693
Macaca mulatta	FAAP100	VGNC	VGNC:72363
Mus musculus	FAAP100	MGD	MGI:1919135
Others	FAAP100	NCBI