2. Gene
  3. FAAP100 - FA core complex associated protein 100 Gene

FAAP100 - FA core complex associated protein 100 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as C17orf70

Gene ID: 80233 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17396147 GOA
Cellular Component GO Annotation Evidence Reference 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

FANCAA: Fanconi anemia-associated (449 - 881)

  • 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04654 FAAP100 Human Pre-designed siRNA Set A Pre-designed Sets / 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