FBF1 - Fas binding factor 1 Gene

Also Known as Alb; FBF-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 85302

About FBF1

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,909,574-75,941,042 (from NCBI)

This gene has 11 transcripts (splice variants) and 142 orthologues. Broad expression in testis (RPKM 14.5), skin (RPKM 4.2) and 22 other tissues.

Summary

Involved in apical junction assembly and establishment of epithelial cell polarity. Acts upstream of or within cilium assembly. Located in centriole; centrosome; and spindle pole. Part of ciliary transition fiber. Colocalizes with apical junction complex and keratin filament. [provided by Alliance of Genome Resources, Apr 2022]

FBF1 Products (1)

mRNA Protein Name
NM_001319193.2 NP_001306122.1 fas-binding factor 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
18838552 GOA
Biological Process GO Annotation Evidence References Source
involved in apical junction assembly IMP
IMP: Inferred from mutant phenotype
18838552 GOA
acts upstream of or within cilium assembly IMP
IMP: Inferred from mutant phenotype
23348840 GOA
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
23348840 GOA
involved in establishment of epithelial cell polarity IMP
IMP: Inferred from mutant phenotype
18838552 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with apical junction complex IDA
IDA: Inferred from direct assay
18838552 GOA
located in centriole IDA
IDA: Inferred from direct assay
23348840 GOA
part of ciliary transition fiber IDA
IDA: Inferred from direct assay
23348840 GOA
colocalizes with keratin filament IDA
IDA: Inferred from direct assay
18838552 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
21399614 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

fas-binding factor 1

  • Fas (TNFRSF6) binding factor 1

Related Diseases

Diseases Alias
Hydrolethalus Syndrome 1

  • Hydrolethalus Syndrome

  • HLS1

  • Salonen-Herva-Norio Syndrome

  • Hls

  • Hydrolethalus

  • Hydrolethalus Syndrome, Type 1
Nephronophthisis 18

  • NPHP18

  • Nephronophthisis, Type 18
Spinocerebellar Ataxia 11

  • Spinocerebellar Ataxia Type 11

  • SCA11

  • Spinocerebellar Ataxia-11

  • Ataxia, Spinocerebellar, Type 11
Orofaciodigital Syndrome I

  • OFD1

  • Orofaciodigital Syndrome 1

  • Oral-Facial-Digital Syndrome, Type I

  • Oral-Facial-Digital Syndrome 1

  • Ofds I

  • Papillon-Leage And Psaume Syndrome

  • Papillon-Leage-Psaume Syndrome

  • Oral-Facial-Digital Syndrome Type 1

  • Orofaciodigital Syndrome Type 1

  • Orofaciodigital Syndromes

  • Orofaciodigital Syndrome Type I

  • Oral-Facial-Digital Syndrome Type I

  • Ofd Syndrome 1

  • Ofds 1

  • Oral Facial Digital Syndrome 1

  • Oral Facial Digital Syndrome Type 1

  • Papillon-League-Psaume Syndrome

  • Ofdi

  • Ofdsi

  • Orofaciodigital Syndrome, Type I
Bardet-Biedl Syndrome

  • Bbs

  • Biedl-Bardet Syndrome
Nephronophthisis

  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary
Meckel Syndrome, Type 1

  • Meckel-Gruber Syndrome

  • Meckel Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1
Joubert Syndrome 1

  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome
Asphyxiating Thoracic Dystrophy

  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Primary Ciliary Dyskinesia

  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary
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-RS04767 FBF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus FBF1 MGD MGI:1922033
Bos taurus FBF1 VGNC VGNC:55830
Rattus norvegicus FBF1 RGD RGD:1310662
Felis catus FBF1 VGNC VGNC:62163
Canis familiaris FBF1 VGNC VGNC:51955
Macaca mulatta FBF1 VGNC VGNC:99151
Others FBF1 NCBI