1. Gene
  2. FBF1 - Fas binding factor 1 Gene

FBF1 - Fas binding factor 1 Gene

Homo sapiens

Also known as Alb; FBF-1

Gene ID: 85302 | Gene type: protein coding

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
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

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