IFT57 - intraflagellar transport 57 Gene

Also Known as HIPPI; OFD18; MHS4R2; ESRRBL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55081

About IFT57

Cytogenetic location: 3q13.12-q13.13 Genomic coordinates (GRCh38): 3:108,160,812-108,222,424 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 34.1), lung (RPKM 27.3) and 24 other tissues.

Summary

Predicted to enable DNA binding activity. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; and regulation of apoptotic process. Predicted to be located in ciliary basal body. Predicted to be part of axoneme and intraciliary transport particle B. Predicted to be active in Golgi apparatus; centrosome; and cilium. Implicated in orofaciodigital syndrome. [provided by Alliance of Genome Resources, Apr 2022]

IFT57 Products (1)

mRNA	Protein	Name
NM_018010.4	NP_060480.1	intraflagellar transport protein 57 homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11788820	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	11788820	GOA
acts upstream of or within apoptotic process	IDA IDA: Inferred from direct assay	11788820	GOA
acts upstream of or within regulation of apoptotic process	IDA IDA: Inferred from direct assay	11788820	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in ciliary base	IDA IDA: Inferred from direct assay	31637240	GOA
part of intraciliary transport particle B	IPI IPI: Inferred from physical interaction	26980730	GOA
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	31637240	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

IFT57 Protein Structure

IFT57

0
100
200
300
400
429 a.a.

Protein Preferred Names	Protein Names
intraflagellar transport protein 57 homolog	HIP1 protein interactor

IFT57 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	IFT57	Q9NWB7	YAF2	Homo sapiens	Q8IY57-5	Y2H Array	32296183
Intra	IFT57	Q9NWB7	YAF2	Homo sapiens	Q8IY57-5	Y2H Prey Pooling	32296183
Intra	IFT57	Q9NWB7	SKA2	Homo sapiens	Q8WVK7	Y2H Prey Pooling	32296183
Intra	IFT57	Q9NWB7	SKA2	Homo sapiens	Q8WVK7	Y2H Array	32296183
Intra	IFT57	Q9NWB7	BLOC1S2	Homo sapiens	Q6QNY1	Y2H	18188704
Intra	IFT57	Q9NWB7	ZDHHC17	Homo sapiens	Q8IUH5	Y2H Array	24705354
Intra	IFT57	Q9NWB7	ZDHHC17	Homo sapiens	Q8IUH5	Lumier	24705354
Intra	IFT57	Q9NWB7	IFT20	Homo sapiens	Q8IY31-3	Y2H Array	32296183
Intra	IFT57	Q9NWB7	IFT20	Homo sapiens	Q8IY31-3	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Orofaciodigital Syndrome Xviii	Orofaciodigital Syndrome 18 OFD18 Ofds Xviii Oral-Facial-Digital Syndrome, Type Xviii Oral-Facial-Digital Syndrome Xviii
Oral-Facial-Digital Syndrome With Short Stature And Brachymesophalangy	Ofd18 Oral-Facial-Digital Syndrome Type 18 Orofaciodigital Syndrome Type 18
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Spondyloepimetaphyseal Dysplasia, X-Linked	X-Linked Spondyloepimetaphyseal Dysplasia SEMDX Semd, X-Linked Semd X-Linked Spondyloepimetaphyseal Dysplasia X-Linked Spondylo-Epimetaphyseal Dysplasia
Kidney Leiomyosarcoma	Leiomyosarcoma Of Kidney
Nephronophthisis 12	NPHP12 Joubert Syndrome 11 JBTS11 Nephronophthisis, Type 12
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 3 Saldino-Noonan Syndrome SRTD3 Atd3 Srps1 Srps3 Verma-Naumoff Syndrome Srps2b Short Rib-Polydactyly Syndrome, Verma-Naumoff Type Short Rib-Polydactyly Syndrome, Type I Polydactyly With Neonatal Chondrodystrophy, Type I Polydactyly With Neonatal Chondrodystrophy, Type Iii Short Rib-Polydactyly Syndrome, Type Iib Short Rib-Polydactyly Syndrome Type 3 Polydactyly With Neonatal Chondrodystrophy Type Iii Short Rib-Polydactyly Syndrome Type Iii Short Rib-Polydactyly Syndrome Type 1 Short Rib-Polydactyly Syndrome, Saldino-Noonan Type Majewski Syndrome Short Rib-Polydactyly Syndrome, Type Iii Type I Short Rib Polydactyly Syndrome Srps Type 3 Short Rib Polydactyly Syndrome Verma Naumoff Type Verma Naumoff Syndrome Polydactyly With Neonatal Chondrodystrophy Type 1 Srps Type 1 Short Rib-Polydactyly Syndrome Saldino-Noonan Type Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 3 Polydactyly With Neonatal Chondrodystrophy Type I Short Rib-Polydactyly Syndrome Type I Short Rib-Polydactyly Syndrome Type Iib Srps Type Iib Srps Type Iii
Ascaris Lumbricoides Infection	Ascariasis Ascaris Lumbricoides Infection, Susceptibility To Ascariasis, Susceptibility To Ascariasis - Roundworm Infection Due To Ascaris Lumbricoides Ascaridiasis Roundworm Infection Ascaridia Ascaridiosis Ascaridosis Ascariosis Ascaris Ascaris Lumbricoides Infestation Ascaris Infection Infection By Ascaridia
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Weyers Acrofacial Dysostosis	Curry-Hall Syndrome Weyers Acrodental Dysostosis WAD Acrodental Dysostosis Of Weyers Acrofacial Dysostosis, Weyers Type Acrofacial Dysostosis Of Weyers Curry Hall 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
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Short-Rib Thoracic Dysplasia 12	Beemer-Langer Syndrome Type Iv Short Rib Polydactyly Syndrome Short Rib-Polydactyly Syndrome Type 4 Short Rib-Polydactyly Syndrome, Beemer Type SRTD12 Short Rib-Polydactyly Syndrome, Type Iv Srps4 Srps Iv Short Rib Syndrome, Beemer Type Beemer Langer Syndrome Srps Type 4 Short Rib Polydactyly Syndrome Beemer-Langer Type Short Rib-Polydactyly Syndrome Beemer Type Short Rib-Polydactyly Syndrome Type Iv Short Rib-Polydactyly Syndrome, Beemer-Langer Type
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
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
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
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
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
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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-RS06607	IFT57 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	IFT57	MGD	MGI:1921166
Felis catus	IFT57	VGNC	VGNC:62884
Bos taurus	IFT57	VGNC	VGNC:30071
Macaca mulatta	IFT57	VGNC	VGNC:73403
Canis familiaris	IFT57	VGNC	VGNC:41889
Rattus norvegicus	IFT57	RGD	RGD:1305947
Others	IFT57	NCBI