IFT57 - intraflagellar transport 57 Gene

中文名称：鞭毛内运输 57

种属: Homo sapiens

同用名: HIPPI; OFD18; MHS4R2; ESRRBL1

基因 ID: 55081 | 基因类型: protein coding

关于 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.

功能概要

预测启用 DNA 结合活性。在参与细胞凋亡过程的半胱氨酸型内肽酶活性的激活上游或内部起作用；凋亡过程；和细胞凋亡过程的调节。预计位于睫状体基部。预测为轴丝和纤毛内运输粒子 B 的一部分。预测在高尔基体中活跃；中心体；和纤毛。与口面指综合症有关。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	11788820	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: 通过直接分析推断	11788820	GOA
acts upstream of or within apoptotic process	IDA IDA: 通过直接分析推断	11788820	GOA
acts upstream of or within regulation of apoptotic process	IDA IDA: 通过直接分析推断	11788820	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in ciliary base	IDA IDA: 通过直接分析推断	31637240	GOA
part of intraciliary transport particle B	IPI IPI: 通过物理相互作用推断	26980730	GOA
located in photoreceptor connecting cilium	IDA IDA: 通过直接分析推断	31637240	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

IFT57 蛋白结构

IFT57

0
100
200
300
400
429 a.a.

蛋白主名

其他名称

intraflagellar transport protein 57 homolog

HIP1 protein interactor

IFT57 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	IFT57	Q9NWB7	YAF2	Homo sapiens	Q8IY57-5	Y2H Array	32296183
种属内	IFT57	Q9NWB7	YAF2	Homo sapiens	Q8IY57-5	Y2H Prey Pooling	32296183
种属内	IFT57	Q9NWB7	SKA2	Homo sapiens	Q8WVK7	Y2H Prey Pooling	32296183
种属内	IFT57	Q9NWB7	SKA2	Homo sapiens	Q8WVK7	Y2H Array	32296183
种属内	IFT57	Q9NWB7	BLOC1S2	Homo sapiens	Q6QNY1	Y2H	18188704
种属内	IFT57	Q9NWB7	ZDHHC17	Homo sapiens	Q8IUH5	Y2H Array	24705354
种属内	IFT57	Q9NWB7	ZDHHC17	Homo sapiens	Q8IUH5	Lumier	24705354
种属内	IFT57	Q9NWB7	IFT20	Homo sapiens	Q8IY31-3	Y2H Array	32296183
种属内	IFT57	Q9NWB7	IFT20	Homo sapiens	Q8IY31-3	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06607	IFT57 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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