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  2. KIAA0753 - KIAA0753 Gene

KIAA0753 - KIAA0753 Gene

中文名称:起亚 0753

种属: Homo sapiens

同用名: MNR; OFIP; JBTS38; SRTD21

基因 ID: 9851 | 基因类型: protein coding

关于 KIAA0753

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:6,578,147-6,640,711 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 6.1), thyroid (RPKM 4.0) and 25 other tissues.

功能概要

该基因编码调节纤毛发生和纤毛维持的蛋白质复合物的一个亚基。编码的蛋白质也被证明可以调节中心粒复制。该基因的突变会导致人类患者出现口面指综合征和一种 Joubert 综合征。[RefSeq 提供,2017 年 5 月]

This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]

KIAA0753 基因产物(2)

mRNA Protein Name
NM_001351225.2 NP_001338154.1 protein moonraker isoform 2
NM_014804.3 NP_055619.2 protein moonraker isoform 1
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IMP
IMP: 通过突变表型推断
28220259 GOA
involved in cytosolic ciliogenesis IMP
IMP: 通过突变表型推断
28220259 GOA
involved in protein localization to centrosome IMP
IMP: 通过突变表型推断
26297806 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriolar satellite IDA
IDA: 通过直接分析推断
26297806 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 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
蛋白主名 其他名称

protein moonraker

OFD1 and FOPNL interacting protein

KIAA0753 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
Intra KIAA0753 Q2KHM9 CCHCR1 Homo sapiens Q8TD31-3
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 TEAD4 Homo sapiens D3DUQ6
Validated Y2H
25416956
Intra KIAA0753 Q2KHM9 TEAD4 Homo sapiens D3DUQ6
Y2H Array
25416956
Intra KIAA0753 Q2KHM9 ZNF114 Homo sapiens Q8NC26
Y2H Prey Pooling
25416956
Intra KIAA0753 Q2KHM9 ZNF114 Homo sapiens Q8NC26
Y2H Array
25416956
Intra KIAA0753 Q2KHM9 ZNF777 Homo sapiens Q9ULD5
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 ROPN1 Homo sapiens Q9HAT0
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 KIFC3 Homo sapiens Q9BVG8-5
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 BHLHA9 Homo sapiens Q7RTU4
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 SMARCD1 Homo sapiens Q96GM5
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 AARD Homo sapiens Q4LEZ3
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 CT55 Homo sapiens Q8WUE5
Y2H Array
25416956
Intra KIAA0753 Q2KHM9 CT55 Homo sapiens Q8WUE5
Validated Y2H
25416956
Intra KIAA0753 Q2KHM9 CT55 Homo sapiens Q8WUE5
Y2H Prey Pooling
25416956
Intra KIAA0753 Q2KHM9 WDR62 Homo sapiens O43379
Anti Bait CoIP
26297806
Intra KIAA0753 Q2KHM9 FAM161A Homo sapiens Q3B820
Y2H Array
25416956
Intra KIAA0753 Q2KHM9 USHBP1 Homo sapiens Q8N6Y0
Y2H Array
25416956
Intra KIAA0753 Q2KHM9 TCHP Homo sapiens Q9BT92
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 TCHP Homo sapiens Q9BT92
BioID
26638075
Intra KIAA0753 Q2KHM9 PCM1 Homo sapiens Q15154
BioID
26638075
Intra KIAA0753 Q2KHM9 MNS1 Homo sapiens Q8NEH6
Validated Y2H
32296183
Intra KIAA0753 Q2KHM9 GCC1 Homo sapiens Q96CN9
Y2H Prey Pooling
25416956
Intra KIAA0753 Q2KHM9 GCC1 Homo sapiens Q96CN9
Y2H Array
25416956
Intra KIAA0753 Q2KHM9 AIRIM Homo sapiens Q9NX04
Validated Y2H
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
Joubert Syndrome 38

JBTS38

Orofaciodigital Syndrome Xv

OFD15

Ofds Xv

Oral-Facial-Digital Syndrome, Type Xv

Orofaciodigital Syndrome 15

Oro-Facio-Digital Syndrome, Xv

Short-Rib Thoracic Dysplasia 21 Without Polydactyly

SRTD21

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

Orofaciodigital Syndrome Vi

OFD6

Varadi-Papp Syndrome

Varadi Syndrome

Joubert Syndrome With Orofaciodigital Defect

Orofaciodigital Syndrome Type 6

Orofaciodigital Syndrome 6

Oral-Facial-Digital Syndrome, Type Vi

Ofds Vi

Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation

Polydactyly Cleft Lip Palate Psychomotor Retardation

Oral-Facial-Digital Syndrome Type 6

Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome

Polydactyly - Cleft Lip/Palate - Psychomotor Retardation

Váradi Syndrome

Váradi-Papp Syndrome

Joubert Syndrome With Oral-Facial-Digital Syndrome

Oral-Facial-Digital Syndrome 6

Joubert-Orofaciodigital Syndrome

Orofaciodigital Syndrome, Type Vi

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy

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

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

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly

SRTD13

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia

Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25

Dee25

Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta

Early Infantile Epileptic Encephalopathy 25

Encephalopathy, Epileptic, Early Infantile, Type 25

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia

Spondylar And Nasal Alterations With Striated Metaphyses

SEMDSP

Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

Spondylar And Nasal Alterations-Striated Metaphyses Syndrome

Spondyloepimetaphyseal Dysplasia Sponastrime Type

Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation

Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia

Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation

Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

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

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

直系同源

种属 基因名 来源 基因 ID
Felis catus KIAA0753 VGNC VGNC:63086
Rattus norvegicus KIAA0753 RGD RGD:1304728
Canis familiaris KIAA0753 VGNC VGNC:42350
Bos taurus KIAA0753 VGNC VGNC:30555
Mus musculus KIAA0753 MGD MGI:1921727
Macaca mulatta KIAA0753 VGNC VGNC:73929