1. Gene
  2. TULP3 - TUB like protein 3 Gene

TULP3 - TUB like protein 3 Gene

中文名称:TUB 样蛋白 3

种属: Homo sapiens

同用名: HRCDF; TUBL3

基因 ID: 7289 | 基因类型: protein coding

关于 TULP3

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:2,890,891-2,941,138 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues and 5 paralogues. Ubiquitous expression in ovary (RPKM 20.1), endometrium (RPKM 13.4) and 23 other tissues.

功能概要

该基因编码二分转录因子 tubby 基因家族的成员。该家族的成员已在植物、脊椎动物和无脊椎动物中被发现,它们共享一个保守的 N 端转录激活区和一个保守的 C 端 DNA 和磷脂酰肌醇-磷酸盐结合区。编码的蛋白质通过其 C 末端区域与质膜中的磷酸肌醇结合,并可能作为膜结合转录调节剂发挥作用,响应磷酸肌醇水解而转移到细胞核,例如,由 G 蛋白偶联受体信号传导诱导.它在神经元发育和功能中起着重要作用。已经为该基因鉴定了编码不同亚型的两个转录物变体。[RefSeq 提供,2009 年 5 月]

This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in Plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]

TULP3 基因产物(2)

mRNA Protein Name
NM_001160408.2 NP_001153880.1 tubby-related protein 3 isoform 2
NM_003324.5 NP_003315.2 tubby-related protein 3 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 G protein-coupled receptor binding IDA
IDA: 通过直接分析推断
28154160 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
23382074 GOA
enables intraciliary transport particle A binding IDA
IDA: 通过直接分析推断
20889716 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
20889716 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22190034 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
20889716 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in 9+0 non-motile cilium IDA
IDA: 通过直接分析推断
20889716 GOA
located in ciliary base IDA
IDA: 通过直接分析推断
20889716 GOA
located in cilium IDA
IDA: 通过直接分析推断
20889716 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20889716 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
28154160 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

TULP3 蛋白结构

Tub

Tub: Tub family (195 - 436)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 442 a.a.
蛋白主名 其他名称

tubby-related protein 3

tubby like protein 3

TULP3 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
TULP3 O75386 ANKRD54 Homo sapiens Q6NXT1 32296183
种属内
TULP3 O75386 ANKRD54 Homo sapiens Q6NXT1 32296183
种属内
TULP3 O75386 ANKRD54 Homo sapiens Q6NXT1 33961781
种属内
TULP3 O75386 ANKRD54 Homo sapiens Q6NXT1 32296183
种属内
TULP3 O75386 ANKRD54 Homo sapiens Q6NXT1 28514442
种属内
TULP3 O75386 KRTAP10-5 Homo sapiens P60370 25416956
种属内
TULP3 O75386 KRTAP10-7 Homo sapiens P60409 25416956
种属内
TULP3 O75386 MAGEA6 Homo sapiens P43360 32296183
种属内
TULP3 O75386 MAGEA6 Homo sapiens P43360 25416956
种属内
TULP3 O75386 MAGEA6 Homo sapiens P43360 32296183
种属内
TULP3 O75386 MAGEA6 Homo sapiens P43360 25416956
种属内
TULP3 O75386 MAGEA6 Homo sapiens P43360 32296183
种属内
TULP3 O75386 PSTPIP1 Homo sapiens O43586 32296183
种属内
TULP3 O75386 PSTPIP1 Homo sapiens O43586 25416956
种属内
TULP3 O75386 PSTPIP1 Homo sapiens O43586 32296183
种属内
TULP3 O75386 ROPN1 Homo sapiens Q9HAT0 25416956
种属内
TULP3 O75386 ROPN1 Homo sapiens Q9HAT0 25416956
种属内
TULP3 O75386 BACH2 Homo sapiens Q9BYV9 33961781
种属内
TULP3 O75386 BACH2 Homo sapiens Q9BYV9 32296183
种属内
TULP3 O75386 BACH2 Homo sapiens Q9BYV9 28514442
种属内
TULP3 O75386 BACH2 Homo sapiens Q9BYV9 32296183
种属内
TULP3 O75386 BACH2 Homo sapiens Q9BYV9 32296183
种属内
TULP3 O75386 HSF2BP Homo sapiens O75031 32296183
种属内
TULP3 O75386 HSF2BP Homo sapiens O75031 32296183
种属间
TULP3 O75386 vpr Human immunodeficiency virus P12520 22190034
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
Hepatorenocardiac Degenerative Fibrosis

HRCDF

Spina Bifida Occulta
Joubert Syndrome 22

JBTS22

Joubert Syndrome, Type 22

Fraser Syndrome 2

FRASRS2

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

Nephronophthisis 12

NPHP12

Joubert Syndrome 11

JBTS11

Nephronophthisis, Type 12

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

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

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

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

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

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

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

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

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

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

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

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus TULP3 MGD MGI:1329045
Canis familiaris TULP3 VGNC VGNC:47998
Macaca mulatta TULP3 VGNC VGNC:78677
Rattus norvegicus TULP3 RGD RGD:1585259
Bos taurus TULP3 VGNC VGNC:36521
Felis catus TULP3 VGNC VGNC:66712