2. Gene
  3. TBCD - tubulin folding cofactor D Gene

TBCD - tubulin folding cofactor D Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：微管蛋白折叠辅助因子 D

种属: Homo sapiens

同用名: tfcD; PEBAT; SSD-1

基因 ID: 6904 | 基因类型: protein coding

关于 TBCD

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:82,752,065-82,945,914 (from NCBI)

This gene has 58 transcripts (splice variants), 1 gene allele, 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.2), thyroid (RPKM 5.0) and 25 other tissues.

功能概要

辅因子 D 是四种蛋白质 (辅因子 A、D、E 和 C) 之一，参与从折叠中间体到正确折叠的 β-微管蛋白的通路。辅因子 A 和 D 被认为在捕获和稳定 β-微管蛋白中间体中发挥作用，这在准天然证实中发挥了作用。辅因子 E 与辅因子 D/β-微管蛋白复合物结合；然后与辅因子 C 的相互作用会导致释放处于天然状态的 β-微管蛋白多肽。[RefSeq 提供，2008 年 7 月]

Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]

TBCD 基因产物(3)

mRNA Protein Name
NM_001411101.1 NP_001398030.1 tubulin-specific chaperone D isoform 2
NM_001411102.1 NP_001398031.1 tubulin-specific chaperone D isoform 3
NM_005993.5 NP_005984.3 tubulin-specific chaperone D 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 GTPase activator activity IDA
IDA: 通过直接分析推断
20740604 GOA
enables GTPase activator activity IMP
IMP: 通过突变表型推断
10831612 GOA
enables beta-tubulin binding IDA
IDA: 通过直接分析推断
10831612 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10831612 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell morphogenesis involved in neuron differentiation IMP
IMP: 通过突变表型推断
27666374 GOA
involved in mitotic cell cycle IMP
IMP: 通过突变表型推断
27666370 GOA
involved in negative regulation of microtubule polymerization IDA
IDA: 通过直接分析推断
10831612 GOA
involved in post-chaperonin tubulin folding pathway IDA
IDA: 通过直接分析推断
11847227 GOA
involved in protein folding IDA
IDA: 通过直接分析推断
20740604 GOA
involved in tubulin complex assembly IDA
IDA: 通过直接分析推断
28158450 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
27666370 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

TBCD 蛋白结构

TFCD_C

TFCD_C: Tubulin folding cofactor D C terminal (896 - 1087)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1192 a.a.
蛋白主名 其他名称

tubulin-specific chaperone D

beta-tubulin cofactor D

TBCD 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 TBCD Q9BTW9 ACD Homo sapiens Q96AP0
Pull Down
21044950
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
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum

Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome

PEBAT
Seborrhea-Like Dermatitis With Psoriasiform Elements

SLDP
Corneal Dystrophy, Reis-Bucklers Type

Reis-Bucklers Corneal Dystrophy

Rbcd

CDRB

Cdb1

Corneal Dystrophy Of Bowman Layer Type I

Geographic Corneal Dystrophy

Granular Corneal Dystrophy Type Iii

Reis-Bucklers' Corneal Dystrophy

Anterior Limiting Membrane Dystrophy Type I

Corneal Dystrophy Of Bowman Layer Type 1

Corneal Dystrophy Of Bowman Layer, Type I

Corneal Dystrophy, Geographic

Granular Corneal Dystrophy, Type Iii

Corneal Dystrophy Reis Bucklers Type

Corneal Dystrophy Geographic

Reis Bucklers Corneal Dystrophy

Reis Bucklers Dystrophy

Anterior Limiting Membrane Dystrophy Type 1

Atypical Granular Corneal Dystrophy

Granular Corneal Dystrophy Type 3

Superficial Granular Corneal Dystrophy

Corneal Dystrophy Of Bowman Layer, Type 1

Dystrophy, Corneal, Reis-Bucklers Type
Corneal Dystrophy, Thiel-Behnke Type

Thiel-Behnke Corneal Dystrophy

Tbcd

CDTB

Cdb2

Corneal Dystrophy Of Bowman Layer Type Ii

Anterior Limiting Membrane Dystrophy Type Ii

Waardenburg-Jonker Corneal Dystrophy

Corneal Dystrophy Of Bowman Layer, Type Ii

Corneal Dystrophy, Honeycomb-Shaped

Corneal Dystrophy Honeycomb-Shaped

Corneal Dystrophy Thiel Behnke Type

Corneal Dystrophy Honeycomb Shaped

Corneal Dystrophy Of The Bowman Layer Type 2

Thiel Behnke Corneal Dystrophy

Anterior Limiting Membrane Dystrophy Type 2

Corneal Dystrophy Of Bowman Layer Type 2

Curly Fiber Corneal Dystrophy

Honeycomb Corneal Dystrophy

Honeycomb-Shaped Corneal Dystrophy

Dystrophy, Corneal, Thiel-Behnke Type
Retinitis Pigmentosa 13

RP13

Retinitis Pigmentosa-13

Retinitis Pigmentosa, Type 13
Epithelial Basement Membrane Dystrophy

Ebmd

Corneal Dystrophy, Epithelial Basement Membrane

Cogan Corneal Dystrophy

Microcystic Corneal Dystrophy

Anterior Basement Membrane Dystrophy

Cogan Microcystic Epithelial Dystrophy

Map-Dot-Fingerprint Dystrophy

Microscopic Cystic Corneal Dystrophy
Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy

Quadriplegic Infantile Cerebral Palsy

Tetraplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Quadriplegic

Quadriplegic Cerebral Palsy

Spastic Quadriplegia Cerebral Palsy

Spastic Tetraplegia Cerebral Palsy

Cerebral Palsy, Quadriplegic, Infantile

Cerebral Palsy With Spastic Tetraplegia

Congenital Spastic Quadriplegia

Spastic Tetraplegic Cerebral Palsy

Congenital Quadriplegia Nos

Tetraplegic Cerebral Palsy
Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy

CDA

Combined Granular-Lattice Corneal Dystrophy

Cgd2

Granular Corneal Dystrophy Type 2

Acd

Granular Corneal Dystrophy 2

Corneal Dystrophy Avellino Type

Granular Corneal Dystrophy Type Ii

Granular Corneal Dystrophy, Type Ii

Combined Granular-Lattice Corneal Dystrophies

Granular And Lattice Corneal Dystrophies

Granular-Lattice Corneal Dystrophy

Gcd2

Gcdii

Granular-Lattice Corneal Dystrophy
Granular Corneal Dystrophy

Granular Dystrophy Corneal

Corneal Dystrophies, Hereditary

Hereditary Corneal Dystrophy

Corneal Dystrophy Nos

Familial Hereditary Corneal Degeneration

Hereditary Corneal Opacity
Epithelial-Stromal Tgfbi Dystrophy
Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Sanjad-Sakati Syndrome

Hrd Syndrome

HRDS

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome

Richardson-Kirk Syndrome

Sss

Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay

Hypoparathyroidism With Short Stature, Mental Retardation And Seizures

Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay
Corneal Deposit

Deposits - Cornea
Retinitis Pigmentosa 2

RP2

X-Linked Retinitis Pigmentosa 2

Xlrp2

Xlrp-2

Retinitis Pigmentosa-2

Retinitis Pigmentosa, Type 2
Tubulinopathy

Tubulinopathies
Epithelial And Subepithelial Dystrophy
Kenny-Caffey Syndrome

Kenny Syndrome
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V
Intellectual Developmental Disorder, Autosomal Dominant 43

MRD43

Autosomal Dominant Non-Syndromic Intellectual Disability 43

Autosomal Dominant Intellectual Developmental Disorder 43

Autosomal Dominant Mental Retardation 43
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Psoriasis 7

PSORS7

Psoriasis 7, Susceptibility To

Psoriasis Susceptibility 7

Psoriasis

Psoriasis Vulgaris

Pv
Quadriplegia

Tetraplegia

Tetraplegias
Macular Dystrophy, Patterned, 2

Patterned Macular Dystrophy 2

MDPT2

Macular Dystrophy, Butterfly-Shaped Pigmentary, 2

Butterfly-Shaped Pigmentary Maculary Dystrophy 2
Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome

Macrocephaly-Intellectual Disability-Autism Syndrome

MCEPHAS
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14253 TBCD Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus TBCD VGNC VGNC:65995
Canis familiaris TBCD VGNC VGNC:47156
Rattus norvegicus TBCD RGD RGD:2320148
Bos taurus TBCD VGNC VGNC:35652
Mus musculus TBCD MGD MGI:1919686
Macaca mulatta TBCD VGNC VGNC:78106
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