TBCD - tubulin folding cofactor D Gene

Also Known as tfcD; PEBAT; SSD-1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6904

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables GTPase activator activity	IDA IDA: Inferred from direct assay	20740604	GOA
enables GTPase activator activity	IMP IMP: Inferred from mutant phenotype	10831612	GOA
enables beta-tubulin binding	IDA IDA: Inferred from direct assay	10831612	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10831612	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cell morphogenesis involved in neuron differentiation	IMP IMP: Inferred from mutant phenotype	27666374	GOA
involved in mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	27666370	GOA
involved in negative regulation of microtubule polymerization	IDA IDA: Inferred from direct assay	10831612	GOA
involved in post-chaperonin tubulin folding pathway	IDA IDA: Inferred from direct assay	11847227	GOA
involved in protein folding	IDA IDA: Inferred from direct assay	20740604	GOA
involved in tubulin complex assembly	IDA IDA: Inferred from direct assay	28158450	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in centrosome	IDA IDA: Inferred from direct assay	27666370	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

TBCD Protein Structure

TFCD_C

0
200
400
600
800
1000
1192 a.a.

Protein Preferred Names	Protein Names
tubulin-specific chaperone D	beta-tubulin cofactor D

TBCD Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	TBCD	Q9BTW9	ACD	Homo sapiens	Q96AP0	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS14253	TBCD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	TBCD	NCBI