TBCD tubulin folding cofactor D [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBCDprovided by HGNC
Official Full Name: tubulin folding cofactor Dprovided by HGNC
Primary source: HGNC:HGNC:11581
See related: Ensembl:ENSG00000141556 MIM:604649; AllianceGenome:HGNC:11581
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: tfcD; PEBAT; SSD-1
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]
Expression: Ubiquitous expression in testis (RPKM 5.2), thyroid (RPKM 5.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 58

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (82752065..82945914)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (83626412..83817896)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (80709941..80903790)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].
Title: [MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].
We present a detailed description of the neuropathology and MR imaging characteristics of a subset of these patients, adding insight into the phenotype of TBCD-related encephalopathy. The finding of a Faroese founder variant will allow targeted genetic diagnostics in patients of Faroese descent as well as improved genetic counseling and testing of at-risk couples.
Title: A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.
Study identified a homozygous novel pathogenic missense mutation (c.1423G > A;p.Ala475Thr) in TBCD gene to be associated with concurrent hypofibrinogenemia and cortical atrophy.
Title: Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.
TBCD protein was localized in the middle region and in the tail of the sperm while in the oocyte the localization was cytosolic.
Title: Expression and localization of tubulin cofactors TBCD and TBCE in human gametes.
Authors conclude that TBCD is a novel functional contributor to the mammalian cerebral cortex development, and that the pathological mechanism resulting from the mutations we describe is likely to involve compromised interactions with one or more TBCD-interacting effectors that influence the dynamics and behaviour of the neuronal cytoskeleton.
Title: Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
conclude that the TBCD*ARL2*beta-tubulin complex represents a functional intermediate in the beta-tubulin folding pathway whose activity is regulated by the cycling of nucleotides on ARL2
Title: Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin.
Results identified ARL2 and TBCD, as important in tubulin folding and microtubule dynamics. Both ARL2 and TBCD also localize to centrosomes. [review]
Title: Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions.
variants. We identified two candidate homozygous missense variants, R942Q in the tubulin-folding cofactor D (TBCD) gene and H250Q in the bromo-adjacent homology domain and coiled-coil containing 1 (BAHCC1) gene, located on chromosome 17q25.3 with an interval of 1.4 Mbp.
Title: TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.
Intractable epilepsy, intellectual disability and acquired microcephaly, and cortical atrophy and thinned corpus callosum as major MRI features, caused by biallelic variants in TBCD.
Title: Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of a neurodegenerative encephalopathy.
Title: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MedGen: C5567454 OMIM: 617193 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC0WH042 (e-PCR)
- UniSTS:80400

G62613 (e-PCR)
- UniSTS:139593

RH98714 (e-PCR)
- UniSTS:85076

RH10983 (e-PCR)
- UniSTS:50542

RH11658 (e-PCR)
- UniSTS:62581

SHGC-58522 (e-PCR)
- UniSTS:94378

D17S1402E (e-PCR)
- UniSTS:150450

SHGC-144868 (e-PCR)
- UniSTS:172468

G65508 (e-PCR)
- UniSTS:166586

RH92242 (e-PCR)
- UniSTS:85489

G43509 (e-PCR)
- UniSTS:94966

SHGC-148757 (e-PCR)
- UniSTS:173048

SHGC-147546 (e-PCR)
- UniSTS:175869

SHGC-147547 (e-PCR)
- UniSTS:175870

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adherens junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in adherens junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell morphogenesis involved in neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell-substrate adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in post-chaperonin tubulin folding pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in tubulin complex assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in lateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: tubulin-specific chaperone D

Names: beta-tubulin cofactor D

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011721.2 RefSeqGene

Range

5002..198851

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001411101.1 → NP_001398030.1 tubulin-specific chaperone D isoform 2

Status: REVIEWED

Source sequence(s)

AC024361, AC068014, AC087222, AC130371

Consensus CDS

CCDS92423.1

UniProtKB/TrEMBL

A0A804HHW7, A0A804HLI2

Related

ENSP00000508364.1, ENST00000682722.1
NM_001411102.1 → NP_001398031.1 tubulin-specific chaperone D isoform 3

Status: REVIEWED

Source sequence(s)

AC024361, AC068014, AC087222, AC130371

Consensus CDS

CCDS92421.1

UniProtKB/TrEMBL

A0A804HHW7, A0A804HJ32

Related

ENSP00000507337.1, ENST00000684544.1
NM_005993.5 → NP_005984.3 tubulin-specific chaperone D isoform 1

See identical proteins and their annotated locations for NP_005984.3

Status: REVIEWED

Source sequence(s)

AC130371, BC003094, BC012824, BI464569

Consensus CDS

CCDS45818.1

UniProtKB/Swiss-Prot

O95458, Q7L8K1, Q8IXP6, Q8NAX0, Q8WYH4, Q96E74, Q9BTW9, Q9UF82, Q9UG46, Q9Y2J3

UniProtKB/TrEMBL

A0A804HHW7

Related

ENSP00000347719.4, ENST00000355528.9

Conserved Domains (2) summary

pfam12612
Location:897 → 1087

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:63 → 914

TFCD_C; Tubulin folding cofactor D C terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

82752065..82945914

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523590.2 → XP_011521892.1 tubulin-specific chaperone D isoform X5

UniProtKB/TrEMBL

A0A804HI02, A0A804HI57

Related

ENSP00000506837.1, ENST00000684408.1

Conserved Domains (2) summary

pfam12612
Location:778 → 968

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:63 → 795

TFCD_C; Tubulin folding cofactor D C terminal
XM_047436615.1 → XP_047292571.1 tubulin-specific chaperone D isoform X1

UniProtKB/TrEMBL

A0A804HHW7
XM_047436619.1 → XP_047292575.1 tubulin-specific chaperone D isoform X7

UniProtKB/TrEMBL

A0A804HI57
XM_047436617.1 → XP_047292573.1 tubulin-specific chaperone D isoform X3

UniProtKB/TrEMBL

A0A804HHW7

Related

ENSP00000440671.2, ENST00000539345.6
XM_047436623.1 → XP_047292579.1 tubulin-specific chaperone D isoform X16

UniProtKB/TrEMBL

I6L959

Related

ENSP00000506994.1, ENST00000683041.1
XM_017024988.2 → XP_016880477.1 tubulin-specific chaperone D isoform X19

UniProtKB/TrEMBL

A0A804HIC0
XM_047436626.1 → XP_047292582.1 tubulin-specific chaperone D isoform X23

UniProtKB/TrEMBL

A0A804HIC0
XM_017024987.2 → XP_016880476.1 tubulin-specific chaperone D isoform X2

UniProtKB/TrEMBL

A0A804HIN6, A0A804HIU1

Related

ENSP00000507153.1, ENST00000684188.1
XM_047436616.1 → XP_047292572.1 tubulin-specific chaperone D isoform X2

UniProtKB/TrEMBL

A0A804HIN6, A0A804HIU1
XM_047436618.1 → XP_047292574.1 tubulin-specific chaperone D isoform X6

UniProtKB/TrEMBL

A0A804HIU1
XM_011523589.3 → XP_011521891.1 tubulin-specific chaperone D isoform X4

UniProtKB/TrEMBL

A0A804HIU1

Conserved Domains (2) summary

pfam12612
Location:782 → 972

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:244 → 799

TFCD_C; Tubulin folding cofactor D C terminal
XM_011523591.3 → XP_011521893.2 tubulin-specific chaperone D isoform X9

UniProtKB/TrEMBL

A0A804HIU1
XM_011523593.3 → XP_011521895.1 tubulin-specific chaperone D isoform X8

UniProtKB/TrEMBL

A0A804HIU1

Related

ENST00000682610.1

Conserved Domains (2) summary

pfam12612
Location:646 → 836

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:108 → 663

TFCD_C; Tubulin folding cofactor D C terminal
XM_047436624.1 → XP_047292580.1 tubulin-specific chaperone D isoform X17
XM_017024990.3 → XP_016880479.1 tubulin-specific chaperone D isoform X26

UniProtKB/TrEMBL

A0A804HJU6

Related

ENSP00000507651.1, ENST00000683821.1

Conserved Domains (2) summary

pfam12612
Location:338 → 525

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:290 → 352

TFCD_C; Tubulin folding cofactor D C terminal
XM_006722291.5 → XP_006722354.1 tubulin-specific chaperone D isoform X13

Conserved Domains (2) summary

pfam12612
Location:465 → 655

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:4 → 482

TFCD_C; Tubulin folding cofactor D C terminal
XM_024450902.2 → XP_024306670.1 tubulin-specific chaperone D isoform X26

UniProtKB/TrEMBL

A0A804HJU6

Conserved Domains (2) summary

pfam12612
Location:338 → 525

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:290 → 352

TFCD_C; Tubulin folding cofactor D C terminal
XM_005256399.6 → XP_005256456.1 tubulin-specific chaperone D isoform X12

Conserved Domains (2) summary

pfam12612
Location:469 → 659

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:12 → 486

TFCD_C; Tubulin folding cofactor D C terminal
XM_047436622.1 → XP_047292578.1 tubulin-specific chaperone D isoform X15
XM_047436628.1 → XP_047292584.1 tubulin-specific chaperone D isoform X25
XM_024450899.2 → XP_024306667.1 tubulin-specific chaperone D isoform X26

UniProtKB/TrEMBL

A0A804HJU6

Conserved Domains (2) summary

pfam12612
Location:338 → 525

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:290 → 352

TFCD_C; Tubulin folding cofactor D C terminal
XM_024450900.2 → XP_024306668.1 tubulin-specific chaperone D isoform X26

UniProtKB/TrEMBL

A0A804HJU6

Conserved Domains (2) summary

pfam12612
Location:338 → 525

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:290 → 352

TFCD_C; Tubulin folding cofactor D C terminal
XM_005256404.5 → XP_005256461.1 tubulin-specific chaperone D isoform X26

See identical proteins and their annotated locations for XP_005256461.1

UniProtKB/TrEMBL

A0A804HJU6

Conserved Domains (2) summary

pfam12612
Location:338 → 525

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:290 → 352

TFCD_C; Tubulin folding cofactor D C terminal
XM_047436629.1 → XP_047292585.1 tubulin-specific chaperone D isoform X26

UniProtKB/TrEMBL

A0A804HJU6

Related

ENST00000684559.1
XM_047436621.1 → XP_047292577.1 tubulin-specific chaperone D isoform X11
XM_047436625.1 → XP_047292581.1 tubulin-specific chaperone D isoform X18
XM_011523595.4 → XP_011521897.1 tubulin-specific chaperone D isoform X14

Conserved Domains (2) summary

pfam12612
Location:462 → 652

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:49 → 479

TFCD_C; Tubulin folding cofactor D C terminal
XM_011523594.3 → XP_011521896.2 tubulin-specific chaperone D isoform X10
XM_011523600.4 → XP_011521902.1 tubulin-specific chaperone D isoform X26

See identical proteins and their annotated locations for XP_011521902.1

UniProtKB/TrEMBL

A0A804HJU6

Related

ENSP00000507232.1, ENST00000682315.1

Conserved Domains (2) summary

pfam12612
Location:338 → 525

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:290 → 352

TFCD_C; Tubulin folding cofactor D C terminal
XM_011523597.3 → XP_011521899.1 tubulin-specific chaperone D isoform X20

Related

ENST00000683839.1

Conserved Domains (2) summary

pfam12612
Location:384 → 574

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:339 → 401

TFCD_C; Tubulin folding cofactor D C terminal
XM_011523599.3 → XP_011521901.1 tubulin-specific chaperone D isoform X22

Conserved Domains (2) summary

pfam12612
Location:381 → 571

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:336 → 398

TFCD_C; Tubulin folding cofactor D C terminal
XM_011523598.2 → XP_011521900.1 tubulin-specific chaperone D isoform X21

Conserved Domains (2) summary

pfam12612
Location:383 → 573

TFCD_C; Tubulin folding cofactor D C terminal

cl19887
Location:338 → 400

TFCD_C; Tubulin folding cofactor D C terminal
XM_017024989.2 → XP_016880478.1 tubulin-specific chaperone D isoform X24

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187612.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

155511..177989 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

83626412..83817896

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047446781.1 → XP_047302737.1 tubulin-specific chaperone D isoform X27

UniProtKB/TrEMBL

A0A804HHW7
XM_054318126.1 → XP_054174101.1 tubulin-specific chaperone D isoform X27

UniProtKB/TrEMBL

A0A804HHW7
XM_054318127.1 → XP_054174102.1 tubulin-specific chaperone D isoform X27

UniProtKB/TrEMBL

A0A804HHW7
XM_047446787.1 → XP_047302743.1 tubulin-specific chaperone D isoform X5

UniProtKB/TrEMBL

A0A804HI57
XM_047446798.1 → XP_047302754.1 tubulin-specific chaperone D isoform X16

UniProtKB/TrEMBL

I6L959
XM_047446801.1 → XP_047302757.1 tubulin-specific chaperone D isoform X19

UniProtKB/TrEMBL

A0A804HIC0
XM_047446805.1 → XP_047302761.1 tubulin-specific chaperone D isoform X23

UniProtKB/TrEMBL

A0A804HIC0
XM_047446784.1 → XP_047302740.1 tubulin-specific chaperone D isoform X1

UniProtKB/TrEMBL

A0A804HHW7
XM_047446789.1 → XP_047302745.1 tubulin-specific chaperone D isoform X7

UniProtKB/TrEMBL

A0A804HI57
XM_047446785.1 → XP_047302741.1 tubulin-specific chaperone D isoform X2

UniProtKB/TrEMBL

A0A804HIU1
XM_047446788.1 → XP_047302744.1 tubulin-specific chaperone D isoform X6

UniProtKB/TrEMBL

A0A804HIU1
XM_047446786.1 → XP_047302742.1 tubulin-specific chaperone D isoform X4

UniProtKB/TrEMBL

A0A804HIU1
XM_047446791.1 → XP_047302747.1 tubulin-specific chaperone D isoform X9

UniProtKB/TrEMBL

A0A804HIU1
XM_047446790.1 → XP_047302746.1 tubulin-specific chaperone D isoform X8

UniProtKB/TrEMBL

A0A804HIU1
XM_047446799.1 → XP_047302755.1 tubulin-specific chaperone D isoform X17
XM_047446810.1 → XP_047302766.1 tubulin-specific chaperone D isoform X26
XM_047446795.1 → XP_047302751.1 tubulin-specific chaperone D isoform X13
XM_047446807.1 → XP_047302763.1 tubulin-specific chaperone D isoform X25
XM_047446797.1 → XP_047302753.1 tubulin-specific chaperone D isoform X15
XM_047446794.1 → XP_047302750.1 tubulin-specific chaperone D isoform X12
XM_047446808.1 → XP_047302764.1 tubulin-specific chaperone D isoform X26
XM_047446809.1 → XP_047302765.1 tubulin-specific chaperone D isoform X26
XM_047446811.1 → XP_047302767.1 tubulin-specific chaperone D isoform X26
XM_047446792.1 → XP_047302748.1 tubulin-specific chaperone D isoform X10
XM_047446796.1 → XP_047302752.1 tubulin-specific chaperone D isoform X14
XM_047446800.1 → XP_047302756.1 tubulin-specific chaperone D isoform X18
XM_047446793.1 → XP_047302749.1 tubulin-specific chaperone D isoform X11
XM_047446802.1 → XP_047302758.1 tubulin-specific chaperone D isoform X20
XM_047446804.1 → XP_047302760.1 tubulin-specific chaperone D isoform X22
XM_047446803.1 → XP_047302759.1 tubulin-specific chaperone D isoform X21
XM_047446806.1 → XP_047302762.1 tubulin-specific chaperone D isoform X24

RNA

XR_007087795.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001033052.1: Suppressed sequence

Description

NM_001033052.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.