• Gene id: 6904

Gene Summary

• Gene Symbol: TBCD   Gene   UCSC   Ensembl
• Aliases: PEBAT, SSD-1, tfcD
• Gene name: tubulin folding cofactor D
• Alternate names: tubulin-specific chaperone D, beta-tubulin cofactor D,
• Gene location: 17q25.3 (82752047: 82945913)     Exons: 61     NC_000017.11
• Gene summary(Entrez): 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 intermediate
• OMIM: 601577

Protein Summary

• Protein general information: Q9BTW9  
  • Name: Tubulin specific chaperone D (Beta tubulin cofactor D) (tfcD) (SSD 1) (Tubulin folding cofactor D)
  • Length: 1192  
  • Mass: 132600
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLD
  PHLEWMMNLLLDIVQDQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETR
  YMLLLWLSVTCLIPFDFSRLDGNLLTQPGQARMSIMDRILQIAESYLIVSDKARDAAAVLVSRFITRPDVKQSKM
  AEFLDWSLCNLARSSFQTMQGVITMDGTLQALAQIFKHGKREDCLPYAATVLRCLDGCRLPESNQTLLRKLGVKL
  VQRLGLTFLKPKVAAWRYQRGCRSLAANLQLLTQGQSEQKPLILTEDDDEDDDVPEGVERVIEQLLVGLKDKDTV
  VRWSAAKGIGRMAGRLPRALADDVVGSVLDCFSFQETDKAWHGGCLALAELGRRGLLLPSRLVDVVAVILKALTY
  DEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQGTFP
  HGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARALHNLAQQAPEFSAT
  QVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQL
  MRQAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADP
  AIQEELITQYLAELRNPEEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARI
  CQTVGVKAGAPDEAVCGENVSQIYCALLGCMDDYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCE
  RIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEKLFPRSDVASVNWSAPSQAFPRITQLLGL
  PTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNERVSVPLLKTLDHV
  LTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIR
  KTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLGVPRPQLVPQPGAC

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR033162  IPR022577  
  • STRING: ENSP00000347719
• Other Databases: GeneCards:  TBCD  Malacards:  TBCD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034333	adherens junction assembly	IBA	biological process
GO:0016328	lateral plasma membrane	IBA	cellular component
GO:0006457	protein folding	IBA	biological process
GO:0070830	bicellular tight junction assembly	IBA	biological process
GO:0048487	beta-tubulin binding	IBA	molecular function
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0031115	negative regulation of microtubule polymerization	IDA	biological process
GO:0031115	negative regulation of microtubule polymerization	IDA	biological process
GO:0006457	protein folding	IDA	biological process
GO:0007021	tubulin complex assembly	IDA	biological process
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0007023	post-chaperonin tubulin folding pathway	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0034333	adherens junction assembly	ISS	biological process
GO:0016328	lateral plasma membrane	ISS	cellular component
GO:0005923	bicellular tight junction	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048667	cell morphogenesis involved in neuron differentiation	IMP	biological process
GO:0070830	bicellular tight junction assembly	ISS	biological process
GO:0010812	negative regulation of cell-substrate adhesion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0007021	tubulin complex assembly	IEA	biological process
GO:0007023	post-chaperonin tubulin folding pathway	IEA	biological process
GO:0048487	beta-tubulin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051087	chaperone binding	TAS	molecular function
GO:0005874	microtubule	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0006457	protein folding	TAS	biological process

Diseases

Associated diseases	References
PEBAT	KEGG:H02261
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray