MGP Database

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MGP004218

Record overview

MGPD IDMGP004218
Gene ID10382
SpeciesHomo sapiens (Human)
Gene Nametubulin, beta 4A class IVa
Gene Symbol TUBB4A
SynonymsDYT4; TUBB4; beta-5;
Alternate namestubulin beta-4A chain; dystonia 4, torsion (autosomal dominant); tubulin beta-4 chain; tubulin, beta 4; tubulin, beta, 5;
Chromosome19
Map Location19p13.3
SummaryThis gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
OrthologsView orthologs and multiple alignments for TUBB4A

Proteins

tubulin beta-4A chain isoform 1
Refseq ID:NP_001276052
Protein GI:574584803
UniProt ID:P04350
mRNA ID:NM_001289123
Length:495
RefSeq Status:
MRRGAADRETERLPGAQGPCSAVSAASSTLAAAAAPRARATAAASTLSATAMREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINV
YYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGT
LLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNAD
LRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNV
KTAVCDIPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA
 
tubulin beta-4A chain isoform 2
Refseq ID:NP_001276056
Protein GI:574584811
UniProt ID:P04350
mRNA ID:NM_001289127
Length:489
RefSeq Status:
MRRGAADRETEGPCSAVSAASSTLAAAAAPRARATAAASTLSATAMREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEAT
GGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKI
REEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAV
NMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCD
IPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA
 
tubulin beta-4A chain isoform 3
Refseq ID:NP_006078
Protein GI:21361322
UniProt ID:P04350
mRNA ID:NM_006087
Length:444
RefSeq Status:
MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNN
WAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETY
CIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMM
AACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA
 
tubulin beta-4A chain isoform 3
Refseq ID:NP_001276058
Protein GI:574584816
UniProt ID:P04350
mRNA ID:NM_001289129
Length:444
RefSeq Status:
Protein sequence is identical to GI:21361322 (mRNA isoform)
 
tubulin beta-4A chain isoform 4
Refseq ID:NP_001276059
Protein GI:574584818
UniProt ID:P04350
mRNA ID:NM_001289130
Length:372
RefSeq Status:
MDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPS
PKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAP
LTSRGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRGLKMAATFIGNST
AIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA
 
tubulin beta-4A chain isoform 4
Refseq ID:NP_001276060
Protein GI:574584820
UniProt ID:P04350
mRNA ID:NM_001289131
Length:372
RefSeq Status:
Protein sequence is identical to GI:574584818 (mRNA isoform)
 
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