LOCUS       NM_003193               5374 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tubulin folding cofactor E (TBCE), transcript variant
            2, mRNA.
ACCESSION   NM_003193
VERSION     NM_003193.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5374)
  AUTHORS   David,O., Kristal,E., Ling,G., Broides,A., Hadad,N., Shubinsky,G.
            and Nahum,A.
  TITLE     Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a
            Variant in the Tubulin-Specific Chaperone E Gene as a Cause of
            Combined Immune Deficiency
  JOURNAL   J Clin Immunol 43 (2), 350-357 (2023)
   PUBMED   36258138
  REMARK    GeneRIF: Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to
            a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of
            Combined Immune Deficiency.
REFERENCE   2  (bases 1 to 5374)
  AUTHORS   Sbardella,D., Tundo,G.R., Cunsolo,V., Grasso,G., Cascella,R.,
            Caputo,V., Santoro,A.M., Milardi,D., Pecorelli,A., Ciaccio,C., Di
            Pierro,D., Leoncini,S., Campagnolo,L., Pironi,V., Oddone,F.,
            Manni,P., Foti,S., Giardina,E., De Felice,C., Hayek,J.,
            Curatolo,P., Galasso,C., Valacchi,G., Coletta,M., Graziani,G. and
            Marini,S.
  TITLE     Defective proteasome biogenesis into skin fibroblasts isolated from
            Rett syndrome subjects with MeCP2 non-sense mutations
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1866 (7), 165793 (2020)
   PUBMED   32275946
  REMARK    GeneRIF: Defective proteasome biogenesis into skin fibroblasts
            isolated from Rett syndrome subjects with MeCP2 non-sense
            mutations.
REFERENCE   3  (bases 1 to 5374)
  AUTHORS   Touati,A., Nouri,S., Halleb,Y., Kmiha,S., Mathlouthi,J., Tej,A.,
            Mahdhaoui,N., Ben Ahmed,A., Saad,A., Bensignor,C. and H'mida Ben
            Brahim,D.
  TITLE     Additional Tunisian patients with Sanjad-Sakati syndrome: A review
            toward a consensus on diagnostic criteria
  JOURNAL   Arch Pediatr 26 (2), 102-107 (2019)
   PUBMED   30638765
  REMARK    GeneRIF: Mutation analysis of the TBCE gene revealed the common
            12-bp (155-166del) deletion in three new Sanjad-Sakati syndrome
            patients from Tunisia.
            Review article
REFERENCE   4  (bases 1 to 5374)
  AUTHORS   Jimenez-Moreno,V. and Agirregoitia,E.
  TITLE     Expression and localization of tubulin cofactors TBCD and TBCE in
            human gametes
  JOURNAL   Zygote 25 (3), 304-312 (2017)
   PUBMED   28583220
  REMARK    GeneRIF: TBCE protein was localized in the middle region and in the
            tail of the sperm while in the oocyte the localization was
            cytosolic.
REFERENCE   5  (bases 1 to 5374)
  AUTHORS   Miyake,N., Fukai,R., Ohba,C., Chihara,T., Miura,M., Shimizu,H.,
            Kakita,A., Imagawa,E., Shiina,M., Ogata,K., Okuno-Yuguchi,J.,
            Fueki,N., Ogiso,Y., Suzumura,H., Watabe,Y., Imataka,G., Leong,H.Y.,
            Fattal-Valevski,A., Kramer,U., Miyatake,S., Kato,M., Okamoto,N.,
            Sato,Y., Mitsuhashi,S., Nishino,I., Kaneko,N., Nishiyama,A.,
            Tamura,T., Mizuguchi,T., Nakashima,M., Tanaka,F., Saitsu,H. and
            Matsumoto,N.
  TITLE     Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative
            Encephalopathy
  JOURNAL   Am J Hum Genet 99 (4), 950-961 (2016)
   PUBMED   27666374
REFERENCE   6  (bases 1 to 5374)
  AUTHORS   Diaz,G.A., Khan,K.T. and Gelb,B.D.
  TITLE     The autosomal recessive Kenny-Caffey syndrome locus maps to
            chromosome 1q42-q43
  JOURNAL   Genomics 54 (1), 13-18 (1998)
   PUBMED   9806825
REFERENCE   7  (bases 1 to 5374)
  AUTHORS   Parvari,R., Hershkovitz,E., Kanis,A., Gorodischer,R., Shalitin,S.,
            Sheffield,V.C. and Carmi,R.
  TITLE     Homozygosity and linkage-disequilibrium mapping of the syndrome of
            congenital hypoparathyroidism, growth and mental retardation, and
            dysmorphism to a 1-cM interval on chromosome 1q42-43
  JOURNAL   Am J Hum Genet 63 (1), 163-169 (1998)
   PUBMED   9634513
REFERENCE   8  (bases 1 to 5374)
  AUTHORS   Tian,G., Lewis,S.A., Feierbach,B., Stearns,T., Rommelaere,H.,
            Ampe,C. and Cowan,N.J.
  TITLE     Tubulin subunits exist in an activated conformational state
            generated and maintained by protein cofactors
  JOURNAL   J Cell Biol 138 (4), 821-832 (1997)
   PUBMED   9265649
REFERENCE   9  (bases 1 to 5374)
  AUTHORS   Tian,G., Huang,Y., Rommelaere,H., Vandekerckhove,J., Ampe,C. and
            Cowan,N.J.
  TITLE     Pathway leading to correctly folded beta-tubulin
  JOURNAL   Cell 86 (2), 287-296 (1996)
   PUBMED   8706133
REFERENCE   10 (bases 1 to 5374)
  AUTHORS   Lewis,S.A., Tian,G., Vainberg,I.E. and Cowan,N.J.
  TITLE     Chaperonin-mediated folding of actin and tubulin
  JOURNAL   J Cell Biol 132 (1-2), 1-4 (1996)
   PUBMED   8567715
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB110473.1, U61232.2,
            BF064027.1 and FO393422.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003193.4.
            
            Summary: Cofactor E 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. Two transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U61232.2, BC008654.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642610.2/ ENSP00000494796.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                CB110473.1         68-97
            31-1834             U61232.2           2-1805
            1835-1899           BF064027.1         12-76               c
            1900-5374           FO393422.1         41363-44837
FEATURES             Location/Qualifiers
     source          1..5374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.3"
     gene            1..5374
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /note="tubulin folding cofactor E"
                     /db_xref="GeneID:6905"
                     /db_xref="HGNC:HGNC:11582"
                     /db_xref="MIM:604934"
     exon            1..78
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            79..209
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..1693
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /note="isoform a is encoded by transcript variant 2"
                     /codon_start=1
                     /product="tubulin-specific chaperone E isoform a"
                     /protein_id="NP_003184.1"
                     /db_xref="CCDS:CCDS1605.1"
                     /db_xref="GeneID:6905"
                     /db_xref="HGNC:HGNC:11582"
                     /db_xref="MIM:604934"
                     /translation="MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNP
                     ERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQ
                     IVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDL
                     SKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITW
                     AEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHL
                     PRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSL
                     RALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNE
                     WKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKI
                     KYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELEND
                     LKSLQFYSVENGDCLLVRW"
     exon            210..294
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            295..480
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            481..569
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            570..669
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            670..769
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            770..846
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            847..942
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1007
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1072
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1225
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            1226..1379
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1448
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1508
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            1509..1600
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..5374
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1877..1882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /note="hexamer: AATAAA"
     polyA_site      1895
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /note="major polyA site"
     regulatory      5351..5356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
                     /note="hexamer: ATTAAA"
     polyA_site      5374
                     /gene="TBCE"
                     /gene_synonym="HRD; KCS; KCS1; pac2; PEAMO"
ORIGIN      
        1 gccagagcct caagcttcgc tgctgggcag ttggctggag gggctgctgc tgggaacacc
       61 tggagtctcc gcgggcagat ctcatatttt ggattctgga tatattataa tgagtgacac
      121 tttgacagcg gatgtcattg gtcgaagagt tgaagttaat ggagaacatg caacagtacg
      181 ttttgctggt gttgtccctc ccgtggcagg accctggtta ggagtagaat gggacaatcc
      241 cgagagagga aagcatgatg ggagccacga agggactgtg tattttaaat gcaggcaccc
      301 gacaggagga tcctttattc gtccgaacaa ggtaaatttt ggaacagact ttcttactgc
      361 aattaagaac cgctatgtgt tagaagatgg accagaggaa gatagaaaag agcaaattgt
      421 tacaattgga aataaacctg tggagactat cggttttgac tctattatga aacagcaaag
      481 tcagctgagc aagttgcaag aagtttctct gaggaactgt gcagtaagtt gtgctggtga
      541 aaaaggagga gttgctgaag catgtcctaa tatcagaaag gtagatttgt caaaaaacct
      601 gttgtcatca tgggatgaag tgatacacat tgctgatcag ctcagacacc tggaagtcct
      661 taatgtcagt gaaaataaac taaaatttcc ctccggttca gtattaactg gaacgctttc
      721 tgtactgaag gttttagtcc tcaatcaaac aggaataacg tgggctgagg tgctgcggtg
      781 tgtcgcgggg tgcccaggcc tggaggaact ctaccttgag tctaacaaca ttttcatttc
      841 cgaaaggcca acagatgttc tccagacagt caagttatta gatctttcct ctaatcaatt
      901 aattgatgaa aatcagctgt atctgatagc ccacctgccc aggttagaac aattaatcct
      961 ctctgacact ggaatttctt ctctacattt tccggatgct ggaattgggt gcaaaacgtc
     1021 catgttccca tccttgaagt acctggtagt aaacgacaat cagatatcac aatggtcgtt
     1081 tttcaatgag ctagagaagt taccaagtct acgggctttg tcctgcctaa gaaaccccct
     1141 gaccaaagag gacaaagaag cagagacggc gcgactactc attatcgcca gcattggcca
     1201 gctgaagacg ctgaacaaat gtgagattct ccccgaggag aggcggagag ctgagcttga
     1261 ctaccgaaaa gcttttggaa atgagtggaa acaggctggt ggacataagg atccggaaaa
     1321 aaacagactc agcgaagaat tcctcacagc ccatcccaga taccagttcc tctgcctgaa
     1381 atatggtgca cctgaagatt gggaactcaa aacacagcaa ccacttatgc tgaaaaacca
     1441 gctactaaca ctgaagataa aataccctca tcaacttgat cagaaagtcc tggagaaaca
     1501 actgccgggc tccatgacaa ttcaaaaggt gaagggattg ctgtcacgtc ttctcaaagt
     1561 tcctgtgtca gaccttctgt tgtcctatga aagtcccaaa aagccgggca gagaaatcga
     1621 gctggaaaat gacctaaagt cattacagtt ttattctgtg gaaaatggag attgtctatt
     1681 agtgcgatgg tgacaaccaa ctaataaaat ttaaagacca cactgcttat cgtgtctggg
     1741 gttcaccgga aataaatgat tcactggaac aattctactg tcaaaacaaa gggggtttac
     1801 aacttgtcct aagtataaca agggatgtat tttttgttgg gaagtgacca tttctaggct
     1861 tatacataat agcaataata aaggctttga acctactaat gattttctga tcttatttca
     1921 tatttatttt tacagctcat cactgcattt catgataaga tttaaatatt aaatagaaag
     1981 aaactagcta gcctaataaa atctgaacac agttaatatc tgtcataaga ctagttttaa
     2041 tggaattctc tattgaaact actattttaa agggttacta gaaatgattt ggttggtcat
     2101 tttgggaaat gtcccttaaa cttggggaga catcctctac tatgtataac aatatgctat
     2161 tatctgtctt ctcagttgca ctatttctaa gagtacttaa attaatcaca tgcttttccc
     2221 tacaattata cctaagctga gtatatcttc ttctgtgata accagctttg attgaaatgt
     2281 actcatatta ggtaaacatt aggcaatgat aggaggaaag caaaactaat tctttcaaaa
     2341 tgtcaacaaa atttagaaat atccttcccg atggcactaa aaccctgaga ggtatttgct
     2401 tttattcata ctcacacaac tttagcattt aaaaactatg agtactaaac tgtgaccttc
     2461 aggatttatg ttagatggca gaaagaaaat ttgggtatta gtctaccata taaatgaact
     2521 tctttaaaac caaggttcag aactgagaat catattggtt cctcttcaag ttagttcaag
     2581 ttgcccactt cagagatcca caaaatctga cattatttcc agaaacccca aactttggta
     2641 taagtgacca ctgctcaaat atgtgatcac atgatcacac agcattcctg tgagttcctt
     2701 tttgtctgat aattatccta attagctcta cagagctatc ctgcaatcca ggttgaaatt
     2761 caaactctca gttactacta cagatttctg aactaggcca agttttaacc aaaaactata
     2821 ggtaatggtg aattactaat tagccacaat gcatcaggat ttagaaatat tttttctttt
     2881 ataaaataac ttggtatttt tctgataatc ttccaataga taaataaaaa cttttcttat
     2941 gctacagtac aagttgattt ttaaggaaat ttgtgcaaac attaagaaac accgcattgg
     3001 ttctgggtga aagtgccagt ctggaactct cttgaaagac catacagtct actgctaaac
     3061 cctgggactc ctcagacttg cactcagatt atcgtttgcc tgccctgatt ttagactctg
     3121 ctaattcaag tccctgttat cttgcttgac atcgacaagg atcaccgcac cgttccttca
     3181 gtttccacag ttccgtcagt tcccacggag aatactgagg agaagacagc attcctgtct
     3241 cacaggtctt ctcacacagc cacagactgt cctgttgaga aacaaccaaa gccgatctga
     3301 gagtggtgaa actgttttaa gagcatcaga aagtatgcac gtagacagct tttatgtatt
     3361 ctaatgatgc tgaaattatt tcaaggataa ctccgtgtgt ggaacaactg gtgaggtttg
     3421 ggggtggcac ctcctgattt gggaaagcac caggtcccac agtcctgtgg ctgtggaata
     3481 cagaaacaag gcggtgtgtg gatgaagagt tagtcaacaa atgccattcc gtaatgaacg
     3541 attttagaaa ccacaagtga gtttcatgtt tgctagtaaa ggtgtgtcta tggcagtatt
     3601 agtaacagct attattctga tggaatgctt acaatattgc agggactgta ccaagtgctt
     3661 tgtaaatatc tcacttaaat ctcacagtaa tgctgtgagg taggaactat ttccctctta
     3721 acaattgagg aacaaacgaa gagttaaaaa acttgttcca ggtcacaggg ctggtaaatg
     3781 aagaggaggg attaaagact cccaagctca agttcttaac cactagacta tttcctagct
     3841 acgtgaattg gtttctattt ccagcaatgt agcagaacac agagagaaac tcattcaatg
     3901 ttttgacaac acaaaaatgt tggataaaat taaaaacctt tataaagcat ggctcaactc
     3961 cgtgatcaaa gaagaaacag ggtaggagaa agcactgagt cagcctgtgc cttgaaggca
     4021 gctgctgatc cttgggtttg gaaggccaag cccagggtca ggagactaat gggagactga
     4081 cacagagcta ggatctctga ggggccacag cctcaggggt gataaaacaa aacacactca
     4141 gcttgtctgt ctcagtcttg cccctcagtg ggatggaaag gagtctctct cccctcagtg
     4201 cctacccaca gcttgcactt aggtaggtct ggggctggta gtcagtctgt gtaagcccaa
     4261 cagttccaag ccaaaaatct gaagtattca tagatggtag tattcctaga tgcatggcag
     4321 aaaaaaatgt aaatatgtaa atcctctctg taggaatgca ttttaaatag aggactcagt
     4381 ttccaaagac atgagatggt cacaaaaaaa aaaaaaaaaa aaagaccgca tcagaaaaca
     4441 agcgccatga acaacagttg tagaaacaac aaactgcaaa atcagaccca gcaaagacta
     4501 cagatcccag aattaccaga tacaaaaaag aattatattc aaagatgaga caaagtacag
     4561 caaaggaatc agactatcaa agtggaccat gtagatgtgg gttgatttct tgtcctggac
     4621 tgagagctgc tctgggaccc cagctctatg cagggcttct aactgacaga cactgcatgt
     4681 gccttctgtc ccctgcacct tcgatggcca aagtggaagc tgcaagaatc cagaacagaa
     4741 atctctgaag ctaaagccag ctttgtgctt gatttcttcc cagggctcta gtttccattt
     4801 tggtctctgc agattcattt ttttttctgg ttcagcaata ctgtgtttta aatgatgtct
     4861 tatatttcat gcagtgtctt atttttatcg gtcagaaggg ttgaaggatc cttagactgc
     4921 cacactcaat cagtggattc tgtcgttcag tttttttttt tgagacggag tctcgctctg
     4981 tcgcccaggc tggagtacag tggtgtgatc ttggctcact gcaagctctg ccccccgggt
     5041 tcatgccatt ctcctgcctc agccttctga gtagctggga ccacaggcgc ccgccactat
     5101 gcctggctaa ttttttttgt atttttagta gagatggggt ttcaccgtgt tagccaggat
     5161 ggtctccatc tcctgacctc atgatctgcc cgcctcggcc ttctgttgtt aagttttaaa
     5221 gctgcaaata atttctgatc aaatctatgg aaactgagtt tttttgtagg caggggaacg
     5281 ttgatttata accttttgct ttaaactcag aaaaatactg tatgagaaat aacctagtgg
     5341 attattgtga attaaagcaa cagcataact atta
//
