LOCUS       NP_065194               1819 aa            linear   PRI 28-APR-2025
DEFINITION  gamma-tubulin complex component 6 [Homo sapiens].
ACCESSION   NP_065194
VERSION     NP_065194.3
DBSOURCE    REFSEQ: accession NM_020461.4
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  (residues 1 to 1819)
  AUTHORS   Thomas-Wilson,A., Schacht,J.P., Chitayat,D., Blaser,S.,
            Santos,F.J.R., Glaser,K., Caffo,A., Wentzensen,I.M.,
            Henderson,L.B., Zhang,F., Zhu,Y., Di Corleto,E., da Silva Costa,F.,
            Vink,R., Alkhunaizi,E., Russell,L., Buckley,M.F., Roscioli,T.,
            Pereira,E.M. and Ganapathi,M.
  TITLE     Biallelic variants in TUBGCP6 result in microcephaly and
            chorioretinopathy 1: Report of four cases and a literature review
  JOURNAL   Am J Med Genet A 191 (7), 1935-1941 (2023)
   PUBMED   37031378
  REMARK    GeneRIF: Biallelic variants in TUBGCP6 result in microcephaly and
            chorioretinopathy 1: Report of four cases and a literature review.
            Review article
REFERENCE   2  (residues 1 to 1819)
  AUTHORS   Kato,K., Udagawa,R., Hayashi,Y., Maki,M., Yanagida,M.,
            Higashiura,S., Yagishita,R., Shimamoto,H. and Kimura,K.
  TITLE     SF3B14 is involved in the centrosome regulation through splicing of
            TUBGCP6 pre-mRNA
  JOURNAL   Biochem Biophys Res Commun 588, 133-139 (2022)
   PUBMED   34954520
  REMARK    GeneRIF: SF3B14 is involved in the centrosome regulation through
            splicing of TUBGCP6 pre-mRNA.
REFERENCE   3  (residues 1 to 1819)
  AUTHORS   Shurygina,M.F., Simonett,J.M., Parker,M.A., Mitchell,A.,
            Grigorian,F., Lifton,J., Nagiel,A., Shpak,A.A., Dadali,E.L.,
            Mishina,I.A., Weleber,R.G., Yang,P. and Pennesi,M.E.
  TITLE     Genotype Phenotype Correlation and Variability in Microcephaly
            Associated With Chorioretinopathy or Familial Exudative
            Vitreoretinopathy
  JOURNAL   Invest Ophthalmol Vis Sci 61 (13), 2 (2020)
   PUBMED   33137195
  REMARK    GeneRIF: Genotype Phenotype Correlation and Variability in
            Microcephaly Associated With Chorioretinopathy or Familial
            Exudative Vitreoretinopathy.
REFERENCE   4  (residues 1 to 1819)
  AUTHORS   Hull,S., Arno,G., Ostergaard,P., Pontikos,N., Robson,A.G.,
            Webster,A.R., Hogg,C.R., Wright,G.A., Henderson,R.H.H.,
            Martin,C.A., Jackson,A.P., Mansour,S., Moore,A.T. and
            Michaelides,M.
  TITLE     Clinical and Molecular Characterization of Familial Exudative
            Vitreoretinopathy Associated With Microcephaly
  JOURNAL   Am J Ophthalmol 207, 87-98 (2019)
   PUBMED   31077665
  REMARK    GeneRIF: a family of 2 children with learning difficulties,
            abnormal peripheral retinal vasculogenesis, and rod-cone dystrophy
            were investigated. They were found to have bi-allelic splicing
            variants in TUBGCP6.
REFERENCE   5  (residues 1 to 1819)
  AUTHORS   Navarini,A.A., Simpson,M.A., Weale,M., Knight,J., Carlavan,I.,
            Reiniche,P., Burden,D.A., Layton,A., Bataille,V., Allen,M.,
            Pleass,R., Pink,A., Creamer,D., English,J., Munn,S., Walton,S.,
            Willis,C., Deret,S., Voegel,J.J., Spector,T., Smith,C.H.,
            Trembath,R.C. and Barker,J.N.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1819)
  AUTHORS   Takahashi,M., Yamagiwa,A., Nishimura,T., Mukai,H. and Ono,Y.
  TITLE     Centrosomal proteins CG-NAP and kendrin provide microtubule
            nucleation sites by anchoring gamma-tubulin ring complex
  JOURNAL   Mol Biol Cell 13 (9), 3235-3245 (2002)
   PUBMED   12221128
REFERENCE   7  (residues 1 to 1819)
  AUTHORS   Haren,L. and Merdes,A.
  TITLE     Direct binding of NuMA to tubulin is mediated by a novel sequence
            motif in the tail domain that bundles and stabilizes microtubules
  JOURNAL   J Cell Sci 115 (Pt 9), 1815-1824 (2002)
   PUBMED   11956313
REFERENCE   8  (residues 1 to 1819)
  AUTHORS   Murphy,S.M., Preble,A.M., Patel,U.K., O'Connell,K.L., Dias,D.P.,
            Moritz,M., Agard,D., Stults,J.T. and Stearns,T.
  TITLE     GCP5 and GCP6: two new members of the human gamma-tubulin complex
  JOURNAL   Mol Biol Cell 12 (11), 3340-3352 (2001)
   PUBMED   11694571
REFERENCE   9  (residues 1 to 1819)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   10 (residues 1 to 1819)
  AUTHORS   Hsu,H.L. and Yeh,N.H.
  TITLE     Dynamic changes of NuMA during the cell cycle and possible
            appearance of a truncated form of NuMA during apoptosis
  JOURNAL   J Cell Sci 109 (Pt 2), 277-288 (1996)
   PUBMED   8838651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022328.21.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NP_065194.2.
            
            Summary: The protein encoded by this gene is part of a large
            multisubunit complex required for microtubule nucleation at the
            centrosome. [provided by RefSeq, Jul 2008].
            
            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 :: AF272887.1, SRR7346977.2859410.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000248846.10/ ENSP00000248846.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1819
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     Protein         1..1819
                     /product="gamma-tubulin complex component 6"
                     /note="tubulin gamma complex associated protein 6"
                     /calculated_mol_wt=200368
     Region          28..342
                     /region_name="GCP6_N"
                     /note="Gamma-tubulin complex component 6 N-terminus;
                     pfam19340"
                     /db_xref="CDD:466048"
     Region          353..633
                     /region_name="GCP_N_terminal"
                     /note="Gamma tubulin complex component N-terminal;
                     pfam17681"
                     /db_xref="CDD:465456"
     Region          <630..834
                     /region_name="DUF5401"
                     /note="Family of unknown function (DUF5401); pfam17380"
                     /db_xref="CDD:375164"
     Region          810..889
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RT7.3)"
     Region          929..951
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RT7.3)"
     Region          1000..1023
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RT7.3)"
     Region          1027..1269
                     /region_name="9 X 27 AA tandem repeats"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RT7.3)"
     Region          1041..1208
                     /region_name="DUF4573"
                     /note="Domain of unknown function (DUF4573); pfam15140"
                     /db_xref="CDD:434493"
     Region          1271..1412
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RT7.3)"
     Region          1513..1816
                     /region_name="GCP_C_terminal"
                     /note="Gamma tubulin complex component C-terminal;
                     pfam04130"
                     /db_xref="CDD:461187"
     CDS             1..1819
                     /gene="TUBGCP6"
                     /gene_synonym="GCP-6; GCP6; MCCRP; MCCRP1; MCPHCR"
                     /coded_by="NM_020461.4:565..6024"
                     /db_xref="CCDS:CCDS14087.1"
                     /db_xref="GeneID:85378"
                     /db_xref="HGNC:HGNC:18127"
                     /db_xref="MIM:610053"
ORIGIN      
        1 masitqlfdd lceallpaak thlgqrsvnr krakrslkkv aynalftnlf qdetqqlqpd
       61 msklparnki lmlsfdlrvg glgpkadrle elveeleaap ccpllevgsv ldllvqlags
      121 gppqvlprkr dyflnnkhvg rnvpysgydc ddlsvfemdv qslisreecl chsmiqetlq
      181 vmeaapgtgl ptvglfsfgd pcgdrferdt rvslfgalvh srtydmdvrl glppvpdnad
      241 lsglaikvpp svdqwedegf qsasnltpds qsepsvtpdv dlweaaltye askrrcwerv
      301 gcppghreep ylteagrdaf dkfcrlhqge lqllaggvlq apqpvlvkec elvkdvlnvl
      361 igvvsatfsl cqpaqafvvk rgvhvsgasp esissllsev aeygtcytrl shfslqpvld
      421 slyskglvfq aftsglrryl qyyracvlst pptlslltig flfkklgrql rylaelcgvg
      481 avlpgtcggg praafptgvk llsylyqeal hncsnehypv llsllktsce pytrfihdwv
      541 ysgvfrdayg efmiqvnhey lsfrdklywt hgyvliskev edcvpvflkh iahdiyvcgk
      601 tinllklccp rhylcwsdvp vprisvifsl eelkeiekdc avyvgrmerv arhssvskee
      661 kelrmeiakq eliahareaa srvlsalsdr qmsermalda rkreqfqrlk eqfvkdqerr
      721 qaarqeeldd dfsyarelrd rerrlkslee elerkarqal vdhysklsae aarreqkalw
      781 riqrhrlesa rlrflledek hiqemlkavs eahqpqeppd vllsvhpqvt spgpehpegg
      841 qgcdsgsaeq hspawdgwnr pglltpqplk plavgaggrg lqqaegarpf sdslsigdfl
      901 pvgpgaepsv qtgmvpllev alqtinldlp psapgeapaa astqpsrpqe ydfstvlrpa
      961 vatspapgpl qaaecslgss glqlwedscg kmdacgsasr etllpshppr raaleegssq
     1021 pterlfgqvs ggglptgdya seiaptrprw nthghvsdas irvgenvsdv aptqprwnth
     1081 ghvsnasisl gesvsdvapt rprwnihghv snasirvgen vsdvaptrpr wnthghvsna
     1141 sirvgenvsd vaptrprwnt hghvsdasis lgesvsdmap arprwnthgh vsdasislge
     1201 svsdmaptrp rwnthghvsd tsirvgenvs dvapirsrcn thghvsdasi slgepvsdvv
     1261 strprwnthv pippphmvlg alspeaepnt prpqqsppgh tsqsalslga qstvldcgpr
     1321 lpvevgpsls spssgcgegs isvgenvsdv aptqpwwpnt pgdsvseelg pgrsgdtedl
     1381 spnwplnsqe dtaaqsspgr geeaeasaae aqggeqayla glagqyhler ypdsyesmse
     1441 ppiahllrpv lprafafpvd pqvqsaadet avqlselltl pvlmkrsita plaahislvn
     1501 kaavdyffve lhleahyeal rhfllmedge faqslsdllf eklgagqtpg ellnplvlns
     1561 vlskalqcsl hgdtphasnl slalkylpev fapnapdvls clelrykvdw plnivitegc
     1621 vskysgvfsf llqlklmmwa lkdvcfhlkr tallshmags vqfrqlqlfk hemqhfvkvi
     1681 qgyianqilh vtwcefrarl atvgdleeiq rahaeylhka vfrgllteka apvmnvihsi
     1741 fslvlkfrsq lisqawgppg gprgaehpnf almqqsyntf kyyshflfkv vtklvnrgyq
     1801 phledfllri nfnnyyqda
//
