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2024-04-20 08:41:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001143973 2297 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens tectonic family member 3 (TCTN3), transcript variant
2, mRNA.
ACCESSION NM_001143973
VERSION NM_001143973.1 GI:221136776
KEYWORDS RefSeq.
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 2297)
AUTHORS Thomas,S., Legendre,M., Saunier,S., Bessieres,B., Alby,C.,
Bonniere,M., Toutain,A., Loeuillet,L., Szymanska,K., Jossic,F.,
Gaillard,D., Yacoubi,M.T., Mougou-Zerelli,S., David,A.,
Barthez,M.A., Ville,Y., Bole-Feysot,C., Nitschke,P., Lyonnet,S.,
Munnich,A., Johnson,C.A., Encha-Razavi,F., Cormier-Daire,V.,
Thauvin-Robinet,C., Vekemans,M. and Attie-Bitach,T.
TITLE TCTN3 mutations cause Mohr-Majewski syndrome
JOURNAL Am. J. Hum. Genet. 91 (2), 372-378 (2012)
PUBMED 22883145
REMARK GeneRIF: TCTN3 mutations cause Mohr-Majewski syndrome.
REFERENCE 2 (bases 1 to 2297)
AUTHORS Reiter,J.F. and Skarnes,W.C.
TITLE Tectonic, a novel regulator of the Hedgehog pathway required for
both activation and inhibition
JOURNAL Genes Dev. 20 (1), 22-27 (2006)
PUBMED 16357211
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI561516.1, AK299141.1,
AI375376.1 and AW517317.1.
Summary: This gene encodes a member of the tectonic gene family
which functions in Hedgehog signal transduction and development of
the neural tube. Mutations in this gene have been associated with
Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively
spliced transcript variants encoding multiple isoforms have been
observed for this gene. [provided by RefSeq, Sep 2012].
Transcript Variant: This variant (2) lacks four alternate exons in
the mid coding region, compared to variant 1, which results in the
loss of two in-frame segments. The resulting isoform (b) is shorter
than isoform a.
Sequence Note: A downstream AUG translation start codon is selected
for this RefSeq based on better conservation support, and on a
higher probability of an N-terminal signal peptide being present in
the resulting protein. The use of an alternative upstream AUG start
codon would result in a protein that is 18 aa longer at the
N-terminus. Translation from the annotated downstream start codon
is likely to occur via leaky scanning.
##Evidence-Data-START##
Transcript exon combination :: AK299141.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
##RefSeq-Attributes-START##
CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
is not conserved
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-217 BI561516.1 6-222
218-1995 AK299141.1 2-1779
1996-2290 AI375376.1 8-302 c
2291-2297 AW517317.1 1-7 c
FEATURES Location/Qualifiers
source 1..2297
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q24.1"
gene 1..2297
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/note="tectonic family member 3"
/db_xref="GeneID:26123"
/db_xref="HGNC:24519"
/db_xref="MIM:613847"
exon 1..500
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
misc_feature 122..124
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/note="upstream in-frame stop codon"
CDS 245..1624
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/note="isoform b precursor is encoded by transcript
variant 2"
/codon_start=1
/product="tectonic-3 isoform b precursor"
/protein_id="NP_001137445.1"
/db_xref="GI:221136777"
/db_xref="CCDS:CCDS44461.1"
/db_xref="GeneID:26123"
/db_xref="HGNC:24519"
/db_xref="MIM:613847"
/translation="
MRTPQLALLQVFFLVFPDGVRPQPSSSPSGAVPTSLELQRGTDGGTLQSPSEATATRPAVPGLPTVVPTLVTPSAPGNRTVDLFPVLPICVCDLTPGACDINCCCDRDCYLLHPRTVFSFCLPGSVRSSSWVCVDNSVIFRSNSPFPSRVFMDSNGIRQFCVHVNNCFLESKSTTCTRFFKNLASSCTLDSALNAASYYNFTVLKVPRSMTDPQNMEAFQQSTAASLTSPRSGNPGYIVGKPLLALTDDISYSMTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQQEIYQTLHGRPRPEYVAIFGNADPAQKGGWTRILNRHCSISAINCTSCCLIPVSLEIQVLWAYVGLLSNPQAHVSGVRFLYQCQSIQDSQQVTEVSLTTLVNFVDITQKPQPPRGQPKMDWKWPFDFFPFKVAFSRGVFSQKCSVSPILILCLLLLGVLNLETM
"
sig_peptide 245..310
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 512..>742
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/note="Protein of unknown function (DUF1619); Region:
DUF1619; pfam07773"
/db_xref="CDD:149051"
variation 437
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:11553577"
exon 501..624
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 625..743
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 744..859
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 860..895
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 896..1003
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1004..1098
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1099..1252
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
variation 1117
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:34474203"
exon 1253..1390
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1391..2295
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
STS 1556..1722
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="RH91800"
/db_xref="UniSTS:91159"
STS 1665..1791
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="WI-18689"
/db_xref="UniSTS:72677"
variation 1740
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:6946"
polyA_signal 1791..1796
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
polyA_site 1814
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
STS 1984..2266
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="HSC14E022"
/db_xref="UniSTS:59866"
STS 2042..2213
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="A001X33"
/db_xref="UniSTS:57053"
STS 2042..2213
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="G19757"
/db_xref="UniSTS:57052"
STS 2057..2162
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="RH190"
/db_xref="UniSTS:70469"
variation 2194
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1064654"
variation 2199
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:701891"
polyA_signal 2259..2264
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
polyA_site 2295
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
ORIGIN
ggttgccaggcaacggaggcacggcccggcccgcgttaaggaggagggcgcagaccgaaggacactgaaagagctgtaacaaccccactttcgattggttgaagagctctcagccttctcatgagccaatgagaagaggcacgcggatggcgtcagacgctatgcgactcctcccacccacgctctggcaatgcgattggagaccgcggaggcctacgtcggacccggaggccctgaatgccccatgcgcaccccacagctcgcgctcctgcaagtgttctttctggtgttccccgatggcgtccggcctcagccctcttcctccccatcaggggcagtgcccacgtctttggagctgcagcgagggacggatggcggaaccctccagtccccttcagaggcgactgcaactcgcccggccgtgcctggactccctacagtggtccctactctcgtgactccctcggcccctgggaataggactgtggacctcttcccagtcttaccgatctgtgtctgtgacttgactcctggagcctgcgatataaattgctgctgcgacagggactgctatcttctccatccgaggacagttttctccttctgccttccaggcagcgtaaggtcttcaagctgggtttgtgtagacaactctgttatcttcaggagtaattccccgtttccttcaagagttttcatggattctaatggaatcaggcagttttgtgtccatgtgaacaactgtttcctagagagtaaaagtacaacttgcactcgttttttcaagaacctggctagtagctgtaccttggattcagccctcaatgctgcctcttactataacttcacagtcttaaaggttccaagaagcatgactgatccacagaatatggaggcttttcaacagagcacagctgcttctctcaccagtcctagaagtgggaatcctggctatatagttgggaagccactcttggctctgactgatgatataagttactcaatgaccctcttacagagccagggtaatggaagttgctctgttaaaagacatgaagtgcagtttggagtgaatgcaatatctggatgcaagctcaggttgaagaaggcagactgcagccacttgcagcaggagatttatcagactcttcatggaaggcccagaccagagtatgttgccatctttggtaatgctgacccagcccagaaaggagggtggaccaggatcctcaacaggcactgcagcatttcagctataaactgtacttcctgctgtctcataccagtttccctggagatccaggtattgtgggcatatgtaggtctcctgtccaacccgcaagctcatgtatcaggagttcgattcctataccagtgccagtctatacaggattctcagcaagttacagaagtatctttgacaactcttgtgaactttgtggacattacccagaagccacagcctccaaggggccaacccaaaatggactggaaatggccattcgacttctttcccttcaaagtggcattcagcagaggagtattctctcaaaaatgctcagtctctcccatccttatcctgtgcctcttactacttggagttctcaacctagagactatgtgaagaaaagaaaataatcagatttcagttttccctatgagaaactctgaggcagccacttatcttggctaaatagaacctcacctgctcatgaccagagagcatttaggataatagaggacctaactgaaggaatccttgtatatgaaaggagttattttagaaaagcaataaaaatattttattcatcatagctctctgctttgggctctgcaggccaccagatacacatgaggcccctacttctcaagctgggaaggccaagagccttccttcagcctttctggttatgttacacctagctgaatgtttacaaggtctggatccatcagccctcaggcacagttgggccaagcagaaagagagaaacacttctgctgtcaccttgaatgaactcaggaatagcttccctctggactgtagaggagctaactgtttggaacagaaaactgctggctgttgattttgtctggttcctttgccaacatctgggcacaccctttgcccagacacgagtggggaaagcagttctttctcctcagtttccaaagtaaatggggaatcccagctttcttttctactagcaaatgaccctaccatttatttctgcctttttcttccgttcattgtgaggaaaaataaaactggttgagagctttgttgtactaattccaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:26123 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:26123 -> Biological process: GO:0007224 [smoothened signaling pathway] evidence: IMP
GeneID:26123 -> Biological process: GO:0060271 [cilium morphogenesis] evidence: ISS
GeneID:26123 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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