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2024-04-26 04:29:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_015631 2741 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens tectonic family member 3 (TCTN3), transcript variant
1, mRNA.
ACCESSION NM_015631 NM_001013840
VERSION NM_015631.5 GI:221136773
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 2741)
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 2741)
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 BC068449.1, CN427798.1 and
AW517317.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 22, 2009 this sequence version replaced gi:194272211.
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 (1) represents the longer
transcript and encodes the longer 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 :: BC068449.1, AK075357.1 [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
1-2719 BC068449.1 1-2719
2720-2734 CN427798.1 215-229
2735-2741 AW517317.1 1-7 c
FEATURES Location/Qualifiers
source 1..2741
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q24.1"
gene 1..2741
/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..2068
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/note="isoform a precursor is encoded by transcript
variant 1"
/codon_start=1
/product="tectonic-3 isoform a precursor"
/protein_id="NP_056446.4"
/db_xref="GI:221136774"
/db_xref="CCDS:CCDS31258.2"
/db_xref="GeneID:26123"
/db_xref="HGNC:24519"
/db_xref="MIM:613847"
/translation="
MRTPQLALLQVFFLVFPDGVRPQPSSSPSGAVPTSLELQRGTDGGTLQSPSEATATRPAVPGLPTVVPTLVTPSAPGNRTVDLFPVLPICVCDLTPGACDINCCCDRDCYLLHPRTVFSFCLPGSVRSSSWVCVDNSVIFRSNSPFPSRVFMDSNGIRQFCVHVNNSNLNYFQKLQKVNATNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYFPKWSVISLLRQPAGVGAGGLCAESNPAGFLESKSTTCTRFFKNLASSCTLDSALNAASYYNFTVLKVPRSMTDPQNMEFQVPVILTSQANAPLLAGNTCQNVVSQVTYEIETNGTFGIQKVSVSLGQTNLTVEPGASLQQHFILRFRAFQQSTAASLTSPRSGNPGYIVGKPLLALTDDISYSMTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQQEIYQTLHGRPRPEYVAIFGNADPAQKGGWTRILNRHCSISAINCTSCCLIPVSLEIQVLWAYVGLLSNPQAHVSGVRFLYQCQSIQDSQQVTEVSLTTLVNFVDITQKPQPPRGQPKMDWKWPFDFFPFKVAFSRGVFSQKCSVSPILILCLLLLGVLNLETM
"
sig_peptide 245..310
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 311..2065
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/product="Tectonic-3"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6NUS6.2)"
misc_feature 512..1414
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/note="Protein of unknown function (DUF1619); Region:
DUF1619; pfam07773"
/db_xref="CDD:149051"
misc_feature 1988..2050
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6NUS6.2);
transmembrane region"
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..871
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 872..980
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
STS 881..1027
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="D10S1399E"
/db_xref="UniSTS:151397"
exon 981..1096
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1097..1132
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1133..1213
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1214..1339
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1340..1447
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1448..1542
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1543..1696
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
variation 1561
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:34474203"
exon 1697..1834
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
exon 1835..2739
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/inference="alignment:Splign:1.39.8"
STS 2000..2166
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="RH91800"
/db_xref="UniSTS:91159"
STS 2109..2235
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="WI-18689"
/db_xref="UniSTS:72677"
variation 2184
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:6946"
polyA_signal 2235..2240
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
polyA_site 2258
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
STS 2428..2710
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="HSC14E022"
/db_xref="UniSTS:59866"
STS 2486..2657
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="A001X33"
/db_xref="UniSTS:57053"
STS 2486..2657
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="G19757"
/db_xref="UniSTS:57052"
STS 2501..2606
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/standard_name="RH190"
/db_xref="UniSTS:70469"
variation 2638
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1064654"
variation 2643
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:701891"
polyA_signal 2703..2708
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
polyA_site 2739
/gene="TCTN3"
/gene_synonym="C10orf61; JBTS18; OFD4; TECT3"
ORIGIN
ggttgccaggcaacggaggcacggcccggcccgcgttaaggaggagggcgcagaccgaaggacactgaaagagctgtaacaaccccactttcgattggttgaagagctctcagccttctcatgagccaatgagaagaggcacgcggatggcgtcagacgctatgcgactcctcccacccacgctctggcaatgcgattggagaccgcggaggcctacgtcggacccggaggccctgaatgccccatgcgcaccccacagctcgcgctcctgcaagtgttctttctggtgttccccgatggcgtccggcctcagccctcttcctccccatcaggggcagtgcccacgtctttggagctgcagcgagggacggatggcggaaccctccagtccccttcagaggcgactgcaactcgcccggccgtgcctggactccctacagtggtccctactctcgtgactccctcggcccctgggaataggactgtggacctcttcccagtcttaccgatctgtgtctgtgacttgactcctggagcctgcgatataaattgctgctgcgacagggactgctatcttctccatccgaggacagttttctccttctgccttccaggcagcgtaaggtcttcaagctgggtttgtgtagacaactctgttatcttcaggagtaattccccgtttccttcaagagttttcatggattctaatggaatcaggcagttttgtgtccatgtgaacaactcaaacttaaactatttccagaagcttcaaaaggtcaatgcaaccaacttccaggccctggctgcagagtttggaggcgaatcattcacttcaacattccaaactcaatcaccaccatctttttacagggctggggaccccattcttacttacttccccaagtggtctgtaataagcttgctgagacaacctgcaggagttggagctgggggactctgtgctgaaagcaatcctgcaggtttcctagagagtaaaagtacaacttgcactcgttttttcaagaacctggctagtagctgtaccttggattcagccctcaatgctgcctcttactataacttcacagtcttaaaggttccaagaagcatgactgatccacagaatatggagttccaggttcctgtaatacttacctcacaggctaatgctcctctgttggctggaaacacttgtcagaatgtagtttctcaggtcacctatgagatagagaccaatgggacttttggaatccagaaagtttctgtcagtttgggacaaaccaacctgactgttgagccaggcgcttccttacagcaacacttcatccttcgcttcagggcttttcaacagagcacagctgcttctctcaccagtcctagaagtgggaatcctggctatatagttgggaagccactcttggctctgactgatgatataagttactcaatgaccctcttacagagccagggtaatggaagttgctctgttaaaagacatgaagtgcagtttggagtgaatgcaatatctggatgcaagctcaggttgaagaaggcagactgcagccacttgcagcaggagatttatcagactcttcatggaaggcccagaccagagtatgttgccatctttggtaatgctgacccagcccagaaaggagggtggaccaggatcctcaacaggcactgcagcatttcagctataaactgtacttcctgctgtctcataccagtttccctggagatccaggtattgtgggcatatgtaggtctcctgtccaacccgcaagctcatgtatcaggagttcgattcctataccagtgccagtctatacaggattctcagcaagttacagaagtatctttgacaactcttgtgaactttgtggacattacccagaagccacagcctccaaggggccaacccaaaatggactggaaatggccattcgacttctttcccttcaaagtggcattcagcagaggagtattctctcaaaaatgctcagtctctcccatccttatcctgtgcctcttactacttggagttctcaacctagagactatgtgaagaaaagaaaataatcagatttcagttttccctatgagaaactctgaggcagccacttatcttggctaaatagaacctcacctgctcatgaccagagagcatttaggataatagaggacctaactgaaggaatccttgtatatgaaaggagttattttagaaaagcaataaaaatattttattcatcatagctctctgctttgggctctgcaggccaccagatacacatgaggcccctacttctcaagctgggaaggccaagagccttccttcagcctttctggttatgttacacctagctgaatgtttacaaggtctggatccatcagccctcaggcacagttgggccaagcagaaagagagaaacacttctgctgtcaccttgaatgaactcaggaatagcttccctctggactgtagaggagctaactgtttggaacagaaaactgctggctgttgattttgtctggttcctttgccaacatctgggcacaccctttgcccagacacgagtggggaaagcagttctttctcctcagtttccaaagtaaatggggaatcccagctttcttttctactagcaaatgaccctaccatttatttctgcctttttcttccgttcattgtgaggaaaaataaaactggttgagagctttgttgtactaattccaaa
//
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
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