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2024-04-17 07:07:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_153365 4610 bp mRNA linear PRI 11-JUN-2013
DEFINITION Homo sapiens transmembrane anterior posterior transformation 1
(TAPT1), mRNA.
ACCESSION NM_153365
VERSION NM_153365.2 GI:130977755
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 4610)
AUTHORS Howell,G.R., Shindo,M., Murray,S., Gridley,T., Wilson,L.A. and
Schimenti,J.C.
TITLE Mutation of a ubiquitously expressed mouse transmembrane protein
(Tapt1) causes specific skeletal homeotic transformations
JOURNAL Genetics 175 (2), 699-707 (2007)
PUBMED 17151244
REMARK GeneRIF: A perinatal lethal mutation in mouse Tapt1 results in
homeotic, posterior-to-anterior transformations of the axial
skeleton.
REFERENCE 2 (bases 1 to 4610)
AUTHORS Baldwin,B.R., Zhang,C.O. and Keay,S.
TITLE Cloning and epitope mapping of a functional partial fusion receptor
for human cytomegalovirus gH
JOURNAL J. Gen. Virol. 81 (PT 1), 27-35 (2000)
PUBMED 10640539
REFERENCE 3 (bases 1 to 4610)
AUTHORS Baldwin,B.R., Kleinberg,M. and Keay,S.
TITLE Molecular cloning and expression of receptor peptides that block
human cytomegalovirus/cell fusion
JOURNAL Biochem. Biophys. Res. Commun. 219 (2), 668-673 (1996)
PUBMED 8605045
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB461077.1, BC066899.1,
AC108063.3 and AA811306.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 14, 2007 this sequence version replaced gi:23503310.
Summary: This gene encodes a highly conserved, putative
transmembrane protein. A mutation in the mouse ortholog of this
gene results in homeotic, posterior-to-anterior transformations of
the axial skeleton which are similar to the phenotype of mouse
homeobox C8 gene mutants. This gene is proposed to function
downstream of homeobox C8 to transduce extracellular patterning
information during axial skeleton development. An alternatively
spliced transcript variant encoding a substantially different
isoform has been described, but its biological validity has not
been determined. [provided by RefSeq, Jul 2008].
##Evidence-Data-START##
Transcript exon combination :: BC066899.1, AK074494.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-62 DB461077.1 4-65
63-2350 BC066899.1 1-2288
2351-4258 AC108063.3 133555-135462 c
4259-4610 AA811306.1 1-352 c
FEATURES Location/Qualifiers
source 1..4610
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p15.32"
gene 1..4610
/gene="TAPT1"
/gene_synonym="CMVFR"
/note="transmembrane anterior posterior transformation 1"
/db_xref="GeneID:202018"
/db_xref="HGNC:26887"
/db_xref="MIM:612758"
exon 1..280
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
CDS 82..1785
/gene="TAPT1"
/gene_synonym="CMVFR"
/note="cytomegalovirus partial fusion receptor"
/codon_start=1
/product="transmembrane anterior posterior transformation
protein 1 homolog"
/protein_id="NP_699196.2"
/db_xref="GI:130977756"
/db_xref="CCDS:CCDS47030.1"
/db_xref="GeneID:202018"
/db_xref="HGNC:26887"
/db_xref="MIM:612758"
/translation="
MAGVGDAAAPGEGGGGGVDGPQRDGRGEAEQPGGSGGQGPPPAPQLTETLGFYESDRRRERRRGRTELSLLRFLSAELTRGYFLEHNEAKYTERRERVYTCLRIPRELEKLMVFGIFLCLDAFLYVFTLLPLRVFLALFRLLTLPCYGLRDRRLLQPAQVCDILKGVILVICYFMMHYVDYSMMYHLIRGQSVIKLYIIYNMLEVADRLFSSFGQDILDALYWTATEPKERKRAHIGVIPHFFMAVLYVFLHAILIMVQATTLNVAFNSHNKSLLTIMMSNNFVEIKGSVFKKFEKNNLFQMSNSDIKERFTNYVLLLIVCLRNMEQFSWNPDHLWVLFPDVCMVIASEIAVDIVKHAFITKFNDITADVYSEYRASLAFDLVSSRQKNAYTDYSDSVARRMGFIPLPLAVLLIRVVTSSIKVQGILSYACVILFYFGLISLKVLNSIVLLGKSCQYVKEAKMEEKLSNPPATCTPGKPSSKSQNKCKPSQGLSTEENLSASITKQPIHQKENIIPLLVTSNSDQFLTTPDGDEKDITQDNSELKHRSSKKDLLEIDRFTICGNRID
"
misc_feature 412..474
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6NXT6.1);
transmembrane region"
misc_feature 535..1467
/gene="TAPT1"
/gene_synonym="CMVFR"
/note="Eukaryotic membrane protein family; Region: DUF747;
pfam05346"
/db_xref="CDD:203235"
misc_feature 550..618
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6NXT6.1);
transmembrane region"
misc_feature 787..849
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6NXT6.1);
transmembrane region"
misc_feature 1288..1350
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6NXT6.1);
transmembrane region"
misc_feature 1375..1437
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q6NXT6.1);
transmembrane region"
exon 281..411
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 412..530
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 531..693
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 694..829
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 830..927
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 928..997
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 998..1078
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 1079..1188
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 1189..1248
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 1249..1317
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 1318..1394
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 1395..1555
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
exon 1556..4588
/gene="TAPT1"
/gene_synonym="CMVFR"
/inference="alignment:Splign:1.39.8"
variation 2227
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="c"
/replace="t"
/db_xref="dbSNP:7359"
variation 2263
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="c"
/replace="g"
/db_xref="dbSNP:1046234"
polyA_signal 2327..2332
/gene="TAPT1"
/gene_synonym="CMVFR"
polyA_site 2350
/gene="TAPT1"
/gene_synonym="CMVFR"
STS 2424..2577
/gene="TAPT1"
/gene_synonym="CMVFR"
/standard_name="SHGC-67683"
/db_xref="UniSTS:69669"
variation 2486
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="a"
/replace="g"
/db_xref="dbSNP:10516298"
variation 3022
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="c"
/replace="g"
/db_xref="dbSNP:317853"
variation 3230
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="a"
/replace="g"
/db_xref="dbSNP:10516299"
variation 3451
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="c"
/replace="g"
/db_xref="dbSNP:317854"
variation 3495
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="a"
/replace="g"
/db_xref="dbSNP:9946"
variation 3507
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="a"
/replace="g"
/db_xref="dbSNP:13634"
STS 3648..3775
/gene="TAPT1"
/gene_synonym="CMVFR"
/standard_name="SHGC-24737"
/db_xref="UniSTS:77421"
polyA_signal 3771..3776
/gene="TAPT1"
/gene_synonym="CMVFR"
polyA_site 3802
/gene="TAPT1"
/gene_synonym="CMVFR"
variation 4242
/gene="TAPT1"
/gene_synonym="CMVFR"
/replace="g"
/replace="t"
/db_xref="dbSNP:317855"
STS 4449..4569
/gene="TAPT1"
/gene_synonym="CMVFR"
/standard_name="RH69420"
/db_xref="UniSTS:82773"
polyA_site 4588
/gene="TAPT1"
/gene_synonym="CMVFR"
ORIGIN
gggcggggcgaggcggggagggggccggccggaggcagaggctggagggaggcggcggggacagtttgttgtgctcggaacatggcgggcgtcggcgacgcggccgctccgggagaaggcggcggtggcggcgtggacggcccgcagcgggacggccgcggcgaggcggagcagccgggcggcagcggcggacaggggcccccgccggcgcctcagctcacagagacgctgggcttctacgagagcgaccggcggcgggagaggcgccggggccgcacagagctttcattgttgaggttcctcagtgctgaactaacaagagggtacttccttgaacataatgaggccaagtatacagaaagaagagaaagagtatacacttgtttgcgaataccaagagaattggaaaagctgatggtttttggaatctttctgtgcctggatgcgtttttgtatgtgttcaccctgcttcctttaagagttttcctggcactattcaggctcctcactttgccttgctatggcttaagggacagacgtttgcttcagcctgcccaggtgtgtgacattttgaagggtgtcattttggtaatctgctattttatgatgcactatgttgactactccatgatgtaccacctgataagggggcagtccgtcatcaagctctacatcatctacaacatgctggaggtagctgatcgtctgttttcatcttttggacaagacatattagatgctctctattggacagcaacagagcctaaagaaagaaaaagagcccacattggggtgattcctcactttttcatggctgttctctatgtctttttgcatgcaattcttataatggttcaagcaacaactctcaatgtagcttttaactcacacaacaagtctttgcttactatcatgatgtctaataattttgttgaaattaaaggaagtgttttcaagaagtttgaaaagaacaatctctttcaaatgtcaaatagcgatattaaggaacgattcacaaattatgtgcttttactgatagtgtgtctaagaaacatggaacagttttcttggaatccagatcatctctgggtgttgtttccagatgtctgtatggtaattgcatcagaaattgccgtggatattgtaaaacatgcctttattactaaattcaatgacattactgcagatgtctacagtgaatatagagccagtcttgcttttgaccttgttagcagccgacagaaaaatgcatacactgattacagtgactctgtagcacggaggatgggctttattcctctcccactagctgttttactcatcagagttgtaacaagctcaattaaagtgcaaggaatcctgtcttatgcctgtgtcatactcttctattttgggttgatatccctgaaagtacttaatagcatcgtgctgttggggaaatcgtgccagtatgtgaaggaagccaaaatggaagagaagctgtcgaatcctcccgcaacctgcactccaggcaagccgtccagtaaatcacagaacaaatgtaaaccctctcaaggcctttccacagaagaaaacctgtctgcctccatcaccaaacaacctattcatcaaaaggaaaatatcataccattacttgtgacaagcaattctgatcagtttttgacaactccagatggtgacgagaaggacataacgcaggacaattctgaattaaaacacagatcctcaaagaaagatttgttagagatagacaggttcacaatttgtggaaaccgaattgactgaatctgtggcttcatgcgctgaagaagctgggtcctggggcaacaagtgctgtgttgccaggacaaatagatgctaaacatggcacttaaatatttatttaaaaacttaaattattattggcaagcaaatcttagtatctttcttccagtaatatggcctggctgagggtcagaccacaggacaggagcgacctccggccttgactgtctgggaagcttgatggattataaaacttcctcctgcctggccaagcagcagcatcatttccaggacccaacaaaggcaacatcaaaatctgttttgctttgtcagtctgggcttccagaatgttgaatttgcctcaaggcctcttcagtataaggaaatacctggaaaactgtgaaacttttaccacgacgtaatctttccagtctcatactattttcacaaacagttttcaaacgttacttcatctgccaaagcattaaaaaaattaaacataagtcaagataaatgttcttaccaccagaataacccttaaagatgtatcttaattaatcagaataaaaggctaccttaaataagacatgatgaatagtagcattttgtagggttaaaaaaaaatgctaaactagtttatttattaaaaaaataattaatgaaggctatgcattactgggaaaaatccttcataatttttcagtttactctttaaagcaaaatgtgagctgtatgtcatttaattggtggataaaacaaatttccttacaaaagggcactttttacaccaaggaagcagagcagtgttaactttaaggtatacttaactgattttgctttaaaactaattacttcataaattattacagctaaaaggattcgatgttgaacaggctgaaaaattgtcaatgtacaaaattcaaaactgtcaactttaactgtaaagtaaatgctccaagtgtgttagacagcatcatcttgcttgggcttaccaaatgcattagtctttgtgtttgggtcgacagcgagtgtgcctgtgctggggcagggtgtgtgttctgtgggagggtgtctgtggggatgtgactatcagggtgggcctgtgctggggatggggcaggcctgggtctggagaggattttgtgtgaaagtaaatggggtgtttgaggcgtatgggtggctgttggtgtggggaggcatctgtgtatggctgttgggaacagcaaccaaaaggtgctttttggttttatttgagatgaagattgtgtttccgcttaattactagtttgtggtctatatcatagaagttatttcccaccccattttatcttgacaaccgtgtttgcatttctgtaaaacttctacaacttctggtgtcagaactgtccagaagatggtactgttaactgttatttcctttgatgttttgattttgaagtttagctctcatgcaaatgtttcaggcgtacatacataggcagaaagcaatttttaggtgatttgtctgtttcttggatgaaatataaagcaagctttaatgttctgacttgttcatttgaaatacaaaaaagtaagtgaattttaatgttttgcattaactaaagaaatctgaagattaatgttgaggaaattgtatggacatgcctttgtgaaaccaggaagtattttaagttaaaaatgaaaaaggttttaattgctttgtgtgtgttttaatggagccccattttagaattattttttccatctccctttaccaacaaaaggaacaatgccaccgtgaatggaatagtttggggaaagctttgccaaacacaaccctgatttcagagcaggaacatggtttggatagatcttcagttccgcttgaattattctgttactgcgctgtcattttcagaagatttccattcctttgcagatgctgttgggagttcgggattatgttcatttcttctgttttaatggcattcagtactaattttataagtgcatcttgtgtgaatctcaataaattcagttttgtaatcttttttaaaaaggtcactgaatttattttaatatttactattgtatttggtagagtgaatttcccactgtataataagtatttatttgtaattcacaagtgatagagctatcttaatttgaattattgctttggtcttaatggtggcaaaatgtttaattttgtctttggaaaaaataggctcggccttgattatagaccatttaatatttctcagcaaatgaaggtatttgcattttacaagtgttttgaatgtcacacaaaatatttttcacatctgggagtcaagttcaagacagtgctttggttttaaaaaaatctaatgaaggcacaggataggccagacccttattaggttttcctttagaataagtgtaaagaccaagtgtcactgatacgcttgtccagattttcttgtggactttggccagtatttagagtttatattcatgttacataaagtgaaagaaacttgctataattaggccatcaaaatatatcctgccactcctggtaactcagcagaggaggagataaatttacaaaataatgtaatatctctacattgttacatgttttcaactattttttatcaacaaagatttgttaatcacttcctatgtgtcagaaactgttctaagtggtgggatcagcaatgagcaagataagtccctgttcgtctgtggaagactgataggaacaagtcgatgaaataatgtctgctggtcacagagtgtccactgaccaaatgatctctcaggcttatttcagctctaaaatatagttctttaaaacgttaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:202018 -> Molecular function: GO:0016520 [growth hormone-releasing hormone receptor activity] evidence: TAS
GeneID:202018 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
GeneID:202018 -> Biological process: GO:0009791 [post-embryonic development] evidence: IEA
GeneID:202018 -> Biological process: GO:0048706 [embryonic skeletal system development] evidence: IEA
GeneID:202018 -> Cellular component: GO:0016021 [integral to membrane] evidence: TAS
by
@meso_cacase at
DBCLS
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