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2025-05-09 19:24:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006608 3244 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens putative homeodomain transcription factor 1 (PHTF1),
mRNA.
ACCESSION NM_006608
VERSION NM_006608.2 GI:166197665
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 3244)
AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
Gibbs,R.A. and Butte,N.F.
TITLE Novel genetic loci identified for the pathophysiology of childhood
obesity in the Hispanic population
JOURNAL PLoS ONE 7 (12), E51954 (2012)
PUBMED 23251661
REFERENCE 2 (bases 1 to 3244)
AUTHORS Eriksson,N., Tung,J.Y., Kiefer,A.K., Hinds,D.A., Francke,U.,
Mountain,J.L. and Do,C.B.
TITLE Novel associations for hypothyroidism include known autoimmune risk
loci
JOURNAL PLoS ONE 7 (4), E34442 (2012)
PUBMED 22493691
REFERENCE 3 (bases 1 to 3244)
AUTHORS Douroudis,K., Kisand,K., Nemvalts,V., Rajasalu,T. and Uibo,R.
TITLE Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as
candidate susceptibility factors for the type 1 diabetes in the
Estonian population
JOURNAL BMC Med. Genet. 11, 11 (2010)
PUBMED 20089178
REMARK GeneRIF: Results supports the rs6679677 (PHTF1-PTPN22) SNP as a
susceptibility factor for type 1 diabetes.
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 3244)
AUTHORS Smyth,D.J., Cooper,J.D., Howson,J.M., Walker,N.M., Plagnol,V.,
Stevens,H., Clayton,D.G. and Todd,J.A.
TITLE PTPN22 Trp620 explains the association of chromosome 1p13 with type
1 diabetes and shows a statistical interaction with HLA class II
genotypes
JOURNAL Diabetes 57 (6), 1730-1737 (2008)
PUBMED 18305142
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (bases 1 to 3244)
AUTHORS Todd,J.A., Walker,N.M., Cooper,J.D., Smyth,D.J., Downes,K.,
Plagnol,V., Bailey,R., Nejentsev,S., Field,S.F., Payne,F.,
Lowe,C.E., Szeszko,J.S., Hafler,J.P., Zeitels,L., Yang,J.H.,
Vella,A., Nutland,S., Stevens,H.E., Schuilenburg,H., Coleman,G.,
Maisuria,M., Meadows,W., Smink,L.J., Healy,B., Burren,O.S.,
Lam,A.A., Ovington,N.R., Allen,J., Adlem,E., Leung,H.T.,
Wallace,C., Howson,J.M., Guja,C., Ionescu-Tirgoviste,C.,
Simmonds,M.J., Heward,J.M., Gough,S.C., Dunger,D.B., Wicker,L.S.
and Clayton,D.G.
CONSRTM Genetics of Type 1 Diabetes in Finland; Wellcome Trust Case Control
Consortium
TITLE Robust associations of four new chromosome regions from genome-wide
analyses of type 1 diabetes
JOURNAL Nat. Genet. 39 (7), 857-864 (2007)
PUBMED 17554260
REFERENCE 6 (bases 1 to 3244)
AUTHORS Manuel,A., Beaupain,D., Romeo,P.H. and Raich,N.
TITLE Molecular characterization of a novel gene family (PHTF) conserved
from Drosophila to mammals
JOURNAL Genomics 64 (2), 216-220 (2000)
PUBMED 10729229
REFERENCE 7 (bases 1 to 3244)
AUTHORS Raich,N., Mattei,M.G., Romeo,P.H. and Beaupain,D.
TITLE PHTF, a novel atypical homeobox gene on chromosome 1p13, is
evolutionarily conserved
JOURNAL Genomics 59 (1), 108-109 (1999)
PUBMED 10395808
REFERENCE 8 (bases 1 to 3244)
AUTHORS Siegele,D.A. and Kolter,R.
TITLE Life after log
JOURNAL J. Bacteriol. 174 (2), 345-348 (1992)
PUBMED 1729229
REMARK Review article
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB457884.1, CX763183.1, AJ011863.1, BC002447.2, DA728266.1 and
AK126773.1.
On Jan 29, 2008 this sequence version replaced gi:5729975.
##Evidence-Data-START##
Transcript exon combination :: AJ011863.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-334 DB457884.1 4-337
335-421 CX763183.1 211-297
422-1075 AJ011863.1 1-654
1076-2342 BC002447.2 1220-2486
2343-2720 DA728266.1 266-643
2721-3244 AK126773.1 3420-3943
FEATURES Location/Qualifiers
source 1..3244
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p13"
gene 1..3244
/gene="PHTF1"
/gene_synonym="PHTF"
/note="putative homeodomain transcription factor 1"
/db_xref="GeneID:10745"
/db_xref="HGNC:8939"
/db_xref="MIM:604950"
exon 1..497
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
misc_feature 423..425
/gene="PHTF1"
/gene_synonym="PHTF"
/note="upstream in-frame stop codon"
CDS 453..2741
/gene="PHTF1"
/gene_synonym="PHTF"
/codon_start=1
/product="putative homeodomain transcription factor 1"
/protein_id="NP_006599.2"
/db_xref="GI:166197666"
/db_xref="CCDS:CCDS861.1"
/db_xref="GeneID:10745"
/db_xref="HGNC:8939"
/db_xref="MIM:604950"
/translation="
MASNERDAISWYQKKIGAYDQQIWEKSIEQTQIKGLKNKPKKMGHIKPDLIDVDLIRGSTFAKAKPEIPWTSLTRKGLVRVVFFPLFSNWWIQVTSLRIFVWLLLLYFMQVIAIVLYLMMPIVNISEVLGPLCLMLLMGTVHCQIVSTQITRPSGNNGNRRRRKLRKTVNGDGSRENGNNSSDKVRGIETLESVPIIGGFWETIFGNRIKRVKLISNKGTETDNDPSCVHPIIKRRQCRPEIRMWQTREKAKFSDGEKCRREAFRRLGNGVSDDLSSEEDGEARTQMILLRRSVEGASSDNGCEVKNRKSILSRHLNSQVKKTTTRWCHIVRDSDSLAESEFESAAFSQGSRSGVSGGSRSLNMSRRDSESTRHDSETEDMLWDDLLHGPECRSSVTSDSEGAHVNTLHSGTKRDPKEDVFQQNHLFWLQNSSPSSDRVSAIIWEGNECKKMDMSVLEISGIIMSRVNAYQQGVGYQMLGNVVTIGLAFFPFLHRLFREKSLDQLKSISAEEILTLFCGAPPVTPIIVLSIINFFERLCLTWMFFFMMCVAERTYKQRFLFAKLFSHITSARKARKYEIPHFRLKKVENIKIWLSLRSYLKRRGPQRSVDVVVSSVFLLTLSIAFICCAQVLQGHKTFLNDAYNWEFLIWETALLLFLLRLASLGSETNKKYSNVSILLTEQINLYLKMEKKPNKKEQLTLVNNVLKLSTKLLKELDTPFRLYGLTMNPLIYNITRVVILSAVSGVISDLLGFNIRLWKIKS
"
misc_feature 459..914
/gene="PHTF1"
/gene_synonym="PHTF"
/note="Male germ-cell putative homeodomain transcription
factor; Region: Phtf-FEM1B_bdg; pfam12129"
/db_xref="CDD:152564"
exon 498..554
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 555..624
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 625..783
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
variation 734
/gene="PHTF1"
/gene_synonym="PHTF"
/replace="c"
/replace="t"
/db_xref="dbSNP:2273757"
exon 784..940
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 941..1075
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 1076..1235
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 1236..1409
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 1410..1499
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 1500..1721
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 1722..1850
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 1851..2123
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
variation 2038
/gene="PHTF1"
/gene_synonym="PHTF"
/replace="g"
/replace="t"
/db_xref="dbSNP:1141014"
exon 2124..2255
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 2256..2342
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 2343..2498
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 2499..2594
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 2595..2720
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
exon 2721..3244
/gene="PHTF1"
/gene_synonym="PHTF"
/inference="alignment:Splign:1.39.8"
STS 3040..3162
/gene="PHTF1"
/gene_synonym="PHTF"
/standard_name="SHGC-75355"
/db_xref="UniSTS:30547"
STS 3072..3217
/gene="PHTF1"
/gene_synonym="PHTF"
/standard_name="D1S3609"
/db_xref="UniSTS:34839"
STS 3088..3237
/gene="PHTF1"
/gene_synonym="PHTF"
/standard_name="SHGC-75358"
/db_xref="UniSTS:29463"
variation 3105
/gene="PHTF1"
/gene_synonym="PHTF"
/replace="g"
/replace="t"
/db_xref="dbSNP:1141015"
variation 3106
/gene="PHTF1"
/gene_synonym="PHTF"
/replace="a"
/replace="c"
/db_xref="dbSNP:1141016"
ORIGIN
ctctccggcgtctccgcctggaggggaagatgcggcctgcctggcccgccgcctcgcccccggcctcacggtgggaccccgggcactgaggacggaggtcccgggcgccggcccgcggggcaacgggcactaggtgagagccggacgcgggcgagcgaaggaggcgggtgccgggcgactccagcggcggcccctgcccctcccccgcacccacgaacacgctcgcccgatatattgcagaggcttctccggtcgccgctgcgccagtttttttttgtttgtttgttgtgttttccctggcaaacagctggagaaagagcagctcatggagaggctgagagaagcggttttcgcgtcctacccaaactgggagagtaaccttcagcagctggactcaccgattggttttccttcattttcagtgaaatcccattctctggctggagacacagatggcctcaaatgagagagatgctatatcgtggtaccaaaagaagattggagcctacgatcagcagatatgggaaaagtcaatcgaacagactcagattaagggtttgaaaaacaaaccgaaaaagatgggccacataaagccagacttgattgacgttgacttaatcagagggtcaacatttgccaaagcaaaacctgaaattccatggacatctctgactcggaaggggcttgttcgagttgtattttttccattgttcagcaattggtggattcaggttacctctttaagaatctttgtttggctgttactactttatttcatgcaagttatagcaattgtcttatatttgatgatgcctattgtgaacataagtgaagtacttggacccttgtgccttatgctactcatgggaactgtccactgtcaaattgtgtctactcagataacaagaccatcaggaaacaatggaaatcgaagaagaagaaaattacgaaaaactgtaaatggtgatgggagccgagaaaatggaaataactcctctgataaagtcagaggaatagaaactttggaatctgtacccattattggtggtttttgggagactatctttggcaacaggattaaaagagtaaaattaatatctaacaaagggactgaaactgacaatgacccaagttgtgtccatcctatcattaagaggagacaatgtcgaccagagattagaatgtggcaaacaagagagaaagcaaaattttcagatggagaaaagtgccgtagggaggcttttaggcgtttgggtaatggggtgtctgatgacctgtcaagtgaagaagatggtgaagcacggacacagatgatattattgcgtaggagtgtggaaggggcctcaagtgacaatggttgtgaagttaagaatagaaaatcaatactttcaaggcacctaaactctcaggtaaagaaaaccactacaaggtggtgtcatattgtgcgggattcagatagtctggctgaatcagaatttgaatcagcagccttcagccagggctctagatcgggtgtgagtggtggctctcgaagcctcaacatgtcaagaagagactcagaaagcacccgccatgactcggagactgaggacatgttatgggacgacctgctacatggcccagagtgccggtcatctgtcaccagtgacagtgagggggcccatgtgaatacccttcactcagggaccaaacgtgaccccaaagaggatgtttttcagcagaatcatttattctggcttcagaattcaagtccttcctctgatcgagttagtgcaataatctgggaggggaatgagtgcaaaaagatggatatgtctgtgttggaaataagtggcatcatcatgagcagggtcaatgcctatcagcaaggagtaggttatcagatgctgggaaatgttgtcactattggattagcattttttccattcttacatcgacttttccgtgagaagagccttgaccaactaaagtccatttcagctgaggagatcttgactctcttttgtggggcaccacctgttacacctattattgttttgtcgataattaatttttttgaaagattgtgtcttacttggatgttttttttcatgatgtgtgtggcagagagaacatataaacagagatttttatttgcaaaactcttcagccatattacttctgccaggaaagctaggaaatatgaaatacctcatttcagacttaagaaggtggagaatattaaaatatggttatcactgcgttcctatctaaagagacgggggccacagcgttcagttgatgtggttgtatcctcggttttcctactgacactttcgattgctttcatttgttgtgctcaggttctccaaggacataaaactttcctgaatgatgcttataactgggagtttttgatctgggaaacagctttactactttttttattgcgtctggcctcactggggtctgaaaccaataagaaatacagcaatgtttcaatattacttacagaacagattaatttatatcttaagatggaaaaaaagccaaataagaaagaacagcttactctagtaaacaatgtattaaagctgtccaccaagttgttgaaagagctggacacaccatttagactctatggactgacaatgaatcccttaatctacaatatcacaagagtagttatcctttctgctgtctcaggtgttataagtgatcttctaggatttaatataagactgtggaaaattaaatcataagctgagtaaatgcctggactctcccctggctggtatcaaaacttacctatcaaggaaagtgatgactgcagaaaccagtgagatacccacctgcttgttcacatgcacaggtgctctcagctctgccaaagcgaatgaatggtgtttccggaggagcaagtccttttccaactgggtgtgcatgctaaaaacctgtattttcatgcttttcaaacaacatgaatagtcagctgactaaagactgtgtgtgttgtggtaacacaaagacaattttgtaagtttgcgcttcagtactgtgacagttatgtttactggacatagtcttttgggcaactatgatagatgcccaaagcatgaagcaaatatcttttattggaaatatgcaaattcaatacttttccattatagtctatagaactggagatttcatttctctatcaaagagagatcaagcgaactattttaggttaaatccgaataaaagaactttactggagactttc
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10745 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:10745 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: TAS
GeneID:10745 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:10745 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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