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2024-04-20 06:19:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002653 2383 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.
ACCESSION NM_002653
VERSION NM_002653.4 GI:152963643
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 2383)
AUTHORS Jia WH, Zhang B, Matsuo K, Shin A, Xiang YB, Jee SH, Kim DH, Ren Z,
Cai Q, Long J, Shi J, Wen W, Yang G, Delahanty RJ, Ji BT, Pan ZZ,
Matsuda F, Gao YT, Oh JH, Ahn YO, Park EJ, Li HL, Park JW, Jo J,
Jeong JY, Hosono S, Casey G, Peters U, Shu XO, Zeng YX and Zheng W.
CONSRTM Colon Cancer Family Registry (CCFR); Genetics and Epidemiology of
Colorectal Cancer Consortium (GECCO)
TITLE Genome-wide association analyses in East Asians identify new
susceptibility loci for colorectal cancer
JOURNAL Nat. Genet. 45 (2), 191-196 (2013)
PUBMED 23263487
REFERENCE 2 (bases 1 to 2383)
AUTHORS Knosel,T., Chen,Y., Hotovy,S., Settmacher,U., Altendorf-Hofmann,A.
and Petersen,I.
TITLE Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are
associated with tumor progression and survival in colorectal
carcinoma
JOURNAL Int J Colorectal Dis 27 (11), 1391-1399 (2012)
PUBMED 22438068
REMARK GeneRIF: High expression of desmocollin 1 (DSC1) was observed in
41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in
58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in
42.5%, and MDM2 in 0.2% of colorectal carcinomas.
REFERENCE 3 (bases 1 to 2383)
AUTHORS Spielmann,M., Brancati,F., Krawitz,P.M., Robinson,P.N.,
Ibrahim,D.M., Franke,M., Hecht,J., Lohan,S., Dathe,K.,
Nardone,A.M., Ferrari,P., Landi,A., Wittler,L., Timmermann,B.,
Chan,D., Mennen,U., Klopocki,E. and Mundlos,S.
TITLE Homeotic arm-to-leg transformation associated with genomic
rearrangements at the PITX1 locus
JOURNAL Am. J. Hum. Genet. 91 (4), 629-635 (2012)
PUBMED 23022097
REMARK GeneRIF: Identified two deletions and a translocation 5' of PITX1.
REFERENCE 4 (bases 1 to 2383)
AUTHORS Pajewski,N.M., Shrestha,S., Quinn,C.P., Parker,S.D., Wiener,H.,
Aissani,B., McKinney,B.A., Poland,G.A., Edberg,J.C., Kimberly,R.P.,
Tang,J. and Kaslow,R.A.
TITLE A genome-wide association study of host genetic determinants of the
antibody response to Anthrax Vaccine Adsorbed
JOURNAL Vaccine 30 (32), 4778-4784 (2012)
PUBMED 22658931
REFERENCE 5 (bases 1 to 2383)
AUTHORS Klopocki,E., Kahler,C., Foulds,N., Shah,H., Joseph,B., Vogel,H.,
Luttgen,S., Bald,R., Besoke,R., Held,K., Mundlos,S. and Kurth,I.
TITLE Deletions in PITX1 cause a spectrum of lower-limb malformations
including mirror-image polydactyly
JOURNAL Eur. J. Hum. Genet. 20 (6), 705-708 (2012)
PUBMED 22258522
REMARK GeneRIF: mutations in PITX1 can cause a broad spectrum of isolated
lower-limb malformations including clubfoot, deficiency of long
bones, and mirror-image polydactyly.
REFERENCE 6 (bases 1 to 2383)
AUTHORS Poulin,G., Turgeon,B. and Drouin,J.
TITLE NeuroD1/beta2 contributes to cell-specific transcription of the
proopiomelanocortin gene
JOURNAL Mol. Cell. Biol. 17 (11), 6673-6682 (1997)
PUBMED 9343431
REFERENCE 7 (bases 1 to 2383)
AUTHORS Shang,J., Luo,Y. and Clayton,D.A.
TITLE Backfoot is a novel homeobox gene expressed in the mesenchyme of
developing hind limb
JOURNAL Dev. Dyn. 209 (2), 242-253 (1997)
PUBMED 9186059
REFERENCE 8 (bases 1 to 2383)
AUTHORS Shang,J., Li,X., Ring,H.Z., Clayton,D.A. and Francke,U.
TITLE Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT)
and mouse chromosome 13 (Bft)
JOURNAL Genomics 40 (1), 108-113 (1997)
PUBMED 9070926
REFERENCE 9 (bases 1 to 2383)
AUTHORS Crawford,M.J., Lanctot,C., Tremblay,J.J., Jenkins,N., Gilbert,D.,
Copeland,N., Beatty,B. and Drouin,J.
TITLE Human and murine PTX1/Ptx1 gene maps to the region for Treacher
Collins syndrome
JOURNAL Mamm. Genome 8 (11), 841-845 (1997)
PUBMED 9337397
REFERENCE 10 (bases 1 to 2383)
AUTHORS Szeto,D.P., Ryan,A.K., O'Connell,S.M. and Rosenfeld,M.G.
TITLE P-OTX: a PIT-1-interacting homeodomain factor expressed during
anterior pituitary gland development
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (15), 7706-7710 (1996)
PUBMED 8755540
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BX362641.2, BC009412.1 and
AC008406.7.
This sequence is a reference standard in the RefSeqGene project.
On Jul 24, 2007 this sequence version replaced gi:24234701.
Summary: This gene encodes a member of the RIEG/PITX homeobox
family, which is in the bicoid class of homeodomain proteins.
Members of this family are involved in organ development and
left-right asymmetry. This protein acts as a transcriptional
regulator involved in basal and hormone-regulated activity of
prolactin. [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 :: BX362641.2, U70370.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-65 BX362641.2 1-65
66-1541 BC009412.1 1-1476
1542-2383 AC008406.7 17486-18327 c
FEATURES Location/Qualifiers
source 1..2383
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q31.1"
gene 1..2383
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/note="paired-like homeodomain 1"
/db_xref="GeneID:5307"
/db_xref="HGNC:9004"
/db_xref="MIM:602149"
exon 1..562
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/inference="alignment:Splign:1.39.8"
misc_feature 175..177
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/note="upstream in-frame stop codon"
CDS 394..1338
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/note="paired-like homeodomain transcription factor 1;
pituitary homeo box 1; pituitary otx-related factor;
hindlimb expressed homeobox protein backfoot; homeobox
protein PITX1; hindlimb-expressed homeobox protein
backfoot"
/codon_start=1
/product="pituitary homeobox 1"
/protein_id="NP_002644.4"
/db_xref="GI:152963644"
/db_xref="CCDS:CCDS4182.1"
/db_xref="GeneID:5307"
/db_xref="HGNC:9004"
/db_xref="MIM:602149"
/translation="
MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKERGGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMREEIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYSYNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPSSISSMTMPSSMGPGAVPGMPNSGLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNSSLASLRLKSKQHSSFGYGGLQGPASGLNACQYNS
"
misc_feature 529..531
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P78337.2); phosphorylation site"
misc_feature 535..537
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P78337.2); phosphorylation site"
misc_feature 661..837
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/note="Homeodomain; DNA binding domains involved in the
transcriptional regulation of key eukaryotic developmental
processes; may bind to DNA as monomers or as homo- and/or
heterodimers, in a sequence-specific manner; Region:
homeodomain; cd00086"
/db_xref="CDD:28970"
misc_feature order(661..675,679..681,730..732,748..750,787..789,
793..798,805..810,814..822,826..831)
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(667..669,676..678,796..798,805..810,817..819)
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 832..1230
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78337.2);
Region: Interacts with PIT-1 (By similarity)"
misc_feature 1216..1272
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/note="OAR domain; Region: OAR; pfam03826"
/db_xref="CDD:146451"
misc_feature 1231..1272
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78337.2);
Region: OAR"
misc_feature 1249..1263
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P78337.2);
Region: Nuclear localization signal (Potential)"
exon 563..795
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/inference="alignment:Splign:1.39.8"
exon 796..2383
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/inference="alignment:Splign:1.39.8"
variation 811
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1131611"
STS 920..1070
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/standard_name="Pitx1"
/db_xref="UniSTS:527004"
variation 1289
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:479632"
variation 1392
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1131614"
variation 1550..1551
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/replace=""
/replace="a"
/db_xref="dbSNP:70976562"
variation 1649..1650
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/replace=""
/replace="gt"
/db_xref="dbSNP:70976561"
variation 2129
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1051294"
variation 2265
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1051297"
polyA_signal 2317..2322
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
polyA_site 2336
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
polyA_signal 2354..2359
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
polyA_site 2383
/gene="PITX1"
/gene_synonym="BFT; CCF; LBNBG; POTX; PTX1"
ORIGIN
cctggcgcagggactgctggaacctggctgtgcgcgctgtcgctttaagacagactctgccggcgccgtccggagccttagaaaccggccccggatcgcgagccggagccggagccggagccggggccggccgggctgctgaggcccgagcggcaggagcgcagcgcggagcgctgagccaggcgcccagtcgcgagaagctgccgccgcctctgcccgcccggcgccgcagccccgggcggtccatggggcgggcacggcgtcgctgcaggcgccggcagccctggagggcagccgcttaggcgctgcgctcttgtccccgcaggtcgcagccagggcggcggggcgcgcccagccccggcccctggagcgcccgccgcggtccccacctccatggacgccttcaaggggggcatgagcctggagcggctgccggaggggctccggccgccgccgccgccaccccatgacatggggcccgccttccacctggcccggcccgccgacccccgcgagccgctcgagaactccgccagcgagtcgtctgacacggagctgccagagaaggagcgcggcggggaacccaaggggcccgaggacagtggtgcgggaggcacgggctgcggcggcgcagacgacccagccaagaagaagaagcagcggcggcaacgtacgcacttcacaagccagcagttgcaagagctagaggccacgttccagaggaaccgctaccccgacatgagcatgagggaggagatcgccgtgtggaccaacctcaccgagccgcgcgtgcgggtctggttcaagaaccggcgagccaagtggcgtaagcgcgagcgtaaccagcagctggacctgtgcaagggtggctacgtgccgcagttcagcggcctagtgcagccctacgaggacgtgtacgccgccggctactcctacaacaactgggccgccaagagcctggcgccagcgccgctctccaccaagagcttcaccttcttcaactccatgagcccgctgtcgtcgcagtccatgttctcagcacccagctccatctcctccatgaccatgccgtccagcatgggcccaggcgccgtgcctggcatgcccaactcgggcctcaacaacatcaacaacctcaccggctcctcgctcaactcggccatgtcgccgggcgcttgcccgtacggcactcccgcctcgccctacagcgtctaccgggacacgtgcaactcgagcctagccagcctgcggctcaagtccaaacagcactcgtcgtttggctacggcggcctgcagggcccggcctcgggcctcaacgcgtgccagtacaacagctgaccgccccgccgcaccacgcgggccggcggccggagcggggaagggcgcgggcgcgggcgcggaggacgcacgcggggccccggctcgcaagccccagctcaccgcgccgcggacctcacacctgcgcagccccctcctcccacttcccactccgggttggttttgtgtttgcttttccggaccccactctgccctccaaaaagacaaaaaaaaaaaaaaaaaaaaaaaagcaaaaagacgtcggagaaaagtgccgcgaaaaaatggatgagttgcaatttctctcgggatggcgcgggtggtgtgtgtgttcccacgggccccggaggcccactccgcggagggcacgcggcgcggtaggcgagcgccgaggcccagcggccgggggaggacgacctcgtatcccgcgtccccgccgcgctggatccggactgagtggccgggcctgcggactggatgtgcggggcctggacttgcctaggatttcccgaccccgtacaaaccaagttgccctctccgagctaggcccggccgagagcgccttagctcgagtcggatccgtgttggggcgggcgttgggtttggggggacggtgcccccagcccaggatcgggcactcagtggagccgcacacggccccggcgcgcctggtagagcctcgctggccccgcgccccggagccctatattaaggccacggagcgacagcgggcagtgcgggcctggcgggaggtgggggaggtccatctcagaacaccccagccttgagcttagctgcaggcccaggccctctgctctgctcccgggctaggaggtggccctctgtctgggcgaacagccccctcctcaccgcccgccgtgcaagagtcgagccggcagagcaaggggcgcggccccagggccctgcgcccactttgcacacccgctctccggcccgcgcccctgtttacagcgtccctgtgtatgttggactgactgtaataaatctgtctatatcgacttgtccatgtacgtctattaaaaccatagtccgagcgtgctaagca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5307 -> Molecular function: GO:0000988 [protein binding transcription factor activity] evidence: IEA
GeneID:5307 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:5307 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:5307 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS
GeneID:5307 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:5307 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:5307 -> Biological process: GO:0014707 [branchiomeric skeletal muscle development] evidence: IEA
GeneID:5307 -> Biological process: GO:0021983 [pituitary gland development] evidence: IEA
GeneID:5307 -> Biological process: GO:0035116 [embryonic hindlimb morphogenesis] evidence: IEA
GeneID:5307 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:5307 -> Biological process: GO:0048625 [myoblast fate commitment] evidence: IEA
GeneID:5307 -> Biological process: GO:0051216 [cartilage development] evidence: IEA
GeneID:5307 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
GeneID:5307 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:5307 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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