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2024-04-26 04:51:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256427 3834 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 7,
mRNA.
ACCESSION NM_001256427
VERSION NM_001256427.1 GI:374093209
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 3834)
AUTHORS Hui,J., Wang,J.Y., Shi,X.H., Zhang,Y.G., Liu,M., Wang,X.,
Wang,N.N., Chen,X., Liang,S.Y., Wei,D., Zhao,F., Zhang,Y.H. and
Yang,Z.
TITLE [Association of prostate cancer with PDLIM5, SLC22A3 and NKX3-1 in
Chinese men]
JOURNAL Zhonghua Nan Ke Xue 18 (5), 404-411 (2012)
PUBMED 22741436
REMARK GeneRIF: PDLIM5 (rs17021918,T), SLC22A3 (rs9364554,C) and NKX3-1
(rs1512268,A) SNPs might not be associated with prostate cancer in
Chinese men.
REFERENCE 2 (bases 1 to 3834)
AUTHORS Zain,M.A., Jahan,S.N., Reynolds,G.P., Zainal,N.Z., Kanagasundram,S.
and Mohamed,Z.
TITLE Peripheral PDLIM5 expression in bipolar disorder and the effect of
olanzapine administration
JOURNAL BMC Med. Genet. 13, 91 (2012)
PUBMED 23031404
REMARK GeneRIF: The significant difference in expression of PDLIM5 mRNA in
the peripheral blood leukocytes of treatment-naive bipolar (BPD)
patients versus that of healthy control subjects suggests that it
may be a good biological marker for BPD.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 3834)
AUTHORS Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman
K, Johnson AD, Foster MC, Greenawalt DM, Griffin P, Ding J, Newman
AB, Tylavsky F, Miljkovic I, Kritchevsky SB, Launer L, Garcia M,
Eiriksdottir G, Carr JJ, Gudnason V, Harris TB, Cupples LA and
Borecki IB.
CONSRTM GIANT Consortium; MAGIC Consortium; GLGC Consortium
TITLE Genome-wide association for abdominal subcutaneous and visceral
adipose reveals a novel locus for visceral fat in women
JOURNAL PLoS Genet. 8 (5), E1002695 (2012)
PUBMED 22589738
REFERENCE 4 (bases 1 to 3834)
AUTHORS Lasorella,A. and Iavarone,A.
TITLE The protein ENH is a cytoplasmic sequestration factor for Id2 in
normal and tumor cells from the nervous system
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (13), 4976-4981 (2006)
PUBMED 16549780
REMARK GeneRIF: ENH is a restraining factor of the oncogenic activity of
inhibitor of DNA binding 2 proteins in neural tumors
REFERENCE 5 (bases 1 to 3834)
AUTHORS Niederlander,N., Fayein,N.A., Auffray,C. and Pomies,P.
TITLE Characterization of a new human isoform of the enigma homolog
family specifically expressed in skeletal muscle
JOURNAL Biochem. Biophys. Res. Commun. 325 (4), 1304-1311 (2004)
PUBMED 15555569
REMARK GeneRIF: Western blot studies of muscle tissues revealed that ENH4
is present only in skeletal muscle and there is a specific
distribution of ENH members between skeletal and cardiac muscles,
which is different in human and mouse.
REFERENCE 6 (bases 1 to 3834)
AUTHORS Wu,M., Li,Y., Ji,C., Xu,J., Zheng,H., Zou,X., Gu,S., Lou,Y., Xie,Y.
and Mao,Y.
TITLE Cloning and identification of a novel human gene PDLIM5, a homolog
of AD-associated neuronal thread protein (AD7c-NTP)
JOURNAL DNA Seq. 15 (2), 144-147 (2004)
PUBMED 15346770
REFERENCE 7 (bases 1 to 3834)
AUTHORS Maeno-Hikichi,Y., Chang,S., Matsumura,K., Lai,M., Lin,H.,
Nakagawa,N., Kuroda,S. and Zhang,J.F.
TITLE A PKC epsilon-ENH-channel complex specifically modulates N-type
Ca2+ channels
JOURNAL Nat. Neurosci. 6 (5), 468-475 (2003)
PUBMED 12665800
REFERENCE 8 (bases 1 to 3834)
AUTHORS Nakagawa,N., Hoshijima,M., Oyasu,M., Saito,N., Tanizawa,K. and
Kuroda,S.
TITLE ENH, containing PDZ and LIM domains, heart/skeletal muscle-specific
protein, associates with cytoskeletal proteins through the PDZ
domain
JOURNAL Biochem. Biophys. Res. Commun. 272 (2), 505-512 (2000)
PUBMED 10833443
REFERENCE 9 (bases 1 to 3834)
AUTHORS Ueki,N., Seki,N., Yano,K., Masuho,Y., Saito,T. and Muramatsu,M.
TITLE Isolation, tissue expression, and chromosomal assignment of a human
LIM protein gene, showing homology to rat enigma homologue (ENH)
JOURNAL J. Hum. Genet. 44 (4), 256-260 (1999)
PUBMED 10429367
REFERENCE 10 (bases 1 to 3834)
AUTHORS Kuroda,S., Tokunaga,C., Kiyohara,Y., Higuchi,O., Konishi,H.,
Mizuno,K., Gill,G.N. and Kikkawa,U.
TITLE Protein-protein interaction of zinc finger LIM domains with protein
kinase C
JOURNAL J. Biol. Chem. 271 (49), 31029-31032 (1996)
PUBMED 8940095
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA895978.1, AK304125.1,
AC093778.3, AC108067.3 and AA614664.1.
Summary: This gene encodes a member of a family of proteins that
possess a 100-amino acid PDZ domain at the N terminus and one to
three LIM domains at the C-terminus. This family member functions
as a scaffold protein that tethers protein kinases to the Z-disk in
striated muscles. It is thought to function in cardiomyocyte
expansion and in restraining postsynaptic growth of excitatory
synapses. Alternative splicing of this gene results in multiple
transcript variants. [provided by RefSeq, Jan 2012].
Transcript Variant: This variant (7) uses an alternate in-frame
splice site in the 5' coding region, contains an additional
in-frame exon in the central coding region, and uses alternate 3'
exon structure and thus differs in the 3' coding region and 3' UTR,
compared to variant 1. The encoded isoform (g) has a distinct
C-terminus and is shorter than isoform a.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: AK304125.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-78 DA895978.1 1-78
79-708 AK304125.1 1-630
709-709 AC093778.3 104472-104472
710-1346 AK304125.1 632-1268
1347-1347 AC108067.3 35692-35692
1348-1714 AK304125.1 1270-1636
1715-3385 AC108067.3 44363-46033
3386-3834 AA614664.1 3-451 c
FEATURES Location/Qualifiers
source 1..3834
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q22"
gene 1..3834
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="PDZ and LIM domain 5"
/db_xref="GeneID:10611"
/db_xref="HGNC:17468"
/db_xref="MIM:605904"
exon 1..139
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 24
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:138430072"
variation 49
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:192733830"
variation 63
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:184767586"
variation 70
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:143611898"
variation 79
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:28736374"
variation 81
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:147199893"
variation 113
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:369769495"
exon 140..277
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 165
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:200141226"
misc_feature 167..169
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="upstream in-frame stop codon"
CDS 182..1633
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="isoform g is encoded by transcript variant 7;
enigma homolog; PDZ and LIM domain protein 5; enigma-like
LIM domain protein; enigma-like PDZ and LIM domains
protein"
/codon_start=1
/product="PDZ and LIM domain protein 5 isoform g"
/protein_id="NP_001243356.1"
/db_xref="GI:374093210"
/db_xref="CCDS:CCDS58917.1"
/db_xref="GeneID:10611"
/db_xref="HGNC:17468"
/db_xref="MIM:605904"
/translation="
MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQGMTHLEAQNKIKGCTGSLNMTLQRASAAPKPEPVPVQKPTVTSVCSETSQELAEGQRRGSQGDSKQQNGKIPPKRPPRKHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEADNTKKANNSQEPSPQLASSVASTRSMPESLDSPTSGRPGVTSLTTAAAFKPVGSTGVIKSPSWQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMCAHCNQVIRGPFLVALGKSWHPEEFNCAHCKNTMAYIGFVEEKGALYCELCYEKFFAPECGRCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPYCETDYYALFGTICHGCEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPL
"
misc_feature 185..187
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylserine; propagated from
UniProtKB/Swiss-Prot (Q96HC4.5); acetylation site"
misc_feature 209..427
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(218..229,233..235,377..382,389..394)
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 1130..1285
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="The first LIM domain of the Enigma Homolog (ENH)
family; Region: LIM1_ENH; cd09453"
/db_xref="CDD:188837"
misc_feature order(1130..1132,1139..1141,1190..1192,1199..1201,
1208..1210,1217..1219,1271..1273,1280..1282)
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188837"
misc_feature 1307..1462
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="LIM is a small protein-protein interaction domain,
containing two zinc fingers; Region: LIM; cl02475"
/db_xref="CDD:198684"
misc_feature order(1307..1309,1316..1318,1367..1369,1376..1378,
1385..1387,1394..1396,1448..1450,1457..1459)
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188711"
misc_feature 1484..1630
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="LIM is a small protein-protein interaction domain,
containing two zinc fingers; Region: LIM; cl02475"
/db_xref="CDD:198684"
misc_feature order(1484..1486,1493..1495,1550..1552,1559..1561,
1568..1570,1577..1579)
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188711"
variation 217
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:373896689"
variation 241
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:145981438"
variation 246
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:75841704"
exon 278..429
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 288
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:376270307"
variation 328
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:114621202"
variation 355
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="t"
/db_xref="dbSNP:368230269"
variation 359
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:146671681"
variation 366
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:151288647"
variation 426
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:372541276"
exon 430..472
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 431
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:371717002"
variation 455
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:375778697"
variation 456
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:200495769"
variation 457
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:145853286"
exon 473..564
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 538
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:1056807"
variation 541
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135006"
variation 549
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135007"
variation 564
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:1135008"
exon 565..582
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 581
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:370669920"
exon 583..755
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 588
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:375364739"
variation 608
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:201891054"
variation 609
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:141403934"
variation 638
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:150388657"
variation 671
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:202231060"
variation 687
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:113605096"
variation 691
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:115214197"
variation 694
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:11722955"
variation 709
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:11097431"
variation 739
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:371463583"
exon 756..792
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 772
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:202092014"
variation 783
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:115781887"
exon 793..980
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 813
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:146000883"
variation 814
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:139902919"
variation 828
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:1064238"
variation 832
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:377407022"
variation 842
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:141653509"
variation 843
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:115018620"
variation 853
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:116241517"
variation 876
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:371181316"
variation 905
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:966845"
variation 916
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:116830271"
variation 926
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:368387152"
variation 941
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:370892974"
variation 965
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:374739373"
exon 981..1155
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 1004
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="t"
/db_xref="dbSNP:148409775"
variation 1010
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:372735372"
variation 1013
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:7690296"
variation 1024
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="t"
/db_xref="dbSNP:375931613"
variation 1034
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:7690464"
variation 1041
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:115386065"
variation 1056
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:114201587"
variation 1100
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:369761799"
variation 1125
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:139413367"
variation 1126
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:373251894"
variation 1143
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:376503569"
exon 1156..1336
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 1193
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:201156978"
variation 1196
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:377346480"
variation 1206
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:145633341"
variation 1210
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:201013535"
variation 1211
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:200640873"
variation 1221
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:373850074"
variation 1237
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:147724105"
variation 1247
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:142522131"
exon 1337..1457
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 1343
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:144752025"
variation 1347
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:13107595"
variation 1409
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:148939806"
variation 1411
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:200822536"
exon 1458..1573
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 1469
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:114255444"
variation 1471
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:143660655"
variation 1480
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:148074454"
variation 1483
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:115802510"
variation 1494
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:374091168"
variation 1504
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:140894265"
variation 1515
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:367629922"
variation 1540
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:144847144"
variation 1542
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:114713699"
exon 1574..1631
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 1581
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:201782564"
variation 1590
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:377023412"
variation 1599
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:141719357"
exon 1632..3834
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/inference="alignment:Splign:1.39.8"
variation 1715
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:11550270"
variation 1796
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:146120619"
variation 1963
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:190760822"
variation 2030
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:140154582"
variation 2043
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048627"
variation 2119
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="t"
/db_xref="dbSNP:141563714"
variation 2131
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:1043848"
variation 2182..2185
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace=""
/replace="tttg"
/db_xref="dbSNP:148752622"
variation 2185..2188
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace=""
/replace="gttt"
/db_xref="dbSNP:371401737"
variation 2185
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace=""
/replace="tttg"
/db_xref="dbSNP:34068251"
variation 2235
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:182959183"
variation 2294
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="t"
/db_xref="dbSNP:371509832"
STS 2386..2456
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/standard_name="D4S2569E"
/db_xref="UniSTS:19561"
STS 2394..2564
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/standard_name="SHGC-24108"
/db_xref="UniSTS:4790"
variation 2433
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="t"
/db_xref="dbSNP:150914060"
variation 2456
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:376838121"
variation 2477
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:185688185"
variation 2531
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:3943"
variation 2614
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:1509617"
variation 2687..2688
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace=""
/replace="ag"
/db_xref="dbSNP:368119740"
variation 2730
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:1043853"
variation 2792
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:75854018"
variation 2905
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:13141591"
variation 2925
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:371683638"
variation 3021
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="g"
/replace="t"
/db_xref="dbSNP:1139697"
variation 3081
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:114932838"
variation 3130
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:12294"
variation 3273
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="g"
/db_xref="dbSNP:12650486"
variation 3279
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:1043862"
variation 3405
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:139417946"
variation 3464
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:149975822"
variation 3468
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="c"
/replace="t"
/db_xref="dbSNP:190144928"
variation 3481
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:369868118"
variation 3492
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="t"
/db_xref="dbSNP:115398076"
STS 3634..3728
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/standard_name="D9S1746E"
/db_xref="UniSTS:153922"
STS 3667..3796
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/standard_name="SHGC-59267"
/db_xref="UniSTS:57977"
variation 3694
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:140772832"
variation 3793
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="g"
/db_xref="dbSNP:7285"
polyA_signal 3803..3808
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
polyA_signal 3807..3812
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
variation 3811
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
/replace="a"
/replace="c"
/db_xref="dbSNP:183448943"
polyA_site 3830
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
polyA_site 3834
/gene="PDLIM5"
/gene_synonym="ENH; ENH1; L9; LIM"
ORIGIN
gtgtcctgggtcgggggtggggcgagggagagccaggaggcggaagttcccgcgggcggtggggacggcgccctcaccgcgagtcacttgtcagcccttgtctgaggcggaggcagccccgcgccgcgccggacccgagcatatttcattttctgtcattggactttgagccattagaaccatgagcaactacagtgtgtcactggttggcccagctccttggggtttccggctgcagggcggtaaggatttcaacatgcctctgacaatctctagtctaaaagatggcggcaaggcagcccaggcaaatgtaagaataggcgatgtggttctcagcattgatggaataaatgcacaaggaatgactcatcttgaagcccagaataagattaagggttgtacaggctctttgaatatgactctgcaaagagcatctgctgcacccaagcctgagccggttcctgttcaaaagcccacagtcaccagcgtgtgttccgagacttctcaggagctagcagagggacagagaagaggatcccagggtgacagtaaacagcaaaatgggaaaatcccacctaaacgcccaccaagaaaacacattgtggagcgctatacagagttttatcatgtacccactcacagtgatgccagcaagaagagactgattgaggatactgaagactggcgtccaaggactggaacaactcagtctcgctctttccgaatccttgcccagatcactgggactgaacatttgaaagaatctgaagccgataatacaaagaaggcaaataactctcaggagccttctccgcagttggcttcctcggtagcttccacacggagcatgcccgagagcctggacagcccaacctctggcagaccaggggttaccagcctcacaactgcagctgccttcaagcctgtaggatccactggcgtcatcaagtcaccaagctggcaacggccaaaccaaggagtaccttccactggaagaatctcaaacagcgctacttactcaggatcagtggcaccagccaactcagctttgggacaaacccagccaagtgaccaggacactttagtgcaaagagctgagcacattccagcagggaaacgaactccgatgtgcgcccattgtaaccaggtcatcagaggaccattcttagtggcactggggaaatcttggcacccagaagaattcaactgcgctcactgcaaaaatacaatggcctacattggatttgtagaggagaaaggagccctgtattgtgagctgtgctatgagaaattctttgcccctgaatgtggtcgatgccaaaggaagatccttggagaagtcatcagtgcgttgaaacaaacttggcatgtttcctgttttgtgtgtgtagcctgtggaaagcccattcggaacaatgtttttcacttggaggatggtgaaccctactgtgagactgattattatgccctctttggtactatatgccatggatgtgaatttcccatagaagctggtgacatgttcctggaagctctgggctacacctggcatgacacttgctttgtatgctcagtgtgttgtgaaagtttggaaggtcagacctttttctccaagaaggacaagcccctgtaatggatgaaagtccatgaacctcctaagttataatttaaatttgtttggggcaaggtgattttatagtcgagacagagccctaggtccttcctgccccatcactcacttacgacatcacttccattgtgtgcatgtttgttatagaggaggttttaggctacaatatttgtttaacctccctaagaactttcaaggcatctgtcctgaaagctgttaatttatggtctagcagatttatattatatgcagataataattaactggggataaaagaatggcaaggggtgacacaaagtagcaaactgaatacttctccaatagcaaccccaagctacctcctcaccctgcatcttggagggaggcaggaaatttcttttgaaataaagtgctggagctgaattctgcattatttatcgttgctgctgaaaccacctataaaagacttgctggctaatgtgcattgtcatataatgtacactgtcacatctttacagtcttgtatgttatagaatacaaaataagttgatggttttgtttggtgtgagctttttgtttgtttgtttagttttgccttcataggttatatgccaagatagtatttgataagtcaatgacatttggatgttttcttcaaagaattttatttgacccagatttcttataaagttatcttacattaaggatgtcattttcatcagaccttctttctacatattattcatgaagcataatgttgcatttctccaaattttatgcctgaaagggtagtgttgcttcctaaggtatcatgttgtctttgtgctttgtccatctcttccgtggcgaagctttatatctgttcctaaaacagttaatcctgtgaaataaatattgaacataatccagaagaatctctctgtttcccttggggaatgccatatttaattcaccagcagtaatcctttaataactggcagagcactttattcttctggtgagctccctgaatatttatttttctgattataaattttctatattagtagcattttttaattattacttcttcactatagagcatttacttttagtctctagatgtatattttggaatgctgtacttggcataacatagattaaaatcataatgcatgactaaaaactccttggatttatttcccattttaaaatttttagcggtaagttcagatttataatctttctctagacttccatggtctgaatgttgcctgctgaagtagcaacctaaaaagtatcccctgcttatgcttgtccagttggccctccatgtccataggcttcgcatctgtgattcagcccactgtgggtcaaaaatatttggggaaaaaaatggatggttgcgcctttgctgaacatgtacaaacttttttttgtcattaaacaatatagtataacaactatttacaaagcatttacattgtattagctattataggtaatctagagatgatttaaagtgtatggtaggatgtgcataggttatatgcaaatactacaccattttctataagggacttgaacatcatggactttagtatcctagggggttcttggaacccatcacccataggggcaccataggacaactatagtaccgtgtttatttcctattaattcaggttccgtttagagtctaaaactaaaacctaatcatttagtcacagtgtaaaaacaaatggaaataacagctcaaatcttcaaaatattactatagcattatgtttaaaataatctacaacaaaaatgtaccattttcaagcagtactacattaggagcccttttatagaaaataatttcttctttacccccgttccagtgtgaatctagtattctgttaacatttgtgtggcatttggagtttgtcatccccattgaagggagagccttctcagacatgaagcaagggaaacatactgaatagttttacacaaatttgatctggcttccatttgtccccctcatttcccaaatgtttaaatgtattggatttggattctcaatgtataagttgccttatctgttaatgtctatcttctgtctctttaattttgtatatctgctgttttgcttttggatacattttctaattagaagtcacatgataaatataatcagtatagtaataataccataatgtgcacatactcaataaataaatgactgcattgttgtaaatgag
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10611 -> Molecular function: GO:0003779 [actin binding] evidence: ISS
GeneID:10611 -> Molecular function: GO:0005080 [protein kinase C binding] evidence: ISS
GeneID:10611 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:10611 -> Molecular function: GO:0042805 [actinin binding] evidence: ISS
GeneID:10611 -> Biological process: GO:0051963 [regulation of synapse assembly] evidence: ISS
GeneID:10611 -> Biological process: GO:0061001 [regulation of dendritic spine morphogenesis] evidence: ISS
GeneID:10611 -> Cellular component: GO:0005829 [cytosol] evidence: ISS
GeneID:10611 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:10611 -> Cellular component: GO:0014069 [postsynaptic density] evidence: ISS
GeneID:10611 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: IDA
GeneID:10611 -> Cellular component: GO:0016020 [membrane] evidence: ISS
GeneID:10611 -> Cellular component: GO:0030054 [cell junction] evidence: IEA
GeneID:10611 -> Cellular component: GO:0043005 [neuron projection] evidence: IEA
GeneID:10611 -> Cellular component: GO:0045211 [postsynaptic membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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