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2025-05-09 18:26:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004811 1926 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.
ACCESSION NM_004811
VERSION NM_004811.2 GI:221316657
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 1926)
AUTHORS Vijai,J., Kirchhoff,T., Schrader,K.A., Brown,J., Dutra-Clarke,A.V.,
Manschreck,C., Hansen,N., Rau-Murthy,R., Sarrel,K., Przybylo,J.,
Shah,S., Cheguri,S., Stadler,Z., Zhang,L., Paltiel,O.,
Ben-Yehuda,D., Viale,A., Portlock,C., Straus,D., Lipkin,S.M.,
Lacher,M., Robson,M., Klein,R.J., Zelenetz,A. and Offit,K.
TITLE Susceptibility loci associated with specific and shared subtypes of
lymphoid malignancies
JOURNAL PLoS Genet. 9 (1), E1003220 (2013)
PUBMED 23349640
REFERENCE 2 (bases 1 to 1926)
AUTHORS Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
Vermeire,S., Barrett,J.C. and Cho,J.H.
CONSRTM International IBD Genetics Consortium (IIBDGC)
TITLE Host-microbe interactions have shaped the genetic architecture of
inflammatory bowel disease
JOURNAL Nature 491 (7422), 119-124 (2012)
PUBMED 23128233
REFERENCE 3 (bases 1 to 1926)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 4 (bases 1 to 1926)
AUTHORS Chen,P.W. and Kroog,G.S.
TITLE Leupaxin is similar to paxillin in focal adhesion targeting and
tyrosine phosphorylation but has distinct roles in cell adhesion
and spreading
JOURNAL Cell Adh Migr 4 (4), 527-540 (2010)
PUBMED 20543562
REMARK GeneRIF: first evidence of dynamic regulation of leupaxin
localization and tyrosine phosphorylation by G-Protein Coupled
Receptors
REFERENCE 5 (bases 1 to 1926)
AUTHORS Tanaka,T., Moriwaki,K., Murata,S. and Miyasaka,M.
TITLE LIM domain-containing adaptor, leupaxin, localizes in focal
adhesion and suppresses the integrin-induced tyrosine
phosphorylation of paxillin
JOURNAL Cancer Sci. 101 (2), 363-368 (2010)
PUBMED 19917054
REMARK GeneRIF: leupaxin functions as a paxillin counterpart that potently
suppresses the tyrosine phosphorylation of paxillin during integrin
signaling.
REFERENCE 6 (bases 1 to 1926)
AUTHORS Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
TITLE Immunoaffinity profiling of tyrosine phosphorylation in cancer
cells
JOURNAL Nat. Biotechnol. 23 (1), 94-101 (2005)
PUBMED 15592455
REFERENCE 7 (bases 1 to 1926)
AUTHORS Brill,L.M., Salomon,A.R., Ficarro,S.B., Mukherji,M.,
Stettler-Gill,M. and Peters,E.C.
TITLE Robust phosphoproteomic profiling of tyrosine phosphorylation sites
from human T cells using immobilized metal affinity chromatography
and tandem mass spectrometry
JOURNAL Anal. Chem. 76 (10), 2763-2772 (2004)
PUBMED 15144186
REFERENCE 8 (bases 1 to 1926)
AUTHORS Gupta,A., Lee,B.S., Khadeer,M.A., Tang,Z., Chellaiah,M.,
Abu-Amer,Y., Goldknopf,J. and Hruska,K.A.
TITLE Leupaxin is a critical adaptor protein in the adhesion zone of the
osteoclast
JOURNAL J. Bone Miner. Res. 18 (4), 669-685 (2003)
PUBMED 12674328
REMARK GeneRIF: leupaxin may be a critical nucleating component of the
osteoclast podosomal signaling complex
REFERENCE 9 (bases 1 to 1926)
AUTHORS Liu,S., Thomas,S.M., Woodside,D.G., Rose,D.M., Kiosses,W.B.,
Pfaff,M. and Ginsberg,M.H.
TITLE Binding of paxillin to alpha4 integrins modifies integrin-dependent
biological responses
JOURNAL Nature 402 (6762), 676-681 (1999)
PUBMED 10604475
REFERENCE 10 (bases 1 to 1926)
AUTHORS Lipsky,B.P., Beals,C.R. and Staunton,D.E.
TITLE Leupaxin is a novel LIM domain protein that forms a complex with
PYK2
JOURNAL J. Biol. Chem. 273 (19), 11709-11713 (1998)
PUBMED 9565592
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP261314.1 and AF062075.1.
On Jan 24, 2009 this sequence version replaced gi:4758669.
Summary: The product encoded by this gene is preferentially
expressed in hematopoietic cells and belongs to the paxillin
protein family. Similar to other members of this
focal-adhesion-associated adaptor-protein family, it has four
leucine-rich LD-motifs in the N-terminus and four LIM domains in
the C-terminus. It may function in cell type-specific signaling by
associating with PYK2, a member of focal adhesion kinase family. As
a substrate for a tyrosine kinase in lymphoid cells, this protein
may also function in, and be regulated by, tyrosine kinase
activity. Alternative splicing results in multiple transcript
variants encoding distinct isoforms.[provided by RefSeq, Jan 2009].
Transcript Variant: This variant (2) has a different first exon at
the 5' end, compared to variant 1. This difference results in a
unique 5' UTR and 5' coding region and an isoform (2) with a
shorter N-terminus, compared to isoform 1.
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 :: AF062075.1, BC019035.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-56 BP261314.1 1-56
57-1721 AF062075.1 5-1669
1722-1926 AF062075.1 1671-1875
FEATURES Location/Qualifiers
source 1..1926
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q12.1"
gene 1..1926
/gene="LPXN"
/gene_synonym="LDPL"
/note="leupaxin"
/db_xref="GeneID:9404"
/db_xref="HGNC:14061"
/db_xref="HPRD:05651"
/db_xref="MIM:605390"
exon 1..158
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
misc_feature 35..37
/gene="LPXN"
/gene_synonym="LDPL"
/note="upstream in-frame stop codon"
CDS 146..1306
/gene="LPXN"
/gene_synonym="LDPL"
/note="isoform 2 is encoded by transcript variant 2"
/codon_start=1
/product="leupaxin isoform 2"
/protein_id="NP_004802.1"
/db_xref="GI:4758670"
/db_xref="CCDS:CCDS7969.1"
/db_xref="GeneID:9404"
/db_xref="HGNC:14061"
/db_xref="HPRD:05651"
/db_xref="MIM:605390"
/translation="
MEELDALLEELERSTLQDSDEYSNPAPLPLDQHSRKETNLDETSEILSIQDNTSPLPAQLVYTTNIQELNVYSEAQEPKESPPPSKTSAAAQLDELMAHLTEMQAKVAVRADAGKKHLPDKQDHKASLDSMLGGLEQELQDLGIATVPKGHCASCQKPIAGKVIHALGQSWHPEHFVCTHCKEEIGSSPFFERSGLAYCPNDYHQLFSPRCAYCAAPILDKVLTAMNQTWHPEHFFCSHCGEVFGAEGFHEKDKKPYCRKDFLAMFSPKCGGCNRPVLENYLSAMDTVWHPECFVCGDCFTSFSTGSFFELDGRPFCELHYHHRRGTLCHGCGQPITGRCISAMGYKFHPEHFVCAFCLTQLSKGIFREQNDKTYCQPCFNKLFPL
"
misc_feature 152..190
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O60711.1);
Region: LD motif 1"
misc_feature 200..202
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O60711.1); phosphorylation site"
misc_feature 200..202
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[7]
misc_feature 209..211
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (O60711.1); phosphorylation site"
misc_feature 209..211
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[7]
misc_feature 329..331
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (O60711.1); phosphorylation site"
misc_feature 353..391
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O60711.1);
Region: LD motif 2"
misc_feature 359..361
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine, by LYN; propagated from
UniProtKB/Swiss-Prot (O60711.1); phosphorylation site"
misc_feature 419..454
/gene="LPXN"
/gene_synonym="LDPL"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O60711.1);
Region: LD motif 3"
misc_feature 593..757
/gene="LPXN"
/gene_synonym="LDPL"
/note="The first LIM domain of Leupaxin; Region:
LIM1_Leupaxin; cd09406"
/db_xref="CDD:188790"
misc_feature order(599..601,608..610,659..661,668..670,677..679,
686..688,740..742,749..751)
/gene="LPXN"
/gene_synonym="LDPL"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188790"
misc_feature 776..931
/gene="LPXN"
/gene_synonym="LDPL"
/note="The second LIM domain of Leupaxin; Region:
LIM2_Leupaxin; cd09408"
/db_xref="CDD:188792"
misc_feature order(776..778,785..787,836..838,845..847,854..856,
863..865,917..919,926..928)
/gene="LPXN"
/gene_synonym="LDPL"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188792"
misc_feature 953..1111
/gene="LPXN"
/gene_synonym="LDPL"
/note="The third LIM domain of Leupaxin; Region:
LIM3_Leupaxin; cd09410"
/db_xref="CDD:188794"
misc_feature order(953..955,962..964,1013..1015,1022..1024,1031..1033,
1040..1042,1094..1096,1103..1105)
/gene="LPXN"
/gene_synonym="LDPL"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188794"
misc_feature 1130..1285
/gene="LPXN"
/gene_synonym="LDPL"
/note="The fourth LIM domain of the Paxillin-like protein
family; Region: LIM4_Paxillin_like; cd09339"
/db_xref="CDD:188725"
misc_feature order(1130..1132,1139..1141,1190..1192,1199..1201,
1208..1210,1217..1219,1271..1273,1280..1282)
/gene="LPXN"
/gene_synonym="LDPL"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:188725"
exon 159..316
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
exon 317..363
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
exon 364..463
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
STS 410..1168
/gene="LPXN"
/gene_synonym="LDPL"
/standard_name="Lpxn"
/db_xref="UniSTS:536531"
exon 464..631
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
variation 550
/gene="LPXN"
/gene_synonym="LDPL"
/replace="c"
/replace="g"
/db_xref="dbSNP:1047979"
exon 632..805
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
variation 652
/gene="LPXN"
/gene_synonym="LDPL"
/replace="a"
/replace="g"
/db_xref="dbSNP:1802347"
exon 806..887
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
exon 888..1036
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
variation 904
/gene="LPXN"
/gene_synonym="LDPL"
/replace="a"
/replace="c"
/db_xref="dbSNP:200930172"
exon 1037..1889
/gene="LPXN"
/gene_synonym="LDPL"
/inference="alignment:Splign:1.39.8"
STS 1042..1850
/gene="LPXN"
/gene_synonym="LDPL"
/standard_name="LPXN_8932"
/db_xref="UniSTS:467749"
STS 1647..1885
/gene="LPXN"
/gene_synonym="LDPL"
/standard_name="STS-W46419"
/db_xref="UniSTS:69333"
variation 1702
/gene="LPXN"
/gene_synonym="LDPL"
/replace="c"
/replace="t"
/db_xref="dbSNP:11543064"
polyA_signal 1864..1869
/gene="LPXN"
/gene_synonym="LDPL"
polyA_site 1889
/gene="LPXN"
/gene_synonym="LDPL"
ORIGIN
agtgctaagcaaatacaggaaccaaaaaggtttatagaggctgccttatgctgtctcatccagttcctttgcggtcctcttcttcagcacatgccaaagctgttcctcacggcctgtgagacaagagcatcttggatgtaggacaatggaagagttagatgccttattggaggaactggaacgctccacccttcaggacagtgatgaatattccaacccagctcctcttcccctggatcagcattccagaaaggagactaaccttgatgagacttcggagatcctttctattcaggataacacaagtcccttgccggcgcagctcgtgtatactaccaatatccaggagctcaatgtctacagtgaagcccaagagccaaaggaatcaccaccaccttctaaaacgtcagcagctgctcagttggatgagctcatggctcacctgactgagatgcaggccaaggttgcagtgagagcagatgctggcaagaagcacttaccagacaagcaggatcacaaggcctccctggactcaatgcttgggggtctggagcaggaattgcaggaccttggcattgccacagtgcccaagggccattgtgcatcctgccagaaaccgattgctgggaaggtgatccatgctctagggcaatcatggcatcctgagcattttgtctgtactcattgcaaagaagagattggctccagtcccttctttgagcggagtggcttggcctactgccccaacgactaccaccaacttttttctccacgctgtgcttactgcgctgctcccatcctggataaagtgctgacagcaatgaaccagacctggcacccagagcacttcttctgctctcactgcggagaggtgtttggtgcagaaggctttcatgagaaggacaagaagccatattgccgaaaggatttcttagccatgttctcacccaagtgtggtggctgcaatcgcccagtgttggaaaactacctttcagccatggacactgtctggcacccagagtgctttgtttgtggggactgcttcaccagtttttctactggctccttctttgaactggatggacgtccattctgtgagctccattaccatcaccgccggggaacgctctgccatgggtgtgggcagcccatcactggccgttgtatcagtgccatggggtacaagttccatcctgagcactttgtgtgtgctttctgcctgacacagttgtcgaagggcattttcagggagcagaatgacaagacctattgtcaaccttgcttcaataagctcttcccactgtaatgccaactgatccatagcctcttcagattccttataaaatttaaaccaagagaggagaggaaagggtaaattttctgttactgaccttctgcttaatagtcttatagaaaaaggaaaggtgatgagcaaataaaggaacttctagactttacatgactaggctgataatcttattttttaggcttctatacagttaattctataaattctctttctccctctcttctccaatcaagcacttggagttagatctaggtccttctatctcgtccctctacagatgtattttccacttgcataattcatgccaacactggttttcttaggtttctccattttcacctctagtgatggccctactcatatcttctctaatttggtcctgatacttgtttcttttcacgttttcccatttccctgtggctcactgtcttacaatcactgctgtggaatcatgataccacttttagctctttgcatcttccttcagtgtatttttgtttttcaagaggaagtagattttaactggacaactttgagtactgacatcattgataaataaactggcttgtggtttcaataaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9404 -> Molecular function: GO:0003712 [transcription cofactor activity] evidence: IDA
GeneID:9404 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:9404 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:9404 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:9404 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:9404 -> Biological process: GO:0006461 [protein complex assembly] evidence: TAS
GeneID:9404 -> Biological process: GO:0007155 [cell adhesion] evidence: IEA
GeneID:9404 -> Biological process: GO:0007162 [negative regulation of cell adhesion] evidence: IDA
GeneID:9404 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:9404 -> Biological process: GO:0033628 [regulation of cell adhesion mediated by integrin] evidence: IEA
GeneID:9404 -> Biological process: GO:0050859 [negative regulation of B cell receptor signaling pathway] evidence: IDA
GeneID:9404 -> Cellular component: GO:0002102 [podosome] evidence: IDA
GeneID:9404 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:9404 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:9404 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:9404 -> Cellular component: GO:0005925 [focal adhesion] evidence: IDA
GeneID:9404 -> Cellular component: GO:0042995 [cell projection] evidence: IEA
GeneID:9404 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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