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2019-03-23 03:40:45, 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:

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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