2024-04-25 13:34:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001190260 3304 bp mRNA linear PRI 24-JUN-2013 DEFINITION Homo sapiens germinal center-associated, signaling and motility (GCSAM), transcript variant 4, mRNA. ACCESSION NM_001190260 VERSION NM_001190260.1 GI:298231244 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 3304) AUTHORS Romero-Camarero,I., Jiang,X., Natkunam,Y., Lu,X., Vicente-Duenas,C., Gonzalez-Herrero,I., Flores,T., Garcia,J.L., McNamara,G., Kunder,C., Zhao,S., Segura,V., Fontan,L., Martinez-Climent,J.A., Garcia-Criado,F.J., Theis,J.D., Dogan,A., Campos-Sanchez,E., Green,M.R., Alizadeh,A.A., Cobaleda,C., Sanchez-Garcia,I. and Lossos,I.S. TITLE Germinal centre protein HGAL promotes lymphoid hyperplasia and amyloidosis via BCR-mediated Syk activation JOURNAL Nat Commun 4, 1338 (2013) PUBMED 23299888 REMARK GeneRIF: the germinal centre protein human germinal centre-associated lymphoma regulates B-cell receptor signalling in B-lymphocytes which, without appropriate control, may lead to B-cell lymphoproliferation. REFERENCE 2 (bases 1 to 3304) AUTHORS Gualco,G., Bacchi,L.M., Domeny-Duarte,P., Natkunam,Y. and Bacchi,C.E. TITLE The contribution of HGAL/GCET2 in immunohistological algorithms: a comparative study in 424 cases of nodal diffuse large B-cell lymphoma JOURNAL Mod. Pathol. 25 (11), 1439-1445 (2012) PUBMED 22743653 REMARK GeneRIF: HGAL/GCET2 protein expression may function as a marker for germinal center B-cell type diffuse large B-cell lymphoma. REFERENCE 3 (bases 1 to 3304) AUTHORS Cubedo,E., Maurin,M., Jiang,X., Lossos,I.S. and Wright,K.L. TITLE PRDM1/Blimp1 downregulates expression of germinal center genes LMO2 and HGAL JOURNAL FEBS J. 278 (17), 3065-3075 (2011) PUBMED 21722313 REMARK GeneRIF: Data suggest that both HGAL and LMO2 are directly regulated by the transcription repressor PRDM1--overexpression of PRDM1 down-regulates HGAL and LMO2; PRDM1 directly binds to promoters of both HGAL and LMO2 and represses genetic transcription. REFERENCE 4 (bases 1 to 3304) AUTHORS Younes,S.F., Beck,A.H., Ohgami,R.S., Lossos,I.S., Levy,R., Warnke,R.A. and Natkunam,Y. TITLE The efficacy of HGAL and LMO2 in the separation of lymphomas derived from small B cells in nodal and extranodal sites, including the bone marrow JOURNAL Am. J. Clin. Pathol. 135 (5), 697-708 (2011) PUBMED 21502424 REMARK GeneRIF: HGAL is sensitive and specific marker for detecting follicular lymphoma in nodal and extranodal sites REFERENCE 5 (bases 1 to 3304) AUTHORS Goteri,G., Lucarini,G., Zizzi,A., Costagliola,A., Giantomassi,F., Stramazzotti,D., Rubini,C. and Leoni,P. TITLE Comparison of germinal center markers CD10, BCL6 and human germinal center-associated lymphoma (HGAL) in follicular lymphomas JOURNAL Diagn Pathol 6, 97 (2011) PUBMED 21988858 REMARK GeneRIF: Immunostaining for HGAL was more frequently positive than that for BCL6 and CD10 in follicular lymphomas Publication Status: Online-Only REFERENCE 6 (bases 1 to 3304) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 REFERENCE 7 (bases 1 to 3304) AUTHORS Natkunam,Y., Lossos,I.S., Taidi,B., Zhao,S., Lu,X., Ding,F., Hammer,A.S., Marafioti,T., Byrne,G.E. Jr., Levy,S., Warnke,R.A. and Levy,R. TITLE Expression of the human germinal center-associated lymphoma (HGAL) protein, a new marker of germinal center B-cell derivation JOURNAL Blood 105 (10), 3979-3986 (2005) PUBMED 15677569 REMARK GeneRIF: The restricted expression and germinal center specificity of HGAL protein suggest that it may have an important role in the diagnosis of specific lymphomas REFERENCE 8 (bases 1 to 3304) AUTHORS Lu,X., Nechushtan,H., Ding,F., Rosado,M.F., Singal,R., Alizadeh,A.A. and Lossos,I.S. TITLE Distinct IL-4-induced gene expression, proliferation, and intracellular signaling in germinal center B-cell-like and activated B-cell-like diffuse large-cell lymphomas JOURNAL Blood 105 (7), 2924-2932 (2005) PUBMED 15591113 REFERENCE 9 (bases 1 to 3304) AUTHORS Pan,Z., Shen,Y., Du,C., Zhou,G., Rosenwald,A., Staudt,L.M., Greiner,T.C., McKeithan,T.W. and Chan,W.C. TITLE Two newly characterized germinal center B-cell-associated genes, GCET1 and GCET2, have differential expression in normal and neoplastic B cells JOURNAL Am. J. Pathol. 163 (1), 135-144 (2003) PUBMED 12819018 REMARK GeneRIF: Results report the cloning of germinal center B-cell expressed transcripts 1 and 2 (GCET1 and 2), and show that both are expressed in follicular lymphoma and diffuse large B-cell lymphoma with germinal center B-cell differentiation REFERENCE 10 (bases 1 to 3304) AUTHORS Lossos,I.S., Alizadeh,A.A., Rajapaksa,R., Tibshirani,R. and Levy,R. TITLE HGAL is a novel interleukin-4-inducible gene that strongly predicts survival in diffuse large B-cell lymphoma JOURNAL Blood 101 (2), 433-440 (2003) PUBMED 12509382 REMARK GeneRIF: gene is induced by IL4 and expression strongly predicts survival in diffuse large B-cell lymphoma GeneRIF: results report the cloning of HGAL, a germinal center its expression pattern in normal tissues and hematologic malignancies, its induction by IL4, and the prognostic significance of its expression in predicting survival in diffuse large B-cell lymphoma COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA455714.1, BP224611.1, AC128688.4 and AY212246.1. Summary: This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (4) lacks in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1. 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 :: BP224611.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-54 DA455714.1 1-54 55-442 BP224611.1 3-390 443-3216 AC128688.4 71036-73809 3217-3304 AY212246.1 3183-3270 FEATURES Location/Qualifiers source 1..3304 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q13.2" gene 1..3304 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /note="germinal center-associated, signaling and motility" /db_xref="GeneID:257144" /db_xref="HGNC:20253" /db_xref="MIM:607792" exon 1..214 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /inference="alignment:Splign:1.39.8" misc_feature 102..104 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /note="upstream in-frame stop codon" CDS 186..677 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /note="isoform 4 is encoded by transcript variant 4; germinal center B-cell-expressed transcript 2 protein; germinal center-associated lymphoma protein; human germinal center-associated lymphoma; germinal center expressed transcript 2; germinal center-associated signaling and motility protein" /codon_start=1 /product="germinal center-associated signaling and motility protein isoform 4" /protein_id="NP_001177189.1" /db_xref="GI:298231245" /db_xref="CCDS:CCDS54621.1" /db_xref="GeneID:257144" /db_xref="HGNC:20253" /db_xref="MIM:607792" /translation="
MGNSLLRENRRQQNTQEMPWNVRMQSPKQRTSRKKILIFEKRQDSQNENERMSSTPIQDNVDQTYSEELCYTLINHRVLCTRPSGNSAEEYYENVPCKAERPRESLGGTETEYSLLHMPSTDPRHARSPEDEYELLMPHRISSHFLQQPRPLMAPSETQFSHL
" exon 215..283 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /inference="alignment:Splign:1.39.8" exon 284..330 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /inference="alignment:Splign:1.39.8" variation 326 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /replace="c" /replace="t" /db_xref="dbSNP:34566009" exon 331..359 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /inference="alignment:Splign:1.39.8" exon 360..3291 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /inference="alignment:Splign:1.39.8" variation 440 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /replace="a" /replace="g" /db_xref="dbSNP:34879456" STS 1234..1386 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /standard_name="RH99175" /db_xref="UniSTS:89689" variation 1633 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /replace="a" /replace="g" /db_xref="dbSNP:1492488" variation 1676 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /replace="c" /replace="t" /db_xref="dbSNP:1492489" STS 1698..1928 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /standard_name="SHGC-58367" /db_xref="UniSTS:81277" variation 1856 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" /replace="c" /replace="t" /db_xref="dbSNP:1492490" polyA_signal 3270..3275 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" polyA_site 3291 /gene="GCSAM" /gene_synonym="GCAT2; GCET2; HGAL" ORIGIN
ctctaacactcctcccccagcctcttccttccctctgcagagacacccttctcctttctgctgtctctgcacgggtggccagagccacacagccctttctttaagtcaggagttgccctgtcagagcacaaggcaagaaggaagtggtaaagggacggaggggaagccctgagaggactgagaggatgggaaattctctgctgagagaaaacaggcggcagcagaacactcaagagatgccttggaatgtgagaatgcaaagccccaaacagagaacatccaggaaaaaaatactcatttttgaaaagaggcaagattcccaaaacgaaaatgaaagaatgtcatctactcccatccaggacaatgttgaccagacctactcagaggagctgtgctataccctcatcaatcatcgggttctctgtacaaggccatcagggaactctgctgaagagtactatgagaatgttccctgcaaagctgagagacccagagagtccttgggaggaactgagactgagtattcacttctacatatgccttctacagaccccaggcatgcccgatccccagaagatgaatatgaacttctcatgcctcacagaatctcctctcactttctgcaacagccacgtccacttatggccccttctgagactcagttttcccatttatagtgaagtggctggactagcatttgtttagcaccaacaaataaaaggtgggatgggggatctgcctgaagcagggatgggacacaaagtccctccagcttatctcccacaacaaccctttccctgcagagcatggtttgtataccacaagccctcttagcacgcaaaagccaaaatctaaagatcaaccatttatcctgaacaacaccatttgagaaagaggtaaccatctttggttctacatggtttggagagtatagtggtaggaggggctccctgattcccctaaagctatgcacaccacaaggggctctgctcttctgtctgggatcttcttataaagtgttcccatgatcattctctaaagtcacaaggaagctttactcatcatactaagtgtgcccaagggggagttcactcattactgtgaccttccagctcagtccccacccatgggagcctgtgttgctcctctcactccatgtgtctaagtcatgtcttttacatagtgtcctttgacctgttggcccccatggtctggttagttatgtgagttgaatcaagaggctctaggccagatgtttacataattttaacctatatgattttatttttaactttgtatttctccctagaaatcttaataagacaattatgccatcagacaatgttaagaagaacgatccttggagatcccgtaatcccactacccttctttggctcagagaggataatttgcctaatgatacattaaagttagtggcaaaacttaatttggagcctgatttcctactgacttccaatttagtgctcccccagtatgctaaatagaaagccctctgcaatatattaaatgtatactaaatgtatatatttaataatgtcatgtataaaatatgaataaaatgtccacataggaaattaacacatatataccttctctgataagcactcctctatgtgtcctgattatttactttctcttatcttttccttagtgttcctcaaattatatctatcctctaaaccagggatcagcaaactataacccccaggccaaatctagcccactccctgtttttatagataaagatttgttggaacacagccacactcatttgtttacctactatctatgattgttcaaccatgggagagttgagtaattgtgacatggaccataggccctaaagagccaaaataaatatactttggcactttttggaaaaaaagtttgcagacacctgccctaaatgattatagtttgagagaaacttaacagaaatgtgtttggttactgatgcataagagcaagcaccaataaaatggcataaaaatattaaatcacaaatggataagtgagaccaaggcaatttagcaaattctactatttctgtattcacacctgtgtcttccacttgctgttttatttaactcacggctactgtcctaattttagggatgctaaaatagtttgttttaaaagaggtttgtttaagaaagcagtaggtacattatgtttactagacaggcccttggaccagctaagcgacagggaacctggtacattatgtttagttactgttttcttctcaaagttaaccaaagctaaataactttcctatgtaaaatgtgctgactcccaaaagaggagaaatgcaatggcttgagcttgcatgtgtcacaggtttgtggagccttcagccaggtgatggtcttcagctaaagagccagctgcatcttggtatctcttcctctgctaacttcctacttttagcaaaattctttcacttggaactctagctgatccttggccaggatcagatcctcaaaaggaaatattcagttagcagtggatattgtacaagatgtaacatggcttagaggaaagagtgtagacccagcgacagatcatcagtcactcaaatcctggttctctctcttcctccatctgtgactttgaacatgctacttggaggctcagcttcttcaccatcaacaggaggattacatctaatgcaggcaatcatctattacagatgccgaataaatgatatcaaagagcatagagaaacaaaaatcttttatgatgtacggaaaaaaaccatgctgatacagctggctattcagggtcacccagcagtcctccagcaaggtagaaacaccaaatcaatgagtttatgctagaatttttcacatggccactggaccattgtggaagtagactggttgaaatattcttagtatgacatagtaagttatatttgtttgaaccttatcctgtgaaagcattatctgtcccaaacagtatatgccttttatcagggacacattaaatataaatgtttaaccaaagaaagttgttcttataatgtaattataacagggatttataagagggaattataagagggattatgaaagggaattacttttgagcaaggggagccatttgggagtgcttcaagatacccaatatgatatacacaattatgatttgtcagtcaaaaataatattaagaacaaaaaaagagttaaaaaattctgatatgagtgtaatatacttaatatgtaggatgtctcaaatttccagtaaataaattttaatgtcccaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:257144 -> Molecular function: GO:0003779 [actin binding] evidence: IPI GeneID:257144 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:257144 -> Molecular function: GO:0045159 [myosin II binding] evidence: IPI GeneID:257144 -> Biological process: GO:2000402 [negative regulation of lymphocyte migration] evidence: IMP GeneID:257144 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:257144 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
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