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2024-04-16 17:40:24, 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
//
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
by
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