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2025-05-09 16:59:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001128924 4213 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant
3, mRNA.
ACCESSION NM_001128924
VERSION NM_001128924.1 GI:193083144
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 4213)
AUTHORS Szafranski,K., Schindler,S., Taudien,S., Hiller,M., Huse,K.,
Jahn,N., Schreiber,S., Backofen,R. and Platzer,M.
TITLE Violating the splicing rules: TG dinucleotides function as
alternative 3' splice sites in U2-dependent introns
JOURNAL Genome Biol. 8 (8), R154 (2007)
PUBMED 17672918
REMARK GeneRIF: occurrence of an unusual TG 3' splice site in intron 6
REFERENCE 2 (bases 1 to 4213)
AUTHORS Borner,G.H., Harbour,M., Hester,S., Lilley,K.S. and Robinson,M.S.
TITLE Comparative proteomics of clathrin-coated vesicles
JOURNAL J. Cell Biol. 175 (4), 571-578 (2006)
PUBMED 17116749
REFERENCE 3 (bases 1 to 4213)
AUTHORS Nguyen,T.T., Ma,L.N., Slovak,M.L., Bangs,C.D., Cherry,A.M. and
Arber,D.A.
TITLE Identification of novel Runx1 (AML1) translocation partner genes
SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemia
JOURNAL Genes Chromosomes Cancer 45 (10), 918-932 (2006)
PUBMED 16858696
REFERENCE 4 (bases 1 to 4213)
AUTHORS Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
Kim,N.S.
TITLE Transcriptome analysis of human gastric cancer
JOURNAL Mamm. Genome 16 (12), 942-954 (2005)
PUBMED 16341674
REFERENCE 5 (bases 1 to 4213)
AUTHORS Tanaka,M., Nanba,D., Mori,S., Shiba,F., Ishiguro,H., Yoshino,K.,
Matsuura,N. and Higashiyama,S.
TITLE ADAM binding protein Eve-1 is required for ectodomain shedding of
epidermal growth factor receptor ligands
JOURNAL J. Biol. Chem. 279 (40), 41950-41959 (2004)
PUBMED 15280379
REMARK GeneRIF: yeast two-hybrid screening using the cytoplasmic domain of
ADAM12 as bait identified a protein designated Eve-1. Eve-1 plays a
role in positively regulating the activity of ADAMs in the
signaling of EGFR-ligand shedding.
REFERENCE 6 (bases 1 to 4213)
AUTHORS Yam,J.W., Jin,D.Y., So,C.W. and Chan,L.C.
TITLE Identification and characterization of EBP, a novel EEN binding
protein that inhibits Ras signaling and is recruited into the
nucleus by the MLL-EEN fusion protein
JOURNAL Blood 103 (4), 1445-1453 (2004)
PUBMED 14551139
REMARK GeneRIF: identified and characterized EBP, a novel EEN binding
protein that interacts with the SH3 domain of EEN; normally
expressed in cytoplasm but recruited to the nucleus by MLL-EEN
[EBP]
REFERENCE 7 (bases 1 to 4213)
AUTHORS Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
Bouffard,G., Smith,D. and Peterson,K.
TITLE Expressed sequence tag analysis of adult human lens for the NEIBank
Project: over 2000 non-redundant transcripts, novel genes and
splice variants
JOURNAL Mol. Vis. 8, 171-184 (2002)
PUBMED 12107413
REMARK Publication Status: Online-Only
REFERENCE 8 (bases 1 to 4213)
AUTHORS Kirchhausen,T.
TITLE Three ways to make a vesicle
JOURNAL Nat. Rev. Mol. Cell Biol. 1 (3), 187-198 (2000)
PUBMED 11252894
REMARK Review article
Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE 9 (bases 1 to 4213)
AUTHORS Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
TITLE Secretory protein trafficking and organelle dynamics in living
cells
JOURNAL Annu. Rev. Cell Dev. Biol. 16, 557-589 (2000)
PUBMED 11031247
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC108893.1, BC032404.1,
CD675494.1, BM831166.1, AW263019.1 and BM670337.1.
Summary: This gene encodes a multiple SH3 domain-containing
protein, which interacts with other proteins, such as EBP and
members of ADAM family, via the SH3 domains. This protein may be
involved in suppression of Ras-induced cellular transformation and
Ras-mediated activation of ELK1 by EBP, and regulation of ADAM
proteins in the signaling of EGFR-ligand shedding. Alternatively
spliced transcript variants encoding different isoforms have been
found for this gene. [provided by RefSeq, Aug 2011].
Transcript Variant: This variant (3) lacks an in-frame coding exon
in the 5' region compared to variant 1. This results in a shorter
isoform (3) missing an internal protein segment compared to isoform
1.
##Evidence-Data-START##
Transcript exon combination :: BC108893.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025098 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2656 BC108893.1 1-2656
2657-3036 BC032404.1 3515-3894
3037-3481 CD675494.1 173-617
3482-4045 BM831166.1 92-655
4046-4192 AW263019.1 17-163 c
4193-4213 BM670337.1 1-21 c
FEATURES Location/Qualifiers
source 1..4213
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q31.3"
gene 1..4213
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="SH3 domain containing 19"
/db_xref="GeneID:152503"
/db_xref="HGNC:30418"
/db_xref="MIM:608674"
exon 1..883
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
CDS 190..2385
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="isoform 3 is encoded by transcript variant 3; SH3
domain-containing protein 19; SH3 domain protein D19;
EEN-binding protein; ADAM-binding protein Eve-1"
/codon_start=1
/product="SH3 domain-containing protein 19 isoform 3"
/protein_id="NP_001122396.1"
/db_xref="GI:193083145"
/db_xref="CCDS:CCDS47143.1"
/db_xref="GeneID:152503"
/db_xref="HGNC:30418"
/db_xref="MIM:608674"
/translation="
MNIMNTEQSQNSIVSRIKVFEGQTNIETSGLPKKPEITPRSLPPKPTVSSGKPSVAPKPAANRASGEWDSGTENRLKVTSKEGLTPYPPLQEAGSIPVTKPELPKKPNPGLIRSVNPEIPGRGPLAESSDSGKKVPTPAPRPLLLKKSVSSENPTYPSAPLKPVTVPPRLAGASQAKAYKSLGEGPPANPPVPVLQSKPLVDIDLISFDDDVLPTPSGNLAEESVGSEMVLGLHEDPQSPPPLPAEKPIGNTFSTVSGKLSNVERTRNLESNHPGQTGGFVRVPPRLPPRPVNGKTIPTQQPPTKVPPERPPPPKLSATRRSNKKLPFNRSSSDMDLQKKQSNLATGLSKAKSQVFKNQDPVLPPRPKPGHPLYSKYMRGDVLVMLKQTENNYLECQKGEDTGRVHLSQMKIITPLDEHLRSRPNDPSHAQKPVDSGAPHAVVLHDFPAEQVDDLNLTSGEIVYLLEKIDTDWYRGNCRNQIGIFPANYVKVIIDIPEGGNGKRECVSSHCVKGSRCVARFEYIGEQKDELSFSEGEIIILKEYVNEEWARGEVRGRTGIFPLNFVEPVEDYPTSGANVLSTKVPLKTKKEDSGSNSQVNSLPAEWCEALHSFTAETSDDLSFKRGDRIQILERLDSDWCRGRLQDREGIFPAVFVRPCPAEAKSMLAIVPKGRKAKALYDFRGENEDELSFKAGDIITELESVDDDWMSGELMGKSGIFPKNYIQFLQIS
"
misc_feature <1324..1416
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="Src Homology 3 domain superfamily; Region: SH3;
cl17036"
/db_xref="CDD:213143"
misc_feature order(1363..1368,1405..1407,1411..1416)
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212690"
misc_feature 1507..1662
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="Second Src homology 3 domain of ADAM-binding
protein Eve-1; Region: SH3_Eve1_2; cd11815"
/db_xref="CDD:212749"
misc_feature order(1522..1524,1528..1530,1537..1539,1549..1551,
1603..1608,1645..1647,1651..1656)
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212749"
misc_feature 1735..1887
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="Third Src homology 3 domain of ADAM-binding protein
Eve-1; Region: SH3_Eve1_3; cd11816"
/db_xref="CDD:212750"
misc_feature order(1750..1752,1756..1758,1765..1767,1777..1779,
1831..1836,1873..1875,1879..1884)
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212750"
misc_feature 2005..2154
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="Fourth Src homology 3 domain of ADAM-binding
protein Eve-1; Region: SH3_Eve1_4; cd11817"
/db_xref="CDD:212751"
misc_feature order(2020..2022,2026..2028,2035..2037,2047..2049,
2101..2106,2143..2145,2149..2154)
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212751"
misc_feature 2212..2361
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="Fifth Src homology 3 domain of ADAM-binding protein
Eve-1; Region: SH3_Eve1_5; cd11818"
/db_xref="CDD:212752"
misc_feature order(2227..2229,2233..2235,2242..2244,2254..2256,
2308..2313,2350..2352,2356..2361)
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212752"
exon 884..996
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 997..1058
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1059..1323
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1324..1464
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1465..1537
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1538..1668
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1669..1727
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1728..1930
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1931..1983
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 1984..2170
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 2171..2268
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
exon 2269..4195
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/inference="alignment:Splign:1.39.8"
STS 2930..3083
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/standard_name="SHGC-31182"
/db_xref="UniSTS:74763"
variation 2945
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/replace="a"
/replace="t"
/db_xref="dbSNP:1046126"
variation 2965
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/replace="a"
/replace="t"
/db_xref="dbSNP:1046133"
STS 3913..4039
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/standard_name="A009Z47"
/db_xref="UniSTS:4599"
STS 3913..4039
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/standard_name="G33033"
/db_xref="UniSTS:117610"
variation 4126
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
/replace="c"
/replace="g"
/db_xref="dbSNP:1046168"
polyA_signal 4169..4174
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
polyA_site 4195
/gene="SH3D19"
/gene_synonym="EBP; EVE1; Kryn; SH3P19"
ORIGIN
cccagtgctacaagatgtccagtgccaaaaccaagatcaaaaagcaacctcagaccaatacccagagattctcacattaaagagcaaagtcaacagaaaatcagcccagcagccgtaggagaggagtcatccccaggccggccccagtctctgctggacaacgctagcacctcagacagtcaggcagtgatgaacattatgaacacagaacaaagccaaaatagtattgtttccagaattaaagtgtttgagggtcagacaaacatagaaacctcaggactgcccaagaaaccagaaattactccacgttcacttcctccaaagcctactgtttcctcagggaaaccttctgtagctcccaaaccagctgctaacagagcttctggagagtgggactctgggactgagaacagactcaaggtgacctccaaggaaggactcaccccataccctcccctgcaagaagcgggaagcatcccagtaaccaaacctgaattgccaaagaaaccaaaccctggccttatacgaagtgttaatcctgagattccgggaagagggcccctggctgagagctctgatagtgggaagaaagtgccaactcctgccccgcggcctttgctgctgaagaaatctgtttcctcagaaaaccccacctacccttcagctccactgaaacctgtcactgttcctccccgactcgcaggggcatcacaagccaaagcatacaagtcactgggagaagggcccccagccaaccccccagttccagttctgcagagcaagcccttggtggacatcgatctcatcagctttgatgatgatgttttgcccaccccatcggggaacctggctgaagaatctgttggttcagagatggttctaggtttacatgaggatccacaaagtccacctcctctccctgctgaaaaacctattggaaacactttcagtacagtatctggaaagctcagtaatgttgagagaactagaaacttggaatccaaccacccaggtcaaacaggaggttttgtgcgagtacccccaaggttgccaccgagacctgtgaatggaaaaaccattccaactcaacagcctccaaccaaggtgccccctgagagaccacctcccccaaagctttctgcaaccagaagatctaataagaaactgccttttaatcgatcctcttctgacatggatcttcagaaaaaacaaagtaacttggcaactggactctcaaaagccaagagtcaagtttttaaaaatcaagatccggtgctaccccctcgtcccaaaccaggacaccctctctacagtaaatacatgcgtggggatgtacttgtgatgctgaagcagacggaaaataattacttggagtgccaaaagggagaagacactggcagagttcacctgtctcaaatgaagattatcactccacttgatgaacatcttagaagcagaccaaacgatccaagccacgctcagaagcctgttgacagtggtgctcctcatgctgtcgttcttcatgatttcccagcagagcaagttgatgatttgaacctcacttctggagaaattgtttatcttctggagaagatagatacagattggtacagagggaactgtagaaaccagattggcatatttcctgccaactatgtcaaagtgattattgatatcccagaaggaggaaatgggaaaagagaatgtgtttcatctcattgtgttaaaggctcaagatgtgttgctcggtttgaatatattggagagcagaaggatgagttgagtttctcagagggagaaattattattcttaaagagtatgtgaatgaggaatgggccagaggagaagttcgaggcagaactgggattttccccctgaactttgtggagcctgttgaggattatcccacctctggtgcaaatgttttaagcacaaaggtaccactgaaaaccaaaaaagaagattctggctcaaactctcaggttaacagtcttccggcagaatggtgtgaagctcttcacagttttacagcagagaccagtgatgacttatcattcaagaggggagaccggatccagattctggaacgtctggattctgactggtgcaggggcagactgcaggacagggaggggatcttcccagcagtgtttgtgaggccctgcccagctgaggcaaaaagtatgttggccatagtaccgaaggggaggaaggccaaagccttatatgatttccgaggggagaatgaagatgaactttccttcaaggctggagatataataacagagctggaatctgtagatgatgactggatgagtggagaacttatgggaaaatctggaatatttcccaaaaactacatacagtttctacagatcagctagaggagaagcttgtctgtgttccttggcacaagaactcacttgaactatcaccttgactatcagatatgtttttgcactattttttttaactgaaaaagaaatatctaagctgtacatggtacactagaattttctgaaagcagaaaacgttcagattttgtagttaattttcattacaatagaaacatgcacatggaaacccatgagctaggattctaccgaggaaaacatctagtgggattagcaaggtgaagggaaagcatctggtggcatggcagcatggggaggctcacacacagaagttgcacgtggacatctgttttaatcagcacaagtgaattaaccatgcttcttcatttttttactttagttaaaaaagaggacatttaatattctacatgctgtaactatcaggacatggttagcaatctcaatttcatttttgatattcaaattaattcttacagcttgagcatatcagccttattaccagagcaaatccttccttcagatgggatagtttactgactagttggagcatttgtaagcacatggtgaaatcagcccctgcccaccaaaataatctttatgttaccaagtgattcccatttgtctaaggatttgaagggggtctaaattggatgtatcttacttagtctaaagaaccaaaaccatccctgaaatgccttgctaatacaactaatccttccatatatgtgccatacttatttttttcctcagtgtatactttatgttaacagggttattacaaagcacattttctgaatctgcaatcattcctttgacaattactggacccaaaggaaaattcattttctttgcattattccagtaatatataaaaactgtgtcttgttatagtagtacattatgaatcacatataaaatcttacaatacagaacaactgttaagatggaaaacagtgccaaacctccacagctcatttctttgtaatataatcagaatgaaaaataatttaagaggacagaagactggtacttttttgttttattttttctctagcttatccctgcacaattattagagtgaatgaaaaaccactttcctgctttccattgttataaattctaagcttaagataaaagtggttctttacatgactgaatcaattacaatttatgggctagagccaaataggttgaagacaatcatccaaacagatcaatggaatagaatttcattggaaatgtaaaacactttcccaacaatggtcatgactttcttctgtttttgagaagagtttcatatgctggaccacattttagcttttattgttttttttttcccattgtccaaaaagttaagcaacaagtggccacacttttacgtgactacaacctggagttctgcaaagaaggtaatatttacttggtctttgactaaagttatctccccattctatggttacattttattttggactatggggacttctaatacgttttggtaaagaagagagtataaagaaaattcttgtcaaatttcactcaaaagtaatttcatgagaaatcaatgatttaaagcattatccaaattaaattatcatttgcagcaaactgtacaacagcaggaaggatatggaatggaacatgaggtatatatctttgcctttataattttaacatcttatattgaagattctgaaaacctatctttattagaggaaaatctcaatcttcagttttggccttctgtcagcagaatgataagtgcaatagttgtaaatctacttgacactgtaataaactgaactgaactttcaaagtcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:152503 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:152503 -> Molecular function: GO:0070064 [proline-rich region binding] evidence: IPI
GeneID:152503 -> Biological process: GO:0006892 [post-Golgi vesicle-mediated transport] evidence: TAS
GeneID:152503 -> Biological process: GO:0007010 [cytoskeleton organization] evidence: IMP
GeneID:152503 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:152503 -> Biological process: GO:0022604 [regulation of cell morphogenesis] evidence: IMP
GeneID:152503 -> Biological process: GO:0051044 [positive regulation of membrane protein ectodomain proteolysis] evidence: IMP
GeneID:152503 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:152503 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:152503 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA
GeneID:152503 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:152503 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
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