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Aliases for SH3D19 Gene

Aliases for SH3D19 Gene

  • SH3 Domain Containing 19 2 3 5
  • ADAM-Binding Protein Eve-1 3 4
  • EEN-Binding Protein 3 4
  • EBP 3 4
  • SH3 Domain-Containing Protein 19 3
  • SH3 Domain Protein D19 3
  • EEN Binding Protein 2
  • SH3P19 3
  • EVE1 3
  • Kryn 3

External Ids for SH3D19 Gene

Previous GeneCards Identifiers for SH3D19 Gene

  • GC04M152401
  • GC04M152260
  • GC04M152041
  • GC04M147766

Summaries for SH3D19 Gene

Entrez Gene Summary for SH3D19 Gene

  • 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]

GeneCards Summary for SH3D19 Gene

SH3D19 (SH3 Domain Containing 19) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. GO annotations related to this gene include proline-rich region binding. An important paralog of this gene is SORBS2.

UniProtKB/Swiss-Prot for SH3D19 Gene

  • May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3D19 Gene

Genomics for SH3D19 Gene

Regulatory Elements for SH3D19 Gene

Enhancers for SH3D19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F151206 1 ENCODE 17.3 +118.4 118360 2.0 ELF3 ZNF140 SH3D19 PRSS48 ENSG00000250350 RPS3A ENSG00000270681 GC04M151175 ENSG00000249012
GH04F151195 1.4 FANTOM5 Ensembl ENCODE 13.4 +127.9 127850 5.0 JUN FEZF1 HMG20A REST ZIC2 ZNF121 JUND POLR2A SMARCA4 FOS SH3D19 ENSG00000270681 FAM160A1 GC04M151175 ENSG00000249012
GH04F151168 0.9 FANTOM5 ENCODE 12.7 +156.2 156227 1.9 BHLHE40 SIN3A REST ZIC2 RAD21 JUND SMARCA4 POLR2A HMBOX1 FOS SH3D19 ENSG00000270681 LOC105377485 GC04M151175
GH04F151204 1.2 Ensembl ENCODE 12.5 +120.5 120472 0.9 ELF3 ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 RARA GATA4 CREM THAP11 SH3D19 GC04M151175 ENSG00000249012
GH04F151202 1.1 Ensembl ENCODE 12.5 +122.7 122650 1.2 HLF TEAD4 SH3D19 GC04M151175 ENSG00000249012
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SH3D19 on UCSC Golden Path with GeneCards custom track

Promoters for SH3D19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001251990 832 3200 MLX ARID4B FEZF1 DMAP1 YY1 FOS ZNF263 SP3 SP5 NFYC

Genomic Location for SH3D19 Gene

Chromosome:
4
Start:
151,102,751 bp from pter
End:
151,325,632 bp from pter
Size:
222,882 bases
Orientation:
Minus strand

Genomic View for SH3D19 Gene

Genes around SH3D19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3D19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3D19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3D19 Gene

Proteins for SH3D19 Gene

  • Protein details for SH3D19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5HYK7-SH319_HUMAN
    Recommended name:
    SH3 domain-containing protein 19
    Protein Accession:
    Q5HYK7
    Secondary Accessions:
    • B7Z296
    • Q08EK1
    • Q32N10
    • Q5U3B8
    • Q86XB3
    • Q8N5E7
    • Q9UFC8

    Protein attributes for SH3D19 Gene

    Size:
    790 amino acids
    Molecular mass:
    86525 Da
    Quaternary structure:
    • Interacts with ADAM12. Isoform 4 and isoform 5 (but not isoform 1 and isoform 2) interact with ADAM9, ADAM10, ADAM15 and ADAM17. Interacts with SH3GL1 SH3 domain. Interacts via SH3 3 and SH3 4 or SH3 4 and SH3 5 domains with SOS2. Probably forms a trimeric complex with SH3GL1 and SOS2. Interacts with SH3YL1 (By similarity).
    SequenceCaution:
    • Sequence=AAI08891.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI08892.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI08893.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI08894.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF83714.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI46052.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SH3D19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3D19 Gene

Post-translational modifications for SH3D19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SH3D19 Gene

Domains & Families for SH3D19 Gene

Protein Domains for SH3D19 Gene

Suggested Antigen Peptide Sequences for SH3D19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5HYK7

UniProtKB/Swiss-Prot:

SH319_HUMAN :
  • Contains 5 SH3 domains.
Domain:
  • Contains 5 SH3 domains.
genes like me logo Genes that share domains with SH3D19: view

No data available for Gene Families for SH3D19 Gene

Function for SH3D19 Gene

Molecular function for SH3D19 Gene

UniProtKB/Swiss-Prot Function:
May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization.

Gene Ontology (GO) - Molecular Function for SH3D19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SH3D19: view
genes like me logo Genes that share phenotypes with SH3D19: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SH3D19 Gene

Localization for SH3D19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3D19 Gene

Cytoplasm. Nucleus. Note=Is recruited to the nucleus by the KMT2A/MLL1-EEN fusion protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3D19 Gene COMPARTMENTS Subcellular localization image for SH3D19 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for SH3D19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 15280379
genes like me logo Genes that share ontologies with SH3D19: view

Pathways & Interactions for SH3D19 Gene

genes like me logo Genes that share pathways with SH3D19: view

Gene Ontology (GO) - Biological Process for SH3D19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0022604 regulation of cell morphogenesis IMP 21834987
GO:0051044 positive regulation of membrane protein ectodomain proteolysis IMP 15280379
genes like me logo Genes that share ontologies with SH3D19: view

No data available for SIGNOR curated interactions for SH3D19 Gene

Transcripts for SH3D19 Gene

Unigene Clusters for SH3D19 Gene

SH3 domain containing 19:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3D19 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: -
SP3:
SP4: - - - -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 20 ^ 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SH3D19 Gene

GeneLoc Exon Structure for
SH3D19
ECgene alternative splicing isoforms for
SH3D19

Expression for SH3D19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH3D19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SH3D19 Gene

This gene is overexpressed in Pancreas (28.0), Gallbladder (23.5), and Prostate (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3D19 Gene



Protein tissue co-expression partners for SH3D19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH3D19 Gene:

SH3D19

SOURCE GeneReport for Unigene cluster for SH3D19 Gene:

Hs.744983

mRNA Expression by UniProt/SwissProt for SH3D19 Gene:

Q5HYK7-SH319_HUMAN
Tissue specificity: Widely expressed with highest levels in heart, skeletal muscle, kidney, liver, placenta, small intestine and lung. Expressed at low levels in colon, thymus, spleen and leukocytes.
genes like me logo Genes that share expression patterns with SH3D19: view

Primer Products

No data available for mRNA differential expression in normal tissues for SH3D19 Gene

Orthologs for SH3D19 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SH3D19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3D19 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia SH3D19 34 35
  • 88.47 (n)
cow
(Bos Taurus)
Mammalia SH3D19 34 35
  • 85.14 (n)
mouse
(Mus musculus)
Mammalia Sh3d19 34 16 35
  • 82.97 (n)
rat
(Rattus norvegicus)
Mammalia Sh3d19 34
  • 82.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SH3D19 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3D19 34 35
  • 66.8 (n)
lizard
(Anolis carolinensis)
Reptilia SH3D19 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3d19 34
  • 60.21 (n)
zebrafish
(Danio rerio)
Actinopterygii sh3d19 34 35 35
  • 50.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(3)05822 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0303.7 35
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSB1 37
Species where no ortholog for SH3D19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SH3D19 Gene

ENSEMBL:
Gene Tree for SH3D19 (if available)
TreeFam:
Gene Tree for SH3D19 (if available)

Paralogs for SH3D19 Gene

Paralogs for SH3D19 Gene

(5) SIMAP similar genes for SH3D19 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SH3D19: view

Variants for SH3D19 Gene

Sequence variations from dbSNP and Humsavar for SH3D19 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10000557 -- 151,172,813(+) CCAGG(A/G)AAGGC intron-variant
rs10001039 -- 151,180,370(+) TAATC(A/G)GATAA intron-variant
rs10005764 -- 151,192,749(+) GACCT(C/T)TGTTC intron-variant
rs10005907 -- 151,192,721(+) ACGCT(A/G)TATTT intron-variant
rs10009307 -- 151,123,148(+) CCTGG(C/T)TGAGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SH3D19 Gene

Variant ID Type Subtype PubMed ID
dgv5436n100 CNV gain 25217958
esv1227235 CNV insertion 17803354
esv2666673 CNV deletion 23128226
esv2675418 CNV deletion 23128226
esv2763837 CNV gain+loss 21179565
esv3564791 CNV deletion 23714750
esv3602674 CNV gain 21293372
esv3602676 CNV loss 21293372
esv3602677 CNV loss 21293372
nsv1028814 CNV gain 25217958
nsv4549 CNV insertion 18451855
nsv475645 CNV novel sequence insertion 20440878
nsv526976 CNV gain 19592680
nsv595690 CNV gain 21841781
nsv964105 CNV duplication 23825009

Variation tolerance for SH3D19 Gene

Residual Variation Intolerance Score: 70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.68; 72.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3D19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3D19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3D19 Gene

Disorders for SH3D19 Gene

Relevant External Links for SH3D19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3D19

No disorders were found for SH3D19 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3D19 Gene

Publications for SH3D19 Gene

  1. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PMID: 21834987) Bai S.W. … Ridley A.J. (BMC Biol. 2011) 3 4 64
  2. 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. (PMID: 14551139) Yam J.W. … Chan L.C. (Blood 2004) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. ADAM binding protein Eve-1 is required for ectodomain shedding of epidermal growth factor receptor ligands. (PMID: 15280379) Tanaka M. … Higashiyama S. (J. Biol. Chem. 2004) 3 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64

Products for SH3D19 Gene

Sources for SH3D19 Gene

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