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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 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 Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include proline-rich region binding. An important paralog of this gene is SORBS3.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SH3D19 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SH3D19 Gene at MOPED

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.
genes like me logo Genes that share phenotypes with SH3D19: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 --
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:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with SH3D19: view

No data available for SIGNOR curated interactions for SH3D19 Gene

Drugs & Compounds for SH3D19 Gene

No Compound Related Data Available

Transcripts for SH3D19 Gene

Unigene Clusters for SH3D19 Gene

SH3 domain containing 19:
Representative Sequences:

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 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, MOPED, and MaxQB for SH3D19 Gene



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

Protein tissue co-expression partners for SH3D19 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia SH3D19 35
  • 85.14 (n)
  • 81.4 (a)
SH3D19 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3D19 35
  • 88.47 (n)
  • 84.66 (a)
SH3D19 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3d19 35
  • 82.97 (n)
  • 78.45 (a)
Sh3d19 16
Sh3d19 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SH3D19 35
  • 99.32 (n)
  • 98.63 (a)
SH3D19 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3d19 35
  • 82.38 (n)
  • 77.82 (a)
oppossum
(Monodelphis domestica)
Mammalia SH3D19 36
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 51 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves SH3D19 35
  • 66.8 (n)
  • 59.07 (a)
SH3D19 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3D19 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3d19 35
  • 60.21 (n)
  • 52.2 (a)
zebrafish
(Danio rerio)
Actinopterygii sh3d19 35
  • 50.55 (n)
  • 40.73 (a)
sh3d19 36
  • 25 (a)
OneToMany
sh3d19 36
  • 25 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta l(3)05822 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0303.7 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSB1 38
Species with no ortholog for SH3D19:
  • 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
rs10964 -- 151,141,869(+) AACCA(A/G)TCCTT intron-variant
rs938990 -- 151,200,184(-) atact(A/C/G)tagac intron-variant
rs1046126 -- 151,121,531(-) GTGAA(A/T)TCAGC utr-variant-3-prime
rs1046133 -- 151,121,511(-) CCAAA(A/T)TAATC utr-variant-3-prime
rs1046168 -- 151,120,350(-) TGTCA(C/G)CAGAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv526976 CNV Gain 19592680
nsv880262 CNV Gain 21882294
nsv881526 CNV Gain 21882294
esv2675418 CNV Deletion 23128226
nsv4549 CNV Insertion 18451855
esv2666673 CNV Deletion 23128226
esv1227235 CNV Insertion 17803354

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 67
  2. 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
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for SH3D19 Gene

Sources for SH3D19 Gene

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