1. Gene
  2. SH3D19 - SH3 domain containing 19 Gene

SH3D19 - SH3 domain containing 19 Gene

Homo sapiens

Also known as EBP; EVE1; Kryn; Eve-1; SH3P19

Gene ID: 152503 | Gene type: protein coding

About SH3D19

Cytogenetic location: 4q31.3 Genomic coordinates (GRCh38): 4:151,120,281-151,325,605 (from NCBI)

This gene has 14 transcripts (splice variants), 261 orthologues and 12 paralogues. Ubiquitous expression in fat (RPKM 43.0), gall bladder (RPKM 40.6) and 23 other tissues.

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]

SH3D19 Products(14)

mRNA Protein Name
NM_001009555.4 NP_001009555.3 SH3 domain-containing protein 19 isoform 1
NM_001128923.2 NP_001122395.1 SH3 domain-containing protein 19 isoform 2
NM_001128924.2 NP_001122396.1 SH3 domain-containing protein 19 isoform 3
NM_001243349.2 NP_001230278.1 SH3 domain-containing protein 19 isoform 2
NM_001378121.1 NP_001365050.1 SH3 domain-containing protein 19 isoform 4
NM_001378122.1 NP_001365051.1 SH3 domain-containing protein 19 isoform 5
NM_001378123.1 NP_001365052.1 SH3 domain-containing protein 19 isoform 6
NM_001378124.1 NP_001365053.1 SH3 domain-containing protein 19 isoform 7
NM_001378126.1 NP_001365055.1 SH3 domain-containing protein 19 isoform 1
NM_001378127.1 NP_001365056.1 SH3 domain-containing protein 19 isoform 1
NM_001378128.1 NP_001365057.1 SH3 domain-containing protein 19 isoform 2
NM_001378129.1 NP_001365058.1 SH3 domain-containing protein 19 isoform 2
NM_001378130.1 NP_001365059.1 SH3 domain-containing protein 19 isoform 2
NM_001378131.1 NP_001365060.1 SH3 domain-containing protein 19 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables proline-rich region binding IPI
IPI: Inferred from physical interaction
15280379 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15280379 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
21834987 GOA
involved in positive regulation of membrane protein ectodomain proteolysis IMP
IMP: Inferred from mutant phenotype
15280379 GOA
involved in regulation of cell morphogenesis IMP
IMP: Inferred from mutant phenotype
21834987 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
15280379 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SH3D19 Protein Structure

SH3_2

SH3_2: Variant SH3 domain (419 - 470)

SH3_1

SH3_1: SH3 domain (501 - 546)

SH3_9

SH3_9: Variant SH3 domain (578 - 626)

SH3_1

SH3_1: SH3 domain (668 - 712)

SH3_9

SH3_9: Variant SH3 domain (737 - 785)

  • 0
  • 200
  • 400
  • 600
  • 790 a.a.
Protein Preferred Names Protein Names

SH3 domain-containing protein 19

ADAM-binding protein Eve-1

Related Diseases

Diseases Alias
Optic Atrophy 2

OPA2

Optic Atrophy, X-Linked

Optic Atrophy, Non-Leber Type, With Early Onset

Optic Atrophy 2, X-Linked

X-Linked Optic Atrophy 2

Early-Onset X-Linked Optic Atrophy

Non-Leber Type Optic Atrophy With Early-Onset

Optic Atrophy Type 2

Atrophy, Optic, Type 2

Chronic Intestinal Vascular Insufficiency

Chronic Mesenteric Ischemia

Cmi - Chronic Mesenteric Ischaemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SH3D19 MGD MGI:1350923
Canis familiaris SH3D19 VGNC VGNC:46122
Bos taurus SH3D19 VGNC VGNC:34570
Felis catus SH3D19 VGNC VGNC:65105
Rattus norvegicus SH3D19 RGD RGD:1304885
Macaca mulatta SH3D19 VGNC VGNC:77351