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  2. SH3D19 - SH3 domain containing 19 Gene

SH3D19 - SH3 domain containing 19 Gene

中文名称:含 SH3 域 19

种属: Homo sapiens

同用名: EBP; EVE1; Kryn; Eve-1; SH3P19

基因 ID: 152503 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一个包含多个 SH3 结构域的蛋白质,该蛋白质通过 SH3 结构域与其他蛋白质 (如 EBP 和 ADAM 家族成员) 相互作用。该蛋白可能参与抑制 Ras 诱导的细胞转化和 Ras 介导的 EBP 对 ELK1 的激活,以及在 EGFR 配体脱落信号中调节 ADAM 蛋白。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 8 月]

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 基因产物(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

SH3D19 蛋白结构

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)

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  • 600
  • 790 a.a.
蛋白主名 其他名称

SH3 domain-containing protein 19

ADAM-binding protein Eve-1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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