1. Gene
  2. FCHSD1 - FCH and double SH3 domains 1 Gene

FCHSD1 - FCH and double SH3 domains 1 Gene

中文名称:FCH 和双 SH3 域 1

种属: Homo sapiens

同用名: NWK2

基因 ID: 89848 | 基因类型: protein coding

关于 FCHSD1

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,639,302-141,651,418 (from NCBI)

This gene has 10 transcripts (splice variants), 176 orthologues and 1 paralogue. Ubiquitous expression in skin (RPKM 9.3), lymph node (RPKM 8.7) and 24 other tissues.

功能概要

预测可实现脂质结合活性。预计参与神经肌肉突触传递和肌动蛋白丝聚合的正调控。预测位于细胞投影和核周。预计在神经肌肉接头和再循环核内体中具有活性。预测与表皮板共定位。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable lipid binding activity. Predicted to be involved in neuromuscular synaptic transmission and positive regulation of actin filament polymerization. Predicted to be located in cell projection and perikaryon. Predicted to be active in neuromuscular junction and recycling endosome. Predicted to colocalize with cuticular plate. [provided by Alliance of Genome Resources, Apr 2022]

FCHSD1 基因产物(1)

mRNA Protein Name
NM_033449.3 NP_258260.1 F-BAR and double SH3 domains protein 1

FCHSD1 蛋白结构

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (20 - 106)

SH3_9

SH3_9: Variant SH3 domain (475 - 524)

SH3_9

SH3_9: Variant SH3 domain (553 - 604)

  • 0
  • 200
  • 400
  • 600
  • 690 a.a.
蛋白主名 其他名称

F-BAR and double SH3 domains protein 1

FCH and double SH3 domains protein 1

关联疾病

疾病名称 别名
Large Congenital Melanocytic Nevus

Giant Pigmented Hairy Nevus

Giant Congenital Melanocytic Nevus

Gmn

Congenital Pigmented Nevus

Lcmn

Gphn

Giant Congenital Nevus

Bathing Trunk Nevus

Congenital Giant Pigmented Nevus

Congenital Hairy Nevus

Giant Hairy Nevus

Giant Pigmented Nevus

Congenital Giant Pigmented Nevus Of Skin

Congenital Melanocytic Nevus Syndrome

Giant Congenital Melanocytic Nevi

Giant Congenital Pigmented Nevus

Melanocytic Nevus Syndrome, Congenital

Childhood Astrocytic Tumor

Juvenile Astrocytoma

Pediatric Astrocytoma

Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia

Fbh

Fbhh

Fhh

Familial Benign Hypocalciuric Hypercalcemia

Hypocalciuric Hypercalcemia, Familial, Type 1

Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer

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
Bos taurus FCHSD1 VGNC VGNC:108129
Macaca mulatta FCHSD1 VGNC VGNC:72574
Mus musculus FCHSD1 MGD MGI:2441771
Canis familiaris FCHSD1 VGNC VGNC:40806
Felis catus FCHSD1 VGNC VGNC:62212
Rattus norvegicus FCHSD1 RGD RGD:1308240