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

FCHSD1 - FCH and double SH3 domains 1 Gene

Homo sapiens

Also known as NWK2

Gene ID: 89848 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

FCHSD1 Protein Structure

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.
Protein Preferred Names Protein Names

F-BAR and double SH3 domains protein 1

FCH and double SH3 domains protein 1

Related Diseases

Diseases Alias
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

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
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