FCHSD1 - FCH and double SH3 domains 1 Gene

Also Known as NWK2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 89848

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
Others FCHSD1 NCBI