U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FCHSD1 FCH and double SH3 domains 1 [ Homo sapiens (human) ]

Gene ID: 89848, updated on 17-Jun-2024

Summary

Official Symbol
FCHSD1provided by HGNC
Official Full Name
FCH and double SH3 domains 1provided by HGNC
Primary source
HGNC:HGNC:25463
See related
Ensembl:ENSG00000197948 MIM:617555; AllianceGenome:HGNC:25463
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NWK2
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]
Expression
Ubiquitous expression in skin (RPKM 9.3), lymph node (RPKM 8.7) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FCHSD1 in Genome Data Viewer
Location:
5q31.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141639302..141651418, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142165308..142177433, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141018869..141030985, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene diaphanous related formin 1 Neighboring gene RPS27A pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23308 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:140998145-140998341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23309 Neighboring gene Sharpr-MPRA regulatory region 64 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23311 Neighboring gene histone deacetylase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141029007-141029585 Neighboring gene RELT like 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:141037429-141038628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16459 Neighboring gene ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141053759-141054426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141054427-141055095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141071853-141072386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141072387-141072920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141080718-141081218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23312 Neighboring gene uncharacterized LOC124901092 Neighboring gene uncharacterized LOC124901093

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ00007

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in membrane organization IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with cuticular plate ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
F-BAR and double SH3 domains protein 1
Names
FCH and double SH3 domains protein 1
nervous wreck homolog 2
protein nervous wreck 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_258260.1

    Status: VALIDATED

    Source sequence(s)
    AC008781, AY217346
    Consensus CDS
    CCDS47295.1
    UniProtKB/Swiss-Prot
    Q6UX75, Q86WN1, Q86Y77, Q9NXX8
    UniProtKB/TrEMBL
    E5RGT6
    Related
    ENSP00000399259.2, ENST00000435817.7
    Conserved Domains (3) summary
    cd07678
    Location:16275
    F-BAR_FCHSD1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH and double SH3 domains 1 (FCHSD1)
    cd11761
    Location:470526
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11895
    Location:550607
    SH3_FCHSD1_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    141639302..141651418 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417860.1XP_047273816.1  F-BAR and double SH3 domains protein 1 isoform X3

    UniProtKB/TrEMBL
    E5RGT6
  2. XM_005268524.6XP_005268581.1  F-BAR and double SH3 domains protein 1 isoform X1

    UniProtKB/TrEMBL
    E5RGT6
    Related
    ENSP00000428677.1, ENST00000522783.5
    Conserved Domains (3) summary
    cd11761
    Location:468524
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11895
    Location:548605
    SH3_FCHSD1_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 1
    cl12013
    Location:16273
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_006714803.5XP_006714866.1  F-BAR and double SH3 domains protein 1 isoform X2

    UniProtKB/TrEMBL
    E5RGT6
    Conserved Domains (3) summary
    cd11761
    Location:427483
    SH3_FCHSD_1; First Src Homology 3 domain of FCH and double SH3 domains proteins
    cd11895
    Location:507564
    SH3_FCHSD1_2; Second Src Homology 3 domain of FCH and double SH3 domains protein 1
    cl12013
    Location:16232
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_047417861.1XP_047273817.1  F-BAR and double SH3 domains protein 1 isoform X4

    UniProtKB/TrEMBL
    E5RGT6
  5. XM_011537700.4XP_011536002.1  F-BAR and double SH3 domains protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011536002.1

    Related
    ENSP00000427796.1, ENST00000522126.5
    Conserved Domains (1) summary
    cl12013
    Location:16275
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. XM_011537701.4XP_011536003.1  F-BAR and double SH3 domains protein 1 isoform X6

    Conserved Domains (1) summary
    cl12013
    Location:16275
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. XR_944338.4 RNA Sequence

  2. XR_427781.5 RNA Sequence

  3. XR_944339.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    142165308..142177433 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353743.1XP_054209718.1  F-BAR and double SH3 domains protein 1 isoform X3

    UniProtKB/TrEMBL
    E5RGT6
  2. XM_054353741.1XP_054209716.1  F-BAR and double SH3 domains protein 1 isoform X1

    UniProtKB/TrEMBL
    E5RGT6
  3. XM_054353742.1XP_054209717.1  F-BAR and double SH3 domains protein 1 isoform X2

    UniProtKB/TrEMBL
    E5RGT6
  4. XM_054353744.1XP_054209719.1  F-BAR and double SH3 domains protein 1 isoform X5

  5. XM_054353745.1XP_054209720.1  F-BAR and double SH3 domains protein 1 isoform X6

RNA

  1. XR_008487189.1 RNA Sequence

  2. XR_008487191.1 RNA Sequence

  3. XR_008487190.1 RNA Sequence