Aliases for FSD1L Gene

Aliases for FSD1L Gene

  • Fibronectin Type III And SPRY Domain Containing 1 Like 2 3 5
  • Cystatin And DUF19 Domain Containing 1 2 3
  • Coiled-Coil Domain Containing 10 2 3
  • FSD1-Like Protein 3 4
  • CSDUFD1 3 4
  • CCDC10 3 4
  • FSD1CL 3 4
  • FSD1NL 3 4
  • Fibronectin Type III And SPRY Domain Containing 1-Like 2
  • Coiled-Coil Domain-Containing Protein 10 4
  • FSD1 N-Terminal-Like Protein 4
  • FSD1 C-Terminal Like 3
  • FSD1 N-Terminal Like 3
  • FSD1L 5
  • MIR1 3

External Ids for FSD1L Gene

Previous HGNC Symbols for FSD1L Gene

  • CSDUFD1
  • CCDC10
  • FSD1NL
  • FSD1CL

Previous GeneCards Identifiers for FSD1L Gene

  • GC09P105343
  • GC09P107250
  • GC09P108210
  • GC09P077813

Summaries for FSD1L Gene

GeneCards Summary for FSD1L Gene

FSD1L (Fibronectin Type III And SPRY Domain Containing 1 Like) is a Protein Coding gene. Diseases associated with FSD1L include Muscular Dystrophy-Dystroglycanopathy , Type A, 1 and Walker-Warburg Syndrome. An important paralog of this gene is FSD1.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FSD1L Gene

Genomics for FSD1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FSD1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J105446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257 +6.5 6513 3.4 CHD2 TBP MXD4 NR2C1 IKZF1 SMAD5 ZNF217 BHLHE40 ELF1 HOMEZ FSD1L FKTN piR-50443-384 piR-41195-120
GH09J105500 Promoter/Enhancer 1 EPDnew ENCODE 260.8 +58.4 58420 1.1 TAF1 ZNF24 IKZF1 BMI1 ATF2 JUNB POLR2A ARID3A ATF7 SPI1 FSD1L FKTN lnc-FKTN-1 piR-58308-361 piR-56883-194
GH09J105441 Enhancer 0.3 ENCODE dbSUPER 250.7 -0.2 -213 0.5 FSD1L piR-50443-384 HSALNG0073448 SLC44A1
GH09J105506 Enhancer 1.1 FANTOM5 Ensembl ENCODE 18 +67.4 67401 6.4 CEBPA FOXA2 SAP130 RARA BCL6 CBFB CREM SOX5 HMG20A ZNF24 FSD1L FKTN TMEM38B piR-56883-194 piR-58308-361 lnc-FKTN-1
GH09J105289 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -146.9 -146882 11.4 MXD4 CEBPA ZNF217 BRCA1 HOMEZ KDM6A THAP11 CEBPB FOXA2 ZNF511 HSALNG0073443 SLC44A1 ABCA1 FSD1L TMEM38B NONHSAG053105.2 MK280607-153
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FSD1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FSD1L

Top Transcription factor binding sites by QIAGEN in the FSD1L gene promoter:
  • FOXI1
  • FOXJ2 (long isoform)
  • HFH-3
  • Nkx2-5
  • Pax-5

Genomic Locations for FSD1L Gene

Latest Assembly
chr9:105,442,183-105,552,433
(GRCh38/hg38)
Size:
110,251 bases
Orientation:
Plus strand

Previous Assembly
chr9:108,210,315-108,314,714
(GRCh37/hg19 by Entrez Gene)
Size:
104,400 bases
Orientation:
Plus strand

chr9:108,210,077-108,314,714
(GRCh37/hg19 by Ensembl)
Size:
104,638 bases
Orientation:
Plus strand

Genomic View for FSD1L Gene

Genes around FSD1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSD1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSD1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSD1L Gene

Proteins for FSD1L Gene

  • Protein details for FSD1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXM9-FSD1L_HUMAN
    Recommended name:
    FSD1-like protein
    Protein Accession:
    Q9BXM9
    Secondary Accessions:
    • A2A338
    • A6NKH7
    • B7Z5S6
    • B7Z5W3
    • Q5T879
    • Q5T880

    Protein attributes for FSD1L Gene

    Size:
    530 amino acids
    Molecular mass:
    59578 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: Due to intron retention.

    Alternative splice isoforms for FSD1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FSD1L Gene

Post-translational modifications for FSD1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FSD1L Gene

Domains & Families for FSD1L Gene

Gene Families for FSD1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FSD1L Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57313, highly similar to Homo sapiens fibronectin type III and SPRY domain containing 1-like, transcript variant 1, mRNA (B7Z3W5_HUMAN)
  • FSD1 N-terminal-like protein (FSD1L_HUMAN)
genes like me logo Genes that share domains with FSD1L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FSD1L Gene

Function for FSD1L Gene

Phenotypes From GWAS Catalog for FSD1L Gene

Gene Ontology (GO) - Molecular Function for FSD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with FSD1L: view
genes like me logo Genes that share phenotypes with FSD1L: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSD1L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FSD1L Gene

Localization for FSD1L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FSD1L gene
Compartment Confidence
cytosol 3
plasma membrane 2
cytoskeleton 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FSD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FSD1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for FSD1L Gene

Pathways & Interactions for FSD1L Gene

PathCards logo

SuperPathways for FSD1L Gene

No Data Available

Interacting Proteins for FSD1L Gene

Gene Ontology (GO) - Biological Process for FSD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FSD1L: view

No data available for Pathways by source and SIGNOR curated interactions for FSD1L Gene

Drugs & Compounds for FSD1L Gene

No Compound Related Data Available

Transcripts for FSD1L Gene

mRNA/cDNA for FSD1L Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSD1L

Alternative Splicing Database (ASD) splice patterns (SP) for FSD1L Gene

No ASD Table

Relevant External Links for FSD1L Gene

GeneLoc Exon Structure for
FSD1L

Expression for FSD1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FSD1L Gene

Protein differential expression in normal tissues from HIPED for FSD1L Gene

This gene is overexpressed in Fetal Brain (22.0), Spinal cord (12.8), Testis (12.1), and Brain (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FSD1L Gene



Protein tissue co-expression partners for FSD1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSD1L

SOURCE GeneReport for Unigene cluster for FSD1L Gene:

Hs.136901

Evidence on tissue expression from TISSUES for FSD1L Gene

  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with FSD1L: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FSD1L Gene

Orthologs for FSD1L Gene

This gene was present in the common ancestor of animals.

Orthologs for FSD1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FSD1L 30 31
  • 99.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FSD1L 30 31
  • 94.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FSD1L 30 31
  • 93.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FSD1L 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Fsd1l 30 17 31
  • 90.24 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FSD1L 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fsd1l 30
  • 88.42 (n)
Chicken
(Gallus gallus)
Aves FSD1L 30 31
  • 74.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FSD1L 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fsd1l 30
  • 77.21 (n)
Zebrafish
(Danio rerio)
Actinopterygii fsd1l 30 31
  • 67.53 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Trim9 31
  • 13 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea trim-9 31
  • 14 (a)
OneToMany
Species where no ortholog for FSD1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FSD1L Gene

ENSEMBL:
Gene Tree for FSD1L (if available)
TreeFam:
Gene Tree for FSD1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FSD1L: view image

Paralogs for FSD1L Gene

Paralogs for FSD1L Gene

(2) SIMAP similar genes for FSD1L Gene using alignment to 5 proteins:

  • FSD1L_HUMAN
  • B7Z3W5_HUMAN
  • C9JD05_HUMAN
  • F8W946_HUMAN
  • Q8N450_HUMAN
genes like me logo Genes that share paralogs with FSD1L: view

Variants for FSD1L Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FSD1L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FSD1L Gene

Variant ID Type Subtype PubMed ID
esv3891705 CNV loss 25118596
nsv1037750 CNV gain 25217958
nsv1053973 CNV loss 25217958
nsv1110046 CNV deletion 24896259
nsv416298 CNV deletion 16902084
nsv615115 CNV loss 21841781
nsv982334 CNV duplication 23825009

Variation tolerance for FSD1L Gene

Gene Damage Index Score: 2.67; 45.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FSD1L Gene

Human Gene Mutation Database (HGMD)
FSD1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSD1L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FSD1L Gene

Disorders for FSD1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for FSD1L Gene - From: CVR and COP

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 1
  • mddga1
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
pancreatic adenosquamous carcinoma
  • adenosquamous carcinoma of pancreas
- elite association - COSMIC cancer census association via MalaCards
Search FSD1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FSD1L

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FSD1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FSD1L Gene

Publications for FSD1L Gene

  1. Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. (PMID: 11267680) Carim-Todd L … Sumoy L (Biochimica et biophysica acta 2001) 2 3 4
  2. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. (PMID: 19448620) Perry JR … Murabito JM (Nature genetics 2009) 3 41
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3
  5. ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G Degradation in HIV Infection. (PMID: 31253590) Hüttenhain R … Krogan NJ (Cell host & microbe 2019) 3

Products for FSD1L Gene

Sources for FSD1L Gene