Aliases for FSIP1 Gene

Aliases for FSIP1 Gene

  • Fibrous Sheath Interacting Protein 1 2 3 5
  • Fibrous Sheath-Interacting Protein 1 3 4
  • FLJ35989 2
  • HSD10 3
  • FSIP1 5

External Ids for FSIP1 Gene

Previous GeneCards Identifiers for FSIP1 Gene

  • GC15M037609
  • GC15M037679
  • GC15M039892
  • GC15M016735

Summaries for FSIP1 Gene

GeneCards Summary for FSIP1 Gene

FSIP1 (Fibrous Sheath Interacting Protein 1) is a Protein Coding gene. Diseases associated with FSIP1 include Syndromic X-Linked Intellectual Disability Type 10 and Alpha-Methylacetoacetic Aciduria.

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 FSIP1 Gene

Genomics for FSIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FSIP1 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
GH15J039781 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.2 -181 2.8 SP1 MYC ZNF207 SIX5 JUND ZNF580 ZMYM3 ATF2 POLR2A BRCA1 ENSG00000261136 FSIP1 LOC105370941 ENSG00000259580 GPR176
GH15J039620 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 15.5 +156.5 156457 10.8 BCLAF1 SP1 JUND CEBPA BCL11A SIN3A TRIM22 FEZF1 HOMEZ CTCF LOC105370785 FSIP1 THBS1 HSALNG0105175
GH15J039932 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.6 -151.7 -151714 3.8 BCLAF1 SP1 ZNF207 MYC ZNF600 IKZF1 ZNF592 POLR2A NFIC YY1 EIF2AK4 FSIP1 C15orf62 SNODB1087 SRP14
GH15J039884 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -104.7 -104660 7.4 ZNF654 POLR2A CEBPB CTCF EP300 THAP11 FOXA2 RXRA RAD21 SMC3 GPR176 EIF2AK4 GPR176-DT ENSG00000200305 FSIP1 piR-54764-193 piR-32214-201
GH15J039577 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 +199.2 199152 11.4 ZNF207 ZNF654 SSRP1 ZNF580 POLR2A ZIC2 ZBTB10 YY1 MXD4 CTCF THBS1 FSIP1 ENSG00000276107 HSALNG0105169 ENSG00000278621
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FSIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FSIP1

Top Transcription factor binding sites by QIAGEN in the FSIP1 gene promoter:
  • AML1a
  • AREB6
  • E47
  • Evi-1
  • HNF-3beta
  • IRF-7A
  • LCR-F1
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for FSIP1 Gene

Latest Assembly
chr15:39,588,357-39,782,841
(GRCh38/hg38)
Size:
194,485 bases
Orientation:
Minus strand

Previous Assembly
chr15:39,892,232-40,075,042
(GRCh37/hg19 by Entrez Gene)
Size:
182,811 bases
Orientation:
Minus strand

chr15:39,892,232-40,075,031
(GRCh37/hg19 by Ensembl)
Size:
182,800 bases
Orientation:
Minus strand

Genomic View for FSIP1 Gene

Genes around FSIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSIP1 Gene

Proteins for FSIP1 Gene

  • Protein details for FSIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA03-FSIP1_HUMAN
    Recommended name:
    Fibrous sheath-interacting protein 1
    Protein Accession:
    Q8NA03
    Secondary Accessions:
    • Q6X2C8
    • Q86Y89

    Protein attributes for FSIP1 Gene

    Size:
    581 amino acids
    Molecular mass:
    66121 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FSIP1 Gene

Post-translational modifications for FSIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FSIP1 Gene

Domains & Families for FSIP1 Gene

Gene Families for FSIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FSIP1 Gene

InterPro:

Suggested Antigen Peptide Sequences for FSIP1 Gene

GenScript: Design optimal peptide antigens:
  • Fibrous sheath-interacting protein 1 (FSIP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NA03

UniProtKB/Swiss-Prot:

FSIP1_HUMAN :
  • Belongs to the FSIP1 family.
Family:
  • Belongs to the FSIP1 family.
genes like me logo Genes that share domains with FSIP1: view

Function for FSIP1 Gene

Phenotypes From GWAS Catalog for FSIP1 Gene

genes like me logo Genes that share phenotypes with FSIP1: view

miRNA for FSIP1 Gene

miRTarBase miRNAs that target FSIP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSIP1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FSIP1 Gene

Localization for FSIP1 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 FSIP1 gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FSIP1 Gene

Pathways & Interactions for FSIP1 Gene

PathCards logo

SuperPathways for FSIP1 Gene

No Data Available

Interacting Proteins for FSIP1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000280236 Q8NA03-FSIP1_HUMAN for FSIP1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for FSIP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FSIP1 Gene

Drugs & Compounds for FSIP1 Gene

(1) Drugs for FSIP1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma 1600
genes like me logo Genes that share compounds with FSIP1: view

Transcripts for FSIP1 Gene

mRNA/cDNA for FSIP1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 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 FSIP1

Alternative Splicing Database (ASD) splice patterns (SP) for FSIP1 Gene

No ASD Table

Relevant External Links for FSIP1 Gene

GeneLoc Exon Structure for
FSIP1

Expression for FSIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FSIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FSIP1 Gene

This gene is overexpressed in Testis (x10.1).

Protein differential expression in normal tissues from HIPED for FSIP1 Gene

This gene is overexpressed in Brain (42.1) and Testis (24.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FSIP1 Gene



Protein tissue co-expression partners for FSIP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSIP1

SOURCE GeneReport for Unigene cluster for FSIP1 Gene:

Hs.129598

Evidence on tissue expression from TISSUES for FSIP1 Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with FSIP1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FSIP1 Gene

Orthologs for FSIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FSIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FSIP1 29 30
  • 99.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FSIP1 29 30
  • 84.02 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FSIP1 29 30
  • 83.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fsip1 29 16 30
  • 74.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fsip1 29
  • 72.67 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FSIP1 30
  • 47 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FSIP1 30
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FSIP1 29 30
  • 57.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FSIP1 30
  • 33 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fsip1 29
  • 50.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii fsip1 29
  • 47.71 (n)
Species where no ortholog for FSIP1 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for FSIP1 Gene

ENSEMBL:
Gene Tree for FSIP1 (if available)
TreeFam:
Gene Tree for FSIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FSIP1: view image
Alliance of Genome Resources:
Additional Orthologs for FSIP1

Paralogs for FSIP1 Gene

No data available for Paralogs for FSIP1 Gene

Variants for FSIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FSIP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1565560 Benign: not specified 39,770,624(-) C/A
NM_152597.5(FSIP1):c.127-14G>T
INTRON
rs182307290 Benign: not provided 39,713,530(-) T/A
NM_152597.5(FSIP1):c.1102A>T (p.Ile368Leu)
MISSENSE
rs10152640 -- p.Cys402Arg
rs1166719 -- p.Asn64Asp
rs12908846 -- p.Leu411Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FSIP1 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 FSIP1 Gene

Variant ID Type Subtype PubMed ID
esv1286390 CNV insertion 17803354
esv24232 CNV loss 19812545
esv2749591 CNV deletion 23290073
esv3569465 CNV gain 25503493
esv3636219 CNV loss 21293372
nsv1048628 CNV gain 25217958
nsv1127427 CNV deletion 24896259
nsv1502 CNV deletion 18451855
nsv832977 CNV gain 17160897
nsv832978 CNV gain 17160897
nsv832979 CNV gain+loss 17160897

Variation tolerance for FSIP1 Gene

Residual Variation Intolerance Score: 87.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.51; 92.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FSIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSIP1
Leiden Open Variation Database (LOVD)
FSIP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSIP1 Gene

Disorders for FSIP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FSIP1 Gene - From: COP

Disorder Aliases PubMed IDs
syndromic x-linked intellectual disability type 10
  • hsd10 deficiency, atypical type
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
combined oxidative phosphorylation deficiency 30
  • coxpd30
- elite association - COSMIC cancer census association via MalaCards
Search FSIP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FSIP1

Human Genome Epidemiology Navigator
(HuGE)
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 FSIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FSIP1 Gene

Publications for FSIP1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Positive association between aspirin-intolerant asthma and genetic polymorphisms of FSIP1: a case-case study. (PMID: 20513247) Kim JY … Shin HD (BMC pulmonary medicine 2010) 3 40
  4. Loss-of-function variants in FSIP1 identified by targeted sequencing are associated with one particular subtype of mucosal melanoma. (PMID: 32717308) Chen M … Zhang B (Gene 2020) 3
  5. FSIP1 is correlated with estrogen receptor status and poor prognosis. (PMID: 31713931) Li X … Li M (Molecular carcinogenesis 2020) 3

Products for FSIP1 Gene

Sources for FSIP1 Gene