Aliases for SFI1 Gene

Aliases for SFI1 Gene

  • SFI1 Centrin Binding Protein 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 139 2 3
  • Protein SFI1 Homolog 3 4
  • Sfi1 Homolog, Spindle Assembly Associated (Yeast) 2
  • Sfi1 Homolog, Spindle Assembly Associated 3
  • Homolog Of Yeast Sfi1 3
  • PPP1R139 3
  • KIAA0542 4
  • HSfi1p 3
  • HSFI1 4
  • PISD 3

External Ids for SFI1 Gene

Previous GeneCards Identifiers for SFI1 Gene

  • GC22P030217
  • GC22P031884
  • GC22P014853

Summaries for SFI1 Gene

GeneCards Summary for SFI1 Gene

SFI1 (SFI1 Centrin Binding Protein) is a Protein Coding gene. Diseases associated with SFI1 include Inflammatory Bowel Disease 2 and Spherocytosis, Type 1. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include phosphatase binding. An important paralog of this gene is CCDC191.

UniProtKB/Swiss-Prot Summary for SFI1 Gene

  • Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2.

Additional gene information for SFI1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFI1 Gene

Genomics for SFI1 Gene

GeneHancer (GH) Regulatory Elements for SFI1 Gene

Promoters and enhancers for SFI1 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
GH22J031488 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 515.3 +1.7 1682 4.5 ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 ZFX ZNF10 ZIC2 POLR2A SFI1 ENSG00000287817 EIF4ENIF1 RF00017-3804 DRG1
GH22J031493 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 517.3 +7.0 7011 4.6 ZBTB40 SIN3A NRF1 POLR2G CTCF ZIC2 ZBTB10 POLR2A CLOCK ZBTB11 SFI1 EIF4ENIF1 PIK3IP1 PISD ENSG00000287817 RF00017-3804 DRG1
GH22J031612 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 511.1 +126.5 126472 4.7 POLR2G POLR2A RELA TCF12 KAT7 USF1 SAP130 RBM22 NBN MXD4 SFI1 TUG1 RTCB ENSG00000232346 MORC2 EIF4ENIF1 ENSG00000240591 PIK3IP1 RNF185 MIR7109
GH22J031528 Promoter 0.3 EPDnew 500.3 +40.1 40087 0.1 SFI1 H2AZP6 RF00017-3804 lnc-EIF4ENIF1-4 DRG1
GH22J031623 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15 +139.0 139002 8.6 ZBTB40 CTCF NRF1 POLR2G USF1 PHB2 ZNF639 ZIC2 ZBTB10 POLR2A PISD TUG1 SLC5A4 ENSG00000232218 SFI1 RNF185 PRR14L DUSP18 DEPDC5 MORC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFI1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFI1

Top Transcription factor binding sites by QIAGEN in the SFI1 gene promoter:
  • Bach1
  • HOXA9
  • HOXA9B
  • Lmo2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Sp1

Genomic Locations for SFI1 Gene

Genomic Locations for SFI1 Gene
chr22:31,488,688-31,618,588
(GRCh38/hg38)
Size:
129,901 bases
Orientation:
Plus strand
chr22:31,884,674-32,014,572
(GRCh37/hg19)
Size:
129,899 bases
Orientation:
Plus strand

Genomic View for SFI1 Gene

Genes around SFI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFI1 Gene

Proteins for SFI1 Gene

  • Protein details for SFI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8K8P3-SFI1_HUMAN
    Recommended name:
    Protein SFI1 homolog
    Protein Accession:
    A8K8P3
    Secondary Accessions:
    • A1L373
    • A1L387
    • A2A2L2
    • B1AKL9
    • B5MDB7
    • B7Z1V6
    • B7Z8G3
    • B7ZBE2
    • B7ZBE3
    • O60289
    • Q2TAN8
    • Q5W1B5
    • Q86TK0
    • Q8N4U8
    • Q8N8C1
    • Q8WU14

    Protein attributes for SFI1 Gene

    Size:
    1242 amino acids
    Molecular mass:
    147664 Da
    Quaternary structure:
    • Interacts with CETN2 (via C-terminus).
    SequenceCaution:
    • Sequence=AAI10815.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI29927.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA25468.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SFI1 Gene

    Alternative splice isoforms for SFI1 Gene

neXtProt entry for SFI1 Gene

Post-translational modifications for SFI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SFI1 Gene

Domains & Families for SFI1 Gene

Gene Families for SFI1 Gene

Protein Domains for SFI1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SFI1 Gene

GenScript: Design optimal peptide antigens:
  • Sfi1 homolog, spindle assembly associated (Yeast) (B0QZ17_HUMAN)
  • Sfi1 homolog, spindle assembly associated (Yeast) (B7ZBE1_HUMAN)
  • Protein SFI1 homolog (SFI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A8K8P3

UniProtKB/Swiss-Prot:

SFI1_HUMAN :
  • CETN2-binding regions contains a conserved Trp residue in their C-terminal ends, which seems critical for interaction with CETN2.
  • Belongs to the SFI1 family.
Domain:
  • CETN2-binding regions contains a conserved Trp residue in their C-terminal ends, which seems critical for interaction with CETN2.
Family:
  • Belongs to the SFI1 family.
genes like me logo Genes that share domains with SFI1: view

Function for SFI1 Gene

Molecular function for SFI1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2.

Phenotypes From GWAS Catalog for SFI1 Gene

Gene Ontology (GO) - Molecular Function for SFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16956364
GO:0019902 phosphatase binding IDA 19389623
genes like me logo Genes that share ontologies with SFI1: view
genes like me logo Genes that share phenotypes with SFI1: view

Animal Model Products

CRISPR Products

miRNA for SFI1 Gene

miRTarBase miRNAs that target SFI1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFI1 Gene

Localization for SFI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFI1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localized close to the centriole.

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 SFI1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA --
GO:0005814 centriole IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SFI1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFI1 Gene

Pathways & Interactions for SFI1 Gene

genes like me logo Genes that share pathways with SFI1: view

Gene Ontology (GO) - Biological Process for SFI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0097711 ciliary basal body-plasma membrane docking TAS --
genes like me logo Genes that share ontologies with SFI1: view

No data available for SIGNOR curated interactions for SFI1 Gene

Drugs & Compounds for SFI1 Gene

No Compound Related Data Available

Transcripts for SFI1 Gene

mRNA/cDNA for SFI1 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFI1 Gene

No ASD Table

Relevant External Links for SFI1 Gene

GeneLoc Exon Structure for
SFI1

Expression for SFI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SFI1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.3) and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for SFI1 Gene

This gene is overexpressed in Rectum (64.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SFI1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFI1

SOURCE GeneReport for Unigene cluster for SFI1 Gene:

Hs.62209

Evidence on tissue expression from TISSUES for SFI1 Gene

  • Nervous system(4.7)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with SFI1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFI1 Gene

Orthologs for SFI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SFI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFI1 31 30
  • 99.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SFI1 31 30
  • 82.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SFI1 31 30
  • 77.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sfi1 17 31 30
  • 76.22 (n)
rat
(Rattus norvegicus)
Mammalia Sfi1 30
  • 75.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SFI1 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFI1 31 30
  • 50.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFI1 31
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfi1 30
  • 49.77 (n)
zebrafish
(Danio rerio)
Actinopterygii sfi1 31 30
  • 43.42 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 8 (a)
OneToOne
Species where no ortholog for SFI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 SFI1 Gene

ENSEMBL:
Gene Tree for SFI1 (if available)
TreeFam:
Gene Tree for SFI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFI1: view image

Paralogs for SFI1 Gene

Paralogs for SFI1 Gene

genes like me logo Genes that share paralogs with SFI1: view

Variants for SFI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFI1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs12171042 - p.Leu1087Pro
rs16989291 - p.Trp330Arg
rs16989698 - p.Arg72His
rs2006771 - p.Arg549Gln
rs5749290 - p.His13Leu

Additional dbSNP identifiers (rs#s) for SFI1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SFI1 Gene

Variant ID Type Subtype PubMed ID
esv1038327 CNV deletion 17803354
esv1430494 CNV deletion 17803354
esv1485049 CNV deletion 17803354
esv1626782 CNV deletion 17803354
esv2663679 CNV deletion 23128226
esv2724141 CNV deletion 23290073
esv2724142 CNV deletion 23290073
esv3325006 CNV insertion 20981092
esv3568358 CNV loss 25503493
esv3647589 CNV loss 21293372
esv3647590 CNV loss 21293372
nsv1059314 CNV gain 25217958
nsv1060776 CNV gain 25217958
nsv1063634 CNV gain 25217958
nsv1110864 OTHER inversion 24896259
nsv1116955 CNV deletion 24896259
nsv3594 CNV insertion 18451855
nsv517534 CNV loss 19592680
nsv588894 CNV loss 21841781
nsv829176 CNV loss 20364138
nsv953070 CNV deletion 24416366
nsv964622 CNV duplication 23825009

Variation tolerance for SFI1 Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.66; 98.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFI1 Gene

Disorders for SFI1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SFI1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
inflammatory bowel disease 2
  • ibd2
spherocytosis, type 1
  • sph1
- elite association - COSMIC cancer census association via MalaCards
Search SFI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SFI1

genes like me logo Genes that share disorders with SFI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SFI1 Gene

Publications for SFI1 Gene

  1. Sfi1p has conserved centrin-binding sites and an essential function in budding yeast spindle pole body duplication. (PMID: 14504268) Kilmartin JV (The Journal of cell biology 2003) 2 3 4 54
  2. Structure, dynamics and thermodynamics of the human centrin 2/hSfi1 complex. (PMID: 19857500) Martinez-Sanz J … Craescu CT (Journal of molecular biology 2010) 2 3 54
  3. Binding of human centrin 2 to the centrosomal protein hSfi1. (PMID: 16956364) Martinez-Sanz J … Craescu CT (The FEBS journal 2006) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 54

Products for SFI1 Gene

Sources for SFI1 Gene