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    SFI1 SFI1 centrin binding protein [ Homo sapiens (human) ]

    Gene ID: 9814, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SFI1provided by HGNC
    Official Full Name
    SFI1 centrin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29064
    See related
    Ensembl:ENSG00000198089 MIM:612765; AllianceGenome:HGNC:29064
    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
    PISD; hSfi1p; PPP1R139
    Summary
    Enables phosphatase binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lymph node (RPKM 6.7), spleen (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q12.2
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31496139..31618588)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31960767..32082593)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31892125..32014574)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31795617-31796522 Neighboring gene developmentally regulated GTP binding protein 1 Neighboring gene eukaryotic translation initiation factor 4E nuclear import factor 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr22:31885137-31885760 and GRCh37_chr22:31885761-31886383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13635 Neighboring gene RNA, U6 small nuclear 28, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18862 Neighboring gene H2A.Z histone pseudogene 6 Neighboring gene ribosomal protein S18 pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 2577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18863 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:31987010-31987819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31988629-31989437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32006104-32006750 Neighboring gene VISTA enhancer hs2240 Neighboring gene Sharpr-MPRA regulatory region 13794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32027367-32028054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18865 Neighboring gene microRNA 7109 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:32042322-32043521 Neighboring gene phosphatidylserine decarboxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32056038-32056932 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:32057235-32058434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32060967-32061468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32091023-32091524 Neighboring gene proline rich 14 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32145128-32145760 Neighboring gene Sharpr-MPRA regulatory region 5994

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Human SFI1 and Centrin form a complex critical for centriole architecture and ciliogenesis. Laporte MH, et al. EMBO J, 2022 Nov 2. PMID 36125182, Free PMC Article
    2. Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia. Karlsson L, et al. J Steroid Biochem Mol Biol, 2020 Jul. PMID 32428554
    3. Structure, dynamics and thermodynamics of the human centrin 2/hSfi1 complex. Martinez-Sanz J, et al. J Mol Biol, 2010 Jan 8. PMID 19857500
    4. Binding of human centrin 2 to the centrosomal protein hSfi1. Martinez-Sanz J, et al. FEBS J, 2006 Oct. PMID 16956364
    5. A chirality change in XPC- and Sfi1-derived peptides affects their affinity for centrin. Grecu D, et al. Peptides, 2016 Apr. PMID 26923803

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human SFI1 and Centrin form a complex critical for centriole architecture and ciliogenesis.
      Title: Human SFI1 and Centrin form a complex critical for centriole architecture and ciliogenesis.
    2. Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.
      Title: Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.
    3. these results demonstrate that SFI1 is a centrosomal protein that localizes USP9X to the centrosome to stabilize STIL and promote centriole duplication. We propose that the USP9X protection of STIL to facilitate centriole duplication underlies roles of both proteins in human neurodevelopment.
      Title: SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL.
    4. A chirality change in XPC- and Sfi1-derived peptides affects their affinity for centrin.
      Title: A chirality change in XPC- and Sfi1-derived peptides affects their affinity for centrin.
    5. The structure of C-HsCen2 [the C-terminal domain of HsCen2 (T94-Y172)] in complex with R17-hSfi1-20 was determined.
      Title: Structure, dynamics and thermodynamics of the human centrin 2/hSfi1 complex.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of Sfi1 homolog, spindle assembly associated (yeast) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC57874, MGC131712, MGC150663, MGC156283

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein SFI1 homolog
    Names
    Sfi1 homolog, spindle assembly associated
    homolog of yeast Sfi1
    protein phosphatase 1, regulatory subunit 139

    NCBI Reference Sequences (RefSeq)

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    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_001007467.3 → NP_001007468.1  protein SFI1 homolog isoform a

      See identical proteins and their annotated locations for NP_001007468.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AI141022, AK292408, AL096768, AL708501, BC021576, DC369842
      Consensus CDS
      CCDS43004.1
      UniProtKB/Swiss-Prot
      A1L373, A1L387, A2A2L2, A8K8P3, B1AKL9, B5MDB7, B7Z1V6, B7Z8G3, B7ZBE2, B7ZBE3, O60289, Q2TAN8, Q5W1B5, Q86TK0, Q8N4U8, Q8N8C1, Q8WU14
      UniProtKB/TrEMBL
      D3YTJ2
      Related
      ENSP00000383145.2, ENST00000400288.7
      Conserved Domains (3) summary
      pfam08457
      Location:340 → 846
      Sfi1; Sfi1 spindle body protein
      pfam11235
      Location:963 → 1124
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam16181
      Location:986 → 1081
      RelB_transactiv; RelB transactivation domain

    2. NM_001258325.1 → NP_001245254.1  protein SFI1 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AI141022, AK293987, AL708501, BC021576, DA534059, DC369327, DC369842
      Consensus CDS
      CCDS58803.1
      UniProtKB/TrEMBL
      D3YTJ2
      Related
      ENSP00000443025.1, ENST00000540643.5
      Conserved Domains (3) summary
      pfam08457
      Location:328 → 791
      Sfi1; Sfi1 spindle body protein
      pfam11235
      Location:908 → 1069
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam16181
      Location:931 → 1026
      RelB_transactiv; RelB transactivation domain

    3. NM_001258326.2 → NP_001245255.1  protein SFI1 homolog isoform d

      See identical proteins and their annotated locations for NP_001245255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and lacks two consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AI141022, AL096768, AL708501, BC021576, BC110814, DA202472, DC369842
      Consensus CDS
      CCDS58804.1
      UniProtKB/TrEMBL
      D3YTJ2
      Related
      ENSP00000383146.1, ENST00000400289.5
      Conserved Domains (3) summary
      pfam08457
      Location:258 → 758
      Sfi1; Sfi1 spindle body protein
      pfam11235
      Location:881 → 1042
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam16181
      Location:904 → 999
      RelB_transactiv; RelB transactivation domain

    4. NM_001258327.2 → NP_001245256.1  protein SFI1 homolog isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site and lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AI141022, AK303362, AL096768, AL708501, DA391957
      UniProtKB/TrEMBL
      D3YTJ2
      Conserved Domains (3) summary
      pfam08457
      Location:416 → 779
      Sfi1; Sfi1 spindle body protein
      pfam11235
      Location:869 → 1030
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam16181
      Location:892 → 987
      RelB_transactiv; RelB transactivation domain

    5. NM_014775.4 → NP_055590.2  protein SFI1 homolog isoform b

      See identical proteins and their annotated locations for NP_055590.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB011114, AI141022, AL096768, AL708501, BC021576
      Consensus CDS
      CCDS43005.1
      UniProtKB/TrEMBL
      D3YTJ2
      Related
      ENSP00000402679.1, ENST00000432498.5
      Conserved Domains (3) summary
      pfam08457
      Location:352 → 815
      Sfi1; Sfi1 spindle body protein
      pfam11235
      Location:932 → 1093
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam16181
      Location:955 → 1050
      RelB_transactiv; RelB transactivation domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      31496139..31618588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31960767..32082593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8K8P3.2 GenPept UniProtKB/Swiss-Prot:A8K8P3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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