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    BFSP1 beaded filament structural protein 1 [ Homo sapiens (human) ]

    Gene ID: 631, updated on 27-Nov-2024

    Summary

    Official Symbol
    BFSP1provided by HGNC
    Official Full Name
    beaded filament structural protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1040
    See related
    Ensembl:ENSG00000125864 MIM:603307; AllianceGenome:HGNC:1040
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CP94; CP115; LIFL-H; CTRCT33
    Summary
    This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Broad expression in testis (RPKM 2.0), thyroid (RPKM 0.9) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BFSP1 in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (17493905..17569220, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (17544579..17619878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (17474550..17549865, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372546 Neighboring gene proprotein convertase subtilisin/kexin type 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17411563-17412069 Neighboring gene NANOG hESC enhancer GRCh37_chr20:17430829-17431354 Neighboring gene dynein light chain Tctex-type 3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17485157-17485680 Neighboring gene hESC enhancers GRCh37_chr20:17511284-17511824 and GRCh37_chr20:17511825-17512364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12688 Neighboring gene RPS27A pseudogene 2 Neighboring gene MPRA-validated peak4154 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17537881-17538596 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:17549683-17550250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12690 Neighboring gene RN7SK pseudogene 69 Neighboring gene ras homolog family member G pseudogene Neighboring gene destrin, actin depolymerizing factor

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural constituent of eye lens IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermediate filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lens fiber cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    filensin
    Names
    beaded filament structural protein 1, filensin
    cytoskeletal protein, 115 KD
    lens fiber cell beaded-filament structural protein CP 115
    lens intermediate filament-like heavy

    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.

    Genomic

    1. NG_012423.2 RefSeqGene

      Range
      42842..80316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161705.2NP_001155177.1  filensin isoform 2

      See identical proteins and their annotated locations for NP_001155177.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK304673, BC041483
      Consensus CDS
      CCDS54448.1
      UniProtKB/TrEMBL
      B7Z999, B7ZAD2
      Related
      ENSP00000367099.2, ENST00000377868.6
      Conserved Domains (2) summary
      pfam00038
      Location:2188
      Filament; Intermediate filament protein
      cl26215
      Location:407473
      ChlI; Mg-chelatase subunit ChlI [Coenzyme transport and metabolism]
    2. NM_001195.5NP_001186.1  filensin isoform 1

      See identical proteins and their annotated locations for NP_001186.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AL031664, BC041483, BF727338, Y16717
      Consensus CDS
      CCDS13126.1
      UniProtKB/Swiss-Prot
      F5H0G1, O43595, O76034, O95676, Q12934, Q8IVZ6, Q9HBX4
      Related
      ENSP00000367104.3, ENST00000377873.8
      Conserved Domains (2) summary
      pfam05887
      Location:533609
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      pfam00038
      Location:44313
      Filament; Intermediate filament protein
    3. NM_001278606.2NP_001265535.1  filensin isoform 3

      See identical proteins and their annotated locations for NP_001265535.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an additional exon in the 5' UTR which results in the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3 and 5 encode the same isoform (3).
      Source sequence(s)
      AK316247, AL031664, BC041483
      Consensus CDS
      CCDS63229.1
      UniProtKB/TrEMBL
      B7Z999, B7ZAD2
      Related
      ENSP00000442522.1, ENST00000536626.7
      Conserved Domains (1) summary
      pfam00038
      Location:5174
      Filament; Intermediate filament protein
    4. NM_001278607.2NP_001265536.1  filensin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' most exon which results in the use of alternate start codon, compared to variant 1. The encoded isoform (4) has a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL031664, AL132765, BC041483, BQ230198
      UniProtKB/TrEMBL
      B7Z999, B7ZAD2
      Conserved Domains (1) summary
      pfam00038
      Location:15202
      Filament; Intermediate filament protein
    5. NM_001278608.2NP_001265537.1  filensin isoform 3

      See identical proteins and their annotated locations for NP_001265537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' structure and uses a downstream start codon, compared to isoform 1. The encodes isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform (3).
      Source sequence(s)
      AK304673, AL031664, BC041483
      Consensus CDS
      CCDS63229.1
      UniProtKB/TrEMBL
      B7Z999, B7ZAD2
      Conserved Domains (1) summary
      pfam00038
      Location:5174
      Filament; Intermediate filament protein
    6. NM_001424338.1NP_001411267.1  filensin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL031664

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      17493905..17569220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      17544579..17619878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323803.1XP_054179778.1  filensin isoform X2