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

Gene ID: 631, updated on 1-Jun-2020

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
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

Genomic context

See BFSP1 in Genome Data Viewer
Location:
20p12.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (17493905..17569220, complement)
105 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 dynein light chain Tctex-type 3 pseudogene 1 Neighboring gene RPS27A pseudogene 2 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
structural constituent of eye lens IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
lens fiber cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
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)

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/Swiss-Prot
    Q12934
    UniProtKB/TrEMBL
    B7Z999
    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
    Q12934
    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/Swiss-Prot
    Q12934
    UniProtKB/TrEMBL
    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/Swiss-Prot
    Q12934
    Conserved Domains (1) summary
    pfam00038
    Location:15202
    Filament; Intermediate filament protein
  5. NM_001278608.1NP_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/Swiss-Prot
    Q12934
    UniProtKB/TrEMBL
    B7Z999
    Conserved Domains (1) summary
    pfam00038
    Location:5174
    Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017028005.2XP_016883494.1  filensin isoform X1

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