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

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix.
Title: Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix.
The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin.
Title: Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.
A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family.
Title: A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency.
Title: Molecular and structural analysis of genetic variations in congenital cataract.
This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts.
Title: Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

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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

Associated conditions

Description	Tests
Cataract 33 MedGen: C3808107 OMIM: 611391 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

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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

NG_012423.2 RefSeqGene

Range

42842..80316

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161705.2 → NP_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:2 → 188

Filament; Intermediate filament protein

cl26215
Location:407 → 473

ChlI; Mg-chelatase subunit ChlI [Coenzyme transport and metabolism]
NM_001195.5 → NP_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:533 → 609

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

pfam00038
Location:44 → 313

Filament; Intermediate filament protein
NM_001278606.2 → NP_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:5 → 174

Filament; Intermediate filament protein
NM_001278607.2 → NP_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:15 → 202

Filament; Intermediate filament protein
NM_001278608.2 → NP_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:5 → 174

Filament; Intermediate filament protein
NM_001424338.1 → NP_001411267.1 filensin isoform 5

Status: REVIEWED

Source sequence(s)

AL031664