Details for: BFSP1

Gene ID: 631

Symbol: BFSP1

Ensembl ID: ENSG00000125864

Description: beaded filament structural protein 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.45
    Marker Score: 1434
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.68
    Marker Score: 2028
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.47
    Marker Score: 466
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.44
    Marker Score: 1943
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.39
    Marker Score: 2420.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.26
    Marker Score: 2390.5
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 850
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4810
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.14
    Marker Score: 17873
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1
    Marker Score: 802
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.08
    Marker Score: 310
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 791
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.01
    Marker Score: 315
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71823
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48048
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1
    Marker Score: 2349
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.98
    Marker Score: 1996
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5283
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.88
    Marker Score: 366
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5286
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.87
    Marker Score: 225
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.8
    Marker Score: 383
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.8
    Marker Score: 258
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1257
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 705
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.77
    Marker Score: 964
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.74
    Marker Score: 446
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.72
    Marker Score: 953.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.71
    Marker Score: 1018
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.55
    Marker Score: 366
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.54
    Marker Score: 346.5
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.53
    Marker Score: 190
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.48
    Marker Score: 474
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.46
    Marker Score: 146
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.42
    Marker Score: 384
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.37
    Marker Score: 357
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.36
    Marker Score: 161
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.36
    Marker Score: 317
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.34
    Marker Score: 262
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.3
    Marker Score: 96
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.3
    Marker Score: 713
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.27
    Marker Score: 66
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.26
    Marker Score: 342
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.26
    Marker Score: 2689
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.25
    Marker Score: 160
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.25
    Marker Score: 65
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.23
    Marker Score: 228
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.22
    Marker Score: 930
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.22
    Marker Score: 94
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.21
    Marker Score: 397
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.2
    Marker Score: 64
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2
    Marker Score: 12271
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.2
    Marker Score: 246
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.19
    Marker Score: 63
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.18
    Marker Score: 66
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.18
    Marker Score: 82
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.18
    Marker Score: 548
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.18
    Marker Score: 1057
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.17
    Marker Score: 101
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.17
    Marker Score: 182
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.17
    Marker Score: 118
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.17
    Marker Score: 170
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.17
    Marker Score: 151
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.16
    Marker Score: 1412
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 95
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.15
    Marker Score: 116
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.15
    Marker Score: 623.5
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.15
    Marker Score: 62
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.15
    Marker Score: 80
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.14
    Marker Score: 64
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.14
    Marker Score: 65
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.14
    Marker Score: 311.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.14
    Marker Score: 2796
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.14
    Marker Score: 75
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.14
    Marker Score: 132
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.14
    Marker Score: 139
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.14
    Marker Score: 140
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.14
    Marker Score: 115
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.14
    Marker Score: 67
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.14
    Marker Score: 90
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.13
    Marker Score: 231
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.13
    Marker Score: 76
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.13
    Marker Score: 271.5
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.13
    Marker Score: 154
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.13
    Marker Score: 33
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.12
    Marker Score: 52
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.12
    Marker Score: 160

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Other Information

**Key characteristics:** * BFSP1 is a secreted protein that is expressed in the lens of the eye. * It is a large protein (85 kDa) that is composed of 700 amino acids. * It is a transmembrane protein that is expressed in a variety of cell types, including epithelial cells, endothelial cells, and muscle cells. * It is a key component of the lens's structural integrity and function. **Pathways and functions:** * BFSP1 is a key component of the lens's structural integrity. It helps to maintain the shape of the lens and to provide support for the lens's optical components. * It is also involved in cell signaling and cell migration. * It is involved in the development of the eye lens during embryonic development. * It is a major component of the plasma membrane of blood vessels and cells. **Clinical significance:** * Mutations in the BFSP1 gene have been linked to a number of eye disorders, including cataracts, glaucoma, and age-related macular degeneration (AMD). * These mutations can lead to the formation of holes in the lens, which can lead to vision loss. * Research on BFSP1 is therefore an important area of eye research. **Additional information:** * The gene is located on chromosome 17q21.1. * It is a member of the immunoglobulin superfamily. * It is expressed in high levels in the lens of the human eye.

Genular Protein ID: 2195563048

Symbol: BFSP1_HUMAN

Name: Filensin

UniProtKB Accession Codes:

Q12934 F5H0G1 O43595 O76034 O95676 Q8IVZ6 Q9HBX4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 3 GO 9 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 5 SAM 1 SMART 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9628810

Title: Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein.

PubMed ID: 9628810

DOI: 10.1006/exer.1998.0478

PubMed ID: 9787085

Title: Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1.

PubMed ID: 9787085

DOI: 10.1006/geno.1998.5478

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7720401

Title: Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.

PubMed ID: 7720401

DOI: 10.3109/02713689508999909

PubMed ID: 10909854

Title: An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.

PubMed ID: 10909854

DOI: 10.1038/sj.ejhg.5200485

PubMed ID: 17225135

Title: Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

PubMed ID: 17225135

DOI: 10.1007/s00439-006-0319-6

PubMed ID: 28935373

Title: Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.

PubMed ID: 28935373

DOI: 10.1016/j.bbrc.2017.09.088

PubMed ID: 28450710

Title: Targeted exome sequencing of congenital cataracts related genes: broadening the mutation spectrum and genotype-phenotype correlations in 27 Chinese Han families.

PubMed ID: 28450710

DOI: 10.1038/s41598-017-01182-9

PubMed ID: 30790544

Title: BFSP1 C-terminal domains released by post-translational processing events can alter significantly the calcium regulation of AQP0 water permeability.

PubMed ID: 30790544

DOI: 10.1016/j.exer.2019.02.001

PubMed ID: 24379646

Title: A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.

PubMed ID: 24379646

Sequence Information:

  • Length: 665
  • Mass: 74544
  • Checksum: A99FE174A8B63E9C
  • Sequence:
    • MYRRSYVFQT RKEQYEHADE ASRAAEPERP ADEGWAGATS LAALQGLGER VAAHVQRARA 
LEQRHAGLRR QLDAFQRLGE LAGPEDALAR QVESNRQRVR DLEAERARLE RQGTEAQRAL 
DEFRSKYENE CECQLLLKEM LERLNKEADE ALLHNLRLQL EAQFLQDDIS AAKDRHKKNL 
LEVQTYISIL QQIIHTTPPA SIVTSGMREE KLLTEREVAA LRSQLEEGRE VLSHLQAQRV 
ELQAQTTTLE QAIKSAHECY DDEIQLYNEQ IETLRKEIEE TERVLEKSSY DCRQLAVAQQ 
TLKNELDRYH RIIEIEGNRL TSAFIETPIP LFTQSHGVSL STGSGGKDLT RALQDITAAK 
PRQKALPKNV PRRKEIITKD KTNGALEDAP LKGLEDTKLV QVVLKEESES KFESESKEVS 
PLTQEGAPED VPDGGQISKG FGKLYRKVKE KVRSPKEPET PTELYTKERH VLVTGDANYV 
DPRFYVSSIT AKGGVAVSVA EDSVLYDGQV EPSPESPKPP LENGQVGLQE KEDGQPIDQQ 
PIDKEIEPDG AELEGPEEKR EGEERDEESR RPCAMVTPGA EEPSIPEPPK PAADQDGAEV 
LGTRSRSLPE KGPPKALAYK TVEVVESIEK ISTESIQTYE ETAVIVETMI GKTKSDKKKS 
GEKSS

Genular Protein ID: 3361931094

Symbol: B7ZAD2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZAD2

Database IDs:

ARBA 14 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 4 Gene3D 1 GenomeRNAi 1 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 RefSeq 1 SAM 2

Sequence Information:

  • Length: 526
  • Mass: 58570
  • Checksum: 59DCAA14840E2033
  • Sequence:
    • MLERLNKEAD EALLHNLRLQ LEAQFLQDDI SAAKDRHKKN LLEVQTYISI LQQIIHTTPP 
ASIVTSGMRE EKLLTEREVA ALRSQLEEGR EVLSHLQAQR VELQAQTTTL EQAIKSAHEC 
YDDEIQLYNE QIETLRKEIE ETERVLEKSS YDCRQLAVAQ QTLKNELDRY HRIIEIEGNR 
LTSAFIETPI PLFTQSHGVS LSTGSGGKDL TRALQDITAA KPRQKALPKN VPRRKEIITK 
DKTNGALEDA PLKGLEDTEL VQVVLKEESE SKFESESKEV SPLTQEGAPE DVPDGGQISK 
GFGKLYRKVK EKVRSPKEPE TPTELYTKER HVLVTGDANY VDPRFYVSSI TAKGGVAVSV 
AEDSVLYDGQ VEPSPESPKP PLENGQVGLQ EKEDGQPIDQ QPIDKEIEPD GAELEGPEEK 
REGEERDEES RRPCAMVTPG AEEPSIPEPP KPAADQDGAE VLGTRSRSLP EKGPPKALAY 
KTVEVVESIE KISTESIQTY EETAVIVETM IGKTKSDKKK SGEKSS

Genular Protein ID: 2794082462

Symbol: B7Z999_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z999

Database IDs:

ARBA 14 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 4 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 PharmGKB 1 RefSeq 2 SAM 2

Sequence Information:

  • Length: 526
  • Mass: 58587
  • Checksum: 58857CD7D0233D99
  • Sequence:
    • MLERLNKEAD EALLHNLRLQ LEAQFLQDDI SAAKDRHKKN LLEVQTYISI LQQIIHTTPP 
ASIVTSGMRE EKLLTEREVA ALRSQLEEGR EVLSHLQAQR VELQAQTTTL EQAIKSAHEC 
YDDEIQLYNE QIETLRKEIE ETERVLEKSS YDCRQLAVAQ QTLKNELDRY HRIIEIEGNR 
LTSAFIETPI PLFTQSHGVS LSTGSGGKDL TRALQDMTAA KPRQKALPKN VPRRKEIITK 
DKTNGALEDA PLKGLEDTKL VQVVLKEESE SKFESESKEV SPLTQEGAPE DVPDGGQISK 
GFGKLYRKVK EKVRSPKEPE TPTELYTKER HVLVTGDANY VDPRFYVSSI TAKGGVAVSV 
AEDSVLYDGQ VEPSPESPKP PLENGQVGLQ EKEDGQPIDQ QPIDKEIEPD GAELEGPEEK 
REGEERDEES RRPCAMVTPG AEEPSIPEPP KPAADQDGAE VLGTRSRSLP EKGPPKALAY 
KTVEVVESIE KISTESIQTY EETAVIVETM IGKTKSDKKK SGEKSS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.