Details for: BFSP1
Associated with
Other Information
Genular Protein ID: 2195563048
Symbol: BFSP1_HUMAN
Name: Filensin
UniProtKB Accession Codes:
Database IDs:
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
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
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
PubMed ID: 10909854
Title: An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
PubMed ID: 10909854
PubMed ID: 17225135
Title: Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
PubMed ID: 17225135
PubMed ID: 28935373
Title: Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.
PubMed ID: 28935373
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
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
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:
Database IDs:
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:
Database IDs:
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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.