Reviewed, UniProtKB/Swiss-Prot Q12934 (BFSP1_HUMAN)

Names and origin

Protein names

Recommended name:
    Filensin
Alternative name(s):
    Beaded filament structural protein 1
    Lens fiber cell beaded-filament structural protein CP 115
      Short name=CP115
    Lens intermediate filament-like heavy
      Short name=LIFL-H

Gene names

Name:

BFSP1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	665 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	Associates with BFSP2.
Subcellular location	Membrane. Cytoplasm. Cytoplasm › cytoskeleton. Note= Membrane- and cytoskeleton-associated.
Tissue specificity	Lens.
Involvement in disease	Defects in BFSP1 are the cause of autosomal recessive cortical juvenile-onset cataract [MIM:611391]. Cataract is the most frequent cause of visual impairment and blindness worldwide. While congenital cataracts are less frequent than age related cataracts, if not treated promptly they can result in irreversible neural blindness. The frequency of non-syndromic congenital cataract is estimated to be 1-6 cases per 10'000 children with one additional case being diagnosed during childhood. Developmental or juvenile onset cataract is distinguished from congenital cataract by initial clarity of the lens at birth and development of opacities progressively with maturation during childhood or adolescence. Approximately 25% of non-syndromic cataracts are inherited, and they are phenotypically and genetically heterogeneous, with autosomal dominant generally considered to be more common than autosomal recessive and X-linked inheritance.
Sequence similarities	Belongs to the intermediate filament family.
Sequence caution	The sequence CAA76348.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton Eye lens protein Intermediate filament Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cataract
Domain	Coiled coil Repeat
PTM	Phosphoprotein
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW intermediate filament Ref.1 Non-traceable author statement. Source: UniProtKB membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	protein binding Non-traceable author statement. Source: UniProtKB structural constituent of cytoskeleton Ref.1 Traceable author statement. Source: ProtInc structural constituent of eye lens Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q12934-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q12934-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.
     126-126: K → M

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 665	665	Filensin		PRO_0000063847
Regions
	Region	1 – 40	40	Head
	Region	41 – 320	280	Rod
	Region	41 – 75	35	Coil 1A
	Region	76 – 84	9	Linker 1
	Region	85 – 184	100	Coil 1B
	Region	185 – 201	17	Linker 12
	Region	202 – 320	119	Coil 2
	Region	321 – 665	345	Tail
Amino acid modifications
	Modified residue	5	1	Phosphoserine; by PKA Potential
Natural variations
	Alternative sequence	1 – 125	125	Missing in isoform 2.		VSP_024921
	Alternative sequence	126	1	K → M in isoform 2.		VSP_024922
	Natural variant	345	1	G → S: dbSNP rs6080719.		VAR_024492
	Natural variant	656	1	D → E: dbSNP rs16999317.		VAR_036683
Experimental info
	Sequence conflict	96	1	R → P in AAG17186. Ref.6
	Sequence conflict	176 – 177	2	HK → TR in AAA74423. Ref.5
	Sequence conflict	248	1	T → A in AAA74423. Ref.5
	Sequence conflict	398	1	K → R in AAB94939. Ref.1
	Sequence conflict	568	1	E → G in AAB94939. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 26, 2001. Version 3. Checksum: A99FE174A8B63E9C	FASTA	665	74,544
	10 20 30 40 50 60 MYRRSYVFQT RKEQYEHADE ASRAAEPERP ADEGWAGATS LAALQGLGER VAAHVQRARA 70 80 90 100 110 120 LEQRHAGLRR QLDAFQRLGE LAGPEDALAR QVESNRQRVR DLEAERARLE RQGTEAQRAL 130 140 150 160 170 180 DEFRSKYENE CECQLLLKEM LERLNKEADE ALLHNLRLQL EAQFLQDDIS AAKDRHKKNL 190 200 210 220 230 240 LEVQTYISIL QQIIHTTPPA SIVTSGMREE KLLTEREVAA LRSQLEEGRE VLSHLQAQRV 250 260 270 280 290 300 ELQAQTTTLE QAIKSAHECY DDEIQLYNEQ IETLRKEIEE TERVLEKSSY DCRQLAVAQQ 310 320 330 340 350 360 TLKNELDRYH RIIEIEGNRL TSAFIETPIP LFTQSHGVSL STGSGGKDLT RALQDITAAK 370 380 390 400 410 420 PRQKALPKNV PRRKEIITKD KTNGALEDAP LKGLEDTKLV QVVLKEESES KFESESKEVS 430 440 450 460 470 480 PLTQEGAPED VPDGGQISKG FGKLYRKVKE KVRSPKEPET PTELYTKERH VLVTGDANYV 490 500 510 520 530 540 DPRFYVSSIT AKGGVAVSVA EDSVLYDGQV EPSPESPKPP LENGQVGLQE KEDGQPIDQQ 550 560 570 580 590 600 PIDKEIEPDG AELEGPEEKR EGEERDEESR RPCAMVTPGA EEPSIPEPPK PAADQDGAEV 610 620 630 640 650 660 LGTRSRSLPE KGPPKALAYK TVEVVESIEK ISTESIQTYE ETAVIVETMI GKTKSDKKKS GEKSS
	Isoform 2 [UniParc]. Checksum: FB65B543A8A2A41B		540	60,296
	10 20 30 40 50 60 MYENECECQL LLKEMLERLN KEADEALLHN LRLQLEAQFL QDDISAAKDR HKKNLLEVQT 70 80 90 100 110 120 YISILQQIIH TTPPASIVTS GMREEKLLTE REVAALRSQL EEGREVLSHL QAQRVELQAQ 130 140 150 160 170 180 TTTLEQAIKS AHECYDDEIQ LYNEQIETLR KEIEETERVL EKSSYDCRQL AVAQQTLKNE 190 200 210 220 230 240 LDRYHRIIEI EGNRLTSAFI ETPIPLFTQS HGVSLSTGSG GKDLTRALQD ITAAKPRQKA 250 260 270 280 290 300 LPKNVPRRKE IITKDKTNGA LEDAPLKGLE DTKLVQVVLK EESESKFESE SKEVSPLTQE 310 320 330 340 350 360 GAPEDVPDGG QISKGFGKLY RKVKEKVRSP KEPETPTELY TKERHVLVTG DANYVDPRFY 370 380 390 400 410 420 VSSITAKGGV AVSVAEDSVL YDGQVEPSPE SPKPPLENGQ VGLQEKEDGQ PIDQQPIDKE 430 440 450 460 470 480 IEPDGAELEG PEEKREGEER DEESRRPCAM VTPGAEEPSI PEPPKPAADQ DGAEVLGTRS 490 500 510 520 530 540 RSLPEKGPPK ALAYKTVEVV ESIEKISTES IQTYEETAVI VETMIGKTKS DKKKSGEKSS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Hess J.F., Casselman J.T., Kong A.P., FitzGerald P.G. Exp. Eye Res. 66:625-644(1998) [PubMed: 9628810] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1." Rendtorff N.D., Hansen C., Silahtaroglu A., Henriksen K.F., Tommerup N. Genomics 53:114-116(1998) [PubMed: 9787085] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[3]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Mammary gland.
[5]	"Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47." Hess J.F., Casselman J.T., FitzGerald P.G. Curr. Eye Res. 14:11-18(1995) [PubMed: 7720401] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 120-249. Tissue: Lens.
[6]	"An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12." Yamada K., Tomita H., Yoshiura K., Kondo S., Wakui K., Fukushima Y., Ikegawa S., Nakamura Y., Amemiya T., Niikawa N. Eur. J. Hum. Genet. 8:535-539(2000) [PubMed: 10909854] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-178.
[7]	"Autosomal recessive juvenile onset cataract associated with mutation in BFSP1." Ramachandran R.D., Perumalsamy V., Hejtmancik J.F. Hum. Genet. 121:475-482(2007) [PubMed: 17225135] [Abstract] Cited for: INVOLVEMENT IN CORTICAL JUVENILE-ONSET CATARACT.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF039655 mRNA. Translation: AAB94939.1. Y16717 mRNA. Translation: CAA76348.1. Y16718 , Y16719, Y16720, Y16722, Y16723, Y16721 Genomic DNA. Translation: CAA76349.1. Sequence problems. AL031664 Genomic DNA. Translation: CAB89430.1. AL031664, AL132765 Genomic DNA. Translation: CAI21689.1. AL132765, AL031664 Genomic DNA. Translation: CAH74032.1. BC041483 mRNA. Translation: AAH41483.1. U12622 mRNA. Translation: AAA74423.1. AF191047, AF191045, AF191046 Genomic DNA. Translation: AAG17186.1.
PIR	I38730.
RefSeq	NP_001186.1.
UniGene	Hs.129702
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q12934.
Proteomic databases
PeptideAtlas	Q12934.
Genome annotation databases
Ensembl	ENSG00000125864. Homo sapiens. [Contig view]
GeneID	631.
KEGG	hsa:631.
Organism-specific databases
H-InvDB	HIX0027660.
HGNC	HGNC:1040. BFSP1.
MIM	603307. gene. 611391. phenotype.
Orphanet	91492. Cataract, congenital, non-syndromic. 98992. Cataract, congenital, partial.
PharmGKB	PA25343.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q12934.
HOVERGEN	Q12934.
Gene expression databases
ArrayExpress	Q12934.
CleanEx	HS_BFSP1.
GermOnline	ENSG00000125864. Homo sapiens.
Family and domain databases
InterPro	IPR001664. IF. [Graphical view]
PROSITE	PS00226. IF. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	2550.
SOURCE	Search...

Entry information

Entry name

BFSP1_HUMAN

Accession

Primary (citable) accession number: Q12934
Secondary accession number(s): O43595 , O76034, O95676, Q8IVZ6, Q9HBX4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	September 26, 2001
Last modified:	November 25, 2008
This is version 75 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)