Q12934 (BFSP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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.
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 cataract cortical juvenile-onset (CCJO) [MIM:611391]. A juvenile-onset cataract with opacities restricted to the cortex of the lens, not involving the nucleus. Ref.7
Sequence similarities	Belongs to the intermediate filament family.
Sequence caution	The sequence CAA76349.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton Intermediate filament Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cataract
Domain	Coiled coil Repeat
Molecular function	Eye lens protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	actin cytoskeleton Inferred from direct assay. Source: HPA intermediate filament Traceable author statement. Source: ProtInc mitochondrion Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA
Molecular function	structural constituent of cytoskeleton Traceable author statement. Source: ProtInc structural constituent of eye lens Inferred from electronic annotation. Source: UniProtKB-KW
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

Note: 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. Corresponds to variant rs6080719 [ dbSNP | Ensembl ].		VAR_024492
	Natural variant	656	1	D → E. Corresponds to variant rs16999317 [ dbSNP | Ensembl ].		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	FASTA	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 CCJO.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00030282. IPI00643064.
PIR	I38730.
RefSeq	NP_001155177.1. NM_001161705.1. NP_001186.1. NM_001195.3.
UniGene	Hs.129702.
3D structure databases
ProteinModelPortal	Q12934.
SMR	Q12934. Positions 38-75, 79-186.
ModBase	Search...
Protein-protein interaction databases
STRING	Q12934.
PTM databases
PhosphoSite	Q12934.
Polymorphism databases
DMDM	17372543.
Proteomic databases
PeptideAtlas	Q12934.
PRIDE	Q12934.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377873; ENSP00000367104; ENSG00000125864.
GeneID	631.
KEGG	hsa:631.
UCSC	uc002wpo.1. human. uc002wpp.1. human.
Organism-specific databases
CTD	631.
GeneCards	GC20M017422.
HGNC	HGNC:1040. BFSP1.
HPA	HPA040748. HPA042038.
MIM	603307. gene. 611391. phenotype.
neXtProt	NX_Q12934.
Orphanet	217046. Childhood-onset cortical cataract.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06073.
GeneTree	ENSGT00390000016976.
HOGENOM	HBG447343.
HOVERGEN	HBG050684.
InParanoid	Q12934.
OMA	DGGQISK.
OrthoDB	EOG4MCX00.
PhylomeDB	Q12934.
Gene expression databases
ArrayExpress	Q12934.
Bgee	Q12934.
CleanEx	HS_BFSP1.
Genevestigator	Q12934.
GermOnline	ENSG00000125864. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. [Graphical view]
KO	K10378.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PROSITE	PS00226. IF. False negative. [Graphical view]
ProtoNet	Search...
Other
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:	January 25, 2012
This is version 106 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.