Q13515 (BFSP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Phakinin

Alternative name(s):
49 kDa cytoskeletal protein
Beaded filament structural protein 2
Lens fiber cell beaded filament protein CP 47
Short name=CP47
Lens fiber cell beaded filament protein CP 49
Short name=CP49
Lens intermediate filament-like light
Short name=LIFL-L

Gene names

Name:

BFSP2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	415 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in stabilization of lens fiber cell cytoskeleton By similarity.
Subunit structure	Associates with BFSP1. Interacts with LGSN.
Subcellular location	Membrane. Cytoplasm. Cytoplasm › cytoskeleton. Note: Membrane- and cytoskeleton-associated.
Tissue specificity	Lens.
Involvement in disease	Cataract autosomal dominant, multiple types 1 (ADC-MT1) [MIM:611597]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4
Sequence similarities	Belongs to the intermediate filament family.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cytoplasm Cytoskeleton Intermediate filament Membrane
Disease	Cataract Disease mutation
Domain	Coiled coil Repeat
Molecular function	Eye lens protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell maturation Inferred from electronic annotation. Source: Compara intermediate filament cytoskeleton organization Inferred from electronic annotation. Source: Compara lens fiber cell development Inferred from electronic annotation. Source: Compara response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA intermediate filament Traceable author statement PubMed 9628810. Source: ProtInc plasma membrane Inferred from direct assay. Source: HPA
Molecular_function	structural constituent of cytoskeleton Traceable author statement PubMed 9628810. Source: ProtInc structural constituent of eye lens Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 415	415	Phakinin		PRO_0000063851
Regions
	Region	1 – 114	114	Head
	Region	115 – 395	281	Rod
	Region	396 – 415	20	Tail
	Coiled coil	115 – 144	30	Potential
	Coiled coil	199 – 253	55	Potential
	Coiled coil	309 – 400	92	Potential
Natural variations
	Natural variant	233	1	Missing in ADC-MT1; congenital. Ref.3		VAR_012163
	Natural variant	287	1	R → W in ADC-MT1; juvenile-onset. Ref.4		VAR_012164

Sequences

	Sequence		Length	Mass (Da)
	Q13515 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 4CB899386D443FEA	FASTA	415	45,880
	10 20 30 40 50 60 MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL VRAPGVYVGT 70 80 90 100 110 120 APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG LERDHGAVED LGGCLVEYMA 130 140 150 160 170 180 KVHALEQVSQ ELETQLRMHL ESKATRSGNW GALRASWASS CQQVGEAVLE NARLMLQTET 190 200 210 220 230 240 IQAGADDFKE RYENEQPFRK AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN 250 260 270 280 290 300 YEEDVKLLHK QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA 310 320 330 340 350 360 EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH DAKHWHDMEL 370 380 390 400 410 QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK DVASYHALLD REESG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein." Hess J.F., Casselman J.T., FitzGerald P.G. J. Biol. Chem. 271:6729-6735(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Lens.
[2]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2." Jakobs P.M., Hess J.F., FitzGerald P.G., Kramer P., Weleber R.G., Litt M. Am. J. Hum. Genet. 66:1432-1436(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 164-415, VARIANT ADC-MT1 GLU-233 DEL.
[4]	"A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2." Conley Y.P., Erturk D., Keverline A., Mah T.S., Keravala A., Barnes L.R., Bruchis A., Hess J.F., FitzGerald P.G., Weeks D.E., Ferrell R.E., Gorin M.B. Am. J. Hum. Genet. 66:1426-1431(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ADC-MT1 TRP-287.
+	Additional computationally mapped references.

Web resources

Human Intermediate Filament Mutation Database

Cross-references

Sequence databases
EMBL GenBank DDBJ	U48224 mRNA. Translation: AAC50414.1. BC113518 mRNA. Translation: AAI13519.1. BC113520 mRNA. Translation: AAI13521.1. AF195044 Genomic DNA. Translation: AAG30728.1.
IPI	IPI00299007.
RefSeq	NP_003562.1. NM_003571.2.
UniGene	Hs.659862.
3D structure databases
ProteinModelPortal	Q13515.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000304987.
PTM databases
PhosphoSite	Q13515.
Polymorphism databases
DMDM	17366451.
Proteomic databases
PaxDb	Q13515.
PeptideAtlas	Q13515.
PRIDE	Q13515.
Protocols and materials databases
DNASU	8419.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302334; ENSP00000304987; ENSG00000170819.
GeneID	8419.
KEGG	hsa:8419.
UCSC	uc003epn.1. human.
Organism-specific databases
CTD	8419.
GeneCards	GC03P133118.
HGNC	HGNC:1041. BFSP2.
HPA	HPA038464.
MIM	603212. gene. 611597. phenotype.
neXtProt	NX_Q13515.
Orphanet	98992. Partial congenital cataract.
PharmGKB	PA25344.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG148080.
HOGENOM	HOG000230975.
HOVERGEN	HBG013015.
InParanoid	Q13515.
KO	K10379.
OMA	RMHLESK.
OrthoDB	EOG44MXS4.
PhylomeDB	Q13515.
Gene expression databases
Bgee	Q13515.
CleanEx	HS_BFSP2.
Genevestigator	Q13515.
GermOnline	ENSG00000170819. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR002957. Keratin_I. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01248. TYPE1KERATIN.
PROSITE	PS00226. IF. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8419.
NextBio	31511.
SOURCE	Search...

Entry information

Entry name

BFSP2_HUMAN

Accession

Primary (citable) accession number: Q13515
Secondary accession number(s): Q14D32, Q9HBW5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 111 of the entry and version 1 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.