P41219 (PERI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peripherin

Alternative name(s):
Neurofilament 4

Gene names

Name:	PRPH
Synonyms:	NEF4, PRPH1

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	470 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Class-III neuronal intermediate filament protein.
Sequence similarities	Belongs to the intermediate filament family.

Ontologies

Keywords
Cellular component	Intermediate filament
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
PTM	Nitration Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	intermediate filament cytoskeleton organization Inferred from electronic annotation. Source: Compara
Cellular_component	C-fiber Inferred from electronic annotation. Source: Compara intermediate filament Traceable author statement PubMed 1378416. Source: ProtInc neurofilament Inferred from electronic annotation. Source: Compara photoreceptor outer segment membrane Inferred from electronic annotation. Source: Compara
Molecular_function	structural molecule activity Non-traceable author statement PubMed 1378416. Source: ProtInc
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: P41219-1)

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: P41219-2)

The sequence of this isoform differs from the canonical sequence as follows:
     449-449: E → EQ

Note: No experimental confirmation available. Gene prediction based on similarity to orthologs.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 470	470	Peripherin		PRO_0000063779
Regions
	Region	1 – 99	99	Head
	Region	100 – 405	306	Rod
	Region	100 – 132	33	Coil 1A
	Region	133 – 143	11	Linker 1
	Region	144 – 239	96	Coil 1B
	Region	240 – 262	23	Linker 2
	Region	263 – 405	143	Coil 2
	Region	406 – 470	65	Tail
Amino acid modifications
	Modified residue	17	1	Nitrated tyrosine By similarity
	Modified residue	379	1	Nitrated tyrosine By similarity
	Modified residue	470	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	449	1	E → EQ in isoform 2.		VSP_021159
Experimental info
	Sequence conflict	68	1	G → R in AAA60190. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2006. Version 2. Checksum: 4ABEAB96088719D6	FASTA	470	53,651
	10 20 30 40 50 60 MSHHPSGLRA GFSSTSYRRT FGPPPSLSPG AFSYSSSSRF SSSRLLGSAS PSSSVRLGSF 70 80 90 100 110 120 RSPRAGAGAL LRLPSERLDF SMAEALNQEF LATRSNEKQE LQELNDRFAN FIEKVRFLEQ 130 140 150 160 170 180 QNAALRGELS QARGQEPARA DQLCQQELRE LRRELELLGR ERDRVQVERD GLAEDLAALK 190 200 210 220 230 240 QRLEEETRKR EDAEHNLVLF RKDVDDATLS RLELERKIES LMDEIEFLKK LHEEELRDLQ 250 260 270 280 290 300 VSVESQQVQQ VEVEATVKPE LTAALRDIRA QYESIAAKNL QEAEEWYKSK YADLSDAANR 310 320 330 340 350 360 NHEALRQAKQ EMNESRRQIQ SLTCEVDGLR GTNEALLRQL RELEEQFALE AGGYQAGAAR 370 380 390 400 410 420 LEEELRQLKE EMARHLREYQ ELLNVKMALD IEIATYRKLL EGEESRISVP VHSFASLNIK 430 440 450 460 470 TTVPEVEPPQ DSHSRKTVLI KTIETRNGEV VTESQKEQRS ELDKSSAHSY
	Isoform 2 [UniParc]. Checksum: 8138A4773E53D86A	FASTA	471	53,779
	10 20 30 40 50 60 MSHHPSGLRA GFSSTSYRRT FGPPPSLSPG AFSYSSSSRF SSSRLLGSAS PSSSVRLGSF 70 80 90 100 110 120 RSPRAGAGAL LRLPSERLDF SMAEALNQEF LATRSNEKQE LQELNDRFAN FIEKVRFLEQ 130 140 150 160 170 180 QNAALRGELS QARGQEPARA DQLCQQELRE LRRELELLGR ERDRVQVERD GLAEDLAALK 190 200 210 220 230 240 QRLEEETRKR EDAEHNLVLF RKDVDDATLS RLELERKIES LMDEIEFLKK LHEEELRDLQ 250 260 270 280 290 300 VSVESQQVQQ VEVEATVKPE LTAALRDIRA QYESIAAKNL QEAEEWYKSK YADLSDAANR 310 320 330 340 350 360 NHEALRQAKQ EMNESRRQIQ SLTCEVDGLR GTNEALLRQL RELEEQFALE AGGYQAGAAR 370 380 390 400 410 420 LEEELRQLKE EMARHLREYQ ELLNVKMALD IEIATYRKLL EGEESRISVP VHSFASLNIK 430 440 450 460 470 TTVPEVEPPQ DSHSRKTVLI KTIETRNGEQ VVTESQKEQR SELDKSSAHS Y

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements." Foley J., Ley C.A., Parysek L.M. Genomics 22:456-461(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2). Tissue: Placenta.
[2]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 1). Tissue: Brain.
+	Additional computationally mapped references.

Web resources

Wikipedia

Peripherin entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	L14565 Genomic DNA. Translation: AAA60190.1. AC125611 Genomic DNA. No translation available. BC032703 mRNA. Translation: AAH32703.1.
IPI	IPI00013164. IPI00793184.
PIR	A55185.
RefSeq	NP_006253.2. NM_006262.3.
UniGene	Hs.37044.
3D structure databases
ProteinModelPortal	P41219.
ModBase	Search...
Protein-protein interaction databases
IntAct	P41219. 4 interactions.
MINT	MINT-1482695.
STRING	9606.ENSP00000257860.
PTM databases
PhosphoSite	P41219.
Polymorphism databases
DMDM	118585871.
Proteomic databases
PaxDb	P41219.
PRIDE	P41219.
Protocols and materials databases
DNASU	5630.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257860; ENSP00000257860; ENSG00000135406.
GeneID	5630.
KEGG	hsa:5630.
UCSC	uc001rtu.3. human.
Organism-specific databases
CTD	5630.
GeneCards	GC12P049687.
H-InvDB	HIX0026468.
HGNC	HGNC:9461. PRPH.
HPA	CAB002437.
MIM	170710. gene.
neXtProt	NX_P41219.
Orphanet	803. Amyotrophic lateral sclerosis.
PharmGKB	PA33816.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG282699.
HOGENOM	HOG000230977.
HOVERGEN	HBG013015.
InParanoid	P41219.
KO	K07607.
OMA	VVETFLY.
OrthoDB	EOG4JWVDP.
PhylomeDB	P41219.
Gene expression databases
ArrayExpress	P41219.
Bgee	P41219.
CleanEx	HS_PRPH.
Genevestigator	P41219.
GermOnline	ENSG00000135406. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR006821. Intermed_filament_DNA-bd. IPR018039. Intermediate_filament_CS. IPR002957. Keratin_I. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit.
Pfam	PF00038. Filament. 1 hit. PF04732. Filament_head. 1 hit. [Graphical view]
PRINTS	PR01248. TYPE1KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5630.
NextBio	21882.
SOURCE	Search...

Entry information

Entry name

PERI_HUMAN

Accession

Primary (citable) accession number: P41219
Secondary accession number(s): Q8N577

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	October 31, 2006
Last modified:	May 1, 2013
This is version 118 of the entry and version 2 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.