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P78385 (KRT83_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin, type II cuticular Hb3
Alternative name(s):
Hair keratin K2.10
Keratin-83
Short name=K83
Type II hair keratin Hb3
Type-II keratin Kb23
Gene names
Name:KRT83
Synonyms:KRTHB3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length493 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterotetramer of two type I and two type II keratins.

Tissue specificity

Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex. Ref.1

Involvement in disease

Monilethrix (MLTRX) [MIM:158000]: Autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Miscellaneous

There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

Sequence similarities

Belongs to the intermediate filament family.

Ontologies

Keywords
   Cellular componentIntermediate filament
Keratin
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processepidermis development

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentextracellular space

Inferred from direct assay PubMed 23580065. Source: UniProt

keratin filament

Inferred from electronic annotation. Source: InterPro

   Molecular_functionstructural molecule activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 493493Keratin, type II cuticular Hb3
PRO_0000063699

Regions

Region1 – 111111Head
Region112 – 418307Rod
Region112 – 14635Coil 1A
Region147 – 15610Linker 1
Region157 – 257101Coil 1B
Region258 – 27417Linker 12
Region275 – 418144Coil 2
Region419 – 49375Tail

Natural variations

Natural variant1491R → C. Ref.1 Ref.4
Corresponds to variant rs2857663 [ dbSNP | Ensembl ].
VAR_018119
Natural variant2791I → M. Ref.1 Ref.4
Corresponds to variant rs2852464 [ dbSNP | Ensembl ].
VAR_018120
Natural variant4071E → K in MLTRX. Ref.5
VAR_023052
Natural variant4931H → Y. Ref.1 Ref.3 Ref.4
Corresponds to variant rs2857671 [ dbSNP | Ensembl ].
VAR_018121

Experimental info

Sequence conflict671S → D in CAA67578. Ref.1
Sequence conflict3141I → V in BAG37418. Ref.3
Sequence conflict4731C → R in BAG37418. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P78385 [UniParc].

Last modified December 16, 2008. Version 2.
Checksum: 73BE2DA2C93F3EB6

FASTA49354,195
        10         20         30         40         50         60 
MTCGFNSIGC GFRPGNFSCV SACGPRPSRC CITAAPYRGI SCYRGLTGGF GSHSVCGGFR 

        70         80         90        100        110        120 
AGSCGRSFGY RSGGVCGPSP PCITTVSVNE SLLTPLNLEI DPNAQCVKQE EKEQIKSLNS 

       130        140        150        160        170        180 
RFAAFIDKVR FLEQQNKLLE TKLQFYQNRE CCQSNLEPLF AGYIETLRRE AECVEADSGR 

       190        200        210        220        230        240 
LASELNHVQE VLEGYKKKYE EEVALRATAE NEFVALKKDV DCAYLRKSDL EANVEALIQE 

       250        260        270        280        290        300 
IDFLRRLYEE EIRILQSHIS DTSVVVKLDN SRDLNMDCIV AEIKAQYDDI ATRSRAEAES 

       310        320        330        340        350        360 
WYRSKCEEMK ATVIRHGETL RRTKEEINEL NRMIQRLTAE VENAKCQNSK LEAAVAQSEQ 

       370        380        390        400        410        420 
QGEAALSDAR CKLAELEGAL QKAKQDMACL IREYQEVMNS KLGLDIEIAT YRRLLEGEEQ 

       430        440        450        460        470        480 
RLCEGVEAVN VCVSSSRGGV VCGDLCVSGS RPVTGSVCSA PCNGNLVVST GLCKPCGQLN 

       490 
TTCGGGSCGQ GRH 

« Hide

References

« Hide 'large scale' references
[1]"Sequences and differential expression of three novel human type-II hair keratins."
Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J.
Differentiation 61:187-194(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS CYS-149; MET-279 AND TYR-493.
Tissue: Scalp.
[2]"Characterization of a 300 kbp region of human DNA containing the type II hair keratin."
Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J.
J. Invest. Dermatol. 114:464-472(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT TYR-493.
Tissue: Cerebellum.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS CYS-149; MET-279 AND TYR-493.
[5]"A missense mutation in the type II hair keratin hHb3 is associated with monilethrix."
van Steensel M.A., Steijlen P.M., Bladergroen R.S., Vermeer M., van Geel M.
J. Med. Genet. 42:E19-E19(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MLTRX LYS-407.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X99141 mRNA. Translation: CAA67578.1.
Y19208 Genomic DNA. Translation: CAB76828.1.
AK314904 mRNA. Translation: BAG37418.1.
BC069546 mRNA. Translation: AAH69546.1.
BC128063 mRNA. Translation: AAI28064.1.
RefSeqNP_002273.3. NM_002282.3.
UniGeneHs.720768.

3D structure databases

ProteinModelPortalP78385.
SMRP78385. Positions 110-259, 277-417.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110087. 3 interactions.
STRING9606.ENSP00000293670.

PTM databases

PhosphoSiteP78385.

Polymorphism databases

DMDM218511666.

Proteomic databases

PaxDbP78385.
PeptideAtlasP78385.
PRIDEP78385.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293670; ENSP00000293670; ENSG00000170523.
GeneID3889.
KEGGhsa:3889.
UCSCuc001saf.2. human.

Organism-specific databases

CTD3889.
GeneCardsGC12M052708.
H-InvDBHIX0036826.
HIX0037211.
HGNCHGNC:6460. KRT83.
HPACAB004987.
MIM158000. phenotype.
602765. gene.
neXtProtNX_P78385.
Orphanet573. Monilethrix.
PharmGKBPA30249.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149039.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidP78385.
KOK07605.
OMACAPCNSI.
OrthoDBEOG7B05CW.
PhylomeDBP78385.
TreeFamTF317854.

Gene expression databases

ArrayExpressP78385.
BgeeP78385.
GenevestigatorP78385.

Family and domain databases

InterProIPR009030. Growth_fac_rcpt_N_dom.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01276. TYPE2KERATIN.
SUPFAMSSF57184. SSF57184. 2 hits.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKRT83.
GenomeRNAi3889.
NextBio15267.
PROP78385.
SOURCESearch...

Entry information

Entry nameKRT83_HUMAN
AccessionPrimary (citable) accession number: P78385
Secondary accession number(s): A1A4S9 expand/collapse secondary AC list , B2RC21, Q6NT21, Q9NSB3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: December 16, 2008
Last modified: March 19, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM