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Protein

Keratin, type II cuticular Hb3

Gene

KRT83

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • aging Source: UniProtKB
  • epidermis development Source: ProtInc
  • hair cycle Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170523-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:KRT83
Synonyms:KRTHB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:6460. KRT83.

Subcellular locationi

GO - Cellular componenti

  • extracellular space Source: UniProtKB
  • keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Monilethrix (MNLIX)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder clinically characterized 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.
See also OMIM:158000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023052407E → K in MNLIX. 2 PublicationsCorresponds to variant rs57802288dbSNPEnsembl.1
Natural variantiVAR_073049418E → K in MNLIX. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3889.
MalaCardsiKRT83.
MIMi158000. phenotype.
OpenTargetsiENSG00000170523.
Orphaneti573. Monilethrix.
PharmGKBiPA30249.

Polymorphism and mutation databases

BioMutaiKRT83.
DMDMi218511666.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000636991 – 493Keratin, type II cuticular Hb3Add BLAST493

Proteomic databases

PaxDbiP78385.
PeptideAtlasiP78385.
PRIDEiP78385.

PTM databases

iPTMnetiP78385.
PhosphoSitePlusiP78385.
SwissPalmiP78385.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000170523.
GenevisibleiP78385. HS.

Organism-specific databases

HPAiCAB004987.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT31Q153235EBI-10221390,EBI-948001
KRT38O760155EBI-10221390,EBI-1047263
KRTAP10-7P604093EBI-10221390,EBI-10172290
KRTAP10-8P604103EBI-10221390,EBI-10171774
KRTAP10-9P604113EBI-10221390,EBI-10172052
NOTCH2NLQ7Z3S95EBI-10221390,EBI-945833

Protein-protein interaction databases

BioGridi110087. 10 interactors.
IntActiP78385. 21 interactors.
STRINGi9606.ENSP00000293670.

Structurei

3D structure databases

ProteinModelPortaliP78385.
SMRiP78385.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 111HeadAdd BLAST111
Regioni112 – 418RodAdd BLAST307
Regioni112 – 146Coil 1AAdd BLAST35
Regioni147 – 156Linker 110
Regioni157 – 257Coil 1BAdd BLAST101
Regioni258 – 274Linker 12Add BLAST17
Regioni275 – 418Coil 2Add BLAST144
Regioni419 – 493TailAdd BLAST75

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH1H. Eukaryota.
ENOG41113GZ. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP78385.
KOiK07605.
OMAiCAPCNSI.
OrthoDBiEOG091G06FG.
PhylomeDBiP78385.
TreeFamiTF317854.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P78385-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTCGFNSIGC GFRPGNFSCV SACGPRPSRC CITAAPYRGI SCYRGLTGGF
60 70 80 90 100
GSHSVCGGFR AGSCGRSFGY RSGGVCGPSP PCITTVSVNE SLLTPLNLEI
110 120 130 140 150
DPNAQCVKQE EKEQIKSLNS RFAAFIDKVR FLEQQNKLLE TKLQFYQNRE
160 170 180 190 200
CCQSNLEPLF AGYIETLRRE AECVEADSGR LASELNHVQE VLEGYKKKYE
210 220 230 240 250
EEVALRATAE NEFVALKKDV DCAYLRKSDL EANVEALIQE IDFLRRLYEE
260 270 280 290 300
EIRILQSHIS DTSVVVKLDN SRDLNMDCIV AEIKAQYDDI ATRSRAEAES
310 320 330 340 350
WYRSKCEEMK ATVIRHGETL RRTKEEINEL NRMIQRLTAE VENAKCQNSK
360 370 380 390 400
LEAAVAQSEQ QGEAALSDAR CKLAELEGAL QKAKQDMACL IREYQEVMNS
410 420 430 440 450
KLGLDIEIAT YRRLLEGEEQ RLCEGVEAVN VCVSSSRGGV VCGDLCVSGS
460 470 480 490
RPVTGSVCSA PCNGNLVVST GLCKPCGQLN TTCGGGSCGQ GRH
Length:493
Mass (Da):54,195
Last modified:December 16, 2008 - v2
Checksum:i73BE2DA2C93F3EB6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti67S → D in CAA67578 (PubMed:9084137).Curated1
Sequence conflicti314I → V in BAG37418 (PubMed:14702039).Curated1
Sequence conflicti473C → R in BAG37418 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018119149R → C.2 PublicationsCorresponds to variant rs2857663dbSNPEnsembl.1
Natural variantiVAR_018120279I → M.2 PublicationsCorresponds to variant rs2852464dbSNPEnsembl.1
Natural variantiVAR_023052407E → K in MNLIX. 2 PublicationsCorresponds to variant rs57802288dbSNPEnsembl.1
Natural variantiVAR_073049418E → K in MNLIX. 1 Publication1
Natural variantiVAR_018121493H → Y.3 PublicationsCorresponds to variant rs2857671dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS8823.1.
RefSeqiNP_002273.3. NM_002282.3.
UniGeneiHs.720768.

Genome annotation databases

EnsembliENST00000293670; ENSP00000293670; ENSG00000170523.
GeneIDi3889.
KEGGihsa:3889.
UCSCiuc001saf.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS8823.1.
RefSeqiNP_002273.3. NM_002282.3.
UniGeneiHs.720768.

3D structure databases

ProteinModelPortaliP78385.
SMRiP78385.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110087. 10 interactors.
IntActiP78385. 21 interactors.
STRINGi9606.ENSP00000293670.

PTM databases

iPTMnetiP78385.
PhosphoSitePlusiP78385.
SwissPalmiP78385.

Polymorphism and mutation databases

BioMutaiKRT83.
DMDMi218511666.

Proteomic databases

PaxDbiP78385.
PeptideAtlasiP78385.
PRIDEiP78385.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293670; ENSP00000293670; ENSG00000170523.
GeneIDi3889.
KEGGihsa:3889.
UCSCiuc001saf.2. human.

Organism-specific databases

CTDi3889.
DisGeNETi3889.
GeneCardsiKRT83.
H-InvDBHIX0036826.
HIX0037211.
HGNCiHGNC:6460. KRT83.
HPAiCAB004987.
MalaCardsiKRT83.
MIMi158000. phenotype.
602765. gene.
neXtProtiNX_P78385.
OpenTargetsiENSG00000170523.
Orphaneti573. Monilethrix.
PharmGKBiPA30249.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH1H. Eukaryota.
ENOG41113GZ. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP78385.
KOiK07605.
OMAiCAPCNSI.
OrthoDBiEOG091G06FG.
PhylomeDBiP78385.
TreeFamiTF317854.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170523-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GeneWikiiKRT83.
GenomeRNAii3889.
PROiP78385.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170523.
GenevisibleiP78385. HS.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKRT83_HUMAN
AccessioniPrimary (citable) accession number: P78385
Secondary accession number(s): A1A4S9
, B2RC21, Q6NT21, Q9NSB3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: December 16, 2008
Last modified: November 30, 2016
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.