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Protein

Keratin, type II cuticular Hb3

Gene

KRT83

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

Functioni

Miscellaneous

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

GO - Molecular functioni

GO - Biological processi

  • aging Source: UniProtKB
  • cornification Source: Reactome
  • epidermis development Source: ProtInc
  • hair cycle Source: UniProtKB
  • keratinization Source: Reactome

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000170523.3
HGNCiHGNC:6460 KRT83
MIMi602765 gene
neXtProtiNX_P78385

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs57802288EnsemblClinVar.1
Natural variantiVAR_073049418E → K in MNLIX. 1 Publication1
Erythrokeratodermia variabilis et progressiva 5 (EKVP5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive.
See also OMIM:617756

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi3889
MalaCardsiKRT83
MIMi158000 phenotype
617756 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

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki217Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbiP78385
PeptideAtlasiP78385
PRIDEiP78385
ProteomicsDBi12674
57609

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

HPAiHPA049778

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110087, 10 interactors
IntActiP78385, 41 interactors
STRINGi9606.ENSP00000293670

Structurei

3D structure databases

ProteinModelPortaliP78385
SMRiP78385
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini111 – 422IF rodPROSITE-ProRule annotationAdd BLAST312

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 111HeadAdd BLAST111
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.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH1H Eukaryota
ENOG41113GZ LUCA
GeneTreeiENSGT00910000144006
HOGENOMiHOG000230976
HOVERGENiHBG013015
InParanoidiP78385
KOiK07605
OMAiGLCKPCG
OrthoDBiEOG091G06FG
PhylomeDBiP78385
TreeFamiTF317854

Family and domain databases

InterProiView protein in InterPro
IPR009030 Growth_fac_rcpt_cys_sf
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR032444 Keratin_2_head
IPR003054 Keratin_II
PANTHERiPTHR23239 PTHR23239, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit
PRINTSiPR01276 TYPE2KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
SUPFAMiSSF57184 SSF57184, 2 hits
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

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 → C2 PublicationsCorresponds to variant dbSNP:rs2857663EnsemblClinVar.1
Natural variantiVAR_018120279I → M2 PublicationsCorresponds to variant dbSNP:rs2852464EnsemblClinVar.1
Natural variantiVAR_023052407E → K in MNLIX. 2 PublicationsCorresponds to variant dbSNP:rs57802288EnsemblClinVar.1
Natural variantiVAR_073049418E → K in MNLIX. 1 Publication1
Natural variantiVAR_018121493H → Y3 PublicationsCorresponds to variant dbSNP:rs2857671EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiKRT83_HUMAN
AccessioniPrimary (citable) accession number: P78385
Secondary accession number(s): A1A4S9
, B2RC21, Q6NT21, Q9NSB3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: December 16, 2008
Last modified: July 18, 2018
This is version 150 of the entry and version 2 of the sequence. See 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

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

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