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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...

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
ProteomesiUP000005640 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti407 – 4071E → K in MNLIX. 2 Publications
VAR_023052
Natural varianti418 – 4181E → K in MNLIX. 1 Publication
VAR_073049

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158000. phenotype.
Orphaneti573. Monilethrix.
PharmGKBiPA30249.

Polymorphism and mutation databases

BioMutaiKRT83.
DMDMi218511666.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 493493Keratin, type II cuticular Hb3PRO_0000063699Add
BLAST

Proteomic databases

MaxQBiP78385.
PaxDbiP78385.
PeptideAtlasiP78385.
PRIDEiP78385.

PTM databases

PhosphoSiteiP78385.

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

BgeeiP78385.
GenevisibleiP78385. HS.

Organism-specific databases

HPAiCAB004987.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT31Q153233EBI-10221390,EBI-948001
KRT38O760153EBI-10221390,EBI-1047263
KRTAP10-7P604093EBI-10221390,EBI-10172290
KRTAP10-8P604103EBI-10221390,EBI-10171774
KRTAP10-9P604113EBI-10221390,EBI-10172052
NOTCH2NLQ7Z3S93EBI-10221390,EBI-945833

Protein-protein interaction databases

BioGridi110087. 9 interactions.
IntActiP78385. 6 interactions.
STRINGi9606.ENSP00000293670.

Structurei

3D structure databases

ProteinModelPortaliP78385.
SMRiP78385. Positions 111-259, 277-417.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 111111HeadAdd
BLAST
Regioni112 – 418307RodAdd
BLAST
Regioni112 – 14635Coil 1AAdd
BLAST
Regioni147 – 15610Linker 1
Regioni157 – 257101Coil 1BAdd
BLAST
Regioni258 – 27417Linker 12Add
BLAST
Regioni275 – 418144Coil 2Add
BLAST
Regioni419 – 49375TailAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG149039.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP78385.
KOiK07605.
OMAiCAPCNSI.
OrthoDBiEOG7B05CW.
PhylomeDBiP78385.
TreeFamiTF317854.

Family and domain databases

InterProiIPR009030. Growth_fac_rcpt_N_dom.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti67 – 671S → D in CAA67578 (PubMed:9084137).Curated
Sequence conflicti314 – 3141I → V in BAG37418 (PubMed:14702039).Curated
Sequence conflicti473 – 4731C → R in BAG37418 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti149 – 1491R → C.2 Publications
Corresponds to variant rs2857663 [ dbSNP | Ensembl ].
VAR_018119
Natural varianti279 – 2791I → M.2 Publications
Corresponds to variant rs2852464 [ dbSNP | Ensembl ].
VAR_018120
Natural varianti407 – 4071E → K in MNLIX. 2 Publications
VAR_023052
Natural varianti418 – 4181E → K in MNLIX. 1 Publication
VAR_073049
Natural varianti493 – 4931H → Y.3 Publications
Corresponds to variant rs2857671 [ dbSNP | Ensembl ].
VAR_018121

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. Positions 111-259, 277-417.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110087. 9 interactions.
IntActiP78385. 6 interactions.
STRINGi9606.ENSP00000293670.

PTM databases

PhosphoSiteiP78385.

Polymorphism and mutation databases

BioMutaiKRT83.
DMDMi218511666.

Proteomic databases

MaxQBiP78385.
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.
GeneCardsiGC12M052708.
H-InvDBHIX0036826.
HIX0037211.
HGNCiHGNC:6460. KRT83.
HPAiCAB004987.
MIMi158000. phenotype.
602765. gene.
neXtProtiNX_P78385.
Orphaneti573. Monilethrix.
PharmGKBiPA30249.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG149039.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP78385.
KOiK07605.
OMAiCAPCNSI.
OrthoDBiEOG7B05CW.
PhylomeDBiP78385.
TreeFamiTF317854.

Miscellaneous databases

GeneWikiiKRT83.
GenomeRNAii3889.
NextBioi15267.
PROiP78385.
SOURCEiSearch...

Gene expression databases

BgeeiP78385.
GenevisibleiP78385. HS.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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.
    , 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 MNLIX LYS-407.
  6. Cited for: VARIANTS MNLIX LYS-407 AND LYS-418.

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: July 22, 2015
This is version 125 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

External Data

Dasty 3

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 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.