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P78385

- KRT83_HUMAN

UniProt

P78385 - KRT83_HUMAN

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Protein

Keratin, type II cuticular Hb3

Gene

KRT83

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

Functioni

GO - Molecular functioni

  1. structural molecule activity Source: InterPro

GO - Biological processi

  1. aging Source: UniProt
  2. epidermis development Source: ProtInc
  3. hair cycle Source: UniProt
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: Chromosome 12

Organism-specific databases

HGNCiHGNC:6460. KRT83.

Subcellular locationi

GO - Cellular componenti

  1. extracellular space Source: UniProt
  2. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Monilethrix (MNLIX) [MIM:158000]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti407 – 4071E → K in MNLIX. 1 Publication
VAR_023052

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158000. phenotype.
Orphaneti573. Monilethrix.
PharmGKBiPA30249.

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.
ExpressionAtlasiP78385. baseline.
GenevestigatoriP78385.

Organism-specific databases

HPAiCAB004987.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Protein-protein interaction databases

BioGridi110087. 3 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. 1 Publication
VAR_023052
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.

Polymorphism databases

DMDMi218511666.

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 .
CCDSi CCDS8823.1.
RefSeqi NP_002273.3. NM_002282.3.
UniGenei Hs.720768.

3D structure databases

ProteinModelPortali P78385.
SMRi P78385. Positions 111-259, 277-417.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110087. 3 interactions.
STRINGi 9606.ENSP00000293670.

PTM databases

PhosphoSitei P78385.

Polymorphism databases

DMDMi 218511666.

Proteomic databases

MaxQBi P78385.
PaxDbi P78385.
PeptideAtlasi P78385.
PRIDEi P78385.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000293670 ; ENSP00000293670 ; ENSG00000170523 .
GeneIDi 3889.
KEGGi hsa:3889.
UCSCi uc001saf.2. human.

Organism-specific databases

CTDi 3889.
GeneCardsi GC12M052708.
H-InvDB HIX0036826.
HIX0037211.
HGNCi HGNC:6460. KRT83.
HPAi CAB004987.
MIMi 158000. phenotype.
602765. gene.
neXtProti NX_P78385.
Orphaneti 573. Monilethrix.
PharmGKBi PA30249.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149039.
GeneTreei ENSGT00760000118796.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi P78385.
KOi K07605.
OMAi CAPCNSI.
OrthoDBi EOG7B05CW.
PhylomeDBi P78385.
TreeFami TF317854.

Miscellaneous databases

GeneWikii KRT83.
GenomeRNAii 3889.
NextBioi 15267.
PROi P78385.
SOURCEi Search...

Gene expression databases

Bgeei P78385.
ExpressionAtlasi P78385. baseline.
Genevestigatori P78385.

Family and domain databases

InterProi IPR009030. Growth_fac_rcpt_N_dom.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01276. TYPE2KERATIN.
SUPFAMi SSF57184. SSF57184. 2 hits.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

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: October 29, 2014
This is version 118 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