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Protein

Keratin, type II cuticular Hb1

Gene

KRT81

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

Functioni

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33346-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cuticular Hb1
Alternative name(s):
Hair keratin K2.9
Keratin, hair, basic, 1
Keratin-81
Short name:
K81
Metastatic lymph node 137 gene protein
Short name:
MLN 137
Type II hair keratin Hb1
Type-II keratin Kb21
ghHKb1
Short name:
ghHb1
Gene namesi
Name:KRT81
Synonyms:KRTHB1, MLN137
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:6458. KRT81.

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)3 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_018116402E → K in MNLIX. 1 PublicationCorresponds to variant rs56821304dbSNPEnsembl.1
Natural variantiVAR_073048408R → C in MNLIX. 1 PublicationCorresponds to variant rs771393943dbSNPEnsembl.1
Natural variantiVAR_018117413E → K in MNLIX. 1 PublicationCorresponds to variant rs57419521dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3887.
MalaCardsiKRT81.
MIMi158000. phenotype.
OpenTargetsiENSG00000205426.
Orphaneti573. Monilethrix.
PharmGKBiPA30247.

Polymorphism and mutation databases

BioMutaiKRT81.
DMDMi311033435.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000636961 – 505Keratin, type II cuticular Hb1Add BLAST505

Proteomic databases

EPDiQ14533.
PaxDbiQ14533.
PeptideAtlasiQ14533.
PRIDEiQ14533.

PTM databases

iPTMnetiQ14533.
PhosphoSitePlusiQ14533.
SwissPalmiQ14533.

Expressioni

Tissue specificityi

Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.3 Publications

Gene expression databases

BgeeiENSG00000205426.
CleanExiHS_KRT81.
ExpressionAtlasiQ14533. baseline and differential.
GenevisibleiQ14533. HS.

Organism-specific databases

HPAiCAB009344.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
Hoxa1P090223EBI-739648,EBI-3957603From a different organism.
KRT15P190123EBI-739648,EBI-739566
KRT31Q153237EBI-739648,EBI-948001
KRT38O760157EBI-739648,EBI-1047263
KRT40Q6A1627EBI-739648,EBI-10171697
KXD1Q9BQD32EBI-739648,EBI-739657
OTX1P322427EBI-739648,EBI-740446

Protein-protein interaction databases

BioGridi110085. 12 interactors.
IntActiQ14533. 20 interactors.
MINTiMINT-1184731.
STRINGi9606.ENSP00000369349.

Structurei

3D structure databases

ProteinModelPortaliQ14533.
SMRiQ14533.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 106HeadAdd BLAST106
Regioni107 – 413RodAdd BLAST307
Regioni107 – 141Coil 1AAdd BLAST35
Regioni142 – 151Linker 110
Regioni152 – 252Coil 1BAdd BLAST101
Regioni253 – 269Linker 12Add BLAST17
Regioni270 – 413Coil 2Add BLAST144
Regioni414 – 505TailAdd BLAST92

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH1H. Eukaryota.
ENOG41113GZ. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ14533.
KOiK07605.
OMAiFSTVGCG.
OrthoDBiEOG091G06FG.
PhylomeDBiQ14533.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. 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]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q14533-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTCGSGFGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV
60 70 80 90 100
CGGFRAGSCG RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ
110 120 130 140 150
CVKQEEKEQI KSLNSRFAAF IDKVRFLEQQ NKLLETKLQF YQNRECCQSN
160 170 180 190 200
LEPLFEGYIE TLRREAECVE ADSGRLASEL NHVQEVLEGY KKKYEEEVSL
210 220 230 240 250
RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR RLYEEEILIL
260 270 280 290 300
QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK
310 320 330 340 350
CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV
360 370 380 390 400
AQSEQQGEAA LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD
410 420 430 440 450
IEIATYRRLL EGEEQRLCEG IGAVNVCVSS SRGGVVCGDL CVSGSRPVTG
460 470 480 490 500
SVCSAPCNGN VAVSTGLCAP CGQLNTTCGG GSCGVGSCGI SSLGVGSCGS

SCRKC
Length:505
Mass (Da):54,928
Last modified:November 2, 2010 - v3
Checksum:i6CD174038C3B6C27
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti139Q → P in AAI17468 (PubMed:15489334).Curated1
Sequence conflicti139Q → P in AAI17466 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01811352G → R.Corresponds to variant rs2071588dbSNPEnsembl.1
Natural variantiVAR_018114248L → R.3 PublicationsCorresponds to variant rs6580873dbSNPEnsembl.1
Natural variantiVAR_018115316R → C.Corresponds to variant rs4761786dbSNPEnsembl.1
Natural variantiVAR_018116402E → K in MNLIX. 1 PublicationCorresponds to variant rs56821304dbSNPEnsembl.1
Natural variantiVAR_073048408R → C in MNLIX. 1 PublicationCorresponds to variant rs771393943dbSNPEnsembl.1
Natural variantiVAR_018117413E → K in MNLIX. 1 PublicationCorresponds to variant rs57419521dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13621 Genomic DNA. Translation: CAA73943.1.
AC121757 Genomic DNA. No translation available.
BC006452 mRNA. Translation: AAH06452.1.
BC021241 mRNA. Translation: AAH21241.1.
BC117465 mRNA. Translation: AAI17466.1.
BC117467 mRNA. Translation: AAI17468.1.
X81420 mRNA. Translation: CAA57180.1.
X80197 mRNA. Translation: CAA56488.1.
S75796 Genomic DNA. Translation: AAB32813.1.
CCDSiCCDS31805.1.
PIRiI38025.
RefSeqiNP_002272.2. NM_002281.3.
UniGeneiHs.658118.

Genome annotation databases

EnsembliENST00000327741; ENSP00000369349; ENSG00000205426.
GeneIDi3887.
KEGGihsa:3887.
UCSCiuc001sab.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13621 Genomic DNA. Translation: CAA73943.1.
AC121757 Genomic DNA. No translation available.
BC006452 mRNA. Translation: AAH06452.1.
BC021241 mRNA. Translation: AAH21241.1.
BC117465 mRNA. Translation: AAI17466.1.
BC117467 mRNA. Translation: AAI17468.1.
X81420 mRNA. Translation: CAA57180.1.
X80197 mRNA. Translation: CAA56488.1.
S75796 Genomic DNA. Translation: AAB32813.1.
CCDSiCCDS31805.1.
PIRiI38025.
RefSeqiNP_002272.2. NM_002281.3.
UniGeneiHs.658118.

3D structure databases

ProteinModelPortaliQ14533.
SMRiQ14533.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110085. 12 interactors.
IntActiQ14533. 20 interactors.
MINTiMINT-1184731.
STRINGi9606.ENSP00000369349.

PTM databases

iPTMnetiQ14533.
PhosphoSitePlusiQ14533.
SwissPalmiQ14533.

Polymorphism and mutation databases

BioMutaiKRT81.
DMDMi311033435.

Proteomic databases

EPDiQ14533.
PaxDbiQ14533.
PeptideAtlasiQ14533.
PRIDEiQ14533.

Protocols and materials databases

DNASUi3887.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327741; ENSP00000369349; ENSG00000205426.
GeneIDi3887.
KEGGihsa:3887.
UCSCiuc001sab.4. human.

Organism-specific databases

CTDi3887.
DisGeNETi3887.
GeneCardsiKRT81.
H-InvDBHIX0036779.
HGNCiHGNC:6458. KRT81.
HPAiCAB009344.
MalaCardsiKRT81.
MIMi158000. phenotype.
602153. gene.
neXtProtiNX_Q14533.
OpenTargetsiENSG00000205426.
Orphaneti573. Monilethrix.
PharmGKBiPA30247.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH1H. Eukaryota.
ENOG41113GZ. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ14533.
KOiK07605.
OMAiFSTVGCG.
OrthoDBiEOG091G06FG.
PhylomeDBiQ14533.
TreeFamiTF317854.

Enzyme and pathway databases

BioCyciZFISH:G66-33346-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GeneWikiiKRT81.
GenomeRNAii3887.
PROiQ14533.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205426.
CleanExiHS_KRT81.
ExpressionAtlasiQ14533. baseline and differential.
GenevisibleiQ14533. HS.

Family and domain databases

InterProiIPR001664. 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]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKRT81_HUMAN
AccessioniPrimary (citable) accession number: Q14533
Secondary accession number(s): Q14846
, Q16274, Q17R48, Q8WU52, Q9BR74
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 2, 2010
Last modified: November 30, 2016
This is version 144 of the entry and version 3 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.