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Q14533

- KRT81_HUMAN

UniProt

Q14533 - KRT81_HUMAN

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Protein

Keratin, type II cuticular Hb1

Gene

KRT81

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
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6458. KRT81.

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti402 – 4021E → K in MNLIX. 1 Publication
Corresponds to variant rs56821304 [ dbSNP | Ensembl ].
VAR_018116
Natural varianti413 – 4131E → K in MNLIX. 1 Publication
Corresponds to variant rs57419521 [ dbSNP | Ensembl ].
VAR_018117

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158000. phenotype.
Orphaneti573. Monilethrix.
PharmGKBiPA30247.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 505505Keratin, type II cuticular Hb1PRO_0000063696Add
BLAST

Proteomic databases

MaxQBiQ14533.
PaxDbiQ14533.
PRIDEiQ14533.

PTM databases

PhosphoSiteiQ14533.

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

BgeeiQ14533.
CleanExiHS_KRT81.
ExpressionAtlasiQ14533. baseline and differential.
GenevestigatoriQ14533.

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.
KXD1Q9BQD32EBI-739648,EBI-739657

Protein-protein interaction databases

BioGridi110085. 10 interactions.
IntActiQ14533. 6 interactions.
MINTiMINT-1184731.
STRINGi9606.ENSP00000369349.

Structurei

3D structure databases

ProteinModelPortaliQ14533.
SMRiQ14533. Positions 106-254, 272-412.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 106106HeadAdd
BLAST
Regioni107 – 413307RodAdd
BLAST
Regioni107 – 14135Coil 1AAdd
BLAST
Regioni142 – 15110Linker 1
Regioni152 – 252101Coil 1BAdd
BLAST
Regioni253 – 26917Linker 12Add
BLAST
Regioni270 – 413144Coil 2Add
BLAST
Regioni414 – 50592TailAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG149039.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ14533.
KOiK07605.
OMAiCGFSTVG.
OrthoDBiEOG7B05CW.
PhylomeDBiQ14533.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti139 – 1391Q → P in AAI17468. (PubMed:15489334)Curated
Sequence conflicti139 – 1391Q → P in AAI17466. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521G → R.
Corresponds to variant rs2071588 [ dbSNP | Ensembl ].
VAR_018113
Natural varianti248 – 2481L → R.3 Publications
Corresponds to variant rs6580873 [ dbSNP | Ensembl ].
VAR_018114
Natural varianti316 – 3161R → C.
Corresponds to variant rs4761786 [ dbSNP | Ensembl ].
VAR_018115
Natural varianti402 – 4021E → K in MNLIX. 1 Publication
Corresponds to variant rs56821304 [ dbSNP | Ensembl ].
VAR_018116
Natural varianti413 – 4131E → K in MNLIX. 1 Publication
Corresponds to variant rs57419521 [ dbSNP | Ensembl ].
VAR_018117

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.3. human.

Polymorphism databases

DMDMi311033435.

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 .
CCDSi CCDS31805.1.
PIRi I38025.
RefSeqi NP_002272.2. NM_002281.3.
UniGenei Hs.658118.

3D structure databases

ProteinModelPortali Q14533.
SMRi Q14533. Positions 106-254, 272-412.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110085. 10 interactions.
IntActi Q14533. 6 interactions.
MINTi MINT-1184731.
STRINGi 9606.ENSP00000369349.

PTM databases

PhosphoSitei Q14533.

Polymorphism databases

DMDMi 311033435.

Proteomic databases

MaxQBi Q14533.
PaxDbi Q14533.
PRIDEi Q14533.

Protocols and materials databases

DNASUi 3887.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000327741 ; ENSP00000369349 ; ENSG00000205426 .
GeneIDi 3887.
KEGGi hsa:3887.
UCSCi uc001sab.3. human.

Organism-specific databases

CTDi 3887.
GeneCardsi GC12M052679.
H-InvDB HIX0036779.
HGNCi HGNC:6458. KRT81.
MIMi 158000. phenotype.
602153. gene.
neXtProti NX_Q14533.
Orphaneti 573. Monilethrix.
PharmGKBi PA30247.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149039.
GeneTreei ENSGT00760000118796.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi Q14533.
KOi K07605.
OMAi CGFSTVG.
OrthoDBi EOG7B05CW.
PhylomeDBi Q14533.
TreeFami TF317854.

Miscellaneous databases

GeneWikii KRT81.
GenomeRNAii 3887.
NextBioi 15259.
PROi Q14533.
SOURCEi Search...

Gene expression databases

Bgeei Q14533.
CleanExi HS_KRT81.
ExpressionAtlasi Q14533. baseline and differential.
Genevestigatori Q14533.

Family and domain databases

InterProi 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.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
    Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B.
    J. Invest. Dermatol. 110:158-164(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANT ARG-248.
    Tissue: Scalp.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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], VARIANT ARG-248.
    Tissue: Lung.
  4. "Sequence data and chromosomal localization of human type I and type II hair keratin genes."
    Rogers M.A., Nischt R., Korge B., Krieg T., Fink T.M., Lichter P., Winter H., Schweizer J.
    Exp. Cell Res. 220:357-362(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 81-505, VARIANT ARG-248.
    Tissue: Scalp.
  5. "Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17."
    Tomasetto C.L., Regnier C.H., Moog-Lutz C., Mattei M.-G., Chenard M.-P., Lidereau R., Basset P., Rio M.-C.
    Genomics 28:367-376(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 249-505, TISSUE SPECIFICITY.
    Tissue: Mammary carcinoma.
  6. "Sequence and expression of human hair keratin genes."
    Bowden P.E., Hainey S., Parker G., Hodgins M.B.
    J. Dermatol. Sci. 7:S152-S163(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 390-470, TISSUE SPECIFICITY.
  7. "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix."
    Winter H., Rogers M.A., Gebhardt M., Wollina U., Boxall L., Chitayat D., Babul-Hirji R., Stevens H.P., Zlotogorski A., Schweizer J.
    Hum. Genet. 101:165-169(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MNLIX LYS-413.
  8. "A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1."
    Winter H., Labreze C., Chapalain V., Surleve-Bazeille J.E., Mercier M., Rogers M.A., Taieb A., Schweizer J.
    J. Invest. Dermatol. 111:169-172(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MNLIX LYS-402.

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: October 29, 2014
This is version 125 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

External Data

Dasty 3