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Q14533 (KRT81_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KRT81
Synonyms:KRTHB1, MLN137
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length505 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterotetramer of two type I and two type II keratins.

Tissue specificity

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. Ref.1 Ref.5 Ref.6

Involvement in disease

Monilethrix (MLTRX) [MIM:158000]: Autosomal dominant hair disorder characterized clinically 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Miscellaneous

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

Sequence similarities

Belongs to the intermediate filament family.

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Hoxa1P090223EBI-739648,EBI-3957603From a different organism.
KXD1Q9BQD32EBI-739648,EBI-739657

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 505505Keratin, type II cuticular Hb1
PRO_0000063696

Regions

Region1 – 106106Head
Region107 – 413307Rod
Region107 – 14135Coil 1A
Region142 – 15110Linker 1
Region152 – 252101Coil 1B
Region253 – 26917Linker 12
Region270 – 413144Coil 2
Region414 – 50592Tail

Natural variations

Natural variant521G → R.
Corresponds to variant rs2071588 [ dbSNP | Ensembl ].
VAR_018113
Natural variant2481L → R. Ref.1 Ref.3 Ref.4
Corresponds to variant rs6580873 [ dbSNP | Ensembl ].
VAR_018114
Natural variant3161R → C.
Corresponds to variant rs4761786 [ dbSNP | Ensembl ].
VAR_018115
Natural variant4021E → K in MLTRX. Ref.8
Corresponds to variant rs56821304 [ dbSNP | Ensembl ].
VAR_018116
Natural variant4131E → K in MLTRX. Ref.7
Corresponds to variant rs57419521 [ dbSNP | Ensembl ].
VAR_018117

Experimental info

Sequence conflict1391Q → P in AAI17468. Ref.3
Sequence conflict1391Q → P in AAI17466. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q14533 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: 6CD174038C3B6C27

FASTA50554,928
        10         20         30         40         50         60 
MTCGSGFGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV CGGFRAGSCG 

        70         80         90        100        110        120 
RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ CVKQEEKEQI KSLNSRFAAF 

       130        140        150        160        170        180 
IDKVRFLEQQ NKLLETKLQF YQNRECCQSN LEPLFEGYIE TLRREAECVE ADSGRLASEL 

       190        200        210        220        230        240 
NHVQEVLEGY KKKYEEEVSL RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR 

       250        260        270        280        290        300 
RLYEEEILIL QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK 

       310        320        330        340        350        360 
CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV AQSEQQGEAA 

       370        380        390        400        410        420 
LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD IEIATYRRLL EGEEQRLCEG 

       430        440        450        460        470        480 
IGAVNVCVSS SRGGVVCGDL CVSGSRPVTG SVCSAPCNGN VAVSTGLCAP CGQLNTTCGG 

       490        500 
GSCGVGSCGI SSLGVGSCGS SCRKC 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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 MLTRX 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 MLTRX LYS-402.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31805.1.
PIRI38025.
RefSeqNP_002272.2. NM_002281.3.
UniGeneHs.658118.

3D structure databases

ProteinModelPortalQ14533.
SMRQ14533. Positions 106-254, 272-412.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110085. 10 interactions.
IntActQ14533. 6 interactions.
MINTMINT-1184731.
STRING9606.ENSP00000369349.

PTM databases

PhosphoSiteQ14533.

Polymorphism databases

DMDM311033435.

Proteomic databases

MaxQBQ14533.
PaxDbQ14533.
PRIDEQ14533.

Protocols and materials databases

DNASU3887.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000327741; ENSP00000369349; ENSG00000205426.
GeneID3887.
KEGGhsa:3887.
UCSCuc001sab.3. human.

Organism-specific databases

CTD3887.
GeneCardsGC12M052679.
H-InvDBHIX0036779.
HGNCHGNC:6458. KRT81.
MIM158000. phenotype.
602153. gene.
neXtProtNX_Q14533.
Orphanet573. Monilethrix.
PharmGKBPA30247.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149039.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidQ14533.
KOK07605.
OMACGFSTVG.
OrthoDBEOG7B05CW.
PhylomeDBQ14533.
TreeFamTF317854.

Gene expression databases

ArrayExpressQ14533.
BgeeQ14533.
CleanExHS_KRT81.
GenevestigatorQ14533.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01276. TYPE2KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKRT81.
GenomeRNAi3887.
NextBio15259.
PROQ14533.
SOURCESearch...

Entry information

Entry nameKRT81_HUMAN
AccessionPrimary (citable) accession number: Q14533
Secondary accession number(s): Q14846 expand/collapse secondary AC list , Q16274, Q17R48, Q8WU52, Q9BR74
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM