Q14533 (KRT81_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	KRT81
Synonyms:	KRTHB1, MLN137

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	505 AA.
Sequence status	Complete.
Protein existence	Evidence 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

Keywords
Cellular component	Intermediate filament Keratin
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	keratin filament Inferred from electronic annotation. Source: InterPro
Molecular_function	structural molecule activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Hoxa1	P09022	3	EBI-739648,EBI-3957603	From a different organism.
KXD1	Q9BQD3	2	EBI-739648,EBI-739657

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 505	505	Keratin, type II cuticular Hb1		PRO_0000063696
Regions
	Region	1 – 106	106	Head
	Region	107 – 413	307	Rod
	Region	107 – 141	35	Coil 1A
	Region	142 – 151	10	Linker 1
	Region	152 – 252	101	Coil 1B
	Region	253 – 269	17	Linker 12
	Region	270 – 413	144	Coil 2
	Region	414 – 505	92	Tail
Natural variations
	Natural variant	52	1	G → R. Corresponds to variant rs2071588 [ dbSNP | Ensembl ].		VAR_018113
	Natural variant	248	1	L → R. Ref.1 Ref.3 Ref.4 Corresponds to variant rs6580873 [ dbSNP | Ensembl ].		VAR_018114
	Natural variant	316	1	R → C. Corresponds to variant rs4761786 [ dbSNP | Ensembl ].		VAR_018115
	Natural variant	402	1	E → K in MLTRX. Ref.8		VAR_018116
	Natural variant	413	1	E → K in MLTRX. Ref.7 Corresponds to variant rs57419521 [ dbSNP | Ensembl ].		VAR_018117
Experimental info
	Sequence conflict	139	1	Q → P in AAI17468. Ref.3
	Sequence conflict	139	1	Q → P in AAI17466. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q14533 [UniParc]. Last modified November 2, 2010. Version 3. Checksum: 6CD174038C3B6C27	FASTA	505	54,928
	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

References

	« Hide 'large scale' referencesShow '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. , 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.

Web resources

Human Intermediate Filament Mutation Database

GeneReviews

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.
IPI	IPI00760863.
PIR	I38025.
RefSeq	NP_002272.2. NM_002281.3.
UniGene	Hs.658118.
3D structure databases
ProteinModelPortal	Q14533.
SMR	Q14533. Positions 102-253, 269-412.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q14533. 5 interactions.
MINT	MINT-1184731.
STRING	9606.ENSP00000369349.
PTM databases
PhosphoSite	Q14533.
Polymorphism databases
DMDM	311033435.
Proteomic databases
PaxDb	Q14533.
PRIDE	Q14533.
Protocols and materials databases
DNASU	3887.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000327741; ENSP00000369349; ENSG00000205426.
GeneID	3887.
KEGG	hsa:3887.
UCSC	uc001sab.3. human.
Organism-specific databases
CTD	3887.
GeneCards	GC12M052679.
H-InvDB	HIX0036779.
HGNC	HGNC:6458. KRT81.
MIM	158000. phenotype. 602153. gene.
neXtProt	NX_Q14533.
Orphanet	573. Monilethrix.
PharmGKB	PA30247.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149039.
HOGENOM	HOG000230976.
HOVERGEN	HBG013015.
InParanoid	Q14533.
KO	K07605.
OMA	CGSGPCH.
OrthoDB	EOG4B2SX3.
Gene expression databases
ArrayExpress	Q14533.
Bgee	Q14533.
CleanEx	HS_KRT81.
Genevestigator	Q14533.
GermOnline	ENSG00000205426. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit. PTHR23239:SF18. PTHR23239:SF18. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01276. TYPE2KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3887.
NextBio	15259.
SOURCE	Search...

Entry information

Entry name

KRT81_HUMAN

Accession

Primary (citable) accession number: Q14533
Secondary accession number(s): Q14846 , Q16274, Q17R48, Q8WU52, Q9BR74

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2004
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 111 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.