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P60410 (KR108_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin-associated protein 10-8
Alternative name(s):
High sulfur keratin-associated protein 10.8
Keratin-associated protein 10.8
Keratin-associated protein 18-8
Keratin-associated protein 18.8
Gene names
Name:KRTAP10-8
Synonyms:KAP10.8, KAP18-8, KRTAP10.8, KRTAP18-8, KRTAP18.8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length259 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Subunit structure

Interacts with hair keratins.

Tissue specificity

Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues. Ref.1 Ref.4

Sequence similarities

Belongs to the KRTAP type 10 family.

Ontologies

Keywords
   Cellular componentKeratin
   Coding sequence diversityPolymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentkeratin filament

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 259259Keratin-associated protein 10-8
PRO_0000185216

Regions

Repeat50 – 5451
Repeat60 – 6452
Repeat65 – 6953
Repeat98 – 10254
Repeat108 – 11255
Repeat118 – 12256
Repeat123 – 12757
Repeat133 – 13758
Repeat145 – 14959
Repeat155 – 159510
Repeat165 – 169511
Repeat170 – 174512
Repeat175 – 179513
Repeat187 – 191514
Repeat197 – 201515
Repeat202 – 206516
Repeat221 – 225517
Repeat228 – 232518
Repeat239 – 243519
Region26 – 24321819 X 5 AA repeats of C-C-X(3)

Natural variations

Natural variant261H → R. Ref.1 Ref.3
Corresponds to variant rs411254 [ dbSNP | Ensembl ].
VAR_028234
Natural variant641S → N in a colorectal cancer sample; somatic mutation. Ref.5
VAR_036560
Natural variant1591S → F in a breast cancer sample; somatic mutation. Ref.5
VAR_036561

Sequences

Sequence LengthMass (Da)Tools
P60410 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 180307276CAB4607

FASTA25926,299
        10         20         30         40         50         60 
MADACCTRTY VIAASTMSVC SSDVGHVSRV SSPSTCTGSS WQVDNCQESC CEPRSCASSC 

        70         80         90        100        110        120 
CTPSCCAPAP CLALVCAPVS CEPSPCQSGC TDSCTPSCCQ QSSCQPACCT SSPCQQACCV 

       130        140        150        160        170        180 
PVCCKSNCCK PVCCVSICSG ASSPCCQQSS CQSACCTFSP CQQACCVPIC CKPICCVPVC 

       190        200        210        220        230        240 
SGASSLCCQK SSCQPACCTT SCCRPSSSVS LLCRPVCRPA CCVPVPSCCV PASSCQPSCC 

       250 
HPASCLSFLC RPACSRLAC 

« Hide

References

« Hide 'large scale' references
[1]"A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3."
Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J., Shimizu N.
Genomics 83:679-693(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT ARG-26.
Tissue: Hair root.
[2]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [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-26.
[4]"Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21."
Rogers M.A., Langbein L., Winter H., Beckmann I., Praetzel S., Schweizer J.
J. Invest. Dermatol. 122:147-158(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASN-64 AND PHE-159.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB076355 mRNA. Translation: BAD01542.1.
AL773602 Genomic DNA. No translation available.
BC127016 mRNA. Translation: AAI27017.1.
RefSeqNP_941968.2. NM_198695.2.
UniGeneHs.528021.

3D structure databases

ProteinModelPortalP60410.
ModBaseSearch...
MobiDBSearch...

Polymorphism databases

DMDM116242612.

Proteomic databases

PaxDbP60410.
PRIDEP60410.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334662; ENSP00000335565; ENSG00000187766.
ENST00000609026; ENSP00000477438; ENSG00000272651.
GeneID386681.
KEGGhsa:386681.
UCSCuc002zfo.1. human.

Organism-specific databases

CTD386681.
GeneCardsGC21P046031.
H-InvDBHIX0040851.
HGNCHGNC:20525. KRTAP10-8.
neXtProtNX_P60410.
PharmGKBPA134968895.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG113264.
HOGENOMHOG000234031.
HOVERGENHBG108072.
InParanoidP60410.
OMACTDSCTP.
OrthoDBEOG7Q5HGX.
PhylomeDBP60410.
TreeFamTF351356.

Gene expression databases

CleanExHS_KRTAP10-8.
GenevestigatorP60410.

Family and domain databases

InterProIPR002494. Keratin-assoc.
IPR007951. KRTAP_PMG.
[Graphical view]
PANTHERPTHR23262. PTHR23262. 1 hit.
PfamPF05287. PMG. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi386681.
NextBio101004.
PROP60410.

Entry information

Entry nameKR108_HUMAN
AccessionPrimary (citable) accession number: P60410
Secondary accession number(s): A0JNW4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: October 17, 2006
Last modified: February 19, 2014
This is version 80 of the entry and version 2 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

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 21

Human chromosome 21: entries, gene names and cross-references to MIM