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P60369 (KR103_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 79. 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 10-3
Alternative name(s):
High sulfur keratin-associated protein 10.3
Keratin-associated protein 10.3
Keratin-associated protein 18-3
Keratin-associated protein 18.3
Gene names
Name:KRTAP10-3
Synonyms:KAP10.3, KAP18-3, KRTAP10.3, KRTAP18-3, KRTAP18.3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length221 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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 – 221221Keratin-associated protein 10-3
PRO_0000185211

Regions

Repeat26 – 3051
Repeat31 – 3552
Repeat36 – 4053
Repeat57 – 6154
Repeat79 – 8355
Repeat89 – 9356
Repeat99 – 10357
Repeat104 – 10858
Repeat109 – 11359
Repeat114 – 118510
Repeat119 – 123511
Repeat124 – 128512
Repeat136 – 140513
Repeat146 – 150514
Repeat151 – 155515
Repeat177 – 181516
Repeat188 – 192517
Repeat210 – 214518
Region26 – 21418918 X 5 AA repeats of C-C-X(3)

Natural variations

Natural variant31T → A. Ref.3
Corresponds to variant rs452472 [ dbSNP | Ensembl ].
VAR_047850
Natural variant1701C → Y. Ref.1 Ref.4
Corresponds to variant rs233252 [ dbSNP | Ensembl ].
VAR_047851

Experimental info

Sequence conflict341T → P in BAD01537. Ref.1
Sequence conflict341T → P in AAI33678. Ref.3
Sequence conflict391P → L in AAI33678. Ref.3
Sequence conflict165 – 19127Missing in AAI33678. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P60369 [UniParc].

Last modified December 16, 2008. Version 2.
Checksum: E4045CE97F41B3B9

FASTA22122,348
        10         20         30         40         50         60 
MATSTMSVCS SAYSDSWQVD ACPESCCEPP CCATSCCAPA PCLTLVCTPV SCVSSPCCQA 

        70         80         90        100        110        120 
ACEPSPCQSG CTSSCTPSCC QQSSCQPACC TSSPCQQACC VPVCCKPVCC VPVCCKPVCC 

       130        140        150        160        170        180 
KPICCVPVCS GASSSCCQQS SRQPACCTTS CCRPSSSVSL LCRPVCRSTC CVPIPSCCAP 

       190        200        210        220 
ASTCQPSCCR PASCVSLLCR PTCSRLSSAC CGLSSGQKSS C 

« 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 TYR-170.
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 ALA-3.
[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: NUCLEOTIDE SEQUENCE [MRNA] OF 167-221, TISSUE SPECIFICITY, VARIANT TYR-170.
Tissue: Scalp.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB076350 mRNA. Translation: BAD01537.1.
AP001067 Genomic DNA. No translation available.
BC133677 mRNA. Translation: AAI33678.1.
AJ566383 mRNA. Translation: CAD97463.1.
RefSeqNP_941969.2. NM_198696.2.
UniGeneHs.688630.

3D structure databases

ProteinModelPortalP60369.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000375478.

Polymorphism databases

DMDM218511664.

Proteomic databases

PaxDbP60369.
PeptideAtlasP60369.
PRIDEP60369.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000391620; ENSP00000375478; ENSG00000212935.
ENST00000610010; ENSP00000477351; ENSG00000273054.
GeneID386682.
KEGGhsa:386682.
UCSCuc002zfj.1. human.

Organism-specific databases

CTD386682.
GeneCardsGC21M045977.
H-InvDBHIX0060037.
HGNCHGNC:22968. KRTAP10-3.
neXtProtNX_P60369.
PharmGKBPA134941853.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG258336.
HOGENOMHOG000234031.
HOVERGENHBG108072.
InParanoidP60369.
OMAPCQQSCG.
OrthoDBEOG780RQD.
TreeFamTF351356.

Gene expression databases

CleanExHS_KRTAP10-3.
GenevestigatorP60369.

Family and domain databases

InterProIPR002494. Keratin-assoc.
[Graphical view]
PANTHERPTHR23262. PTHR23262. 1 hit.
ProtoNetSearch...

Other

NextBio101008.
PROP60369.

Entry information

Entry nameKR103_HUMAN
AccessionPrimary (citable) accession number: P60369
Secondary accession number(s): A3KN67, Q70LJ4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: December 16, 2008
Last modified: February 19, 2014
This is version 79 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