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P60413 (KR10C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 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 10-12
Alternative name(s):
High sulfur keratin-associated protein 10.12
Keratin-associated protein 10.12
Keratin-associated protein 18-12
Keratin-associated protein 18.12
Gene names
Name:KRTAP10-12
Synonyms:KAP10.12, KAP18-12, KRTAP10.12, KRTAP18-12, KRTAP18.12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length245 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.5

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 – 245245Keratin-associated protein 10-12
PRO_0000185220

Regions

Repeat36 – 4051
Repeat41 – 4552
Repeat62 – 6653
Repeat84 – 8854
Repeat94 – 9855
Repeat104 – 10856
Repeat109 – 11357
Repeat114 – 11858
Repeat119 – 12359
Repeat124 – 128510
Repeat131 – 135511
Repeat141 – 145512
Repeat151 – 155513
Repeat156 – 160514
Repeat161 – 165515
Repeat173 – 177516
Repeat183 – 187517
Repeat188 – 192518
Repeat214 – 218519
Region36 – 21818319 X 5 AA repeats of C-C-X(3)

Natural variations

Natural variant1461P → Q.
Corresponds to variant rs35076450 [ dbSNP | Ensembl ].
VAR_053465
Natural variant2261G → S.
Corresponds to variant rs34302939 [ dbSNP | Ensembl ].
VAR_053466

Sequences

Sequence LengthMass (Da)Tools
P60413 [UniParc].

Last modified February 16, 2004. Version 1.
Checksum: 815BC4AD4A25285E

FASTA24525,107
        10         20         30         40         50         60 
MSVCSSDLSY GSRVCLPGSC DSCSDSWQVD DCPESCCEPP CCAPAPCLSL VCTPVSRVSS 

        70         80         90        100        110        120 
PCCRVTCEPS PCQSGCTSSC TPSCCQQSSC QPACCTSSPC QQACCVPVCC KTVCCKPVCC 

       130        140        150        160        170        180 
MPVCCGPSSS CCQQSSCQPA CCISSPCQQS CCVPVCCKPI CCVPVCSGAS SLCCQQSSCQ 

       190        200        210        220        230        240 
PACCTTSCCR PSSSVSLLCR PVCRPARRVP VPSCCVPTSS CQPSCGRLAS CGSLLCRPTC 


SRLAC 

« 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.
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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
[5]"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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB076364 mRNA. Translation: BAD01551.1.
AL773604 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09404.1.
BC137339 mRNA. Translation: AAI37340.1.
BC137341 mRNA. Translation: AAI37342.1.
CCDSCCDS42967.1.
RefSeqNP_941972.1. NM_198699.1.
UniGeneHs.297526.

3D structure databases

ProteinModelPortalP60413.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000383216.

Polymorphism databases

DMDM42558957.

Proteomic databases

PaxDbP60413.
PeptideAtlasP60413.
PRIDEP60413.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000400365; ENSP00000383216; ENSG00000189169.
ENST00000608697; ENSP00000476938; ENSG00000272594.
GeneID386685.
KEGGhsa:386685.
UCSCuc002zfw.1. human.

Organism-specific databases

CTD386685.
GeneCardsGC21P046117.
HGNCHGNC:20533. KRTAP10-12.
neXtProtNX_P60413.
PharmGKBPA134977717.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG324830.
HOGENOMHOG000234031.
HOVERGENHBG108072.
InParanoidP60413.
OMACAPSSCL.
OrthoDBEOG780RQD.
TreeFamTF351356.

Gene expression databases

BgeeP60413.
CleanExHS_KRTAP10-12.
GenevestigatorP60413.

Family and domain databases

InterProIPR002494. KAP.
[Graphical view]
PANTHERPTHR23262. PTHR23262. 1 hit.
PfamPF13885. Keratin_B2_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi386685.
NextBio101020.
PROP60413.

Entry information

Entry nameKR10C_HUMAN
AccessionPrimary (citable) accession number: P60413
Secondary accession number(s): B2RPA3
Entry history
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: February 16, 2004
Last modified: July 9, 2014
This is version 79 of the entry and version 1 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