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P60411 (KR109_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 83. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin-associated protein 10-9
Alternative name(s):
High sulfur keratin-associated protein 10.9
Keratin-associated protein 10.9
Keratin-associated protein 18-9
Keratin-associated protein 18.9
Gene names
Name:KRTAP10-9
Synonyms:KAP10.9, KAP18-9, KRTAP10.9, KRTAP18-9, KRTAP18.9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length292 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 diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentkeratin filament

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 1 isoform produced by alternative splicing. [Select]

Note: A number of isoforms are produced.
Isoform 1 (identifier: P60411-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 292292Keratin-associated protein 10-9
PRO_0000185217

Regions

Repeat26 – 3051
Repeat31 – 3552
Repeat36 – 4053
Repeat57 – 6154
Repeat79 – 8355
Repeat99 – 10356
Repeat104 – 10857
Repeat109 – 11358
Repeat114 – 11859
Repeat120 – 124510
Repeat130 – 134511
Repeat140 – 144512
Repeat145 – 149513
Repeat150 – 154514
Repeat162 – 166515
Repeat172 – 176516
Repeat182 – 186517
Repeat187 – 191518
Repeat192 – 196519
Repeat197 – 201520
Repeat209 – 213521
Repeat219 – 223522
Repeat224 – 228523
Repeat243 – 247524
Repeat250 – 254525
Region26 – 25422925 X 5 AA repeats of C-C-X(3)

Natural variations

Natural variant1821Y → C. Ref.4
Corresponds to variant rs8127342 [ dbSNP | Ensembl ].
VAR_017739
Natural variant2571R → C. Ref.4 Ref.5
Corresponds to variant rs9980129 [ dbSNP | Ensembl ].
VAR_060052

Experimental info

Sequence conflict1021P → PVCCKT in EAX09409. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 20, 2010. Version 2.
Checksum: E61D891212803B98

FASTA29230,037
        10         20         30         40         50         60 
MAASTMSIRS SAYSDSWQVD DCPESCCEPP CCATSCCAPA PCLTLVCTPV SRVSSPCCQV 

        70         80         90        100        110        120 
TCEPSPCQSG CTSSCTPSCC QQSSCQPAYC TSSPCQQACC VPVCCKPVCC VPVCCGASSC 

       130        140        150        160        170        180 
CQQSSYQPAC CASSSCQPAC CVPVCCKPVC CAPTCSEDSY SCCQQSSCQP ACCTSSPCQQ 

       190        200        210        220        230        240 
SYCVPVCCKP VCCKPICCVP VCSGASSLCC QQSGCQPACC TTSCCRPSSS VSLLCRPVCR 

       250        260        270        280        290 
PACCVPVSSC CAPTSSRQPS YCRQASCVSL LCRPVCSRPA CYSFSSGQKS SC 

« 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], VARIANTS CYS-182 AND CYS-257.
[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: NUCLEOTIDE SEQUENCE [MRNA] OF 244-292, TISSUE SPECIFICITY, VARIANT CYS-257.
Tissue: Scalp.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB076356 mRNA. Translation: BAD01543.1.
AL773602 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09409.1.
CH471079 Genomic DNA. Translation: EAX09411.1.
BC131613 mRNA. Translation: AAI31614.1.
AJ566386 mRNA. Translation: CAD97466.1.
CCDSCCDS42961.1. [P60411-1]
RefSeqNP_941963.2. NM_198690.2. [P60411-1]
NP_941965.2. NM_198692.2.
UniGeneHs.474000.
Hs.58076.

3D structure databases

ProteinModelPortalP60411.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000381009.

PTM databases

PhosphoSiteP60411.

Polymorphism databases

DMDM294862449.

Proteomic databases

PaxDbP60411.
PeptideAtlasP60411.
PRIDEP60411.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000397911; ENSP00000381009; ENSG00000221837. [P60411-1]
ENST00000607897; ENSP00000476922; ENSG00000272586. [P60411-1]
GeneID386676.
386678.
KEGGhsa:386676.
hsa:386678.
UCSCuc002zfp.4. human. [P60411-1]

Organism-specific databases

CTD386676.
386678.
GeneCardsGC21P046047.
H-InvDBHIX0040852.
HGNCHGNC:22971. KRTAP10-9.
neXtProtNX_P60411.
PharmGKBPA134873081.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG270891.
HOGENOMHOG000234031.
HOVERGENHBG108072.
InParanoidP60411.
OMASEDSYSC.
OrthoDBEOG780RQD.
PhylomeDBP60411.
TreeFamTF351356.

Gene expression databases

BgeeP60411.
CleanExHS_KRTAP10-9.
GenevestigatorP60411.

Family and domain databases

InterProIPR002494. KAP.
[Graphical view]
PANTHERPTHR23262. PTHR23262. 1 hit.
PfamPF13885. Keratin_B2_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio100980.
PROP60411.

Entry information

Entry nameKR109_HUMAN
AccessionPrimary (citable) accession number: P60411
Secondary accession number(s): A2RRG1, A6NIR9, Q70LJ1
Entry history
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: April 20, 2010
Last modified: July 9, 2014
This is version 83 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