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P60411

- KR109_HUMAN

UniProt

P60411 - KR109_HUMAN

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Protein
Keratin-associated protein 10-9
Gene
KRTAP10-9, KAP10.9, KAP18-9, KRTAP10.9, KRTAP18-9, KRTAP18.9
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Synonyms:KAP10.9, KAP18-9, KRTAP10.9, KRTAP18-9, KRTAP18.9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:22971. KRTAP10-9.

Subcellular locationi

GO - Cellular componenti

  1. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134873081.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 292292Keratin-associated protein 10-9
PRO_0000185217Add
BLAST

Proteomic databases

PaxDbiP60411.
PeptideAtlasiP60411.
PRIDEiP60411.

PTM databases

PhosphoSiteiP60411.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiP60411.
CleanExiHS_KRTAP10-9.
GenevestigatoriP60411.

Interactioni

Subunit structurei

Interacts with hair keratins.

Protein-protein interaction databases

STRINGi9606.ENSP00000381009.

Structurei

3D structure databases

ProteinModelPortaliP60411.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati26 – 3051
Repeati31 – 3552
Repeati36 – 4053
Repeati57 – 6154
Repeati79 – 8355
Repeati99 – 10356
Repeati104 – 10857
Repeati109 – 11358
Repeati114 – 11859
Repeati120 – 124510
Repeati130 – 134511
Repeati140 – 144512
Repeati145 – 149513
Repeati150 – 154514
Repeati162 – 166515
Repeati172 – 176516
Repeati182 – 186517
Repeati187 – 191518
Repeati192 – 196519
Repeati197 – 201520
Repeati209 – 213521
Repeati219 – 223522
Repeati224 – 228523
Repeati243 – 247524
Repeati250 – 254525

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni26 – 25422925 X 5 AA repeats of C-C-X(3)
Add
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 10 family.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG270891.
HOGENOMiHOG000234031.
HOVERGENiHBG108072.
InParanoidiP60411.
OMAiSEDSYSC.
OrthoDBiEOG780RQD.
PhylomeDBiP60411.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

This entry describes 1 isoform i produced by alternative splicing. Align

Note: A number of isoforms are produced.

Isoform 1 (identifier: P60411-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAASTMSIRS SAYSDSWQVD DCPESCCEPP CCATSCCAPA PCLTLVCTPV    50
SRVSSPCCQV TCEPSPCQSG CTSSCTPSCC QQSSCQPAYC TSSPCQQACC 100
VPVCCKPVCC VPVCCGASSC CQQSSYQPAC CASSSCQPAC CVPVCCKPVC 150
CAPTCSEDSY SCCQQSSCQP ACCTSSPCQQ SYCVPVCCKP VCCKPICCVP 200
VCSGASSLCC QQSGCQPACC TTSCCRPSSS VSLLCRPVCR PACCVPVSSC 250
CAPTSSRQPS YCRQASCVSL LCRPVCSRPA CYSFSSGQKS SC 292
Length:292
Mass (Da):30,037
Last modified:April 20, 2010 - v2
Checksum:iE61D891212803B98
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti182 – 1821Y → C.1 Publication
Corresponds to variant rs8127342 [ dbSNP | Ensembl ].
VAR_017739
Natural varianti257 – 2571R → C.2 Publications
Corresponds to variant rs9980129 [ dbSNP | Ensembl ].
VAR_060052

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti102 – 1021P → PVCCKT in EAX09409. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS42961.1. [P60411-1]
RefSeqiNP_941963.2. NM_198690.2. [P60411-1]
NP_941965.2. NM_198692.2.
UniGeneiHs.474000.
Hs.58076.

Genome annotation databases

EnsembliENST00000397911; ENSP00000381009; ENSG00000221837. [P60411-1]
ENST00000607897; ENSP00000476922; ENSG00000272586. [P60411-1]
GeneIDi386676.
386678.
KEGGihsa:386676.
hsa:386678.
UCSCiuc002zfp.4. human. [P60411-1]

Polymorphism databases

DMDMi294862449.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS42961.1. [P60411-1 ]
RefSeqi NP_941963.2. NM_198690.2. [P60411-1 ]
NP_941965.2. NM_198692.2.
UniGenei Hs.474000.
Hs.58076.

3D structure databases

ProteinModelPortali P60411.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000381009.

PTM databases

PhosphoSitei P60411.

Polymorphism databases

DMDMi 294862449.

Proteomic databases

PaxDbi P60411.
PeptideAtlasi P60411.
PRIDEi P60411.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397911 ; ENSP00000381009 ; ENSG00000221837 . [P60411-1 ]
ENST00000607897 ; ENSP00000476922 ; ENSG00000272586 . [P60411-1 ]
GeneIDi 386676.
386678.
KEGGi hsa:386676.
hsa:386678.
UCSCi uc002zfp.4. human. [P60411-1 ]

Organism-specific databases

CTDi 386676.
386678.
GeneCardsi GC21P046047.
H-InvDB HIX0040852.
HGNCi HGNC:22971. KRTAP10-9.
neXtProti NX_P60411.
PharmGKBi PA134873081.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG270891.
HOGENOMi HOG000234031.
HOVERGENi HBG108072.
InParanoidi P60411.
OMAi SEDSYSC.
OrthoDBi EOG780RQD.
PhylomeDBi P60411.
TreeFami TF351356.

Miscellaneous databases

NextBioi 100980.
PROi P60411.

Gene expression databases

Bgeei P60411.
CleanExi HS_KRTAP10-9.
Genevestigatori P60411.

Family and domain databases

InterProi IPR002494. KAP.
[Graphical view ]
PANTHERi PTHR23262. PTHR23262. 1 hit.
Pfami PF13885. Keratin_B2_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

Entry informationi

Entry nameiKR109_HUMAN
AccessioniPrimary (citable) accession number: P60411
Secondary accession number(s): A2RRG1, A6NIR9, Q70LJ1
Entry historyi
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 statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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