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P60410

- KR108_HUMAN

UniProt

P60410 - KR108_HUMAN

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Protein

Keratin-associated protein 10-8

Gene

KRTAP10-8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript 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 10-8
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 namesi
Name:KRTAP10-8
Synonyms:KAP10.8, KAP18-8, KRTAP10.8, KRTAP18-8, KRTAP18.8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:20525. KRTAP10-8.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134968895.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 259259Keratin-associated protein 10-8PRO_0000185216Add
BLAST

Proteomic databases

PaxDbiP60410.
PRIDEiP60410.

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

CleanExiHS_KRTAP10-8.
GenevestigatoriP60410.

Interactioni

Subunit structurei

Interacts with hair keratins.

Structurei

3D structure databases

ProteinModelPortaliP60410.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati50 – 5451
Repeati60 – 6452
Repeati65 – 6953
Repeati98 – 10254
Repeati108 – 11255
Repeati118 – 12256
Repeati123 – 12757
Repeati133 – 13758
Repeati145 – 14959
Repeati155 – 159510
Repeati165 – 169511
Repeati170 – 174512
Repeati175 – 179513
Repeati187 – 191514
Repeati197 – 201515
Repeati202 – 206516
Repeati221 – 225517
Repeati228 – 232518
Repeati239 – 243519

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni26 – 24321819 X 5 AA repeats of C-C-X(3)Add
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 10 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG113264.
GeneTreeiENSGT00770000120513.
HOGENOMiHOG000234031.
HOVERGENiHBG108072.
InParanoidiP60410.
OMAiCTDSCTP.
OrthoDBiEOG7Q5HGX.
PhylomeDBiP60410.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
IPR007951. KRTAP_PMG.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 2 hits.
PF05287. PMG. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P60410-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MADACCTRTY VIAASTMSVC SSDVGHVSRV SSPSTCTGSS WQVDNCQESC
60 70 80 90 100
CEPRSCASSC CTPSCCAPAP CLALVCAPVS CEPSPCQSGC TDSCTPSCCQ
110 120 130 140 150
QSSCQPACCT SSPCQQACCV PVCCKSNCCK PVCCVSICSG ASSPCCQQSS
160 170 180 190 200
CQSACCTFSP CQQACCVPIC CKPICCVPVC SGASSLCCQK SSCQPACCTT
210 220 230 240 250
SCCRPSSSVS LLCRPVCRPA CCVPVPSCCV PASSCQPSCC HPASCLSFLC

RPACSRLAC
Length:259
Mass (Da):26,299
Last modified:October 17, 2006 - v2
Checksum:i180307276CAB4607
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261H → R.2 Publications
Corresponds to variant rs411254 [ dbSNP | Ensembl ].
VAR_028234
Natural varianti64 – 641S → N in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036560
Natural varianti159 – 1591S → F in a breast cancer sample; somatic mutation. 1 Publication
VAR_036561

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076355 mRNA. Translation: BAD01542.1.
AL773602 Genomic DNA. No translation available.
BC127016 mRNA. Translation: AAI27017.1.
CCDSiCCDS13713.1.
RefSeqiNP_941968.2. NM_198695.2.
UniGeneiHs.528021.

Genome annotation databases

EnsembliENST00000334662; ENSP00000335565; ENSG00000187766.
GeneIDi386681.
KEGGihsa:386681.
UCSCiuc002zfo.1. human.

Polymorphism databases

DMDMi116242612.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076355 mRNA. Translation: BAD01542.1 .
AL773602 Genomic DNA. No translation available.
BC127016 mRNA. Translation: AAI27017.1 .
CCDSi CCDS13713.1.
RefSeqi NP_941968.2. NM_198695.2.
UniGenei Hs.528021.

3D structure databases

ProteinModelPortali P60410.
ModBasei Search...
MobiDBi Search...

Polymorphism databases

DMDMi 116242612.

Proteomic databases

PaxDbi P60410.
PRIDEi P60410.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000334662 ; ENSP00000335565 ; ENSG00000187766 .
GeneIDi 386681.
KEGGi hsa:386681.
UCSCi uc002zfo.1. human.

Organism-specific databases

CTDi 386681.
GeneCardsi GC21P046031.
H-InvDB HIX0040851.
HGNCi HGNC:20525. KRTAP10-8.
neXtProti NX_P60410.
PharmGKBi PA134968895.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG113264.
GeneTreei ENSGT00770000120513.
HOGENOMi HOG000234031.
HOVERGENi HBG108072.
InParanoidi P60410.
OMAi CTDSCTP.
OrthoDBi EOG7Q5HGX.
PhylomeDBi P60410.
TreeFami TF351356.

Miscellaneous databases

GenomeRNAii 386681.
NextBioi 101004.
PROi P60410.

Gene expression databases

CleanExi HS_KRTAP10-8.
Genevestigatori P60410.

Family and domain databases

InterProi IPR002494. KAP.
IPR007951. KRTAP_PMG.
[Graphical view ]
PANTHERi PTHR23262. PTHR23262. 1 hit.
Pfami PF13885. Keratin_B2_2. 2 hits.
PF05287. PMG. 1 hit.
[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, 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.
    , 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASN-64 AND PHE-159.

Entry informationi

Entry nameiKR108_HUMAN
AccessioniPrimary (citable) accession number: P60410
Secondary accession number(s): A0JNW4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: October 17, 2006
Last modified: November 26, 2014
This is version 85 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