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Protein

Keratin-associated protein 10-1

Gene

KRTAP10-1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 10-1
Alternative name(s):
High sulfur keratin-associated protein 10.1
Keratin-associated protein 10.1
Keratin-associated protein 18-1
Keratin-associated protein 18.1
Gene namesi
Name:KRTAP10-1
Synonyms:KAP10.1, KAP18-1, KRTAP10.1, KRTAP18-1, KRTAP18.1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:22966. KRTAP10-1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134884303.

Polymorphism and mutation databases

BioMutaiKRTAP10-1.
DMDMi215274024.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 282282Keratin-associated protein 10-1PRO_0000185209Add
BLAST

Proteomic databases

PaxDbiP60331.
PRIDEiP60331.

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

BgeeiP60331.
CleanExiHS_KRTAP10-1.

Interactioni

Subunit structurei

Interacts with hair keratins.

Protein-protein interaction databases

BioGridi132128. 74 interactions.
STRINGi9606.ENSP00000383226.

Structurei

3D structure databases

ProteinModelPortaliP60331.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati26 – 3051
Repeati31 – 3552
Repeati36 – 4053
Repeati57 – 6154
Repeati79 – 8355
Repeati89 – 9356
Repeati99 – 10357
Repeati104 – 10858
Repeati109 – 11359
Repeati121 – 125510
Repeati131 – 135511
Repeati141 – 145512
Repeati146 – 150513
Repeati163 – 167514
Repeati173 – 177515
Repeati183 – 187516
Repeati193 – 197517
Repeati198 – 202518
Repeati210 – 214519
Repeati220 – 224520
Repeati225 – 229521
Repeati244 – 248522
Repeati251 – 255523
Repeati262 – 266524

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni26 – 26624124 X 5 AA repeats of C-C-X(3)Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi134 – 1374Poly-Ser

Sequence similaritiesi

Belongs to the KRTAP type 10 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410JH3R. Eukaryota.
ENOG4111BSI. LUCA.
GeneTreeiENSGT00780000121948.
HOGENOMiHOG000234031.
HOVERGENiHBG108072.
InParanoidiP60331.
OMAiCAHASSC.
OrthoDBiEOG75MW0M.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 2 hits.
PfamiPF13885. Keratin_B2_2. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P60331-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAASTMSVCS SACSDSWQVD ACPESCCEPH CCALSCCAPA PCLTLVCTPV
60 70 80 90 100
SRVSSPCCQA ACEPSPCQSG CTSSCTPSCC QQSSCQPACC TSSPCQQACC
110 120 130 140 150
VPVCCKPVCC LPTCSKDSSS CCQQSSCQPT CCASSSSQQS CCVPVCCKPV
160 170 180 190 200
CYVPTCSEDS SSCCQQSSCH PACCTSSPCQ QACCVPVRCK PVCCKPICCV
210 220 230 240 250
PVCSGASTSC CQQSSCQPAC CTTSCCRPSS SVSLLCRPVC RPACCMPVSS
260 270 280
CCAPASSCQA SCCRPASCVS LLCRPACSRP AC
Length:282
Mass (Da):28,660
Last modified:November 25, 2008 - v2
Checksum:i3312B39453544BDF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21A → T in AAI20960 (PubMed:15489334).Curated
Sequence conflicti159 – 1591D → S in BAD01534 (PubMed:15028290).Curated
Sequence conflicti159 – 1591D → S in AAI20960 (PubMed:15489334).Curated
Sequence conflicti159 – 1591D → S in AAI20961 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391P → L.2 Publications
Corresponds to variant rs233320 [ dbSNP | Ensembl ].
VAR_017603
Natural varianti101 – 1011V → M.2 Publications
Corresponds to variant rs233319 [ dbSNP | Ensembl ].
VAR_047502
Natural varianti241 – 2411R → Q.1 Publication
Corresponds to variant rs233317 [ dbSNP | Ensembl ].
VAR_047503
Natural varianti280 – 2801P → L.1 Publication
Corresponds to variant rs233316 [ dbSNP | Ensembl ].
VAR_047504

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076347 mRNA. Translation: BAD01534.1.
AP001067 Genomic DNA. No translation available.
BC120959 mRNA. Translation: AAI20960.1.
BC120960 mRNA. Translation: AAI20961.1.
AJ566380 mRNA. Translation: CAD97461.1.
CCDSiCCDS42954.1.
RefSeqiNP_941964.2. NM_198691.2.
UniGeneiHs.688631.

Genome annotation databases

EnsembliENST00000400375; ENSP00000383226; ENSG00000215455.
GeneIDi386677.
KEGGihsa:386677.
UCSCiuc002zfh.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076347 mRNA. Translation: BAD01534.1.
AP001067 Genomic DNA. No translation available.
BC120959 mRNA. Translation: AAI20960.1.
BC120960 mRNA. Translation: AAI20961.1.
AJ566380 mRNA. Translation: CAD97461.1.
CCDSiCCDS42954.1.
RefSeqiNP_941964.2. NM_198691.2.
UniGeneiHs.688631.

3D structure databases

ProteinModelPortaliP60331.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132128. 74 interactions.
STRINGi9606.ENSP00000383226.

Polymorphism and mutation databases

BioMutaiKRTAP10-1.
DMDMi215274024.

Proteomic databases

PaxDbiP60331.
PRIDEiP60331.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000400375; ENSP00000383226; ENSG00000215455.
GeneIDi386677.
KEGGihsa:386677.
UCSCiuc002zfh.2. human.

Organism-specific databases

CTDi386677.
GeneCardsiKRTAP10-1.
H-InvDBHIX0203135.
HGNCiHGNC:22966. KRTAP10-1.
neXtProtiNX_P60331.
PharmGKBiPA134884303.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JH3R. Eukaryota.
ENOG4111BSI. LUCA.
GeneTreeiENSGT00780000121948.
HOGENOMiHOG000234031.
HOVERGENiHBG108072.
InParanoidiP60331.
OMAiCAHASSC.
OrthoDBiEOG75MW0M.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii386677.
PROiP60331.

Gene expression databases

BgeeiP60331.
CleanExiHS_KRTAP10-1.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 2 hits.
PfamiPF13885. Keratin_B2_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

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, VARIANTS LEU-39 AND MET-101.
    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], VARIANTS LEU-39; MET-101; GLN-241 AND LEU-280.
  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 281-282, TISSUE SPECIFICITY.
    Tissue: Scalp.

Entry informationi

Entry nameiKR101_HUMAN
AccessioniPrimary (citable) accession number: P60331
Secondary accession number(s): Q0VAR0, Q0VAR1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: November 25, 2008
Last modified: June 8, 2016
This is version 98 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.