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Protein

Keratin-associated protein 10-12

Gene

KRTAP10-12

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 10-12
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 namesi
Name:KRTAP10-12
Synonyms:KAP10.12, KAP18-12, KRTAP10.12, KRTAP18-12, KRTAP18.12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:20533. KRTAP10-12.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134977717.

Polymorphism and mutation databases

BioMutaiKRTAP10-12.
DMDMi42558957.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 245245Keratin-associated protein 10-12PRO_0000185220Add
BLAST

Proteomic databases

PaxDbiP60413.
PeptideAtlasiP60413.
PRIDEiP60413.

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

BgeeiP60413.
CleanExiHS_KRTAP10-12.
GenevestigatoriP60413.

Interactioni

Subunit structurei

Interacts with hair keratins.

Protein-protein interaction databases

STRINGi9606.ENSP00000383216.

Structurei

3D structure databases

ProteinModelPortaliP60413.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati36 – 4051
Repeati41 – 4552
Repeati62 – 6653
Repeati84 – 8854
Repeati94 – 9855
Repeati104 – 10856
Repeati109 – 11357
Repeati114 – 11858
Repeati119 – 12359
Repeati124 – 128510
Repeati131 – 135511
Repeati141 – 145512
Repeati151 – 155513
Repeati156 – 160514
Repeati161 – 165515
Repeati173 – 177516
Repeati183 – 187517
Repeati188 – 192518
Repeati214 – 218519

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni36 – 21818319 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

eggNOGiNOG324830.
GeneTreeiENSGT00780000121948.
HOGENOMiHOG000234031.
HOVERGENiHBG108072.
InParanoidiP60413.
OMAiCIPASAL.
OrthoDBiEOG780RQD.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P60413-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSVCSSDLSY GSRVCLPGSC DSCSDSWQVD DCPESCCEPP CCAPAPCLSL
60 70 80 90 100
VCTPVSRVSS PCCRVTCEPS PCQSGCTSSC TPSCCQQSSC QPACCTSSPC
110 120 130 140 150
QQACCVPVCC KTVCCKPVCC MPVCCGPSSS CCQQSSCQPA CCISSPCQQS
160 170 180 190 200
CCVPVCCKPI CCVPVCSGAS SLCCQQSSCQ PACCTTSCCR PSSSVSLLCR
210 220 230 240
PVCRPARRVP VPSCCVPTSS CQPSCGRLAS CGSLLCRPTC SRLAC
Length:245
Mass (Da):25,107
Last modified:February 16, 2004 - v1
Checksum:i815BC4AD4A25285E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti146 – 1461P → Q.
Corresponds to variant rs35076450 [ dbSNP | Ensembl ].
VAR_053465
Natural varianti226 – 2261G → S.
Corresponds to variant rs34302939 [ dbSNP | Ensembl ].
VAR_053466

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS42967.1.
RefSeqiNP_941972.1. NM_198699.1.
UniGeneiHs.297526.

Genome annotation databases

EnsembliENST00000400365; ENSP00000383216; ENSG00000189169.
GeneIDi386685.
KEGGihsa:386685.
UCSCiuc002zfw.1. human.

Polymorphism and mutation databases

BioMutaiKRTAP10-12.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS42967.1.
RefSeqiNP_941972.1. NM_198699.1.
UniGeneiHs.297526.

3D structure databases

ProteinModelPortaliP60413.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000383216.

Polymorphism and mutation databases

BioMutaiKRTAP10-12.
DMDMi42558957.

Proteomic databases

PaxDbiP60413.
PeptideAtlasiP60413.
PRIDEiP60413.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000400365; ENSP00000383216; ENSG00000189169.
GeneIDi386685.
KEGGihsa:386685.
UCSCiuc002zfw.1. human.

Organism-specific databases

CTDi386685.
GeneCardsiGC21P046117.
HGNCiHGNC:20533. KRTAP10-12.
neXtProtiNX_P60413.
PharmGKBiPA134977717.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG324830.
GeneTreeiENSGT00780000121948.
HOGENOMiHOG000234031.
HOVERGENiHBG108072.
InParanoidiP60413.
OMAiCIPASAL.
OrthoDBiEOG780RQD.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii386685.
NextBioi101020.
PROiP60413.

Gene expression databases

BgeeiP60413.
CleanExiHS_KRTAP10-12.
GenevestigatoriP60413.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 2 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.
    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].
  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.

Entry informationi

Entry nameiKR10C_HUMAN
AccessioniPrimary (citable) accession number: P60413
Secondary accession number(s): B2RPA3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: February 16, 2004
Last modified: April 29, 2015
This is version 85 of the entry and version 1 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

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 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.