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UniProtKB - P59991 (KR122_HUMAN)
Protein
Keratin-associated protein 12-2
Gene
KRTAP12-2
Organism
Homo sapiens (Human)
Status
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.
Enzyme and pathway databases
PathwayCommonsi | P59991 |
Reactomei | R-HSA-6805567, Keratinization |
SignaLinki | P59991 |
Names & Taxonomyi
Protein namesi | Recommended name: Keratin-associated protein 12-2Alternative name(s): High sulfur keratin-associated protein 12.2 Keratin-associated protein 12.2 |
Gene namesi | Name:KRTAP12-2 Synonyms:KAP12.2, KRTAP12.2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20530, KRTAP12-2 |
neXtProti | NX_P59991 |
VEuPathDBi | HostDB:ENSG00000221864 |
Subcellular locationi
Cytoskeleton
- keratin filament Source: InterPro
Cytosol
- cytosol Source: Reactome
Keywords - Cellular componenti
KeratinPathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000221864 |
PharmGKBi | PA134993440 |
Miscellaneous databases
Pharosi | P59991, Tdark |
Genetic variation databases
BioMutai | KRTAP12-2 |
DMDMi | 38257914 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000185197 | 1 – 146 | Keratin-associated protein 12-2Add BLAST | 146 |
Proteomic databases
MassIVEi | P59991 |
PaxDbi | P59991 |
PeptideAtlasi | P59991 |
PRIDEi | P59991 |
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
Bgeei | ENSG00000221864, Expressed in heart and 17 other tissues |
Organism-specific databases
HPAi | ENSG00000221864, Tissue enriched (skin) |
Interactioni
Subunit structurei
Interacts with hair keratins.
Binary interactionsi
P59991
Protein-protein interaction databases
BioGRIDi | 131684, 126 interactors |
IntActi | P59991, 120 interactors |
STRINGi | 9606.ENSP00000354001 |
Miscellaneous databases
RNActi | P59991, protein |
Structurei
3D structure databases
AlphaFoldDBi | P59991 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 10 – 14 | 1 | 5 | |
Repeati | 15 – 19 | 2 | 5 | |
Repeati | 20 – 24 | 3 | 5 | |
Repeati | 25 – 29 | 4 | 5 | |
Repeati | 34 – 38 | 5 | 5 | |
Repeati | 40 – 44 | 6 | 5 | |
Repeati | 45 – 49 | 7 | 5 | |
Repeati | 55 – 59 | 8 | 5 | |
Repeati | 60 – 64 | 9 | 5 | |
Repeati | 65 – 69 | 10 | 5 | |
Repeati | 70 – 74 | 11 | 5 | |
Repeati | 75 – 79 | 12 | 5 | |
Repeati | 80 – 84 | 13 | 5 | |
Repeati | 85 – 89 | 14 | 5 | |
Repeati | 90 – 94 | 15 | 5 | |
Repeati | 95 – 99 | 16 | 5 | |
Repeati | 100 – 104 | 17 | 5 | |
Repeati | 105 – 109 | 18 | 5 | |
Repeati | 110 – 114 | 19 | 5 | |
Repeati | 120 – 124 | 20 | 5 | |
Repeati | 125 – 129 | 21 | 5 | |
Repeati | 130 – 134 | 22 | 5 | |
Repeati | 135 – 139 | 23 | 5 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 10 – 139 | 23 X 5 AA approximate repeatsAdd BLAST | 130 |
Sequence similaritiesi
Belongs to the KRTAP type 12 family.Curated
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG4726, Eukaryota |
GeneTreei | ENSGT00940000163527 |
HOGENOMi | CLU_138013_0_0_1 |
InParanoidi | P59991 |
OMAi | NSCRCIY |
OrthoDBi | 1616617at2759 |
PhylomeDBi | P59991 |
TreeFami | TF339135 |
Family and domain databases
InterProi | View protein in InterPro IPR002494, KAP IPR007951, KRTAP_PMG |
PANTHERi | PTHR23262, PTHR23262, 4 hits |
Pfami | View protein in Pfam PF05287, PMG, 1 hit |
i Sequence
Sequence statusi: Complete.
P59991-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MCHTSCSSGC QPACCAPSPC QPACCVPSSC QASCCVPVGC QSSVCVPVSF
60 70 80 90 100
KPAVCLPVSC QSSVCVPMSF KSAVCVPVSC QSSVCVPVSC RPIVCAAPSC
110 120 130 140
QSSLCVPVSC RPVVYAAPSC QSSGCCQPSC TSVLCRPISY SISSCC
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_060057 | 16 | A → T. Corresponds to variant dbSNP:rs13046903Ensembl. | 1 | |
Natural variantiVAR_060058 | 16 | A → V. Corresponds to variant dbSNP:rs7275298Ensembl. | 1 | |
Natural variantiVAR_060059 | 29 | S → C. Corresponds to variant dbSNP:rs7275281Ensembl. | 1 | |
Natural variantiVAR_062115 | 29 | S → P. Corresponds to variant dbSNP:rs7276859Ensembl. | 1 | |
Natural variantiVAR_053468 | 116 | A → V. Corresponds to variant dbSNP:rs12483730Ensembl. | 1 | |
Natural variantiVAR_053469 | 143 | S → P. Corresponds to variant dbSNP:rs2838622Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB076362 mRNA Translation: BAD01549.1 AJ566389 mRNA Translation: CAD97469.1 AL773602 Genomic DNA No translation available. BC120941 mRNA Translation: AAI20942.1 |
CCDSi | CCDS42965.1 |
RefSeqi | NP_859012.1, NM_181684.2 |
Genome annotation databases
Ensembli | ENST00000360770.3; ENSP00000354001.3; ENSG00000221864.4 |
GeneIDi | 353323 |
KEGGi | hsa:353323 |
MANE-Selecti | ENST00000360770.3; ENSP00000354001.3; NM_181684.3; NP_859012.1 |
UCSCi | uc002zfu.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB076362 mRNA Translation: BAD01549.1 AJ566389 mRNA Translation: CAD97469.1 AL773602 Genomic DNA No translation available. BC120941 mRNA Translation: AAI20942.1 |
CCDSi | CCDS42965.1 |
RefSeqi | NP_859012.1, NM_181684.2 |
3D structure databases
AlphaFoldDBi | P59991 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 131684, 126 interactors |
IntActi | P59991, 120 interactors |
STRINGi | 9606.ENSP00000354001 |
Genetic variation databases
BioMutai | KRTAP12-2 |
DMDMi | 38257914 |
Proteomic databases
MassIVEi | P59991 |
PaxDbi | P59991 |
PeptideAtlasi | P59991 |
PRIDEi | P59991 |
Protocols and materials databases
DNASUi | 353323 |
Genome annotation databases
Ensembli | ENST00000360770.3; ENSP00000354001.3; ENSG00000221864.4 |
GeneIDi | 353323 |
KEGGi | hsa:353323 |
MANE-Selecti | ENST00000360770.3; ENSP00000354001.3; NM_181684.3; NP_859012.1 |
UCSCi | uc002zfu.3, human |
Organism-specific databases
CTDi | 353323 |
GeneCardsi | KRTAP12-2 |
HGNCi | HGNC:20530, KRTAP12-2 |
HPAi | ENSG00000221864, Tissue enriched (skin) |
neXtProti | NX_P59991 |
OpenTargetsi | ENSG00000221864 |
PharmGKBi | PA134993440 |
VEuPathDBi | HostDB:ENSG00000221864 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4726, Eukaryota |
GeneTreei | ENSGT00940000163527 |
HOGENOMi | CLU_138013_0_0_1 |
InParanoidi | P59991 |
OMAi | NSCRCIY |
OrthoDBi | 1616617at2759 |
PhylomeDBi | P59991 |
TreeFami | TF339135 |
Enzyme and pathway databases
PathwayCommonsi | P59991 |
Reactomei | R-HSA-6805567, Keratinization |
SignaLinki | P59991 |
Miscellaneous databases
BioGRID-ORCSi | 353323, 8 hits in 1056 CRISPR screens |
GenomeRNAii | 353323 |
Pharosi | P59991, Tdark |
PROi | PR:P59991 |
RNActi | P59991, protein |
Gene expression databases
Bgeei | ENSG00000221864, Expressed in heart and 17 other tissues |
Family and domain databases
InterProi | View protein in InterPro IPR002494, KAP IPR007951, KRTAP_PMG |
PANTHERi | PTHR23262, PTHR23262, 4 hits |
Pfami | View protein in Pfam PF05287, PMG, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KR122_HUMAN | |
Accessioni | P59991Primary (citable) accession number: P59991 Secondary accession number(s): A6NIS1, A6NMS9, Q0VAS4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 7, 2003 |
Last sequence update: | November 7, 2003 | |
Last modified: | May 25, 2022 | |
This is version 126 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - SIMILARITY comments
Index of protein domains and families