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Protein

Keratin-associated protein 12-3

Gene

KRTAP12-3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin-associated protein 12-3
Alternative name(s):
High sulfur keratin-associated protein 12.3
Keratin-associated protein 12.3
Gene namesi
Name:KRTAP12-3
Synonyms:KAP12.3, KRTAP12.3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000205439.9
HGNCiHGNC:20531 KRTAP12-3
neXtProtiNX_P60328

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000205439
PharmGKBiPA134986807

Polymorphism and mutation databases

BioMutaiKRTAP12-3
DMDMi296434553

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001851981 – 96Keratin-associated protein 12-3Add BLAST96

Proteomic databases

PaxDbiP60328
PeptideAtlasiP60328
PRIDEiP60328
ProteomicsDBi57194

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

BgeeiENSG00000205439
CleanExiHS_KRTAP12-3

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

Show more details

Protein-protein interaction databases

IntActiP60328, 143 interactors
STRINGi9606.ENSP00000381005

Structurei

3D structure databases

ProteinModelPortaliP60328
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati10 – 1415
Repeati15 – 1925
Repeati24 – 2835
Repeati30 – 3445
Repeati35 – 3955
Repeati45 – 4965
Repeati50 – 5475
Repeati55 – 5985
Repeati60 – 6495
Repeati70 – 74105
Repeati75 – 79115
Repeati80 – 84125
Repeati85 – 89135
Repeati90 – 94145

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni10 – 9414 X 5 AA approximate repeatsAdd BLAST85

Sequence similaritiesi

Belongs to the KRTAP type 12 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410J6Z1 Eukaryota
ENOG4111EDC LUCA
GeneTreeiENSGT00720000108835
HOGENOMiHOG000234031
HOVERGENiHBG096216
InParanoidiP60328
PhylomeDBiP60328
TreeFamiTF339135

Family and domain databases

InterProiView protein in InterPro
IPR002494 KAP
PANTHERiPTHR23262 PTHR23262, 1 hit
PfamiView protein in Pfam
PF13885 Keratin_B2_2, 1 hit

Sequencei

Sequence statusi: Complete.

P60328-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MCHTSCSPAC QPTCCIHSPC QASCYVPVSC QSSVCMPVSC TRIVCVAPSC
60 70 80 90
QPSVCVPVSC RPIIYVTPSC QSSGCCQPPC TTALCRPISC STPSCC
Length:96
Mass (Da):9,947
Last modified:May 18, 2010 - v2
Checksum:i6D870B11E34F111C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01759217H → R1 PublicationCorresponds to variant dbSNP:rs9306111Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076361 mRNA Translation: BAD01548.1
AL773602 Genomic DNA No translation available.
CCDSiCCDS42964.1
RefSeqiNP_941970.2, NM_198697.2
UniGeneiHs.528023

Genome annotation databases

EnsembliENST00000397907; ENSP00000381005; ENSG00000205439
GeneIDi386683
KEGGihsa:386683
UCSCiuc002zft.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKR123_HUMAN
AccessioniPrimary (citable) accession number: P60328
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: May 18, 2010
Last modified: July 18, 2018
This is version 103 of the entry and version 2 of the sequence. See 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

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