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Protein

Keratin-associated protein 12-1

Gene

KRTAP12-1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin-associated protein 12-1
Alternative name(s):
High sulfur keratin-associated protein 12.1
Keratin-associated protein 12.1
Gene namesi
Name:KRTAP12-1
Synonyms:KAP12.1, KRTAP12.1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:20529. KRTAP12-1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134971238.

Polymorphism and mutation databases

BioMutaiKRTAP12-1.
DMDMi38257913.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 9696Keratin-associated protein 12-1PRO_0000185196Add
BLAST

Proteomic databases

PaxDbiP59990.
PeptideAtlasiP59990.
PRIDEiP59990.

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_KRTAP12-1.

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
FHL3Q136433EBI-10210845,EBI-741101
HOXA1P496395EBI-10210845,EBI-740785
KRTAP10-5P603703EBI-10210845,EBI-10172150
KRTAP10-7P604093EBI-10210845,EBI-10172290
KRTAP10-8P604103EBI-10210845,EBI-10171774
KRTAP10-9P604113EBI-10210845,EBI-10172052
KRTAP5-9P263713EBI-10210845,EBI-3958099
MEOX2A4D1273EBI-10210845,EBI-10172134
TRIP13Q156453EBI-10210845,EBI-358993

Protein-protein interaction databases

BioGridi131687. 12 interactions.
IntActiP59990. 9 interactions.
STRINGi9606.ENSP00000375475.

Structurei

3D structure databases

ProteinModelPortaliP59990.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati10 – 1451
Repeati15 – 1952
Repeati24 – 2853
Repeati30 – 3454
Repeati35 – 3955
Repeati45 – 4956
Repeati50 – 5457
Repeati55 – 5958
Repeati60 – 6459
Repeati70 – 74510
Repeati75 – 79511
Repeati80 – 84512
Repeati85 – 89513
Repeati90 – 94514

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni10 – 948514 X 5 AA approximate repeatsAdd
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 12 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4726. Eukaryota.
ENOG410XY8D. LUCA.
GeneTreeiENSGT00720000108835.
HOGENOMiHOG000234031.
HOVERGENiHBG095457.
InParanoidiP59990.
OMAiFKPAVCV.
OrthoDBiEOG77129Z.
PhylomeDBiP59990.
TreeFamiTF339135.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

P59990-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MCHTSCSSGC QPACCAPSPC QASCYIPVGC QSSVCVPVSF KPAVCVPVRC
60 70 80 90
QSSVCVPVSC RPVVYAAPSC QSSGCCQPSC TSVLCRPISC STPSCC
Length:96
Mass (Da):9,737
Last modified:November 7, 2003 - v1
Checksum:i9360F4462E1036C8
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076363 mRNA. Translation: BAD01550.1.
AJ566388 mRNA. Translation: CAD97468.1.
AL773604 Genomic DNA. No translation available.
BC119713 mRNA. Translation: AAI19714.1.
BC120942 mRNA. Translation: AAI20943.1.
BC127648 mRNA. Translation: AAI27649.1.
CCDSiCCDS42966.1.
RefSeqiNP_859014.1. NM_181686.1.
UniGeneiHs.688628.

Genome annotation databases

EnsembliENST00000391617; ENSP00000375475; ENSG00000187175.
GeneIDi353332.
KEGGihsa:353332.
UCSCiuc002zfv.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076363 mRNA. Translation: BAD01550.1.
AJ566388 mRNA. Translation: CAD97468.1.
AL773604 Genomic DNA. No translation available.
BC119713 mRNA. Translation: AAI19714.1.
BC120942 mRNA. Translation: AAI20943.1.
BC127648 mRNA. Translation: AAI27649.1.
CCDSiCCDS42966.1.
RefSeqiNP_859014.1. NM_181686.1.
UniGeneiHs.688628.

3D structure databases

ProteinModelPortaliP59990.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131687. 12 interactions.
IntActiP59990. 9 interactions.
STRINGi9606.ENSP00000375475.

Polymorphism and mutation databases

BioMutaiKRTAP12-1.
DMDMi38257913.

Proteomic databases

PaxDbiP59990.
PeptideAtlasiP59990.
PRIDEiP59990.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000391617; ENSP00000375475; ENSG00000187175.
GeneIDi353332.
KEGGihsa:353332.
UCSCiuc002zfv.3. human.

Organism-specific databases

CTDi353332.
GeneCardsiKRTAP12-1.
HGNCiHGNC:20529. KRTAP12-1.
neXtProtiNX_P59990.
PharmGKBiPA134971238.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4726. Eukaryota.
ENOG410XY8D. LUCA.
GeneTreeiENSGT00720000108835.
HOGENOMiHOG000234031.
HOVERGENiHBG095457.
InParanoidiP59990.
OMAiFKPAVCV.
OrthoDBiEOG77129Z.
PhylomeDBiP59990.
TreeFamiTF339135.

Miscellaneous databases

GenomeRNAii353332.
PROiP59990.

Gene expression databases

CleanExiHS_KRTAP12-1.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 1 hit.
[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. "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], TISSUE SPECIFICITY.
    Tissue: Scalp.
  3. "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].
  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].

Entry informationi

Entry nameiKR121_HUMAN
AccessioniPrimary (citable) accession number: P59990
Secondary accession number(s): Q0VAS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 7, 2003
Last modified: June 8, 2016
This is version 88 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. 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.