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Protein

Keratin-associated protein 12-2

Gene

KRTAP12-2

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 12-2
Alternative name(s):
High sulfur keratin-associated protein 12.2
Keratin-associated protein 12.2
Gene namesi
Name:KRTAP12-2
Synonyms:KAP12.2, KRTAP12.2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:20530. KRTAP12-2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134993440.

Polymorphism and mutation databases

BioMutaiKRTAP12-2.
DMDMi38257914.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 146146Keratin-associated protein 12-2PRO_0000185197Add
BLAST

Proteomic databases

PaxDbiP59991.
PeptideAtlasiP59991.
PRIDEiP59991.

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_KRTAP12-2.

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
Q5BKY63EBI-10176379,EBI-10243533
ARID5AC9J1Q03EBI-10176379,EBI-10176351
AVPI1Q5T6863EBI-10176379,EBI-8640233
FAM27E3Q08E933EBI-10176379,EBI-2602739
FHL3Q136433EBI-10176379,EBI-741101
HOXA1P496393EBI-10176379,EBI-740785
KRTAP10-5P603703EBI-10176379,EBI-10172150
KRTAP10-8P604103EBI-10176379,EBI-10171774
KRTAP26-1Q6PEX33EBI-10176379,EBI-3957672
KRTAP3-2Q9BYR73EBI-10176379,EBI-751260
KRTAP5-9P263713EBI-10176379,EBI-3958099
LCE4AQ5TA783EBI-10176379,EBI-10246358
NOTCH2NLQ7Z3S93EBI-10176379,EBI-945833
ODF1Q149903EBI-10176379,EBI-10234557
OTX1P322423EBI-10176379,EBI-740446
RBM39Q144983EBI-10176379,EBI-395290
RBPMSQ930623EBI-10176379,EBI-740322
TINAGL1Q9GZM73EBI-10176379,EBI-715869
TINAGL1Q9GZM7-33EBI-10176379,EBI-10303636
TNS2Q63HR23EBI-10176379,EBI-949753
TRIP13Q156453EBI-10176379,EBI-358993
VENTXO952313EBI-10176379,EBI-10191303
ZBTB9Q96C003EBI-10176379,EBI-395708

Protein-protein interaction databases

BioGridi131684. 25 interactions.
IntActiP59991. 22 interactions.
STRINGi9606.ENSP00000354001.

Structurei

3D structure databases

ProteinModelPortaliP59991.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati10 – 1451
Repeati15 – 1952
Repeati20 – 2453
Repeati25 – 2954
Repeati34 – 3855
Repeati40 – 4456
Repeati45 – 4957
Repeati55 – 5958
Repeati60 – 6459
Repeati65 – 69510
Repeati70 – 74511
Repeati75 – 79512
Repeati80 – 84513
Repeati85 – 89514
Repeati90 – 94515
Repeati95 – 99516
Repeati100 – 104517
Repeati105 – 109518
Repeati110 – 114519
Repeati120 – 124520
Repeati125 – 129521
Repeati130 – 134522
Repeati135 – 139523

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni10 – 13913023 X 5 AA approximate repeatsAdd
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 12 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410J6Z1. Eukaryota.
ENOG4111EDC. LUCA.
GeneTreeiENSGT00720000108835.
HOGENOMiHOG000234031.
InParanoidiP59991.
OMAiSCCVSRP.
OrthoDBiEOG77129Z.
PhylomeDBiP59991.
TreeFamiTF339135.

Family and domain databases

InterProiIPR002494. KAP.
IPR007951. KRTAP_PMG.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 2 hits.
PfamiPF05287. PMG. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P59991-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:146
Mass (Da):14,689
Last modified:November 7, 2003 - v1
Checksum:i7183BF01D2D7D069
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161A → T.
Corresponds to variant rs13046903 [ dbSNP | Ensembl ].
VAR_060057
Natural varianti16 – 161A → V.
Corresponds to variant rs7275298 [ dbSNP | Ensembl ].
VAR_060058
Natural varianti29 – 291S → C.
Corresponds to variant rs7275281 [ dbSNP | Ensembl ].
VAR_060059
Natural varianti29 – 291S → P.
Corresponds to variant rs7276859 [ dbSNP | Ensembl ].
VAR_062115
Natural varianti116 – 1161A → V.
Corresponds to variant rs12483730 [ dbSNP | Ensembl ].
VAR_053468
Natural varianti143 – 1431S → P.
Corresponds to variant rs2838622 [ dbSNP | Ensembl ].
VAR_053469

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.
CCDSiCCDS42965.1.
RefSeqiNP_859012.1. NM_181684.2.
UniGeneiHs.567902.

Genome annotation databases

EnsembliENST00000360770; ENSP00000354001; ENSG00000221864.
GeneIDi353323.
KEGGihsa:353323.
UCSCiuc002zfu.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS42965.1.
RefSeqiNP_859012.1. NM_181684.2.
UniGeneiHs.567902.

3D structure databases

ProteinModelPortaliP59991.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131684. 25 interactions.
IntActiP59991. 22 interactions.
STRINGi9606.ENSP00000354001.

Polymorphism and mutation databases

BioMutaiKRTAP12-2.
DMDMi38257914.

Proteomic databases

PaxDbiP59991.
PeptideAtlasiP59991.
PRIDEiP59991.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360770; ENSP00000354001; ENSG00000221864.
GeneIDi353323.
KEGGihsa:353323.
UCSCiuc002zfu.3. human.

Organism-specific databases

CTDi353323.
GeneCardsiKRTAP12-2.
HGNCiHGNC:20530. KRTAP12-2.
neXtProtiNX_P59991.
PharmGKBiPA134993440.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J6Z1. Eukaryota.
ENOG4111EDC. LUCA.
GeneTreeiENSGT00720000108835.
HOGENOMiHOG000234031.
InParanoidiP59991.
OMAiSCCVSRP.
OrthoDBiEOG77129Z.
PhylomeDBiP59991.
TreeFamiTF339135.

Miscellaneous databases

GenomeRNAii353323.
NextBioi99776.
PROiP59991.

Gene expression databases

CleanExiHS_KRTAP12-2.

Family and domain databases

InterProiIPR002494. KAP.
IPR007951. KRTAP_PMG.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 2 hits.
PfamiPF05287. PMG. 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 nameiKR122_HUMAN
AccessioniPrimary (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: November 11, 2015
This is version 93 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

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.