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Protein

Keratin-associated protein 4-12

Gene

KRTAP4-12

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 4-12
Alternative name(s):
Keratin-associated protein 4.12
Ultrahigh sulfur keratin-associated protein 4.12
Gene namesi
Name:KRTAP4-12
Synonyms:KAP4.12, KRTAP4.12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 17, Unplaced

Organism-specific databases

HGNCiHGNC:16776. KRTAP4-12.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38416.

Polymorphism and mutation databases

BioMutaiKRTAP4-12.
DMDMi38258229.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 201201Keratin-associated protein 4-12PRO_0000185178Add
BLAST

Proteomic databases

PaxDbiQ9BQ66.
PRIDEiQ9BQ66.

Expressioni

Tissue specificityi

Expressed in the hair follicles.1 Publication

Gene expression databases

BgeeiQ9BQ66.
CleanExiHS_KRTAP4-12.
GenevisibleiQ9BQ66. HS.

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
Q9NWL93EBI-739863,EBI-10315054
ADAMTSL4Q6UY14-33EBI-739863,EBI-10173507
ALPPP051873EBI-739863,EBI-1211484
C19orf66Q9NUL53EBI-739863,EBI-10313866
CATSPER1Q8NEC56EBI-739863,EBI-744545
CRCT1Q9UGL93EBI-739863,EBI-713677
CREB5Q02930-33EBI-739863,EBI-10192698
GLRX3O760034EBI-739863,EBI-374781
GNEQ9Y2233EBI-739863,EBI-4291090
GPATCH2LQ9NWQ43EBI-739863,EBI-5666657
HOXA1P496394EBI-739863,EBI-740785
Hoxa1P090224EBI-739863,EBI-3957603From a different organism.
IFI30P132843EBI-739863,EBI-2868897
KRTAP10-5P603703EBI-739863,EBI-10172150
KRTAP10-8P604103EBI-739863,EBI-10171774
KRTAP10-9P604113EBI-739863,EBI-10172052
KRTAP26-1Q6PEX33EBI-739863,EBI-3957672
KRTAP5-6Q6L8G93EBI-739863,EBI-10250562
KRTAP5-9P263715EBI-739863,EBI-3958099
KRTAP9-2Q9BYQ43EBI-739863,EBI-1044640
LCE1BQ5T7P33EBI-739863,EBI-10245913
LCE2DQ5TA823EBI-739863,EBI-10246750
LCE3EQ5T5B03EBI-739863,EBI-10245456
LCE4AQ5TA783EBI-739863,EBI-10246358
MAPKBP1O603363EBI-739863,EBI-947402
NOTCH2NLQ7Z3S93EBI-739863,EBI-945833
NUFIP2A1L3A75EBI-739863,EBI-10172018
OTX1P322424EBI-739863,EBI-740446
PCSK5Q928243EBI-739863,EBI-751290
PRKAB2O437413EBI-739863,EBI-1053424
SMCPP499015EBI-739863,EBI-750494
SPRY2O435974EBI-739863,EBI-742487
TBC1D23Q9NUY83EBI-739863,EBI-2853126
TXNDC5Q86UY03EBI-739863,EBI-2825190
ZNF20P170243EBI-739863,EBI-717634
ZNF415Q09FC83EBI-739863,EBI-10226171
ZNF581Q9P0T44EBI-739863,EBI-745520
ZSCAN26Q166703EBI-739863,EBI-3920053

Protein-protein interaction databases

BioGridi123756. 109 interactions.
IntActiQ9BQ66. 105 interactions.
MINTiMINT-1441052.

Structurei

3D structure databases

ProteinModelPortaliQ9BQ66.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati5 – 951
Repeati20 – 2452
Repeati25 – 2953
Repeati30 – 3454
Repeati35 – 3955
Repeati40 – 4456
Repeati45 – 4957
Repeati50 – 5458
Repeati55 – 5959
Repeati60 – 64510
Repeati65 – 69511
Repeati70 – 74512
Repeati75 – 79513
Repeati80 – 84514
Repeati85 – 89515
Repeati90 – 94516
Repeati95 – 99517
Repeati100 – 104518
Repeati105 – 109519
Repeati110 – 114520
Repeati115 – 119521
Repeati120 – 124522
Repeati125 – 129523
Repeati130 – 134524
Repeati135 – 139525
Repeati140 – 144526
Repeati145 – 149527
Repeati155 – 159528
Repeati160 – 164529
Repeati165 – 169530

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni5 – 16916531 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]-[VSTQPC]Add
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 4 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00780000121921.
HOGENOMiHOG000234030.
InParanoidiQ9BQ66.
OMAiCISSSCR.
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.

Q9BQ66-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVNSCCGSVC SDQGCGLENC CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC
60 70 80 90 100
CQSVCCQPTC CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC
110 120 130 140 150
CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC CRPSCCISSS
160 170 180 190 200
CCPSCCESSC CRPCCCLRPV CGRVSCHTTC YRPTCVISTC PRPLCCASSC

C
Length:201
Mass (Da):21,407
Last modified:June 1, 2001 - v1
Checksum:i7548ED69BF432804
GO

Polymorphismi

Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 14440Missing in allele KAP4.12-v1. 1 Publication
VAR_064563Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406943 mRNA. Translation: CAC27582.1.
AC100808 Genomic DNA. No translation available.
BC004180 mRNA. Translation: AAH04180.1.
BC004212 mRNA. Translation: AAH04212.1.
BC101159 mRNA. Translation: AAI01160.1.
BC101160 mRNA. Translation: AAI01161.1.
BC101162 mRNA. Translation: AAI01163.1.
CCDSiCCDS32649.1.
RefSeqiNP_114060.1. NM_031854.2.
UniGeneiHs.572443.

Genome annotation databases

EnsembliENST00000394014; ENSP00000377582; ENSG00000213416.
ENST00000571271; ENSP00000458979; ENSG00000263236.
GeneIDi83755.
KEGGihsa:83755.
UCSCiuc002hwa.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406943 mRNA. Translation: CAC27582.1.
AC100808 Genomic DNA. No translation available.
BC004180 mRNA. Translation: AAH04180.1.
BC004212 mRNA. Translation: AAH04212.1.
BC101159 mRNA. Translation: AAI01160.1.
BC101160 mRNA. Translation: AAI01161.1.
BC101162 mRNA. Translation: AAI01163.1.
CCDSiCCDS32649.1.
RefSeqiNP_114060.1. NM_031854.2.
UniGeneiHs.572443.

3D structure databases

ProteinModelPortaliQ9BQ66.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123756. 109 interactions.
IntActiQ9BQ66. 105 interactions.
MINTiMINT-1441052.

Polymorphism and mutation databases

BioMutaiKRTAP4-12.
DMDMi38258229.

Proteomic databases

PaxDbiQ9BQ66.
PRIDEiQ9BQ66.

Protocols and materials databases

DNASUi83755.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394014; ENSP00000377582; ENSG00000213416.
ENST00000571271; ENSP00000458979; ENSG00000263236.
GeneIDi83755.
KEGGihsa:83755.
UCSCiuc002hwa.3. human.

Organism-specific databases

CTDi83755.
GeneCardsiGC17M039280.
HGNCiHGNC:16776. KRTAP4-12.
neXtProtiNX_Q9BQ66.
PharmGKBiPA38416.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00780000121921.
HOGENOMiHOG000234030.
InParanoidiQ9BQ66.
OMAiCISSSCR.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii83755.
NextBioi72781.
PROiQ9BQ66.

Gene expression databases

BgeeiQ9BQ66.
CleanExiHS_KRTAP4-12.
GenevisibleiQ9BQ66. HS.

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. "Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21."
    Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., Korn B., Schweizer J.
    J. Biol. Chem. 276:19440-19451(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Scalp.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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].
    Tissue: Muscle.
  4. "Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family."
    Kariya N., Shimomura Y., Ito M.
    J. Invest. Dermatol. 124:1111-1118(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, POLYMORPHISM, VARIANT 105-CYS--SER-144 DEL.

Entry informationi

Entry nameiKR412_HUMAN
AccessioniPrimary (citable) accession number: Q9BQ66
Secondary accession number(s): A3KMC5, Q495I0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2001
Last modified: June 24, 2015
This is version 97 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 17
    Human chromosome 17: 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. 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.