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Protein

Keratin-associated protein 4-11

Gene

KRTAP4-11

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 4-11
Alternative name(s):
Keratin-associated protein 4-14
Keratin-associated protein 4.11
Keratin-associated protein 4.14
Ultrahigh sulfur keratin-associated protein 4.14
Gene namesi
Name:KRTAP4-11
Synonyms:KAP4.14, KRTAP4-14, KRTAP4.11, KRTAP4.14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18911. KRTAP4-11.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38759.

Polymorphism and mutation databases

BioMutaiKRTAP4-11.
DMDMi296434556.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 195195Keratin-associated protein 4-11PRO_0000185180Add
BLAST

Proteomic databases

PaxDbiQ9BYQ6.
PRIDEiQ9BYQ6.

Expressioni

Tissue specificityi

Expressed in the hair follicles.1 Publication

Gene expression databases

BgeeiQ9BYQ6.
CleanExiHS_KRTAP4-11.
GenevisibleiQ9BYQ6. HS.

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-10302392,EBI-10173507
CATSPER1Q8NEC53EBI-10302392,EBI-744545
GLRX3O760033EBI-10302392,EBI-374781
HOXA1P496393EBI-10302392,EBI-740785
KRTAP10-8P604103EBI-10302392,EBI-10171774
KRTAP10-9P604113EBI-10302392,EBI-10172052
KRTAP5-9P263713EBI-10302392,EBI-3958099
MEOX2A4D1273EBI-10302392,EBI-10172134
NOTCH2NLQ7Z3S93EBI-10302392,EBI-945833
NUFIP2A1L3A73EBI-10302392,EBI-10172018
OTX1P322423EBI-10302392,EBI-740446
PLSCR1O151623EBI-10302392,EBI-740019
SMCPP499013EBI-10302392,EBI-750494
SPRY2O435973EBI-10302392,EBI-742487

Protein-protein interaction databases

BioGridi575632. 15 interactions.
IntActiQ9BYQ6. 14 interactions.
STRINGi9606.ENSP00000375232.

Structurei

3D structure databases

ProteinModelPortaliQ9BYQ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati5 – 951
Repeati24 – 2852
Repeati29 – 3353
Repeati34 – 3854
Repeati44 – 4855
Repeati49 – 5356
Repeati54 – 5857
Repeati59 – 6358
Repeati64 – 6859
Repeati69 – 73510
Repeati74 – 78511
Repeati79 – 83512
Repeati84 – 88513
Repeati89 – 93514
Repeati94 – 98515
Repeati99 – 103516
Repeati104 – 108517
Repeati109 – 113518
Repeati114 – 118519
Repeati119 – 123520
Repeati124 – 128521
Repeati129 – 133522
Repeati134 – 138523
Repeati144 – 148524
Repeati149 – 153525
Repeati154 – 158526
Repeati159 – 163527

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni5 – 16315927 X 5 AA repeats of C-C-[GIKRQVHEL]-[SPTR]-[STVQRMC]Add
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 4 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00810000125453.
HOGENOMiHOG000234030.
InParanoidiQ9BYQ6.
OMAiCCWLSCC.
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.

Q9BYQ6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVNSCCGSVC SHQGCGRDLC QETCCRPSCC ETTCCRTTYC RPSCCVSSCC
60 70 80 90 100
RPQCCQSVCC QPTCCRPRCC ISSCCRPSCC VSSCCKPQCC QSMCCQPTCC
110 120 130 140 150
RPRCCISSCC RPSCCVSSCC RPQCCQSVCC QPTCCHPSCS ISSCCRPSCC
160 170 180 190
ESSCCRPCCC LRPVCGRVSC HTTCYRPTCV ISSCPRPLCC ASSCC
Length:195
Mass (Da):20,927
Last modified:May 18, 2010 - v2
Checksum:i99FB5C3FBB788BCA
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti17 – 171R → Q in CAC27583 (PubMed:11279113).Curated
Sequence conflicti17 – 171R → Q in AAI26132 (PubMed:15489334).Curated
Sequence conflicti17 – 171R → Q in AAI30563 (PubMed:15489334).Curated
Sequence conflicti167 – 1671R → G in CAC27583 (PubMed:11279113).Curated
Sequence conflicti167 – 1671R → G in AAI26132 (PubMed:15489334).Curated
Sequence conflicti167 – 1671R → G in AAI30563 (PubMed:15489334).Curated

Polymorphismi

Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084).1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 7835Missing in allele KAP4.14. 1 Publication
VAR_064553Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406944 mRNA. Translation: CAC27583.1.
AC100808 Genomic DNA. No translation available.
BC126131 mRNA. Translation: AAI26132.1.
BC130562 mRNA. Translation: AAI30563.1.
CCDSiCCDS45675.1.
RefSeqiNP_149048.2. NM_033059.3.
UniGeneiHs.307015.

Genome annotation databases

EnsembliENST00000391413; ENSP00000375232; ENSG00000212721.
ENST00000573418; ENSP00000460506; ENSG00000263229.
GeneIDi653240.
KEGGihsa:653240.
UCSCiuc002hvz.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406944 mRNA. Translation: CAC27583.1.
AC100808 Genomic DNA. No translation available.
BC126131 mRNA. Translation: AAI26132.1.
BC130562 mRNA. Translation: AAI30563.1.
CCDSiCCDS45675.1.
RefSeqiNP_149048.2. NM_033059.3.
UniGeneiHs.307015.

3D structure databases

ProteinModelPortaliQ9BYQ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi575632. 15 interactions.
IntActiQ9BYQ6. 14 interactions.
STRINGi9606.ENSP00000375232.

Polymorphism and mutation databases

BioMutaiKRTAP4-11.
DMDMi296434556.

Proteomic databases

PaxDbiQ9BYQ6.
PRIDEiQ9BYQ6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000391413; ENSP00000375232; ENSG00000212721.
ENST00000573418; ENSP00000460506; ENSG00000263229.
GeneIDi653240.
KEGGihsa:653240.
UCSCiuc002hvz.5. human.

Organism-specific databases

CTDi653240.
GeneCardsiKRTAP4-11.
H-InvDBHIX0039680.
HGNCiHGNC:18911. KRTAP4-11.
neXtProtiNX_Q9BYQ6.
PharmGKBiPA38759.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00810000125453.
HOGENOMiHOG000234030.
InParanoidiQ9BYQ6.
OMAiCCWLSCC.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii653240.
PROiQ9BYQ6.

Gene expression databases

BgeeiQ9BYQ6.
CleanExiHS_KRTAP4-11.
GenevisibleiQ9BYQ6. 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].
  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 44-CYS--SER-78 DEL.

Entry informationi

Entry nameiKR411_HUMAN
AccessioniPrimary (citable) accession number: Q9BYQ6
Secondary accession number(s): A0AUY2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: May 18, 2010
Last modified: June 8, 2016
This is version 104 of the entry and version 2 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

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.