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Protein

Keratin-associated protein 4-9

Gene

KRTAP4-9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript 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

  • aging Source: UniProtKB
  • hair cycle Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin-associated protein 4-9
Alternative name(s):
Keratin-associated protein 4.9
Ultrahigh sulfur keratin-associated protein 4.9
Gene namesi
Name:KRTAP4-9
Synonyms:KAP4.9, KRTAP4.9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18910. KRTAP4-9.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiKRTAP4-9.
DMDMi322510041.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 210210Keratin-associated protein 4-9PRO_0000185176Add
BLAST

Proteomic databases

PaxDbiQ9BYQ8.
PeptideAtlasiQ9BYQ8.
PRIDEiQ9BYQ8.

Expressioni

Tissue specificityi

Expressed in the hair follicles.1 Publication

Gene expression databases

BgeeiQ9BYQ8.
CleanExiHS_KRTAP4-9.
ExpressionAtlasiQ9BYQ8. baseline and differential.
GenevisibleiQ9BYQ8. HS.

Interactioni

Subunit structurei

Interacts with hair keratins.

Protein-protein interaction databases

STRINGi9606.ENSP00000375234.

Structurei

3D structure databases

ProteinModelPortaliQ9BYQ8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati24 – 2851
Repeati29 – 3352
Repeati34 – 3853
Repeati39 – 4354
Repeati44 – 4855
Repeati49 – 5356
Repeati54 – 5857
Repeati59 – 6358
Repeati69 – 7359
Repeati74 – 78510
Repeati84 – 88512
Repeati89 – 93513
Repeati94 – 98514
Repeati99 – 103515
Repeati104 – 108516
Repeati109 – 113517
Repeati114 – 118518
Repeati119 – 123519
Repeati124 – 128520
Repeati129 – 133521
Repeati134 – 138522
Repeati139 – 143523
Repeati144 – 148524
Repeati149 – 153525
Repeati159 – 163526
Repeati164 – 168527
Repeati169 – 173528
Repeati174 – 178529

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni24 – 17815529 X 5 AA repeats of C-C-[RQVHIEK]-[SPTR]-[VSTQCRNP]Add
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 4 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00810000125453.
HOGENOMiHOG000234030.
InParanoidiQ9BYQ8.
OMAiFRQEESC.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF01500. Keratin_B2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BYQ8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVSSCCGSVC SDQGCGQDLC QETCCRPSCC ETTCCRTTCC RPSCCVSSCC
60 70 80 90 100
RPQCCQSVCC QPTCSRPSCC QTTCCRTTCY RPSCCVSSCC RPQCCQPACC
110 120 130 140 150
QPTCCRPSCC ETTCCHPRCC ISSCCRPSCC VSSCCKPQCC QSVCCQPNCC
160 170 180 190 200
RPSCSISSCC RPSCCESSCC RPCCCVRPVC GRVSCHTTCY RPTCVISSCP
210
RPLCCASSCC
Length:210
Mass (Da):22,405
Last modified:February 8, 2011 - v2
Checksum:i77DF230174A5C2A4
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti98 – 981A → V in CAC27580 (PubMed:11279113).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 varianti66 – 7712Missing in allele KAP.9-v1.
VAR_064552Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC100808 Genomic DNA. No translation available.
AJ406941 mRNA. Translation: CAC27580.1.
CCDSiCCDS54124.1.
RefSeqiNP_001139513.1. NM_001146041.1.
UniGeneiHs.307018.

Genome annotation databases

EnsembliENST00000391415; ENSP00000375234; ENSG00000212722.
GeneIDi100132386.
KEGGihsa:100132386.
UCSCiuc010wfp.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC100808 Genomic DNA. No translation available.
AJ406941 mRNA. Translation: CAC27580.1.
CCDSiCCDS54124.1.
RefSeqiNP_001139513.1. NM_001146041.1.
UniGeneiHs.307018.

3D structure databases

ProteinModelPortaliQ9BYQ8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000375234.

Polymorphism and mutation databases

BioMutaiKRTAP4-9.
DMDMi322510041.

Proteomic databases

PaxDbiQ9BYQ8.
PeptideAtlasiQ9BYQ8.
PRIDEiQ9BYQ8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000391415; ENSP00000375234; ENSG00000212722.
GeneIDi100132386.
KEGGihsa:100132386.
UCSCiuc010wfp.3. human.

Organism-specific databases

CTDi100132386.
GeneCardsiKRTAP4-9.
HGNCiHGNC:18910. KRTAP4-9.
neXtProtiNX_Q9BYQ8.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00810000125453.
HOGENOMiHOG000234030.
InParanoidiQ9BYQ8.
OMAiFRQEESC.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii100132386.
PROiQ9BYQ8.

Gene expression databases

BgeeiQ9BYQ8.
CleanExiHS_KRTAP4-9.
ExpressionAtlasiQ9BYQ8. baseline and differential.
GenevisibleiQ9BYQ8. HS.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF01500. Keratin_B2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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].
  2. "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] OF 20-210.
    Tissue: Scalp.
  3. "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 66-HIS--CYS-77 DEL.

Entry informationi

Entry nameiKRA49_HUMAN
AccessioniPrimary (citable) accession number: Q9BYQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: February 8, 2011
Last modified: July 6, 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.