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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...

Enzyme and pathway databases

BioCyciZFISH:G66-32682-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.

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

Organism-specific databases

OpenTargetsiENSG00000212722.

Polymorphism and mutation databases

BioMutaiKRTAP4-9.
DMDMi322510041.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001851761 – 210Keratin-associated protein 4-9Add BLAST210

Proteomic databases

PaxDbiQ9BYQ8.
PeptideAtlasiQ9BYQ8.
PRIDEiQ9BYQ8.

Expressioni

Tissue specificityi

Expressed in the hair follicles.1 Publication

Gene expression databases

BgeeiENSG00000212722.
CleanExiHS_KRTAP4-9.
ExpressionAtlasiQ9BYQ8. baseline and differential.
GenevisibleiQ9BYQ8. HS.

Organism-specific databases

HPAiCAB016204.

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)DescriptionActionsGraphical viewLength
Repeati24 – 2815
Repeati29 – 3325
Repeati34 – 3835
Repeati39 – 4345
Repeati44 – 4855
Repeati49 – 5365
Repeati54 – 5875
Repeati59 – 6385
Repeati69 – 7395
Repeati74 – 78105
Repeati84 – 88125
Repeati89 – 93135
Repeati94 – 98145
Repeati99 – 103155
Repeati104 – 108165
Repeati109 – 113175
Repeati114 – 118185
Repeati119 – 123195
Repeati124 – 128205
Repeati129 – 133215
Repeati134 – 138225
Repeati139 – 143235
Repeati144 – 148245
Repeati149 – 153255
Repeati159 – 163265
Repeati164 – 168275
Repeati169 – 173285
Repeati174 – 178295

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni24 – 17829 X 5 AA repeats of C-C-[RQVHIEK]-[SPTR]-[VSTQCRNP]Add BLAST155

Sequence similaritiesi

Belongs to the KRTAP type 4 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00850000132280.
HOGENOMiHOG000234030.
InParanoidiQ9BYQ8.
OMAiICVISSC.
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)DescriptionActionsGraphical viewLength
Sequence conflicti98A → V in CAC27580 (PubMed:11279113).Curated1

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06455266 – 77Missing in allele KAP.9-v1. Add BLAST12

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.
HPAiCAB016204.
neXtProtiNX_Q9BYQ8.
OpenTargetsiENSG00000212722.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00850000132280.
HOGENOMiHOG000234030.
InParanoidiQ9BYQ8.
OMAiICVISSC.
TreeFamiTF351356.

Enzyme and pathway databases

BioCyciZFISH:G66-32682-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.

Miscellaneous databases

GenomeRNAii100132386.
PROiQ9BYQ8.

Gene expression databases

BgeeiENSG00000212722.
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...

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: November 30, 2016
This is version 108 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.