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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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:16776. KRTAP4-12.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000213416.
ENSG00000263236.
PharmGKBiPA38416.

Polymorphism and mutation databases

BioMutaiKRTAP4-12.
DMDMi38258229.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001851781 – 201Keratin-associated protein 4-12Add BLAST201

Proteomic databases

PaxDbiQ9BQ66.
PeptideAtlasiQ9BQ66.
PRIDEiQ9BQ66.

Expressioni

Tissue specificityi

Expressed in the hair follicles.1 Publication

Gene expression databases

BgeeiENSG00000213416.
CleanExiHS_KRTAP4-12.
GenevisibleiQ9BQ66. HS.

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi123756. 110 interactors.
IntActiQ9BQ66. 129 interactors.
MINTiMINT-1441052.
STRINGi9606.ENSP00000377582.

Structurei

3D structure databases

ProteinModelPortaliQ9BQ66.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati5 – 915
Repeati20 – 2425
Repeati25 – 2935
Repeati30 – 3445
Repeati35 – 3955
Repeati40 – 4465
Repeati45 – 4975
Repeati50 – 5485
Repeati55 – 5995
Repeati60 – 64105
Repeati65 – 69115
Repeati70 – 74125
Repeati75 – 79135
Repeati80 – 84145
Repeati85 – 89155
Repeati90 – 94165
Repeati95 – 99175
Repeati100 – 104185
Repeati105 – 109195
Repeati110 – 114205
Repeati115 – 119215
Repeati120 – 124225
Repeati125 – 129235
Repeati130 – 134245
Repeati135 – 139255
Repeati140 – 144265
Repeati145 – 149275
Repeati155 – 159285
Repeati160 – 164295
Repeati165 – 169305

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni5 – 16931 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]-[VSTQPC]Add BLAST165

Sequence similaritiesi

Belongs to the KRTAP type 4 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00850000132280.
HOGENOMiHOG000234030.
InParanoidiQ9BQ66.
OMAiRRRRCWC.
TreeFamiTF351356.

Family and domain databases

InterProiView protein in InterPro
IPR002494. KAP.
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiView protein in Pfam
PF13885. Keratin_B2_2. 2 hits.

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 (PubMed:15955084).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064563105 – 144Missing in allele KAP4.12-v1. 1 PublicationAdd BLAST40

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.4. 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. 110 interactors.
IntActiQ9BQ66. 129 interactors.
MINTiMINT-1441052.
STRINGi9606.ENSP00000377582.

Polymorphism and mutation databases

BioMutaiKRTAP4-12.
DMDMi38258229.

Proteomic databases

PaxDbiQ9BQ66.
PeptideAtlasiQ9BQ66.
PRIDEiQ9BQ66.

Protocols and materials databases

DNASUi83755.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394014; ENSP00000377582; ENSG00000213416.
ENST00000571271; ENSP00000458979; ENSG00000263236.
GeneIDi83755.
KEGGihsa:83755.
UCSCiuc002hwa.4. human.

Organism-specific databases

CTDi83755.
GeneCardsiKRTAP4-12.
HGNCiHGNC:16776. KRTAP4-12.
neXtProtiNX_Q9BQ66.
OpenTargetsiENSG00000213416.
ENSG00000263236.
PharmGKBiPA38416.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JD6Q. Eukaryota.
ENOG410ZG1J. LUCA.
GeneTreeiENSGT00850000132280.
HOGENOMiHOG000234030.
InParanoidiQ9BQ66.
OMAiRRRRCWC.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii83755.
PROiQ9BQ66.

Gene expression databases

BgeeiENSG00000213416.
CleanExiHS_KRTAP4-12.
GenevisibleiQ9BQ66. HS.

Family and domain databases

InterProiView protein in InterPro
IPR002494. KAP.
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiView protein in Pfam
PF13885. Keratin_B2_2. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiKR412_HUMAN
AccessioniPrimary (citable) accession number: Q9BQ66
Secondary accession number(s): A3KMC5, Q495I0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2001
Last modified: February 15, 2017
This is version 113 of the entry and version 1 of the sequence. See 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.