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Protein

Keratin-associated protein 4-1

Gene

KRTAP4-1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin-associated protein 4-1
Alternative name(s):
Keratin-associated protein 4-10
Keratin-associated protein 4.1
Keratin-associated protein 4.10
Ultrahigh sulfur keratin-associated protein 4.10
Gene namesi
Name:KRTAP4-1
Synonyms:KAP4.10, KRTAP4-10, KRTAP4.1, KRTAP4.10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000198443.6
HGNCiHGNC:18907 KRTAP4-1
neXtProtiNX_Q9BYQ7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000198443
PharmGKBiPA38755

Polymorphism and mutation databases

BioMutaiKRTAP4-1
DMDMi322510119

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001851771 – 146Keratin-associated protein 4-1Add BLAST146

Proteomic databases

PaxDbiQ9BYQ7
PeptideAtlasiQ9BYQ7
PRIDEiQ9BYQ7
ProteomicsDBi79687

Expressioni

Tissue specificityi

Expressed in the hair follicles.1 Publication

Gene expression databases

BgeeiENSG00000198443 Expressed in 25 organ(s), highest expression level in upper arm skin
CleanExiHS_KRTAP4-1
ExpressionAtlasiQ9BYQ7 baseline and differential
GenevisibleiQ9BYQ7 HS

Interactioni

Subunit structurei

Interacts with hair keratins.

Protein-protein interaction databases

STRINGi9606.ENSP00000381489

Structurei

3D structure databases

ProteinModelPortaliQ9BYQ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati5 – 915
Repeati24 – 2825
Repeati29 – 3335
Repeati34 – 3845
Repeati44 – 4855
Repeati54 – 5865
Repeati59 – 6375
Repeati64 – 6885
Repeati69 – 7395
Repeati83 – 87105
Repeati88 – 92115
Repeati102 – 106125
Repeati107 – 111135
Repeati121 – 125145
Repeati126 – 130155
Repeati131 – 135165
Repeati136 – 140175
Repeati141 – 145185

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni5 – 14518 X 5 AA repeats of C-C-[GRQC]-[SPT]-[VSTL]Add BLAST141

Sequence similaritiesi

Belongs to the KRTAP type 4 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4726 Eukaryota
ENOG410XY8D LUCA
GeneTreeiENSGT00880000137902
HOGENOMiHOG000234030
HOVERGENiHBG108074
InParanoidiQ9BYQ7
OMAiQTTCRPT
OrthoDBiEOG091G0Y6N
PhylomeDBiQ9BYQ7
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9BYQ7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVNSCCGSVC SDQGCDQGLC QETCCRPSCC QTTCCCPSCV VSSCCRPSCS
60 70 80 90 100
QTTCCQTTCC RPSCCHPVCC QTTCRPSCGV SSCCRPLCCQ TTCHPSCGMS
110 120 130 140
SCCRPLCCQT TCRPSCGVSS CCRPLCCQTT CCRATCCRPS CCGSSC
Length:146
Mass (Da):15,241
Last modified:February 8, 2011 - v3
Checksum:iCC8A16F0519C3DA5
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WY89A0A087WY89_HUMAN
Keratin-associated protein 4-1
KRTAP4-1
127Annotation score:

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_04704466H → R3 PublicationsCorresponds to variant dbSNP:rs2320231Ensembl.1
Natural variantiVAR_06455083 – 101Missing in allele KAP4.10. 1 PublicationAdd BLAST19
Natural variantiVAR_047045115S → R1 PublicationCorresponds to variant dbSNP:rs35382039Ensembl.1
Natural variantiVAR_047046134A → T3 PublicationsCorresponds to variant dbSNP:rs398825Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406942 mRNA Translation: CAC27581.1
AC006070 Genomic DNA No translation available.
BC103845 mRNA Translation: AAI03846.1
BC103846 mRNA Translation: AAI03847.1
RefSeqiNP_149049.1, NM_033060.2
UniGeneiHs.437079

Genome annotation databases

EnsembliENST00000398472; ENSP00000381489; ENSG00000198443
GeneIDi85285
KEGGihsa:85285
UCSCiuc060fau.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406942 mRNA Translation: CAC27581.1
AC006070 Genomic DNA No translation available.
BC103845 mRNA Translation: AAI03846.1
BC103846 mRNA Translation: AAI03847.1
RefSeqiNP_149049.1, NM_033060.2
UniGeneiHs.437079

3D structure databases

ProteinModelPortaliQ9BYQ7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000381489

Polymorphism and mutation databases

BioMutaiKRTAP4-1
DMDMi322510119

Proteomic databases

PaxDbiQ9BYQ7
PeptideAtlasiQ9BYQ7
PRIDEiQ9BYQ7
ProteomicsDBi79687

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398472; ENSP00000381489; ENSG00000198443
GeneIDi85285
KEGGihsa:85285
UCSCiuc060fau.1 human

Organism-specific databases

CTDi85285
EuPathDBiHostDB:ENSG00000198443.6
GeneCardsiKRTAP4-1
HGNCiHGNC:18907 KRTAP4-1
neXtProtiNX_Q9BYQ7
OpenTargetsiENSG00000198443
PharmGKBiPA38755
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4726 Eukaryota
ENOG410XY8D LUCA
GeneTreeiENSGT00880000137902
HOGENOMiHOG000234030
HOVERGENiHBG108074
InParanoidiQ9BYQ7
OMAiQTTCRPT
OrthoDBiEOG091G0Y6N
PhylomeDBiQ9BYQ7
TreeFamiTF351356

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization

Miscellaneous databases

GenomeRNAii85285
PROiPR:Q9BYQ7

Gene expression databases

BgeeiENSG00000198443 Expressed in 25 organ(s), highest expression level in upper arm skin
CleanExiHS_KRTAP4-1
ExpressionAtlasiQ9BYQ7 baseline and differential
GenevisibleiQ9BYQ7 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 nameiKRA41_HUMAN
AccessioniPrimary (citable) accession number: Q9BYQ7
Secondary accession number(s): A8MWS7, Q3SYF2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: February 8, 2011
Last modified: September 12, 2018
This is version 114 of the entry and version 3 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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