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Q6L8H2 (KRA53_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin-associated protein 5-3
Alternative name(s):
Keratin-associated protein 5-9
Keratin-associated protein 5.3
Keratin-associated protein 5.9
UHS KerB-like
Ultrahigh sulfur keratin-associated protein 5.3
Gene names
Name:KRTAP5-3
Synonyms:KAP5-9, KAP5.3, KRTAP5-9, KRTAP5.3, KRTAP5.9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length238 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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.

Subunit structure

Interacts with hair keratins.

Tissue specificity

Restricted to hair root, not detected in any other tissues. Ref.1

Sequence similarities

Belongs to the KRTAP type 5 family.

Ontologies

Keywords
   Cellular componentKeratin
   Coding sequence diversityPolymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentkeratin filament

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 238238Keratin-associated protein 5-3
PRO_0000184101

Regions

Repeat35 – 3841
Repeat41 – 4442
Repeat47 – 5043
Repeat91 – 9444
Repeat150 – 15345
Repeat160 – 16346
Repeat170 – 17347
Repeat189 – 19248
Repeat199 – 20249
Repeat218 – 221410
Repeat228 – 231411
Region35 – 23119711 X 4 AA repeats of C-C-X-P

Natural variations

Natural variant271G → S.
Corresponds to variant rs7129002 [ dbSNP | Ensembl ].
VAR_060115
Natural variant281Y → C.
Corresponds to variant rs7108370 [ dbSNP | Ensembl ].
VAR_060116
Natural variant731C → S.
Corresponds to variant rs7125831 [ dbSNP | Ensembl ].
VAR_060117
Natural variant761G → V.
Corresponds to variant rs7125826 [ dbSNP | Ensembl ].
VAR_060118
Natural variant831S → C.
Corresponds to variant rs7113784 [ dbSNP | Ensembl ].
VAR_060119

Experimental info

Sequence conflict41S → C in AAT09005. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q6L8H2 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: E3D415F060B6DC4B

FASTA23822,106
        10         20         30         40         50         60 
MGCSGCSGGC GSSCGGCGSS CGGCGSGYGG CGSGCCVPVC CCKPVCCCVP ACSCSSCGSC 

        70         80         90        100        110        120 
GGSKGVCGSC GGCKGGCGSC GGSKGGCGSS CCVPVCCSSS CGSCGGSKGV CGFRGGSKGG 

       130        140        150        160        170        180 
CGSCGCSQCS CYKPCCCSSG CGSSCCQSSC CKPSCSQSSC CKPCCSQSSC CKPCCCSSGC 

       190        200        210        220        230 
GSSCCQSSCC KPCCSQSSCC KPCCCSSGCG SSCCQSSCCK PCSSQSSCCV PICCQCKI 

« Hide

References

« Hide 'large scale' references
[1]"Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11."
Yahagi S., Shibuya K., Obayashi I., Masaki H., Kurata Y., Kudoh J., Shimizu N.
Biochem. Biophys. Res. Commun. 318:655-664(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Hair root.
[2]"Characterization of two domains of keratin associated protein (KAP) family members on human chromosome 11."
Rogers M.A., Langbein L., Winter H., Praetzel S., Schweizer J.
Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 72-238.
Tissue: Scalp.
[3]Li H., Zhong G., Zhou G., Shen C., Ke R., Lin L., Yang S.
Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB126072 mRNA. Translation: BAD20199.1.
AJ628246 mRNA. Translation: CAF31638.1.
AY597812 mRNA. Translation: AAT09005.1.
CCDSCCDS41591.1.
RefSeqNP_001012726.1. NM_001012708.2.
UniGeneHs.532471.

3D structure databases

ProteinModelPortalQ6L8H2.
SMRQ6L8H2. Positions 141-216.
ModBaseSearch...
MobiDBSearch...

Proteomic databases

PaxDbQ6L8H2.
PRIDEQ6L8H2.

Protocols and materials databases

DNASU387266.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000399685; ENSP00000382592; ENSG00000196224.
GeneID387266.
KEGGhsa:387266.
UCSCuc001ltw.1. human.

Organism-specific databases

CTD387266.
GeneCardsGC11M001628.
HGNCHGNC:23598. KRTAP5-3.
neXtProtNX_Q6L8H2.
PharmGKBPA134865306.
GenAtlasSearch...

Phylogenomic databases

OMACGGSKGV.

Gene expression databases

CleanExHS_KRTAP5-3.
HS_KRTAP5-9.
GenevestigatorQ6L8H2.

Family and domain databases

InterProIPR002494. KAP.
[Graphical view]
PANTHERPTHR23262. PTHR23262. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi387266.
NextBio101252.
PROQ6L8H2.

Entry information

Entry nameKRA53_HUMAN
AccessionPrimary (citable) accession number: Q6L8H2
Secondary accession number(s): Q6PL44, Q701N3
Entry history
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 72 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM