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Q9BQ66 (KR412_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin-associated protein 4-12
Alternative name(s):
Keratin-associated protein 4.12
Ultrahigh sulfur keratin-associated protein 4.12
Gene names
Name:KRTAP4-12
Synonyms:KAP4.12, KRTAP4.12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length201 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with hair keratins.

Tissue specificity

Expressed in the hair follicles. Ref.4

Polymorphism

Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments.

Sequence similarities

Belongs to the KRTAP type 4 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...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Hoxa1P090224EBI-739863,EBI-3957603From a different organism.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 201201Keratin-associated protein 4-12
PRO_0000185178

Regions

Repeat5 – 951
Repeat20 – 2452
Repeat25 – 2953
Repeat30 – 3454
Repeat35 – 3955
Repeat40 – 4456
Repeat45 – 4957
Repeat50 – 5458
Repeat55 – 5959
Repeat60 – 64510
Repeat65 – 69511
Repeat70 – 74512
Repeat75 – 79513
Repeat80 – 84514
Repeat85 – 89515
Repeat90 – 94516
Repeat95 – 99517
Repeat100 – 104518
Repeat105 – 109519
Repeat110 – 114520
Repeat115 – 119521
Repeat120 – 124522
Repeat125 – 129523
Repeat130 – 134524
Repeat135 – 139525
Repeat140 – 144526
Repeat145 – 149527
Repeat155 – 159528
Repeat160 – 164529
Repeat165 – 169530
Region5 – 16916531 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]-[VSTQPC]

Natural variations

Natural variant105 – 14440Missing in allele KAP4.12-v1.
VAR_064563

Sequences

Sequence LengthMass (Da)Tools
Q9BQ66 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 7548ED69BF432804

FASTA20121,407
        10         20         30         40         50         60 
MVNSCCGSVC SDQGCGLENC CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC 

        70         80         90        100        110        120 
CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC CRPSCCQTTC CRTTCCRPSC 

       130        140        150        160        170        180 
CVSSCCRPQC CQSVCCQPTC CRPSCCISSS CCPSCCESSC CRPCCCLRPV CGRVSCHTTC 

       190        200 
YRPTCVISTC PRPLCCASSC C 

« Hide

References

« Hide 'large scale' references
[1]"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].
Tissue: Scalp.
[2]"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. expand/collapse author list , 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].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Muscle.
[4]"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 105-CYS--SER-144 DEL.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_114060.1. NM_031854.2.
UniGeneHs.572443.

3D structure databases

ProteinModelPortalQ9BQ66.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123756. 77 interactions.
IntActQ9BQ66. 75 interactions.
MINTMINT-1441052.
STRING9606.ENSP00000377582.

Polymorphism databases

DMDM38258229.

Proteomic databases

PaxDbQ9BQ66.
PRIDEQ9BQ66.

Protocols and materials databases

DNASU83755.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000394014; ENSP00000377582; ENSG00000213416.
ENST00000571271; ENSP00000458979; ENSG00000263236.
GeneID83755.
KEGGhsa:83755.
UCSCuc002hwa.3. human.

Organism-specific databases

CTD83755.
GeneCardsGC17M039280.
HGNCHGNC:16776. KRTAP4-12.
neXtProtNX_Q9BQ66.
PharmGKBPA38416.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000234030.
InParanoidQ9BQ66.
OMASCRPNYV.
TreeFamTF351356.

Gene expression databases

BgeeQ9BQ66.
CleanExHS_KRTAP4-12.
GenevestigatorQ9BQ66.

Family and domain databases

InterProIPR002494. Keratin-assoc.
[Graphical view]
PANTHERPTHR23262. PTHR23262. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi83755.
NextBio72781.
PROQ9BQ66.

Entry information

Entry nameKR412_HUMAN
AccessionPrimary (citable) accession number: Q9BQ66
Secondary accession number(s): A3KMC5, Q495I0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2001
Last modified: February 19, 2014
This is version 87 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 entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM