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Q9BQ66

- KR412_HUMAN

UniProt

Q9BQ66 - KR412_HUMAN

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Protein

Keratin-associated protein 4-12

Gene

KRTAP4-12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:16776. KRTAP4-12.

Subcellular locationi

GO - Cellular componenti

  1. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38416.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 201201Keratin-associated protein 4-12PRO_0000185178Add
BLAST

Proteomic databases

PaxDbiQ9BQ66.
PRIDEiQ9BQ66.

Expressioni

Tissue specificityi

Expressed in the hair follicles.1 Publication

Gene expression databases

BgeeiQ9BQ66.
CleanExiHS_KRTAP4-12.
GenevestigatoriQ9BQ66.

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
Hoxa1P090224EBI-739863,EBI-3957603From a different organism.

Protein-protein interaction databases

BioGridi123756. 77 interactions.
IntActiQ9BQ66. 75 interactions.
MINTiMINT-1441052.
STRINGi9606.ENSP00000377582.

Structurei

3D structure databases

ProteinModelPortaliQ9BQ66.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati5 – 951
Repeati20 – 2452
Repeati25 – 2953
Repeati30 – 3454
Repeati35 – 3955
Repeati40 – 4456
Repeati45 – 4957
Repeati50 – 5458
Repeati55 – 5959
Repeati60 – 64510
Repeati65 – 69511
Repeati70 – 74512
Repeati75 – 79513
Repeati80 – 84514
Repeati85 – 89515
Repeati90 – 94516
Repeati95 – 99517
Repeati100 – 104518
Repeati105 – 109519
Repeati110 – 114520
Repeati115 – 119521
Repeati120 – 124522
Repeati125 – 129523
Repeati130 – 134524
Repeati135 – 139525
Repeati140 – 144526
Repeati145 – 149527
Repeati155 – 159528
Repeati160 – 164529
Repeati165 – 169530

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni5 – 16916531 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]-[VSTQPC]Add
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 4 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00730000110544.
HOGENOMiHOG000234030.
InParanoidiQ9BQ66.
OMAiSCRPNYV.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 2 hits.
[Graphical view]

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 14440Missing in allele KAP4.12-v1. 1 Publication
VAR_064563Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi38258229.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS32649.1.
RefSeqi NP_114060.1. NM_031854.2.
UniGenei Hs.572443.

3D structure databases

ProteinModelPortali Q9BQ66.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123756. 77 interactions.
IntActi Q9BQ66. 75 interactions.
MINTi MINT-1441052.
STRINGi 9606.ENSP00000377582.

Polymorphism databases

DMDMi 38258229.

Proteomic databases

PaxDbi Q9BQ66.
PRIDEi Q9BQ66.

Protocols and materials databases

DNASUi 83755.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000394014 ; ENSP00000377582 ; ENSG00000213416 .
ENST00000571271 ; ENSP00000458979 ; ENSG00000263236 .
GeneIDi 83755.
KEGGi hsa:83755.
UCSCi uc002hwa.3. human.

Organism-specific databases

CTDi 83755.
GeneCardsi GC17M039280.
HGNCi HGNC:16776. KRTAP4-12.
neXtProti NX_Q9BQ66.
PharmGKBi PA38416.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00730000110544.
HOGENOMi HOG000234030.
InParanoidi Q9BQ66.
OMAi SCRPNYV.
TreeFami TF351356.

Miscellaneous databases

GenomeRNAii 83755.
NextBioi 72781.
PROi Q9BQ66.

Gene expression databases

Bgeei Q9BQ66.
CleanExi HS_KRTAP4-12.
Genevestigatori Q9BQ66.

Family and domain databases

InterProi IPR002494. KAP.
[Graphical view ]
PANTHERi PTHR23262. PTHR23262. 1 hit.
Pfami PF13885. Keratin_B2_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiKR412_HUMAN
AccessioniPrimary (citable) accession number: Q9BQ66
Secondary accession number(s): A3KMC5, Q495I0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2001
Last modified: October 29, 2014
This is version 92 of the entry and version 1 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

External Data

Dasty 3