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Protein

Keratin-associated protein 9-4

Gene

KRTAP9-4

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 9-4
Alternative name(s):
Keratin-associated protein 9.4
Ultrahigh sulfur keratin-associated protein 9.4
Gene namesi
Name:KRTAP9-4
Synonyms:KAP9.4, KRTAP9.4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18902. KRTAP9-4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38750.

Polymorphism and mutation databases

BioMutaiKRTAP9-4.
DMDMi296434558.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 154154Keratin-associated protein 9-4PRO_0000185190Add
BLAST

Proteomic databases

EPDiQ9BYQ2.
PaxDbiQ9BYQ2.
PeptideAtlasiQ9BYQ2.

Expressioni

Gene expression databases

BgeeiQ9BYQ2.
CleanExiHS_KRTAP9-4.
GenevisibleiQ9BYQ2. HS.

Organism-specific databases

HPAiHPA042482.

Interactioni

Subunit structurei

Interacts with hair keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-10185730,EBI-10173507
CATSPER1Q8NEC53EBI-10185730,EBI-744545
CREB5Q02930-35EBI-10185730,EBI-10192698
DHX57Q6P1583EBI-10185730,EBI-1051531
DHX57Q6P158-23EBI-10185730,EBI-10252144
DOCK2Q926083EBI-10185730,EBI-448771
FBXW5Q969U63EBI-10185730,EBI-741068
HOXA1P496393EBI-10185730,EBI-740785
KRTAP10-5P603705EBI-10185730,EBI-10172150
KRTAP10-8P604103EBI-10185730,EBI-10171774
KRTAP10-9P604113EBI-10185730,EBI-10172052
KRTAP4-2Q9BYR53EBI-10185730,EBI-10172511
KRTAP5-6Q6L8G93EBI-10185730,EBI-10250562
KRTAP5-9P263713EBI-10185730,EBI-3958099
KRTAP9-2Q9BYQ43EBI-10185730,EBI-1044640
LCE1BQ5T7P33EBI-10185730,EBI-10245913
LCE3CQ5T5A83EBI-10185730,EBI-10245291
LCE3EQ5T5B03EBI-10185730,EBI-10245456
LCE4AQ5TA783EBI-10185730,EBI-10246358
MAPKBP1O603363EBI-10185730,EBI-947402
NOTCH2NLQ7Z3S93EBI-10185730,EBI-945833
NUFIP2A1L3A73EBI-10185730,EBI-10172018
OTX1P322425EBI-10185730,EBI-740446
PRKAB2O437413EBI-10185730,EBI-1053424
RELQ048643EBI-10185730,EBI-307352
SMCPP499013EBI-10185730,EBI-750494
SPRY2O435973EBI-10185730,EBI-742487
WDYHV1Q96HA83EBI-10185730,EBI-741158
YIPF3Q9GZM53EBI-10185730,EBI-743787

Protein-protein interaction databases

BioGridi124444. 30 interactions.
IntActiQ9BYQ2. 28 interactions.
STRINGi9606.ENSP00000334922.

Structurei

3D structure databases

ProteinModelPortaliQ9BYQ2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati8 – 1251
Repeati13 – 1752
Repeati18 – 2253
Repeati37 – 4154
Repeati42 – 4655
Repeati51 – 5556
Repeati56 – 6057
Repeati61 – 6558
Repeati70 – 7459
Repeati75 – 79510
Repeati80 – 84511
Repeati85 – 89512
Repeati129 – 133513
Repeati134 – 138514
Repeati148 – 152515

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni8 – 15214515 X 5 AA repeats of C-C-[RQVGE]-[SPTN]-[TASPF]Add
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 9 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410JE2D. Eukaryota.
ENOG41118YY. LUCA.
GeneTreeiENSGT00810000125514.
HOGENOMiHOG000234030.
HOVERGENiHBG096080.
InParanoidiQ9BYQ2.
OrthoDBiEOG7WMCNT.
PhylomeDBiQ9BYQ2.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BYQ2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTHCCSPCCQ PTCCRTTCCR TTCWKPTTVT TCSSTPCCQP SCCVSSCCQP
60 70 80 90 100
CCRPTCCQNT CCQPTCVTSC CQPSCCSTPC CQPTCCGSSC DQSSSCAPVY
110 120 130 140 150
CRRTCYYPTT VCLPGCLNQS CGSNCCQPCC RPACCETTCF QPTCVSSCCQ

PFCC
Length:154
Mass (Da):16,378
Last modified:May 18, 2010 - v2
Checksum:i260D862E16165105
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti146 – 1461S → Y.2 Publications
Corresponds to variant rs62065349 [ dbSNP | Ensembl ].
VAR_060242

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406948 mRNA. Translation: CAC27587.1.
AC006070 Genomic DNA. No translation available.
BC121094 mRNA. Translation: AAI21095.1.
CCDSiCCDS11386.1.
RefSeqiNP_149461.2. NM_033191.2.
UniGeneiHs.528700.

Genome annotation databases

EnsembliENST00000334109; ENSP00000334922; ENSG00000241595.
ENST00000570861; ENSP00000461634; ENSG00000262896.
ENST00000575341; ENSP00000461584; ENSG00000262512.
GeneIDi85280.
KEGGihsa:85280.
UCSCiuc002hwi.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ406948 mRNA. Translation: CAC27587.1.
AC006070 Genomic DNA. No translation available.
BC121094 mRNA. Translation: AAI21095.1.
CCDSiCCDS11386.1.
RefSeqiNP_149461.2. NM_033191.2.
UniGeneiHs.528700.

3D structure databases

ProteinModelPortaliQ9BYQ2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124444. 30 interactions.
IntActiQ9BYQ2. 28 interactions.
STRINGi9606.ENSP00000334922.

Polymorphism and mutation databases

BioMutaiKRTAP9-4.
DMDMi296434558.

Proteomic databases

EPDiQ9BYQ2.
PaxDbiQ9BYQ2.
PeptideAtlasiQ9BYQ2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334109; ENSP00000334922; ENSG00000241595.
ENST00000570861; ENSP00000461634; ENSG00000262896.
ENST00000575341; ENSP00000461584; ENSG00000262512.
GeneIDi85280.
KEGGihsa:85280.
UCSCiuc002hwi.3. human.

Organism-specific databases

CTDi85280.
GeneCardsiKRTAP9-4.
HGNCiHGNC:18902. KRTAP9-4.
HPAiHPA042482.
neXtProtiNX_Q9BYQ2.
PharmGKBiPA38750.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JE2D. Eukaryota.
ENOG41118YY. LUCA.
GeneTreeiENSGT00810000125514.
HOGENOMiHOG000234030.
HOVERGENiHBG096080.
InParanoidiQ9BYQ2.
OrthoDBiEOG7WMCNT.
PhylomeDBiQ9BYQ2.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii85280.
PROiQ9BYQ2.

Gene expression databases

BgeeiQ9BYQ2.
CleanExiHS_KRTAP9-4.
GenevisibleiQ9BYQ2. HS.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF13885. Keratin_B2_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

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], VARIANT TYR-146.
    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], VARIANT TYR-146.

Entry informationi

Entry nameiKRA94_HUMAN
AccessioniPrimary (citable) accession number: Q9BYQ2
Secondary accession number(s): Q0VAE3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 99 of the entry and version 2 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. 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.