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Protein

Keratin-associated protein 1-1

Gene

KRTAP1-1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin-associated protein 1-1
Alternative name(s):
High sulfur keratin-associated protein 1.1
Keratin-associated protein 1.1
Keratin-associated protein 1.6
Keratin-associated protein 1.7
Gene namesi
Name:KRTAP1-1
Synonyms:B2A, KAP1.1, KAP1.6, KAP1.7, KRTAP1.1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:16772. KRTAP1-1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38412.

Polymorphism and mutation databases

BioMutaiKRTAP1-1.
DMDMi74722292.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 177177Keratin-associated protein 1-1PRO_0000223901Add
BLAST

Proteomic databases

PaxDbiQ07627.
PeptideAtlasiQ07627.
PRIDEiQ07627.

Expressioni

Tissue specificityi

Expressed in the middle/upper portions of the hair cortex, in the region termed the keratogenous zone.1 Publication

Gene expression databases

BgeeiQ07627.
CleanExiHS_KRTAP1-1.
GenevisibleiQ07627. HS.

Interactioni

Subunit structurei

Interacts with hair keratins.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000305975.

Structurei

3D structure databases

ProteinModelPortaliQ07627.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the KRTAP type 1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4726. Eukaryota.
ENOG410XY8D. LUCA.
GeneTreeiENSGT00730000111060.
HOGENOMiHOG000234033.
HOVERGENiHBG008671.
InParanoidiQ07627.
OMAiSGAVSCR.
OrthoDBiEOG71P2DP.
PhylomeDBiQ07627.
TreeFamiTF351356.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF01500. Keratin_B2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q07627-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MACCQTSFCG FPSCSTSGTC GSSCCQPSCC ETSSCQPRCC ETSCCQPSCC
60 70 80 90 100
QTSFCGFPSF STGGTCDSSC CQPSCCETSC CQPSCYQTSS CGTGCGIGGG
110 120 130 140 150
IGYGQEGSSG AVSTRIRWCR PDCRVEGTCL PPCCVVSCTP PSCCQLHHAE
160 170
ASCCRPSYCG QSCCRPVCCC YCSEPTC
Length:177
Mass (Da):18,235
Last modified:November 1, 1996 - v1
Checksum:i8CD3613D3DFC3C79
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 5847PSCST…FCGFP → R in allele KAP1.6.
VAR_025348Add
BLAST
Natural varianti19 – 11092Missing in allele KAP1.7. 1 Publication
VAR_025353Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X63337 Genomic DNA. Translation: CAA44937.1.
AJ406926 mRNA. Translation: CAC27565.1.
AB052934 mRNA. Translation: BAB61026.1.
AB052868 mRNA. Translation: BAB61024.1.
AB055057 mRNA. Translation: BAB61031.1.
AC007455 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60699.1.
BC105069 mRNA. Translation: AAI05070.1.
BC105071 mRNA. Translation: AAI05072.1.
CCDSiCCDS42324.1.
PIRiS37650.
RefSeqiNP_112229.1. NM_030967.2.
UniGeneiHs.247934.

Genome annotation databases

EnsembliENST00000306271; ENSP00000305975; ENSG00000188581.
ENST00000573871; ENSP00000460787; ENSG00000262808.
GeneIDi81851.
KEGGihsa:81851.
UCSCiuc032fzn.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X63337 Genomic DNA. Translation: CAA44937.1.
AJ406926 mRNA. Translation: CAC27565.1.
AB052934 mRNA. Translation: BAB61026.1.
AB052868 mRNA. Translation: BAB61024.1.
AB055057 mRNA. Translation: BAB61031.1.
AC007455 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60699.1.
BC105069 mRNA. Translation: AAI05070.1.
BC105071 mRNA. Translation: AAI05072.1.
CCDSiCCDS42324.1.
PIRiS37650.
RefSeqiNP_112229.1. NM_030967.2.
UniGeneiHs.247934.

3D structure databases

ProteinModelPortaliQ07627.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000305975.

Polymorphism and mutation databases

BioMutaiKRTAP1-1.
DMDMi74722292.

Proteomic databases

PaxDbiQ07627.
PeptideAtlasiQ07627.
PRIDEiQ07627.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306271; ENSP00000305975; ENSG00000188581.
ENST00000573871; ENSP00000460787; ENSG00000262808.
GeneIDi81851.
KEGGihsa:81851.
UCSCiuc032fzn.1. human.

Organism-specific databases

CTDi81851.
GeneCardsiKRTAP1-1.
HGNCiHGNC:16772. KRTAP1-1.
MIMi608819. gene.
neXtProtiNX_Q07627.
PharmGKBiPA38412.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4726. Eukaryota.
ENOG410XY8D. LUCA.
GeneTreeiENSGT00730000111060.
HOGENOMiHOG000234033.
HOVERGENiHBG008671.
InParanoidiQ07627.
OMAiSGAVSCR.
OrthoDBiEOG71P2DP.
PhylomeDBiQ07627.
TreeFamiTF351356.

Miscellaneous databases

GenomeRNAii81851.
PROiQ07627.
SOURCEiSearch...

Gene expression databases

BgeeiQ07627.
CleanExiHS_KRTAP1-1.
GenevisibleiQ07627. HS.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.
PfamiPF01500. Keratin_B2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and structural characterization of human hair sulfur-rich keratin genes."
    Zhumabaeva B.D., Gening L.V., Gazaryan K.G.
    Mol. Biol. (Mosk.) 26:550-555(1992)
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "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 SPECIFICITY.
    Tissue: Scalp.
  3. "Isolation of KAP1.1."
    Aoki N., Shimomura Y.
    Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "hKAP1.6 and hKAP1.7, two novel human high sulfur keratin-associated proteins are expressed in the hair follicle cortex."
    Shimomura Y., Aoki N., Rogers M.A., Langbein L., Schweizer J., Ito M.
    J. Invest. Dermatol. 118:226-231(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS 12-PRO--PRO-58 DEL ARG INS AND 19-THR--GLY-110 DEL.
  5. "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].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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].
  8. "Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family."
    Shimomura Y., Aoki N., Schweizer J., Langbein L., Rogers M.A., Winter H., Ito M.
    J. Biol. Chem. 277:45493-45501(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT 12-PRO--PRO-58 DEL ARG INS.

Entry informationi

Entry nameiKRA11_HUMAN
AccessioniPrimary (citable) accession number: Q07627
Secondary accession number(s): A6NC32, Q96S60, Q96S67
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: November 1, 1996
Last modified: July 6, 2016
This is version 114 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  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.