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Q6L8H2

- KRA53_HUMAN

UniProt

Q6L8H2 - KRA53_HUMAN

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Protein

Keratin-associated protein 5-3

Gene

KRTAP5-3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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 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.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:KRTAP5-3
Synonyms:KAP5-9, KAP5.3, KRTAP5-9, KRTAP5.3, KRTAP5.9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:23598. KRTAP5-3.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134865306.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 238238Keratin-associated protein 5-3PRO_0000184101Add
BLAST

Proteomic databases

PaxDbiQ6L8H2.
PRIDEiQ6L8H2.

Expressioni

Tissue specificityi

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

Gene expression databases

CleanExiHS_KRTAP5-3.
HS_KRTAP5-9.
GenevestigatoriQ6L8H2.

Interactioni

Subunit structurei

Interacts with hair keratins.

Structurei

3D structure databases

ProteinModelPortaliQ6L8H2.
SMRiQ6L8H2. Positions 141-216.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati35 – 3841
Repeati41 – 4442
Repeati47 – 5043
Repeati91 – 9444
Repeati150 – 15345
Repeati160 – 16346
Repeati170 – 17347
Repeati189 – 19248
Repeati199 – 20249
Repeati218 – 221410
Repeati228 – 231411

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni35 – 23119711 X 4 AA repeats of C-C-X-PAdd
BLAST

Sequence similaritiesi

Belongs to the KRTAP type 5 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

OMAiCGGSKGV.

Family and domain databases

InterProiIPR002494. KAP.
[Graphical view]
PANTHERiPTHR23262. PTHR23262. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6L8H2-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGCSGCSGGC GSSCGGCGSS CGGCGSGYGG CGSGCCVPVC CCKPVCCCVP
60 70 80 90 100
ACSCSSCGSC GGSKGVCGSC GGCKGGCGSC GGSKGGCGSS CCVPVCCSSS
110 120 130 140 150
CGSCGGSKGV CGFRGGSKGG CGSCGCSQCS CYKPCCCSSG CGSSCCQSSC
160 170 180 190 200
CKPSCSQSSC CKPCCSQSSC CKPCCCSSGC GSSCCQSSCC KPCCSQSSCC
210 220 230
KPCCCSSGCG SSCCQSSCCK PCSSQSSCCV PICCQCKI
Length:238
Mass (Da):22,106
Last modified:July 5, 2004 - v1
Checksum:iE3D415F060B6DC4B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 41S → C in AAT09005. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271G → S.
Corresponds to variant rs7129002 [ dbSNP | Ensembl ].
VAR_060115
Natural varianti28 – 281Y → C.
Corresponds to variant rs7108370 [ dbSNP | Ensembl ].
VAR_060116
Natural varianti73 – 731C → S.
Corresponds to variant rs7125831 [ dbSNP | Ensembl ].
VAR_060117
Natural varianti76 – 761G → V.
Corresponds to variant rs7125826 [ dbSNP | Ensembl ].
VAR_060118
Natural varianti83 – 831S → C.
Corresponds to variant rs7113784 [ dbSNP | Ensembl ].
VAR_060119

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB126072 mRNA. Translation: BAD20199.1.
AJ628246 mRNA. Translation: CAF31638.1.
AY597812 mRNA. Translation: AAT09005.1.
CCDSiCCDS41591.1.
RefSeqiNP_001012726.1. NM_001012708.2.
UniGeneiHs.532471.

Genome annotation databases

EnsembliENST00000399685; ENSP00000382592; ENSG00000196224.
GeneIDi387266.
KEGGihsa:387266.
UCSCiuc001ltw.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB126072 mRNA. Translation: BAD20199.1 .
AJ628246 mRNA. Translation: CAF31638.1 .
AY597812 mRNA. Translation: AAT09005.1 .
CCDSi CCDS41591.1.
RefSeqi NP_001012726.1. NM_001012708.2.
UniGenei Hs.532471.

3D structure databases

ProteinModelPortali Q6L8H2.
SMRi Q6L8H2. Positions 141-216.
ModBasei Search...
MobiDBi Search...

Proteomic databases

PaxDbi Q6L8H2.
PRIDEi Q6L8H2.

Protocols and materials databases

DNASUi 387266.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000399685 ; ENSP00000382592 ; ENSG00000196224 .
GeneIDi 387266.
KEGGi hsa:387266.
UCSCi uc001ltw.1. human.

Organism-specific databases

CTDi 387266.
GeneCardsi GC11M001628.
HGNCi HGNC:23598. KRTAP5-3.
neXtProti NX_Q6L8H2.
PharmGKBi PA134865306.
GenAtlasi Search...

Phylogenomic databases

OMAi CGGSKGV.

Miscellaneous databases

GenomeRNAii 387266.
NextBioi 101252.
PROi Q6L8H2.

Gene expression databases

CleanExi HS_KRTAP5-3.
HS_KRTAP5-9.
Genevestigatori Q6L8H2.

Family and domain databases

InterProi IPR002494. KAP.
[Graphical view ]
PANTHERi PTHR23262. PTHR23262. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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].

Entry informationi

Entry nameiKRA53_HUMAN
AccessioniPrimary (citable) accession number: Q6L8H2
Secondary accession number(s): Q6PL44, Q701N3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: July 5, 2004
Last modified: October 1, 2014
This is version 73 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 11
    Human chromosome 11: 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

External Data

Dasty 3