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Protein

Keratin-associated protein 20-1

Gene

KRTAP20-1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Protein inferred from homologyi

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 20-1
Gene namesi
Name:KRTAP20-1
Synonyms:KAP20.1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:18943. KRTAP20-1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134953935.

Polymorphism and mutation databases

BioMutaiKRTAP20-1.
DMDMi88909174.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 5656Keratin-associated protein 20-1PRO_0000223910Add
BLAST

Proteomic databases

PaxDbiQ3LI63.
PRIDEiQ3LI63.

Expressioni

Gene expression databases

CleanExiHS_KRTAP20-1.

Interactioni

Subunit structurei

Interacts with hair keratins.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000335503.

Structurei

3D structure databases

ProteinModelPortaliQ3LI63.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the KRTAP type 20 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

GeneTreeiENSGT00730000112874.
HOGENOMiHOG000113247.
InParanoidiQ3LI63.
OMAiGYRGYGC.

Family and domain databases

InterProiIPR021743. KRTAP_type6/8/16/19/20/21.
[Graphical view]
PfamiPF11759. KRTAP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q3LI63-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIYYSNYYGG YGYGGLGCGY GCGYRGYGCG YGGYGGYGNG YYCPSCYGRY

WSYGFY
Length:56
Mass (Da):6,202
Last modified:November 8, 2005 - v1
Checksum:i2F4D399EDB668CA8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521S → L in a breast cancer sample; somatic mutation. 1 Publication
VAR_036562

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB096955 mRNA. Translation: BAE46370.1.
BC104846 mRNA. Translation: AAI04847.1.
BC104872 mRNA. Translation: AAI04873.1.
CCDSiCCDS13603.1.
RefSeqiNP_853646.1. NM_181615.1.
UniGeneiHs.553697.

Genome annotation databases

EnsembliENST00000334664; ENSP00000335503; ENSG00000244624.
GeneIDi337975.
KEGGihsa:337975.
UCSCiuc011ade.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB096955 mRNA. Translation: BAE46370.1.
BC104846 mRNA. Translation: AAI04847.1.
BC104872 mRNA. Translation: AAI04873.1.
CCDSiCCDS13603.1.
RefSeqiNP_853646.1. NM_181615.1.
UniGeneiHs.553697.

3D structure databases

ProteinModelPortaliQ3LI63.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000335503.

Polymorphism and mutation databases

BioMutaiKRTAP20-1.
DMDMi88909174.

Proteomic databases

PaxDbiQ3LI63.
PRIDEiQ3LI63.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334664; ENSP00000335503; ENSG00000244624.
GeneIDi337975.
KEGGihsa:337975.
UCSCiuc011ade.3. human.

Organism-specific databases

CTDi337975.
GeneCardsiKRTAP20-1.
HGNCiHGNC:18943. KRTAP20-1.
neXtProtiNX_Q3LI63.
PharmGKBiPA134953935.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00730000112874.
HOGENOMiHOG000113247.
InParanoidiQ3LI63.
OMAiGYRGYGC.

Miscellaneous databases

GenomeRNAii337975.
NextBioi96841.
PROiQ3LI63.

Gene expression databases

CleanExiHS_KRTAP20-1.

Family and domain databases

InterProiIPR021743. KRTAP_type6/8/16/19/20/21.
[Graphical view]
PfamiPF11759. KRTAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of complete keratin-associated protein (KAP) gene cluster spanning 800 kb region on human chromosome 21q22.11."
    Obayashi I., Shibuya K., Minoshima S., Kudoh J., Shimizu N.
    Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Hair root.
  2. "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].
  3. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-52.

Entry informationi

Entry nameiKR201_HUMAN
AccessioniPrimary (citable) accession number: Q3LI63
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: November 8, 2005
Last modified: May 11, 2016
This is version 62 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 21
    Human chromosome 21: 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.