Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Keratin-associated protein 22-1

Gene

KRTAP22-1

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 22-1
Gene namesi
Name:KRTAP22-1
Synonyms:KAP22.1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:18947. KRTAP22-1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134897377.

Polymorphism and mutation databases

BioMutaiKRTAP22-1.
DMDMi296434555.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 4848Keratin-associated protein 22-1PRO_0000223914Add
BLAST

Proteomic databases

PaxDbiQ3MIV0.

Expressioni

Gene expression databases

CleanExiHS_KRTAP22-1.

Organism-specific databases

HPAiHPA031147.

Interactioni

Subunit structurei

Interacts with hair keratins.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000333887.

Structurei

3D structure databases

ProteinModelPortaliQ3MIV0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IUWU. Eukaryota.
ENOG4110PT1. LUCA.
GeneTreeiENSGT00710000107394.
HOGENOMiHOG000113249.
InParanoidiQ3MIV0.
OrthoDBiEOG7NW6DN.
PhylomeDBiQ3MIV0.
TreeFamiTF341664.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q3MIV0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40 
MSFDNNYHGG QGYAKGGLGC SYGCGLSGYG YACYCPWCYE RSWFSGCF
Length:48
Mass (Da):5,275
Last modified:May 18, 2010 - v2
Checksum:i6FA4E686FB7C9A65
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261L → H.3 Publications
Corresponds to variant rs198915 [ dbSNP | Ensembl ].
VAR_060443
Natural varianti29 – 291Y → C.
Corresponds to variant rs724849 [ dbSNP | Ensembl ].
VAR_057650

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB096953 mRNA. Translation: BAE46368.1.
AP001069 Genomic DNA. No translation available.
BC101682 mRNA. Translation: AAI01683.1.
BC101686 mRNA. Translation: AAI01687.1.
CCDSiCCDS13601.1.
RefSeqiNP_853651.1. NM_181620.1.
UniGeneiHs.553700.

Genome annotation databases

EnsembliENST00000334680; ENSP00000333887; ENSG00000186924.
GeneIDi337979.
KEGGihsa:337979.
UCSCiuc011add.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB096953 mRNA. Translation: BAE46368.1.
AP001069 Genomic DNA. No translation available.
BC101682 mRNA. Translation: AAI01683.1.
BC101686 mRNA. Translation: AAI01687.1.
CCDSiCCDS13601.1.
RefSeqiNP_853651.1. NM_181620.1.
UniGeneiHs.553700.

3D structure databases

ProteinModelPortaliQ3MIV0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000333887.

Polymorphism and mutation databases

BioMutaiKRTAP22-1.
DMDMi296434555.

Proteomic databases

PaxDbiQ3MIV0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334680; ENSP00000333887; ENSG00000186924.
GeneIDi337979.
KEGGihsa:337979.
UCSCiuc011add.3. human.

Organism-specific databases

CTDi337979.
GeneCardsiKRTAP22-1.
HGNCiHGNC:18947. KRTAP22-1.
HPAiHPA031147.
neXtProtiNX_Q3MIV0.
PharmGKBiPA134897377.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUWU. Eukaryota.
ENOG4110PT1. LUCA.
GeneTreeiENSGT00710000107394.
HOGENOMiHOG000113249.
InParanoidiQ3MIV0.
OrthoDBiEOG7NW6DN.
PhylomeDBiQ3MIV0.
TreeFamiTF341664.

Miscellaneous databases

GenomeRNAii337979.
NextBioi96857.
PROiQ3MIV0.

Gene expression databases

CleanExiHS_KRTAP22-1.

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], VARIANT HIS-26.
    Tissue: Hair root.
  2. "The DNA sequence of human chromosome 21."
    Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
    , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
    Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT HIS-26.
  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 HIS-26.
    Tissue: Cerebellum.

Entry informationi

Entry nameiKR221_HUMAN
AccessioniPrimary (citable) accession number: Q3MIV0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 67 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 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

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.