KRTAP5-5 (keratin associated protein 5-5)

Gene

• Entrez ID: 439915
• Gene name: Keratin associated protein 5-5
• Gene symbol: KRTAP5-5
• Synonyms (NCBI Gene): KRTAP5-11, KRTAP5.5
• Chromosome: 11
• Chromosome location: 11p15.5

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1102110	hsa-miR-128	CLIP-seq
MIRT1102111	hsa-miR-1303	CLIP-seq
MIRT1102112	hsa-miR-218	CLIP-seq
MIRT1102113	hsa-miR-29a	CLIP-seq
MIRT1102114	hsa-miR-29b	CLIP-seq
MIRT1102115	hsa-miR-29c	CLIP-seq
MIRT1102116	hsa-miR-3663-3p	CLIP-seq
MIRT1102117	hsa-miR-636	CLIP-seq
MIRT2027791	hsa-miR-1197	CLIP-seq
MIRT2027792	hsa-miR-1224-5p	CLIP-seq
MIRT1102110	hsa-miR-128	CLIP-seq
MIRT2027793	hsa-miR-4751	CLIP-seq
MIRT2683710	hsa-miR-1226	CLIP-seq
MIRT2683711	hsa-miR-197	CLIP-seq
MIRT2683712	hsa-miR-1972	CLIP-seq
MIRT2683713	hsa-miR-4650-5p	CLIP-seq
MIRT2683714	hsa-miR-4717-5p	CLIP-seq
MIRT2683715	hsa-miR-4733-3p	CLIP-seq
MIRT2683716	hsa-miR-622	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q701N2
• Protein name: Keratin-associated protein 5-5 (Keratin-associated protein 5-11) (Keratin-associated protein 5.11) (Keratin-associated protein 5.5) (Ultrahigh sulfur keratin-associated protein 5.5)
• Protein function: 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 ex
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13885	Keratin_B2_2	145 → 191	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	163 → 208	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	202 → 236	Keratin, high sulfur B2 protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Restricted to hair root, not detected in any other tissues. {ECO:0000269|PubMed:15144888}.
• Sequence:

  MGCCGCSGGCGSGCGGRGSGCGGCGSGCGGCGSGCGGCGSGCGGCGGCGSGCAGCGGCGS
  GCCVPVCCCKPMCCCVPACSCSSCGKGGCGSCGGSKRGCVSCGVSKGACGSCGGSKGGCG
  SCGGSKGGCGSCGGSKGGCGSCGGSKGGCGSYGCSQSSCCKPCCCSSGCGSSCCQSSCCK
  PYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI

• Sequence length: 237

Pathways

Reactome:

Keratinization

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations