KRTAP4-11 (keratin associated protein 4-11)

Gene

• Entrez ID: 653240
• Gene name: Keratin associated protein 4-11
• Gene symbol: KRTAP4-11
• Synonyms (NCBI Gene): KAP4.11, KAP4.14, KRTAP4-14, KRTAP4.14
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- an

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021793	hsa-miR-132-3p	Microarray	17612493
MIRT1102019	hsa-miR-1270	CLIP-seq
MIRT1102020	hsa-miR-203	CLIP-seq
MIRT1102021	hsa-miR-3136-5p	CLIP-seq
MIRT1102022	hsa-miR-3660	CLIP-seq
MIRT1102023	hsa-miR-3929	CLIP-seq
MIRT1102024	hsa-miR-4307	CLIP-seq
MIRT1102025	hsa-miR-4419b	CLIP-seq
MIRT1102026	hsa-miR-4439	CLIP-seq
MIRT1102027	hsa-miR-4478	CLIP-seq
MIRT1102028	hsa-miR-4513	CLIP-seq
MIRT1102029	hsa-miR-4517	CLIP-seq
MIRT1102030	hsa-miR-4526	CLIP-seq
MIRT1102031	hsa-miR-4533	CLIP-seq
MIRT1102032	hsa-miR-4646-5p	CLIP-seq
MIRT1102033	hsa-miR-4659a-5p	CLIP-seq
MIRT1102034	hsa-miR-4659b-5p	CLIP-seq
MIRT1102035	hsa-miR-4683	CLIP-seq
MIRT1102036	hsa-miR-4694-3p	CLIP-seq
MIRT1102037	hsa-miR-4747-5p	CLIP-seq
MIRT1102038	hsa-miR-4766-5p	CLIP-seq
MIRT1102039	hsa-miR-4777-3p	CLIP-seq
MIRT1102040	hsa-miR-4778-5p	CLIP-seq
MIRT1102041	hsa-miR-488	CLIP-seq
MIRT1102042	hsa-miR-620	CLIP-seq
MIRT1102043	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21653829, 25416956, 32296183
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0042633	Process	Hair cycle	IBA
GO:0045095	Component	Keratin filament	IEA

Other IDs

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

Protein

• UniProt ID: Q9BYQ6
• Protein name: Keratin-associated protein 4-11 (Keratin-associated protein 4-14) (Keratin-associated protein 4.11) (Keratin-associated protein 4.14) (Ultrahigh sulfur keratin-associated protein 4.14)
• Protein function: 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 e
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13885	Keratin_B2_2	19 → 63	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	49 → 98	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	79 → 123	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	89 → 133	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	119 → 170	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	160 → 195	Keratin, high sulfur B2 protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the hair follicles. {ECO:0000269|PubMed:15955084}.
• Sequence:

  MVNSCCGSVCSHQGCGRDLCQETCCRPSCCETTCCRTTYCRPSCCVSSCCRPQCCQSVCC
  QPTCCRPRCCISSCCRPSCCVSSCCKPQCCQSMCCQPTCCRPRCCISSCCRPSCCVSSCC
  RPQCCQSVCCQPTCCHPSCSISSCCRPSCCESSCCRPCCCLRPVCGRVSCHTTCYRPTCV
  ISSCPRPLCCASSCC

• Sequence length: 195

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
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations