KRTAP10-1 (keratin associated protein 10-1)

Gene

• Entrez ID: 386677
• Gene name: Keratin associated protein 10-1
• Gene symbol: KRTAP10-1
• Synonyms (NCBI Gene): KAP10.1, KAP18-1, KAP18.1, KRTAP10.1, KRTAP18-1, KRTAP18.1
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes 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-

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2027702	hsa-miR-1207-3p	CLIP-seq
MIRT2027703	hsa-miR-3176	CLIP-seq
MIRT2027704	hsa-miR-378	CLIP-seq
MIRT2027705	hsa-miR-378b	CLIP-seq
MIRT2027706	hsa-miR-378c	CLIP-seq
MIRT2027707	hsa-miR-378d	CLIP-seq
MIRT2027708	hsa-miR-378e	CLIP-seq
MIRT2027709	hsa-miR-378f	CLIP-seq
MIRT2027710	hsa-miR-378h	CLIP-seq
MIRT2027711	hsa-miR-378i	CLIP-seq
MIRT2027712	hsa-miR-3922-3p	CLIP-seq
MIRT2027713	hsa-miR-422a	CLIP-seq
MIRT2027714	hsa-miR-4468	CLIP-seq
MIRT2027715	hsa-miR-646	CLIP-seq
MIRT2259033	hsa-miR-1275	CLIP-seq
MIRT2027703	hsa-miR-3176	CLIP-seq
MIRT2027704	hsa-miR-378	CLIP-seq
MIRT2027705	hsa-miR-378b	CLIP-seq
MIRT2027706	hsa-miR-378c	CLIP-seq
MIRT2027707	hsa-miR-378d	CLIP-seq
MIRT2027708	hsa-miR-378e	CLIP-seq
MIRT2027709	hsa-miR-378f	CLIP-seq
MIRT2027710	hsa-miR-378h	CLIP-seq
MIRT2027711	hsa-miR-378i	CLIP-seq
MIRT2027712	hsa-miR-3922-3p	CLIP-seq
MIRT2027713	hsa-miR-422a	CLIP-seq
MIRT2259034	hsa-miR-4271	CLIP-seq
MIRT2259035	hsa-miR-4447	CLIP-seq
MIRT2027714	hsa-miR-4468	CLIP-seq
MIRT2259036	hsa-miR-4472	CLIP-seq
MIRT2259037	hsa-miR-4525	CLIP-seq
MIRT2259038	hsa-miR-4665-5p	CLIP-seq
MIRT2259039	hsa-miR-4723-5p	CLIP-seq
MIRT2259040	hsa-miR-4725-3p	CLIP-seq
MIRT2259041	hsa-miR-4786-3p	CLIP-seq
MIRT2259042	hsa-miR-625	CLIP-seq
MIRT2259043	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0045095	Component	Keratin filament	IEA

Other IDs

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

Protein

• UniProt ID: P60331
• Protein name: Keratin-associated protein 10-1 (High sulfur keratin-associated protein 10.1) (Keratin-associated protein 10.1) (Keratin-associated protein 18-1) (Keratin-associated protein 18.1)
• 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	72 → 118	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	114 → 161	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	159 → 207	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	193 → 239	Keratin, high sulfur B2 protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues. {ECO:0000269|PubMed:14962103, ECO:0000269|PubMed:1502
• Sequence:

  MAASTMSVCSSACSDSWQVDACPESCCEPHCCALSCCAPAPCLTLVCTPVSRVSSPCCQA
  ACEPSPCQSGCTSSCTPSCCQQSSCQPACCTSSPCQQACCVPVCCKPVCCLPTCSKDSSS
  CCQQSSCQPTCCASSSSQQSCCVPVCCKPVCYVPTCSEDSSSCCQQSSCHPACCTSSPCQ
  QACCVPVRCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPVC
  RPACCMPVSSCCAPASSCQASCCRPASCVSLLCRPACSRPAC

• Sequence length: 282

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
DEAFNESS, AUTOSOMAL RECESSIVE 98	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
nervous system disorder	Nervous System Disorder	BEFREE	27699474		★☆☆☆☆ Found in Text Mining only