Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	337880
Gene name	Keratin associated protein 11-1
Gene symbol	KRTAP11-1
Synonyms (NCBI Gene)	HACL-1HACL1KAP11.1
Chromosome	21
Chromosome location	21q22.11

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025664	hsa-miR-7-5p	Microarray	17612493
MIRT1101953	hsa-miR-15a	CLIP-seq
MIRT1101954	hsa-miR-15b	CLIP-seq
MIRT1101955	hsa-miR-16	CLIP-seq
MIRT1101956	hsa-miR-195	CLIP-seq
MIRT1101957	hsa-miR-3120-3p	CLIP-seq
MIRT1101958	hsa-miR-424	CLIP-seq
MIRT1101959	hsa-miR-4761-5p	CLIP-seq
MIRT1101960	hsa-miR-4768-3p	CLIP-seq
MIRT1101961	hsa-miR-497	CLIP-seq
MIRT1101962	hsa-miR-570	CLIP-seq
MIRT2259044	hsa-miR-2113	CLIP-seq
MIRT2259045	hsa-miR-758	CLIP-seq

Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0045095	Component	Keratin filament	IEA

MIM	HGNC	e!Ensembl
600064	18922	ENSG00000182591

Q8IUC1

Protein name

Keratin-associated protein 11-1 (High sulfur keratin-associated protein 11.1)

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
PF05287	PMG	1 → 163	PMG protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the upper matrix and in the entire hair cortex.

Sequence

MSFNCSTRNCSSRPIGGRCIVPVAQVTTTSTTDADCLGGICLPSSFQTGSWLLDHCQETC
CEPTACQPTCYRRTSCVSNPCQVTCSRQTTCISNPCSTTYSRPLTFVSSGCQPLGGISSV
CQPVGGISTVCQPVGGVSTVCQPACGVSRTYQQSCVSSCRRTC

Sequence length

163

Interactions

View interactions

	Reactome
			Keratinization

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

KRTAP11-1 (keratin associated protein 11-1)