KRTAP1-1 keratin associated protein 1-1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRTAP1-1provided by HGNC
Official Full Name: keratin associated protein 1-1provided by HGNC
Primary source: HGNC:HGNC:16772
See related: Ensembl:ENSG00000188581 MIM:608819; AllianceGenome:HGNC:16772
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HB2A; KAP1.1; KAP1.6; KAP1.7; KAP1.1A; KAP1.1B; KRTAP1A; hKAP1.7; KRTAP1.1
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- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
Orthologs: all
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Genomic context

Location:: 17q21.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41040541..41041450, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (41905025..41905934, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39196793..39197702, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes.
Title: Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes.
Krtap11-1 may play an important role on keratin-bundle assembly in the hair cortex.
Title: Krtap11-1, a hair keratin-associated protein, as a possible crucial element for the physical properties of hair shafts.
polymorphisms in Japanese and Caucasian individuals
Title: Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480525

NoName (e-PCR)
- UniSTS:483435

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in keratin filament	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: keratin-associated protein 1-1

Names: high sulfur keratin-associated protein 1.1; keratin associated protein 1.7; keratin associated protein 1A; keratin-associated protein 1.1; keratin-associated protein 1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.