KRT86 keratin 86 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT86provided by HGNC
Official Full Name: keratin 86provided by HGNC
Primary source: HGNC:HGNC:6463
See related: Ensembl:ENSG00000170442 MIM:601928; AllianceGenome:HGNC:6463
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: HB6; Hb1; K86; MNX; KRTHB1; KRTHB6
Summary: This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52274645..52309163)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52238211..52273084)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52668429..52702947)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study reported here a three-generation Chinese family with autosomal dominant monilethrix carrying a novel missense mutation c.1223G>C in KRT86.
Title: Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix.
Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix.
Title: A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
Title: Novel KRT83 and KRT86 mutations associated with monilethrix.
The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix.
Title: Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.
Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
Title: Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
Results idntify a novel mutation of krt86 protein causing monilethrix located in a region other than the helix.
Title: A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
Title: Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese.
Title: [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
Observational study of genotype prevalence. (HuGE Navigator)
Title: A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population.
The KRTHB6 expression uniformly occurred in the midcortex region.
Title: Keratins of the human hair follicle.

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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

Associated conditions

Description	Tests
Beaded hair MedGen: C0546966 OMIM: 158000 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of keratin 86 (KRT86; KRTHB6) in peptide-treated PBMCs	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KRTHB1_8430 (e-PCR)
- UniSTS:468495

RH121971 (e-PCR)
- UniSTS:95009

G64252 (e-PCR)
- UniSTS:166972

G64254 (e-PCR)
- UniSTS:166975

NoName (e-PCR)
- UniSTS:480851

RH98291 (e-PCR)
- UniSTS:90714

RH17914 (e-PCR)
- UniSTS:28814

SHGC-142829 (e-PCR)
- UniSTS:171683

SGC33015 (e-PCR)
- UniSTS:51375

D12S763 (e-PCR)
- UniSTS:148914

NoName (e-PCR)
- UniSTS:482492

KRT7_2779 (e-PCR)
- UniSTS:462310

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: keratin, type II cuticular Hb6

Names: hair keratin K2.11; hard keratin, type II, 6; keratin 86, type II; keratin protein HB6; keratin, hair, basic, 6 (monilethrix); type II hair keratin Hb6; type-II keratin Kb26

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.

Genomic

NG_008086.2 RefSeqGene

Range

5001..39519

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001320198.2 → NP_001307127.1 keratin, type II cuticular Hb6

Status: REVIEWED

Source sequence(s)

AI368926, AK292237, BC069585, BG216771, DC399862

Consensus CDS

CCDS41785.1

UniProtKB/Swiss-Prot

O43790, P78387

UniProtKB/TrEMBL

A8K872, B4DN72

Related

ENSP00000444533.1, ENST00000423955.7

Conserved Domains (2) summary

pfam00038
Location:105 → 416

Filament; Intermediate filament protein

pfam16208
Location:40 → 102

Keratin_2_head; Keratin type II head

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

52274645..52309163

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005268866.5 → XP_005268923.1 keratin, type II cuticular Hb6 isoform X1

UniProtKB/TrEMBL

A8K872, B4DN72

Conserved Domains (4) summary

pfam00038
Location:182 → 493

Filament; Intermediate filament protein

pfam16208
Location:80 → 179

Keratin_2_head; Keratin type II head

cl09111
Location:302 → 417

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

cl23720
Location:392 → 460

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

52238211..52273084

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372044.1 → XP_054228019.1 keratin, type II cuticular Hb6 isoform X1
XM_054372045.1 → XP_054228020.1 keratin, type II cuticular Hb6 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_002284.3: Suppressed sequence

Description

NM_002284.3: This RefSeq was removed because currently there is insufficient support for the transcript.