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KRT86 keratin 86 [ Homo sapiens (human) ]

Gene ID: 3892, updated on 20-Dec-2019

Summary

Official Symbol
KRT86provided by HGNC
Official Full Name
keratin 86provided by HGNC
Primary source
HGNC:HGNC:6463
See related
Ensembl:ENSG00000170442 MIM:601928
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

Genomic context

See KRT86 in Genome Data Viewer
Location:
12q13.13
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52270507..52309163)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52642892..52702947)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene keratin 87 pseudogene Neighboring gene keratin 88 pseudogene Neighboring gene keratin 81 Neighboring gene keratin 83 Neighboring gene keratin 89 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Beaded hair
MedGen: C0546966 OMIM: 158000 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
NHGRI GWA Catalog

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
keratinization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
keratin filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_008086.2 RefSeqGene

    Range
    5001..39519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320198.2NP_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
    UniProtKB/TrEMBL
    A8K872
    Related
    ENSP00000444533.1, ENST00000423955.7
    Conserved Domains (2) summary
    pfam00038
    Location:105416
    Filament; Intermediate filament protein
    pfam16208
    Location:40102
    Keratin_2_head; Keratin type II head

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    52270507..52309163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268866.4XP_005268923.1  keratin, type II cuticular Hb6 isoform X1

    Conserved Domains (4) summary
    pfam00038
    Location:182493
    Filament; Intermediate filament protein
    pfam16208
    Location:80179
    Keratin_2_head; Keratin type II head
    cl09111
    Location:302417
    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:392460
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. XM_017019296.1XP_016874785.1  keratin, type II cuticular Hb6 isoform X2

    UniProtKB/Swiss-Prot
    O43790
    Related
    ENSP00000293525.5, ENST00000293525.5
    Conserved Domains (2) summary
    pfam00038
    Location:105416
    Filament; Intermediate filament protein
    pfam16208
    Location:40102
    Keratin_2_head; Keratin type II head

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_002284.3: Suppressed sequence

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