Format

Send to:

Choose Destination

KRT86 keratin 86 [ Homo sapiens (human) ]

Gene ID: 3892, updated on 25-May-2017
Official Symbol
KRT86provided by HGNC
Official Full Name
keratin 86provided by HGNC
Primary source
HGNC:HGNC:6463
See related
Ensembl:ENSG00000170442 MIM:601928; Vega:OTTHUMG00000184153
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]
Orthologs
Location:
12q13.13
Exon count:
11
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

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

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

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
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 exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
keratin filament IEA
Inferred from Electronic Annotation
more info
 
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

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_001320198.1NP_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, OTTHUMP00000241597, ENST00000423955.6, OTTHUMT00000404911
    Conserved Domains (4) summary
    pfam00038
    Location:105416
    Filament; Intermediate filament protein
    pfam16208
    Location:3102
    Keratin_2_head; Keratin type II head
    cl09111
    Location:225340
    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:315383
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 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 (4) summary
    pfam00038
    Location:105416
    Filament; Intermediate filament protein
    pfam16208
    Location:3102
    Keratin_2_head; Keratin type II head
    cl09111
    Location:225340
    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:315383
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    52635048..52669596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
Support Center