KRT85 keratin 85 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT85provided by HGNC
Official Full Name: keratin 85provided by HGNC
Primary source: HGNC:HGNC:6462
See related: Ensembl:ENSG00000135443 MIM:602767; AllianceGenome:HGNC:6462
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: HB5; K85; Hb-5; hHb5; ECTD4; KRTHB5
Summary: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 12q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52360006..52367481, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52323918..52331392, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52753790..52761265, complement)

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?

De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks.
Title: De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks.
described for the first time KRT85 compound heterozygosity in caucasian patients, leading to pure hair and nail ectodermal dysplasia. Next generation sequencing molecular diagnosis allowed to confirm rapidly the diagnosis and to guide genetic counselling
Title: Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia.
Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene.
Title: Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.
crucial role of K85 in keratinization of hair and nails as shown by homozygous mutations in families
Title: Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.
Transfected p65 induces transcriptional activation of Hb5.
Title: Transcriptional activation of a subset of hair keratin genes by the NF-kappaB effector p65/RelA.
Direct evidence relating to the molecular pathogenesis of pure hair-nail ectodermal dysplasias with KRTHB5 gene mutation.
Title: A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

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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
Ectodermal dysplasia 4, hair/nail type MedGen: CN029917 OMIM: 602032 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Germline genomic variants associated with childhood acute lymphoblastic leukemia. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G64255 (e-PCR)
- UniSTS:166974

STS-X99140 (e-PCR)
- UniSTS:15941

RH94339 (e-PCR)
- UniSTS:84922

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
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
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

General protein information

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Preferred Names: keratin, type II cuticular Hb5

Names: hair keratin K2.12; hard keratin, type II, 5; keratin 85, type II; keratin, hair, basic, 5; type II hair keratin Hb5; type-II keratin Kb25

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_008353.1 RefSeqGene

Range

5045..12520

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001300810.1 → NP_001287739.1 keratin, type II cuticular Hb5 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter than isoform 1.

Source sequence(s)

AC078865, AK302303, X99140

Consensus CDS

CCDS73472.1

UniProtKB/TrEMBL

B7Z7N3, F5GYI5

Related

ENSP00000440240.1, ENST00000544265.1

Conserved Domains (2) summary

pfam00038
Location:18 → 221

Filament; Intermediate filament protein

cl23720
Location:120 → 188

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_002283.4 → NP_002274.1 keratin, type II cuticular Hb5 isoform 1

See identical proteins and their annotated locations for NP_002274.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC078865, X99140

Consensus CDS

CCDS8824.1

UniProtKB/Swiss-Prot

P78386, Q9NSB1

Related

ENSP00000257901.3, ENST00000257901.7

Conserved Domains (3) summary

pfam00038
Location:122 → 433

Filament; Intermediate filament protein

pfam16208
Location:17 → 119

Keratin_2_head; Keratin type II head

cl23720
Location:332 → 400

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