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KRT85 keratin 85 [ Homo sapiens (human) ]

Gene ID: 3891, updated on 22-Aug-2020

Summary

Official Symbol
KRT85provided by HGNC
Official Full Name
keratin 85provided by HGNC
Primary source
HGNC:HGNC:6462
See related
Ensembl:ENSG00000135443 MIM:602767
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

Genomic context

See KRT85 in Genome Data Viewer
Location:
12q13.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52360006..52367481, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52753790..52761309, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 83 Neighboring gene keratin 89 pseudogene Neighboring gene keratin 84 Neighboring gene keratin 82

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
Ectodermal dysplasia, 'pure' hair-nail type
MedGen: C1865951 OMIM: 602032 GeneReviews: Not available
Compare labs
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
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 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)

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_008353.1 RefSeqGene

    Range
    5045..12520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001300810.1NP_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/Swiss-Prot
    P78386
    UniProtKB/TrEMBL
    B7Z7N3, F5GYI5
    Related
    ENSP00000440240.1, ENST00000544265.1
    Conserved Domains (2) summary
    pfam00038
    Location:18221
    Filament; Intermediate filament protein
    cl23720
    Location:120188
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_002283.4NP_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
    Related
    ENSP00000257901.3, ENST00000257901.7
    Conserved Domains (3) summary
    pfam00038
    Location:122433
    Filament; Intermediate filament protein
    pfam16208
    Location:17119
    Keratin_2_head; Keratin type II head
    cl23720
    Location:332400
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    52360006..52367481 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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