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KRT75 keratin 75 [ Homo sapiens (human) ]

Gene ID: 9119, updated on 5-Jul-2020

Summary

Official Symbol
KRT75provided by HGNC
Official Full Name
keratin 75provided by HGNC
Primary source
HGNC:HGNC:24431
See related
Ensembl:ENSG00000170454 MIM:609025
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
PFB; K6HF; KB18
Summary
This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See KRT75 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52424070..52434371, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52817854..52828110, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 82 Neighboring gene keratin 90 pseudogene Neighboring gene keratin 6B Neighboring gene keratin 6C

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
keratinization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
keratin filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
keratin, type II cytoskeletal 75
Names
CK-75
K75
cytokeratin type II
cytokeratin-75
hK6hf
keratin 75, type II
keratin-6 hair follicle
type II keratin-18
type II keratin-K6hf
type-II keratin Kb18

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_008403.1 RefSeqGene

    Range
    4956..15257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004693.3NP_004684.2  keratin, type II cytoskeletal 75

    See identical proteins and their annotated locations for NP_004684.2

    Status: REVIEWED

    Source sequence(s)
    AC055736, AK225962, Y17282
    Consensus CDS
    CCDS8827.1
    UniProtKB/Swiss-Prot
    O95678
    Related
    ENSP00000252245.5, ENST00000252245.6
    Conserved Domains (3) summary
    pfam00038
    Location:148461
    Filament; Intermediate filament protein
    pfam16208
    Location:16145
    Keratin_2_head; Keratin type II head
    cl01888
    Location:374434
    DUF883; Bacterial protein of unknown function (DUF883)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    52424070..52434371 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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