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KRT18 keratin 18 [ Homo sapiens (human) ]

Gene ID: 3875, updated on 7-Apr-2024

Summary

Official Symbol
KRT18provided by HGNC
Official Full Name
keratin 18provided by HGNC
Primary source
HGNC:HGNC:6430
See related
Ensembl:ENSG00000111057 MIM:148070; AllianceGenome:HGNC:6430
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
K18; CK-18; CYK18
Summary
KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 258.0), colon (RPKM 230.1) and 15 other tissues See more
Orthologs
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Genomic context

Location:
12q13.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52948855..52952906)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52913414..52917465)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53342639..53346690)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53287796-53287974 Neighboring gene Sharpr-MPRA regulatory region 10212 Neighboring gene ribosomal protein L7 pseudogene 41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53292699-53293198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53295217-53296061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4486 Neighboring gene microRNA 9898 Neighboring gene keratin 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53311823-53312324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53312325-53312824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53337539-53338133 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:53339323-53339918 Neighboring gene Sharpr-MPRA regulatory region 15494 Neighboring gene KRT18 locus control region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53358683-53359326 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365007-53365934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365935-53366860 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53397033-53397195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53399611-53400354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53400355-53401098 Neighboring gene eukaryotic translation initiation factor 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53441165-53442009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53442010-53442853 Neighboring gene TNS2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6402 Neighboring gene tensin 2

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in adherens junction HDA PubMed 
located_in cell periphery IEA
Inferred from Electronic Annotation
more info
 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in keratin filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in keratin filament IPI
Inferred from Physical Interaction
more info
PubMed 
located_in microtubule organizing center IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
keratin, type I cytoskeletal 18
Names
cell proliferation-inducing gene 46 protein
cytokeratin 18
keratin 18, type I

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

  1. NG_008351.1 RefSeqGene

    Range
    5248..9036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000224.3NP_000215.1  keratin, type I cytoskeletal 18

    See identical proteins and their annotated locations for NP_000215.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC107016, CD106591, X12881
    Consensus CDS
    CCDS31809.1
    UniProtKB/Swiss-Prot
    P05783, Q53G38, Q5U0N8, Q9BW26
    UniProtKB/TrEMBL
    B2RA03
    Related
    ENSP00000373487.3, ENST00000388835.4
    Conserved Domains (1) summary
    pfam00038
    Location:79391
    Filament; Intermediate filament protein
  2. NM_199187.2NP_954657.1  keratin, type I cytoskeletal 18

    See identical proteins and their annotated locations for NP_954657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC107016, BG753529, CD106591, X12881
    Consensus CDS
    CCDS31809.1
    UniProtKB/Swiss-Prot
    P05783, Q53G38, Q5U0N8, Q9BW26
    UniProtKB/TrEMBL
    B2RA03
    Related
    ENSP00000373489.2, ENST00000388837.6
    Conserved Domains (1) summary
    pfam00038
    Location:79391
    Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    52948855..52952906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52913414..52917465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)