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KRT12 keratin 12 [ Homo sapiens (human) ]

Gene ID: 3859, updated on 13-Mar-2020

Summary

Official Symbol
KRT12provided by HGNC
Official Full Name
keratin 12provided by HGNC
Primary source
HGNC:HGNC:6414
See related
Ensembl:ENSG00000187242 MIM:601687
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
K12; MECD1
Summary
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See KRT12 in Genome Data Viewer
Location:
17q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (40861303..40867223, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39017430..39023462, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371776 Neighboring gene transmembrane protein 99 (putative) Neighboring gene keratin 10 Neighboring gene uncharacterized LOC105371777 Neighboring gene keratin 20 Neighboring gene uncharacterized LOC107985072 Neighboring gene keratin 23

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 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
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intermediate filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
keratin, type I cytoskeletal 12
Names
CK-12
cytokeratin-12
keratin 12, type I

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_008077.1 RefSeqGene

    Range
    4988..10908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000223.4NP_000214.1  keratin, type I cytoskeletal 12

    See identical proteins and their annotated locations for NP_000214.1

    Status: REVIEWED

    Source sequence(s)
    AK313747, CV573989, D78367
    Consensus CDS
    CCDS11378.1
    UniProtKB/Swiss-Prot
    Q99456
    Related
    ENSP00000251643.4, ENST00000251643.5
    Conserved Domains (1) summary
    pfam00038
    Location:124436
    Filament; Intermediate filament protein

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    40861303..40867223 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003871091.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    10571..16491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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