About   Help   FAQ
Krt1 Gene Detail
Summary
  • Symbol
    Krt1
  • Name
    keratin 1
  • Synonyms
    Krt-2.1, Krt2-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96698
    NCBI Gene: 16678
  • Alliance
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:101753861-101759221 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 15, 57.06 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    198 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96698
protein coding gene Chr15:101753861-101759229 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022389
protein coding gene Chr15:103980411-103985769 (-)
A/J MGP_AJ_G0022352
protein coding gene Chr15:99874685-99881578 (-)
AKR/J MGP_AKRJ_G0022327
protein coding gene Chr15:102917402-102922760 (-)
BALB/cJ MGP_BALBcJ_G0022355
protein coding gene Chr15:99945885-99951243 (-)
C3H/HeJ MGP_C3HHeJ_G0022123
protein coding gene Chr15:102985922-102991274 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022804
protein coding gene Chr15:107846770-107852128 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020327
protein coding gene Chr15:95681780-95687359 (-)
CAST/EiJ MGP_CASTEiJ_G0021648
protein coding gene Chr15:103837522-103842885 (-)
CBA/J MGP_CBAJ_G0022091
protein coding gene Chr15:111599631-111604991 (-)
DBA/2J MGP_DBA2J_G0022222
protein coding gene Chr15:99185574-99190932 (-)
FVB/NJ MGP_FVBNJ_G0022198
protein coding gene Chr15:98243953-98249311 (-)
LP/J MGP_LPJ_G0022291
protein coding gene Chr15:104128668-104134026 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022220
protein coding gene Chr15:115221413-115226771 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022816
protein coding gene Chr15:102944106-102949466 (-)
PWK/PhJ MGP_PWKPhJ_G0021388
protein coding gene Chr15:99330213-99335613 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021220
protein coding gene Chr15:102774647-102780012 (-)
WSB/EiJ MGP_WSBEiJ_G0021698
protein coding gene Chr15:103567394-103572761 (-)



Homology
more
  • Human Ortholog
    KRT1, keratin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KRT1, keratin 1
  • Synonyms
    AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
  • Links
    NCBI Gene ID: 3848
    neXtProt AC: NX_P04264
    UniProt: P04264

  • Chr Location
    12q13.13; chr12:52674736-52680407 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Krt1 mouse models; 4 with human KRT1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 3 alleles in 3 genetic backgrounds
    9 phenotypes from multigenic genotypes
    33 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice heterozygous for a dominant mutation exhibit significant blistering and skin erosions at birth and develop severe hyperkeratosis as adults. Mice homozygous for the dominant mutation also exhibit blistering, and die before weaning age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16678 NCBI Gene Model | MGI Sequence Detail 5361 C57BL/6J ±  kb
    transcript NM_008473 RefSeq | MGI Sequence Detail 2462 ZRU/MplStud  
    polypeptide P04104 UniProt | EBI | MGI Sequence Detail 637 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 182
      Genomic 5
      cDNA 168
      Primer pair 5
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11635, MGD-MRK-11653
    References
    more
    • Summaries
      All 207
      Developmental Gene Expression 135
      Diseases 2
      Gene Ontology 12
      Phenotypes 33
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:338452 Wang D, et al., MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters. Nat Commun. 2023 Jul 21;14(1):4404

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.
    last database update
    07/05/2024
    MGI 6.24
    The Jackson Laboratory