Krt1 MGI Mouse Gene Detail - MGI:96698

Symbol

Krt1
Name

keratin 1
Synonyms

Krt-2.1, Krt2-1

Feature Type

protein coding gene
IDs

MGI:96698
NCBI Gene: 16678
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr15:101753861-101759221 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 57.06 cM
Mapping Data

2 experiments

SNPs within 2kb

198 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:6412

NCBI Gene ID: 3848

neXtProt AC: NX_P04264

UniProt: P04264
Chr Location

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

MGI Vertebrate Homology

Krt1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KRT1
Gene Tree

Krt1

Diseases

1 with Krt1 mouse models; 5 with human KRT1 associations

Human Disease

Mouse Models

epidermolytic hyperkeratosis

IDs

View 1 model

epidermolytic hyperkeratosis 1

IDs

epidermolytic palmoplantar keratoderma 2

IDs

keratosis palmoplantaris striata 3

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

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Phenotype Summary

41 phenotypes from 3 alleles in 3 genetic backgrounds
9 phenotypes from multigenic genotypes
33 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

9
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

2
Targeted

3
Genomic Mutations

4 involving Krt1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

68 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

30
GO References

11

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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

812
Tissues

29
cDNA Data

167
Literature Summary

137

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

33
RefSeq

2
UniProt

1
CCDS

CCDS37221.1

Ensembl

ENSMUSG00000046834 (Evidence)
NCBI Gene

16678

			Length	Strain/Species	Flank
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

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UniProt

1 Sequence
Protein Ontology

PR:000009450 keratin, type II cytoskeletal 1

(term hierarchy)
InterPro Domains

IPR018039 Intermediate filament protein, conserved site

IPR039008 Intermediate filament, rod domain

IPR003054 Keratin, type II

IPR032449 Keratin type II cytoskeletal 1, tail

IPR032444 Keratin type II head
GlyGen

P04104 3 sites, 1 O-linked glycan (3 sites)

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All nucleic 182

Genomic 5

cDNA 168

Primer pair 5

Other 4

Microarray probesets 3

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MGD-MRK-11635, MGD-MRK-11653

Summaries

All 208

Developmental Gene Expression 137

Diseases 2

Gene Ontology 11

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:355461 Deng Z, et al., Single-cell transcriptomics reveals the cellular identity of a novel progenitor population crucial for murine neural tube closure. Heliyon. 2024 Sep 15;10(17):e37259

TSS for Krt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr136633	Chr15:101760415-101760419 (-)	-1,196 bp
Tssr136632	Chr15:101759213-101759227 (-)	1 bp
Tssr136631	Chr15:101757553-101757567 (-)	1,661 bp
Tssr136630	Chr15:101757508-101757549 (-)	1,692 bp
Tssr136629	Chr15:101757484-101757495 (-)	1,731 bp
Tssr136628	Chr15:101756566-101756595 (-)	2,640 bp
Tssr136627	Chr15:101755428-101755437 (-)	3,788 bp
Tssr136626	Chr15:101755314-101755339 (-)	3,894 bp
Tssr136625	Chr15:101755285-101755305 (-)	3,926 bp
Tssr136624	Chr15:101754846-101754857 (-)	4,369 bp
Tssr136623	Chr15:101754826-101754845 (-)	4,385 bp
Tssr136622	Chr15:101754709-101754720 (-)	4,506 bp
Tssr136621	Chr15:101754469-101754481 (-)	4,746 bp
Tssr136620	Chr15:101754389-101754432 (-)	4,810 bp
Tssr136619	Chr15:101754368-101754388 (-)	4,843 bp
Tssr136618	Chr15:101754322-101754334 (-)	4,893 bp
Tssr136617	Chr15:101754196-101754207 (-)	5,019 bp
Tssr136616	Chr15:101754095-101754106 (-)	5,120 bp
Tssr136615	Chr15:101753904-101753922 (-)	5,308 bp

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)
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