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Nipal4 Gene Detail
Summary
  • Symbol
    Nipal4
  • Name
    NIPA-like domain containing 4
  • Synonyms
    9530066K23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444671
    NCBI Gene: 214112
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:46148155-46166359 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 27.59 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    199 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444671
protein coding gene Chr11:46148155-46166508 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018189
protein coding gene Chr11:45051437-45070863 (-)
A/J MGP_AJ_G0018161
protein coding gene Chr11:43322447-43340885 (-)
AKR/J MGP_AKRJ_G0018126
protein coding gene Chr11:44560970-44579372 (-)
BALB/cJ MGP_BALBcJ_G0018130
protein coding gene Chr11:43478818-43497235 (-)
C3H/HeJ MGP_C3HHeJ_G0017944
protein coding gene Chr11:44607673-44629540 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018584
protein coding gene Chr11:46390999-46410399 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016239
protein coding gene Chr11:41303352-41321961 (-)
CAST/EiJ MGP_CASTEiJ_G0017507
protein coding gene Chr11:44736822-44754617 (-)
CBA/J MGP_CBAJ_G0017916
protein coding gene Chr11:48566255-48586918 (-)
DBA/2J MGP_DBA2J_G0018026
protein coding gene Chr11:43067715-43086129 (-)
FVB/NJ MGP_FVBNJ_G0018020
protein coding gene Chr11:42746675-42765014 (-)
LP/J MGP_LPJ_G0018098
protein coding gene Chr11:45297849-45316306 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018044
protein coding gene Chr11:50100414-50123314 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018623
protein coding gene Chr11:44727909-44746152 (-)
PWK/PhJ MGP_PWKPhJ_G0017287
protein coding gene Chr11:43147326-43165624 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017080
protein coding gene Chr11:44529634-44547815 (-)
WSB/EiJ MGP_WSBEiJ_G0017557
protein coding gene Chr11:44430865-44451144 (-)



Homology
more
  • Human Ortholog
    NIPAL4, NIPA like domain containing 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NIPAL4, NIPA like domain containing 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARCI6, ICHTHYIN, ICHYN
  • Links
    NCBI Gene ID: 348938
    neXtProt AC: NX_Q0D2K0
    UniProt: Q0D2K0

  • Chr Location
    5q33.3; chr5:157460019-157474722 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human NIPAL4 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 1 allele in 1 genetic background
    7 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit complete neonatal lethality, impaired skin barrier function, weight loss, abnormal skin appearance, hyperkeratosis, impaired formation of lipid lamellae and keratohyalin granules, and altered epidermal ceramide composition.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 214112 NCBI Gene Model | MGI Sequence Detail 18205 C57BL/6J ±  kb
transcript NM_172524 RefSeq | MGI Sequence Detail 3295 C57BL/6  
polypeptide Q8BZF2 UniProt | EBI | MGI Sequence Detail 406 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 9
    cDNA 9

    Microarray probesets 3
References
more
  • Summaries
    All 28
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:261184 Honda Y, et al., Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice. J Invest Dermatol. 2018 Apr;138(4):741-749

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
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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory