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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
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:46038982-46057186 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 27.59 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    713 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 Chr11:46038982-46057335 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NIPAL4, NIPA like domain containing 4
  • Synonyms
    ARCI6, ICHTHYIN, ICHYN, NIPA4, SLC57A6
  • Links
    NCBI Gene ID: 348938
    neXtProt AC: NX_Q0D2K0
    UniProt: Q0D2K0

  • Chr Location
    5q33.3; chr5:157460213-157474722 (+)  GRCh38
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
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 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
    6
  • GO References
    5
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.
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
    706
  • cDNA Data
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 29
      Gene Ontology 5
      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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory