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Nipa1 Gene Detail
Summary
  • Symbol
    Nipa1
  • Name
    non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)
  • Synonyms
    1110027G09Rik, A830014A18Rik, Spg6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442058
    NCBI Gene: 233280
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:55628232-55669348 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 33.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    491 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442058
protein coding gene Chr7:55627315-55669702 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032315
protein coding gene Chr7:56783541-56827661 (-)
A/J MGP_AJ_G0032294
protein coding gene Chr7:55931925-55975424 (-)
AKR/J MGP_AKRJ_G0032230
protein coding gene Chr7:57240329-57281858 (-)
BALB/cJ MGP_BALBcJ_G0032306
protein coding gene Chr7:55542334-55585086 (-)
C3H/HeJ MGP_C3HHeJ_G0032019
protein coding gene Chr7:57576741-57619921 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032799
protein coding gene Chr7:59355587-59399227 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029806
protein coding gene Chr7:58598951-58640158 (-)
CAST/EiJ MGP_CASTEiJ_G0031348
protein coding gene Chr7:48788630-48836035 (-)
CBA/J MGP_CBAJ_G0031984
protein coding gene Chr7:61403028-61449452 (-)
DBA/2J MGP_DBA2J_G0032141
protein coding gene Chr7:54954883-55003560 (-)
FVB/NJ MGP_FVBNJ_G0032095
protein coding gene Chr7:54903098-54946478 (-)
LP/J MGP_LPJ_G0032222
protein coding gene Chr7:57843781-57889376 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032132
protein coding gene Chr7:60923920-60967257 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032816
protein coding gene Chr7:56222516-56266020 (-)
PWK/PhJ MGP_PWKPhJ_G0031068
protein coding gene Chr7:48211616-48254647 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030909
protein coding gene Chr7:44270695-44312321 (-)
WSB/EiJ MGP_WSBEiJ_G0031466
protein coding gene Chr7:56859959-56908545 (-)



Homology
more
  • Human Ortholog
    NIPA1, NIPA magnesium transporter 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NIPA1, NIPA magnesium transporter 1
  • Synonyms
    FSP3, SLC57A1, SPG6
  • Links
    NCBI Gene ID: 123606
    neXtProt AC: NX_Q7RTP0
    UniProt: Q7RTP0

  • Chr Location
    15q11.2; chr15:22773063-22829789 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with human NIPA1 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
    1 phenotype 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.
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 233280 NCBI Gene Model | MGI Sequence Detail 41117 C57BL/6J ±  kb
    transcript NM_153578 RefSeq | MGI Sequence Detail 1912 C57BL/6  
    polypeptide Q8BHK1 UniProt | EBI | MGI Sequence Detail 323 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 6
      cDNA 5
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1915904
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 1
      Gene Ontology 4
      Phenotypes 7
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:274872 Ingham NJ, et al., Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS Biol. 2019 Apr;17(4):e3000194

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory