Nipa1 MGI Mouse Gene Detail - MGI:2442058 - non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)

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

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr7:55628232-55669348 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 33.42 cM
Mapping Data

2 experiments

SNPs within 2kb

1574 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:17043

NCBI Gene ID: 123606

neXtProt AC: NX_Q7RTP0

UniProt: Q7RTP0
Chr Location

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

MGI Vertebrate Homology

Nipa1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NIPA1
Gene Tree

Nipa1

Diseases

1 with human NIPA1 associations

				Human Disease	Mouse Models
				hereditary spastic paraplegia 6 IDs hereditary spastic paraplegia 6 DOID:0110811 ICD10CM:G11.4 OMIM:600363 ORDO:100988

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
8 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

6
Endonuclease-mediated

2
Targeted

4
Incidental Mutations

APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

7
GO References

4

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.

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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

728
Tissues

21
cDNA Data

5
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nipa1

ZFIN nipa1

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All Sequences

38
RefSeq

2
UniProt

2
CCDS

CCDS21317.1

Ensembl

ENSMUSG00000047037 (Evidence)
NCBI Gene

233280

			Length	Strain/Species	Flank
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

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UniProt

2 Sequences
Protein Ontology

PR:000011217 magnesium transporter NIPA1

(term hierarchy)
InterPro Domains

IPR008521 Magnesium transporter NIPA

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All nucleic 6

cDNA 5

Other 1

Microarray probesets 5

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MGI:1915904

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 8
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Nipa1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr72657	Chr7:55669307-55669353 (-)	18 bp
Tssr72656	Chr7:55669220-55669260 (-)	108 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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