Nptx1 MGI Mouse Gene Detail - MGI:107811

Symbol

Nptx1
Name

neuronal pentraxin 1
Synonyms

D11Bwg1004e, Np1

Feature Type

protein coding gene
IDs

MGI:107811
NCBI Gene: 18164
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:119429545-119438579 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 83.95 cM, cytoband E1-E2
Mapping Data

3 experiments

SNPs within 2kb

183 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107811	protein coding gene	Chr11:119429545-119438646 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019484	protein coding gene	Chr11:123949563-123958597 (-)
A/J	MGP_AJ_G0019452	protein coding gene	Chr11:118441618-118450652 (-)
AKR/J	MGP_AKRJ_G0019422	protein coding gene	Chr11:122006549-122015583 (-)
BALB/cJ	MGP_BALBcJ_G0019427	protein coding gene	Chr11:118799850-118808884 (-)
C3H/HeJ	MGP_C3HHeJ_G0019233	protein coding gene	Chr11:122333925-122342991 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019876	protein coding gene	Chr11:127720613-127731899 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017501	protein coding gene	Chr11:115438527-115447558 (-)
CAST/EiJ	MGP_CASTEiJ_G0018787	protein coding gene	Chr11:123802999-123812033 (-)
CBA/J	MGP_CBAJ_G0019204	protein coding gene	Chr11:132697762-132709628 (-)
DBA/2J	MGP_DBA2J_G0019316	protein coding gene	Chr11:117812668-117822213 (-)
FVB/NJ	MGP_FVBNJ_G0019308	protein coding gene	Chr11:117490681-117499740 (-)
LP/J	MGP_LPJ_G0019388	protein coding gene	Chr11:124267430-124276464 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019341	protein coding gene	Chr11:131595230-131604264 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019915	protein coding gene	Chr11:122688820-122697854 (-)
PWK/PhJ	MGP_PWKPhJ_G0018553	protein coding gene	Chr11:119221933-119230972 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018345	protein coding gene	Chr11:122451418-122460430 (-)
WSB/EiJ	MGP_WSBEiJ_G0018839	protein coding gene	Chr11:122677143-122686208 (-)

Human Ortholog

NPTX1, neuronal pentraxin 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NPTX1, neuronal pentraxin 1
Synonyms

NP1, SCA50
Links

HGNC:7952

NCBI Gene ID: 4884

neXtProt AC: NX_Q15818

UniProt: Q15818
Chr Location

17q25.3; chr17:80466834-80477843 (-) GRCh38

MGI Vertebrate Homology

Nptx1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NPTX1
Gene Tree

Nptx1

Diseases

1 with human NPTX1 associations

				Human Disease	Mouse Models
				autosomal dominant cerebellar ataxia IDs autosomal dominant cerebellar ataxia DOID:1441 DOID:2478 ICD9CM:334.3 MESH:D020754 NCI:C82341 OMIM:PS164400 ORDO:94 UMLS_CUI:C0087012

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

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Phenotype Summary

3 phenotypes from 1 allele in 2 genetic backgrounds
3 phenotypes from multigenic genotypes
12 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

5
Endonuclease-mediated

3
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

25 strains or lines available

Mice homozygous for a null mutation of this gene display a mild alteration in retinal ganglion cell innervation but are fertile with no obvious behavioral abnormalities.

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All GO Annotations

22
GO References

7

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

858
Tissues

43
cDNA Data

24
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nptx1

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All Sequences

39
RefSeq

2
UniProt

3
CCDS

CCDS25719.1

Ensembl

ENSMUSG00000025582 (Evidence)
NCBI Gene

18164

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025582	Ensembl Gene Model \| MGI Sequence Detail	9035	C57BL/6J	± kb
transcript	ENSMUST00000026670	Ensembl \| MGI Sequence Detail	5217	Not Applicable
polypeptide	ENSMUSP00000026670	Ensembl \| MGI Sequence Detail	432	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000011382 neuronal pentraxin-1

(term hierarchy)
InterPro Domains

IPR013320 Concanavalin A-like lectin/glucanase domain superfamily

IPR051360 Neuronal Pentraxin and Related

IPR030476 Pentaxin, conserved site

IPR001759 Pentraxin-related
GlyGen

Q62443 3 sites, 13 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 26

Genomic 1

cDNA 24

Primer pair 1

Microarray probesets 4

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MGD-MRK-34057, MGD-MRK-36388

Summaries

All 47

Developmental Gene Expression 6

Gene Ontology 7

Phenotypes 12
Earliest

J:35528 Omeis IA, et al., Mouse and human neuronal pentraxin 1 (NPTX1): conservation, genomic structure, and chromosomal localization. Genomics. 1996 Sep 15;36(3):543-5
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Nptx1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112232	Chr11:119438570-119438585 (-)	1 bp
Tssr112231	Chr11:119432271-119432291 (-)	6,298 bp
Tssr112230	Chr11:119431959-119431978 (-)	6,610 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24