Nxph1 MGI Mouse Gene Detail - MGI:107492

Symbol

Nxph1
Name

neurexophilin 1
Synonyms

C130005L03Rik

Feature Type

protein coding gene
IDs

MGI:107492
NCBI Gene: 18231
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr6:8948431-9249032 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 4.38 cM, cytoband A1
Mapping Data

2 experiments

SNPs within 2kb

7716 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107492	protein coding gene	Chr6:8948154-9259863 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030453	protein coding gene	Chr6:5890945-6198091 (+)
A/J	MGP_AJ_G0030426	protein coding gene	Chr6:5677688-5984018 (+)
AKR/J	MGP_AKRJ_G0030353	protein coding gene	Chr6:5889338-6207909 (+)
BALB/cJ	MGP_BALBcJ_G0030435	protein coding gene	Chr6:5658539-5969734 (+)
C3H/HeJ	MGP_C3HHeJ_G0030149	protein coding gene	Chr6:5782747-6090344 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030890	protein coding gene	Chr6:6066402-6389983 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028101	protein coding gene	Chr6:5170000-5466324 (+)
CAST/EiJ	MGP_CASTEiJ_G0029550	protein coding gene	Chr6:5768780-6083850 (+)
CBA/J	MGP_CBAJ_G0030127	protein coding gene	Chr6:6211798-6514501 (+)
DBA/2J	MGP_DBA2J_G0030271	protein coding gene	Chr6:5614983-5911169 (+)
FVB/NJ	MGP_FVBNJ_G0030225	protein coding gene	Chr6:5578877-5873446 (+)
LP/J	MGP_LPJ_G0030358	protein coding gene	Chr6:5855578-6177776 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030261	protein coding gene	Chr6:6317857-6673933 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030920	protein coding gene	Chr6:5761676-6077078 (+)
PWK/PhJ	MGP_PWKPhJ_G0029265	protein coding gene	Chr6:5502585-5805271 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029101	protein coding gene	Chr6:5817787-6126647 (+)
WSB/EiJ	MGP_WSBEiJ_G0029627	protein coding gene	Chr6:5762660-6074068 (+)

Human Ortholog

NXPH1, neurexophilin 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NXPH1, neurexophilin 1
Synonyms

Nbla00697, NPH1
Links

HGNC:20693

NCBI Gene ID: 30010

neXtProt AC: NX_P58417

UniProt: P58417
Chr Location

7p21.3; chr7:8433609-8752961 (+) GRCh38

MGI Vertebrate Homology

Nxph1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NXPH1
Protein SuperFamily

Neurexophilin
Gene Tree

Nxph1

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
2 phenotypes from multigenic genotypes
6 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

4
Endonuclease-mediated

2
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted mutation show no obvious morbidity, premature mortality, or anatomical defects. However, males exhibit sterility and testis abnormalities probably because homologous recombination results in co-insertion of the 5' part of the HSV-TK cassette into the targeted locus.

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All GO Annotations

10
GO References

3

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

774
Tissues

22
cDNA Data

14
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nxph1

ZFIN nxph1

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All Sequences

48
RefSeq

6
UniProt

3
CCDS

CCDS39426.1

Ensembl

ENSMUSG00000046178 (Evidence)
NCBI Gene

18231

			Length	Strain/Species	Flank
genomic	ENSMUSG00000046178	Ensembl Gene Model \| MGI Sequence Detail	300602	C57BL/6J	± kb
transcript	ENSMUST00000160300	Ensembl \| MGI Sequence Detail	2815	Not Applicable
polypeptide	ENSMUSP00000125274	Ensembl \| MGI Sequence Detail	271	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000011542 neurexophilin-1

(term hierarchy)
InterPro Domains

IPR010450 Neurexophilin

IPR026845 Neurexophilin/NXPE
GlyGen

Q61200 6 sites, 7 N-linked glycans (5 sites)

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All nucleic 19

Genomic 2

cDNA 15

Primer pair 1

Other 1

Microarray probesets 6

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MGD-MRK-36060, MGI:2444857

Summaries

All 38

Developmental Gene Expression 14

Gene Ontology 3

Phenotypes 6
Earliest

J:34033 Petrenko AG, et al., Structure and evolution of neurexophilin. J Neurosci. 1996 Jul 15;16(14):4360-9
Latest

J:341393 Cheffer A, et al., DOT1L deletion impairs the development of cortical parvalbumin-expressing interneurons. Cereb Cortex. 2023 Sep 26;33(19):10272-10285

TSS for Nxph1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr54925	Chr6:8948427-8948438 (+)	2 bp
Tssr54926	Chr6:8948570-8948602 (+)	155 bp
Tssr54927	Chr6:8948608-8948619 (+)	183 bp
Tssr54928	Chr6:8948915-8948929 (+)	491 bp
Tssr54929	Chr6:8948951-8948963 (+)	526 bp
Tssr54930	Chr6:8949052-8949068 (+)	629 bp
Tssr54931	Chr6:8949670-8949686 (+)	1,247 bp
Tssr54932	Chr6:8949812-8949830 (+)	1,390 bp
Tssr54933	Chr6:9096389-9096395 (+)	147,961 bp
Tssr54934	Chr6:9105073-9105074 (+)	156,643 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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