Catsper1 MGI Mouse Gene Detail - MGI:2179947 - cation channel, sperm associated 1

Symbol

Catsper1
Name

cation channel, sperm associated 1
Synonyms

KSper

Feature Type

protein coding gene
IDs

MGI:2179947
NCBI Gene: 225865
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr19:5385769-5394308 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.30 cM, cytoband A
Mapping Data

1 experiment

SNPs within 2kb

227 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2179947	protein coding gene	Chr19:5385643-5394309 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024698	protein coding gene	Chr19:2291994-2300406 (+)
A/J	MGP_AJ_G0024664	protein coding gene	Chr19:2165180-2173607 (+)
AKR/J	MGP_AKRJ_G0024637	protein coding gene	Chr19:2229398-2237825 (+)
BALB/cJ	MGP_BALBcJ_G0024664	protein coding gene	Chr19:2164847-2173274 (+)
C3H/HeJ	MGP_C3HHeJ_G0024432	protein coding gene	Chr19:2234858-2243283 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025111	protein coding gene	Chr19:2346525-2354947 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022541	protein coding gene	Chr19:2075317-2084019 (+)
CAST/EiJ	MGP_CASTEiJ_G0023904	protein coding gene	Chr19:2265288-2273704 (+)
CBA/J	MGP_CBAJ_G0024404	protein coding gene	Chr19:2454937-2463352 (+)
DBA/2J	MGP_DBA2J_G0024531	protein coding gene	Chr19:2147366-2155791 (+)
FVB/NJ	MGP_FVBNJ_G0024498	protein coding gene	Chr19:2153686-2162609 (+)
LP/J	MGP_LPJ_G0024617	protein coding gene	Chr19:2273798-2282208 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024528	protein coding gene	Chr19:2308481-2316908 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025159	protein coding gene	Chr19:2230574-2238984 (+)
PWK/PhJ	MGP_PWKPhJ_G0023650	protein coding gene	Chr19:2185597-2194082 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023455	protein coding gene	Chr19:2220577-2228870 (+)
WSB/EiJ	MGP_WSBEiJ_G0023966	protein coding gene	Chr19:2247604-2256028 (+)

Human Ortholog

CATSPER1, cation channel sperm associated 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CATSPER1, cation channel sperm associated 1
Synonyms

CATSPER, SPGF7
Links

HGNC:17116

NCBI Gene ID: 117144

neXtProt AC: NX_Q8NEC5

UniProt: Q8NEC5
Chr Location

11q13.1; chr11:66016752-66026479 (-) GRCh38

MGI Vertebrate Homology

Catsper1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CATSPER1
Gene Tree

Catsper1

Diseases

1 with human CATSPER1 associations

				Human Disease	Mouse Models
				spermatogenic failure 7 IDs spermatogenic failure 7 DOID:0070173 MESH:C567832 OMIM:612997

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

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Phenotype Summary

8 phenotypes from 1 allele in 2 genetic backgrounds
1 phenotype from multigenic genotypes
32 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

8
Endonuclease-mediated

2
Targeted

6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit sperm with markedly decreased motility that are unable to fertilize ova and lack a calcium ion influx response to cyclic-AMP.

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All GO Annotations

29
GO References

12

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

757
Tissues

20
cDNA Data

1
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

34
RefSeq

7
UniProt

2
CCDS

CCDS29456.1

Ensembl

ENSMUSG00000038498 (Evidence)
NCBI Gene

225865

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038498	Ensembl Gene Model \| MGI Sequence Detail	8540	C57BL/6J	± kb
transcript	ENSMUST00000043380	Ensembl \| MGI Sequence Detail	2188	Not Applicable
polypeptide	ENSMUSP00000045430	Ensembl \| MGI Sequence Detail	686	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000000669 cation channel sperm-associated protein 1

(term hierarchy)
PDB

7EEB
InterPro Domains

IPR028746 Cation channel sperm-associated protein 1

IPR005821 Ion transport domain

IPR027359 Voltage-dependent channel domain superfamily

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All nucleic 4

Genomic 2

cDNA 1

Primer pair 1

Microarray probesets 2

Summaries

All 59

Developmental Gene Expression 4

Gene Ontology 12

Phenotypes 32
Earliest

J:72046 Ren D, et al., A sperm ion channel required for sperm motility and male fertility. Nature. 2001 Oct 11;413(6856):603-9
Latest

J:332576 Li X, et al., beta-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility. Cell Rep Med. 2022 Dec 20;3(12):100825

TSS for Catsper1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154403	Chr19:5385647-5385658 (+)	-116 bp
Tssr154404	Chr19:5385672-5385679 (+)	-93 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 11/05/2024 MGI 6.24