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FLASH GENE

Symbol

CATSPER1

contributors: mct - updated : 22-03-2019

HGNC name	cation channel, sperm associated 1
HGNC id	17116

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NSMI nonsyndromic male infertility
Location	11q13.1      Physical location : 65.784.223 - 65.793.988
Genatlas name	sperm-associated cation channel 1
Synonym name	cation channel of sperm
	sperm-associated cation channel 1
	sperm ion channel
	cation channel sperm-associated protein 1
	hCatSper
Synonym symbol(s)	CATSPER, MGC33335, MGC33368, SPGF7

DNA

TYPE	functioning gene
STRUCTURE	9.76 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	immediate upstream region and the first exon in the human CATSPER1 gene negatively regulate transcriptional activity
	promoter sequence is enriched in potential interaction sites for the sex-determining region Y gene (SRY), which suggest a novel regulatory transcriptional mechanism for CATSPER1 channel expression

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D11S4205 - D11S1883 - CATSPER1 - D11S913 - D11S1889 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_053054 12 - 2634 NP_444282 - 780 - 2015 26453676

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis     specific

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatozoa Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a single, six-transmembrane-spanning repeat with a P loop between transmembrane domains S5 and S6
	an intracellular N-terminal histidine-rich region
	a predicted calcium-selective pore region
	six-transmembrane-spanning repeat of the voltage-dependent Ca2+-channel four-repeat structure (

HOMOLOGY

interspecies

ortholog to Catsper1, Mus musculus

ortholog to Catsper1, << Homologene FAMILY cation channel sperm-associated family CATEGORY transport channel SUBCELLULAR LOCALIZATION     plasma membrane text restricted to the plasma membrane of spermatozoa above the fibrous sheath in the principal piece of the sperm tail basic FUNCTION being vital to cAMP-mediated calcium influx in sperm, sperm mobility and fertilization having required roles in male fertility required for Ca2+ entry into the flagellum and for Ca2+-mediated hyperactivated sperm motility CATSPER channel complex serves as a polymodal sensor for multiple chemical cues that assist sperm during their voyage across the female genital tract CATSPER1, CATSPER2 are voltage-dependent calcium channels located in the plasma membrane of the sperm flagellum and is responsible for triggering hyperactive motility encodes a pore-forming and pH-sensing subunit of the CATSPER Ca2+- permeable channel, a protein in the flagellum essential for sperm hyperactivation CELLULAR PROCESS cell communication PHYSIOLOGICAL PROCESS reproduction/sex text cation channel (voltage-gated- channel) PATHWAY metabolism signaling a component INTERACTION DNA RNA small molecule protein voltage-gated calcium channel Ca(v)3.3 ( molecular mechanism responsible for activation of CATSPER1, CATSPER2 by progesterone arises early in sperm development concurrently with the CATSPER channel itself transcription factors SOX5 and SOX9 caused a significant increase in transactivation of the CATSPER1 promoter in heterologous systems, and both transcription factors interact with the CATSPER1 promoter critical role of LRRC52 in CATSPER1 channels and loss of a non-pore-forming auxiliary subunit results in severe fertility impairment CRISP1 has the ability to regulate CATSPER1, the principal sperm Ca(2+) channel involved in hyperactivation and essential for fertility transcriptional factor SRY specifically binds to different sites in the promoter sequence and has the ability to control CATSPER1 gene transcription CRISP2 can bind to the CATSPER1 subunit of the Catsper ion channel which is required for normal sperm motility C2CD6 facilitates incorporation of the CATSPER1 complex into the flagellar plasma membrane and may function as a calcium sensor cell & other REGULATION activated by in response to intracellular alkalinization, increasing the concentration of intraflagellar calcium and thereby inducing hyperactivity of psermatozoa progesterone and alkaline pH ( ASSOCIATED DISORDERS corresponding disease(s) NSMI Other morbid association(s) Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         impairs the phase of motility of spermatozoa constitutional       loss of function loss of CATSPER1 function is sufficient to compromise fertilizing capacity of human spermatozoa Susceptibility Variant & Polymorphism Candidate gene Marker Therapy target System Type Disorder Pubmed reproduction contraception   blocking CATSPER1 activity could be useful as a male contraceptive ANIMAL & CELL MODELS Catsper 1 knock-out mice leads male sterility: sperm motility is decreased markedly in CatSper-/- mice, and CatSper-/- sperm are unable to fertilize intact eggs