kcc kazachoc [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: kccprovided by FlyBase
Official Full Name: kazachocprovided by FlyBase
Primary source: FLYBASE:FBgn0261794
Locus tag: Dmel_CG5594
See related: AllianceGenome:FB:FBgn0261794
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: 2R8; BEST:CK01510; CG2768; CG5594; CK01510; Dmel\CG5594; DmKCC; E(sda)J; Kcc; KCC; l(2)60A-C; Line J; mdcds_17605
Summary: Enables potassium:chloride symporter activity. Involved in mechanosensory behavior. Located in axon and neuronal cell body. Is expressed in several structures, including anal pad; anterior-posterior subdivision of organism; embryonic/larval midgut primordium; gut section; and synaptic neuropil domain. Used to study epilepsy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; agenesis of the corpus callosum with peripheral neuropathy; developmental and epileptic encephalopathy 34; and idiopathic generalized epilepsy 14. Orthologous to several human genes including SLC12A4 (solute carrier family 12 member 4); SLC12A5 (solute carrier family 12 member 5); and SLC12A7 (solute carrier family 12 member 7). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 60A9-60A11; 2-105 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2R	NT_033778.4 (23907654..23925066)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2R	NT_033778.3 (19795177..19812589)

Chromosome 2R - NT_033778.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The opposing chloride cotransporters KCC and NKCC control locomotor activity in constant light and during long days.
Title: The opposing chloride cotransporters KCC and NKCC control locomotor activity in constant light and during long days.
Knockdown of kcc in glia or neurons during development caused a reduction in seizure induction threshold, cell swelling, and brain volume increase.
Title: Modeling glial contributions to seizures and epileptogenesis: cation-chloride cotransporters in Drosophila melanogaster.
Young kcc mutant flies with low kcc levels display behavioral seizures and demonstrate a reduced threshold for seizures induced by electroconvulsive shock.
Title: Mutations in the K+/Cl- cotransporter gene kazachoc (kcc) increase seizure susceptibility in Drosophila.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables amino acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables potassium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium:chloride symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium:chloride symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amino acid transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cell volume homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mechanosensory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: kazachoc

Names: CG5594-PA; CG5594-PB; CG5594-PC; CG5594-PD; CG5594-PE; CG5594-PF; CG5594-PG; E(sda)J; kcc-PA; kcc-PB; kcc-PC; kcc-PD; kcc-PE; kcc-PF; kcc-PG; lethal (2) 60A-C

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NT_033778.4 Reference assembly

Range

23907654..23925066

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001299864.1 → NP_001286793.1 kazachoc, isoform E [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001286793.1

Status: REVIEWED

UniProtKB/TrEMBL

Q8MLQ5

Conserved Domains (2) summary

TIGR00930
Location:64 → 1074

2a30; K-Cl cotransporter

pfam03522
Location:689 → 1074

SLC12; Solute carrier family 12
NM_166630.2 → NP_726377.1 kazachoc, isoform D [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_726377.1

Status: REVIEWED

UniProtKB/TrEMBL

Q8MLQ5

Related

FBpp0072046

Conserved Domains (2) summary

TIGR00930
Location:64 → 1074

2a30; K-Cl cotransporter

pfam03522
Location:689 → 1074

SLC12; Solute carrier family 12
NM_166631.2 → NP_726378.1 kazachoc, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_726378.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9W1G6

Related

FBpp0072045

Conserved Domains (2) summary

TIGR00930
Location:64 → 1043

2a30; K-Cl cotransporter

pfam03522
Location:689 → 1043

SLC12; Solute carrier family 12
NM_001299865.1 → NP_001286794.1 kazachoc, isoform F [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001286794.1

Status: REVIEWED

UniProtKB/TrEMBL

A0A0B4LHE0

Conserved Domains (2) summary

TIGR00930
Location:56 → 1066

2a30; K-Cl cotransporter

pfam03522
Location:681 → 1066

SLC12; Solute carrier family 12
NM_131901.3 → NP_571976.2 kazachoc, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_571976.2

Status: REVIEWED

UniProtKB/TrEMBL

Q9W1G5

Related

FBpp0072048

Conserved Domains (2) summary

TIGR00930
Location:49 → 1059

2a30; K-Cl cotransporter

pfam03522
Location:674 → 1059

SLC12; Solute carrier family 12
NM_001299866.1 → NP_001286795.1 kazachoc, isoform G [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001286795.1

Status: REVIEWED

UniProtKB/TrEMBL

A0A0B4LGD3

Conserved Domains (2) summary

TIGR00930
Location:49 → 1077

2a30; K-Cl cotransporter

pfam03522
Location:674 → 1077

SLC12; Solute carrier family 12
NM_166632.2 → NP_726379.1 kazachoc, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_726379.1

Status: REVIEWED

UniProtKB/TrEMBL

Q8MKK5

Related

FBpp0072047

Conserved Domains (2) summary

TIGR00930
Location:49 → 1028

2a30; K-Cl cotransporter

pfam03522
Location:674 → 1028

SLC12; Solute carrier family 12