cftr CF transmembrane conductance regulator [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: cftrprovided by ZNC
Official Full Name: CF transmembrane conductance regulatorprovided by ZNC
Primary source: ZFIN:ZDB-GENE-050517-20
See related: Ensembl:ENSDARG00000041107 AllianceGenome:ZFIN:ZDB-GENE-050517-20
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: si:dkey-270i2.2
Summary: Enables ATP binding activity; ATP hydrolysis activity; and chloride channel activity. Acts upstream of or within several processes, including Kupffer's vesicle development; germ cell migration; and regulation of neutrophil chemotaxis. Located in apical plasma membrane. Is integral component of membrane. Is expressed in several structures, including Kupffer's vesicle; digestive system; forerunner cell group; head; and pleuroperitoneal region. Used to study cystic fibrosis and diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 18

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	18	NC_007129.7 (20677184..20722548)
105	previous assembly	GRCz10 (GCF_000002035.5)	18	NC_007129.6 (20688118..20733482)

Chromosome 18 - NC_007129.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Optimization of CFTR gating through the evolution of its extracellular loops.
Title: Optimization of CFTR gating through the evolution of its extracellular loops.
Cystic fibrosis transmembrane conductance regulator (CFTR) regulates embryonic organizer formation during zebrafish early embryogenesis.
Title: Cystic fibrosis transmembrane conductance regulator (CFTR) regulates embryonic organizer formation during zebrafish early embryogenesis.
CFTR deficiency causes cardiac dysplasia during zebrafish embryogenesis and is associated with dilated cardiomyopathy.
Title: CFTR deficiency causes cardiac dysplasia during zebrafish embryogenesis and is associated with dilated cardiomyopathy.
CFTR Depletion Confers Hypersusceptibility to Mycobacterium fortuitum in a Zebrafish Model.
Title: CFTR Depletion Confers Hypersusceptibility to Mycobacterium fortuitum in a Zebrafish Model.
Findings highlight the crucial and specific role of CFTR in the immune control of M. abscessus by mounting effective oxidative responses.
Title: CFTR Protects against Mycobacterium abscessus Infection by Fine-Tuning Host Oxidative Defenses.
CFTR is involved in the regulation of Wnt-dependent hematopoiesis through its interaction with and regulation of the degradation process of a key adaptor protein of Wnt signaling, Dvl2.
Title: CFTR mutation enhances Dishevelled degradation and results in impairment of Wnt-dependent hematopoiesis.
Described here is the chloride pathway of CFTR in atomic resolution for the first time. The results suggest that several intra- and extracellular entry sites may exist, no large conformational changes of the closed structures are required for opening and lipids may influence the channel path directly not only in an allosteric manner.
Title: Discovering the chloride pathway in the CFTR channel.
data not only provide a reasonable explanation for the unexpected closed-state structure of phosphorylated E1372Q-zCFTR with a canonical ATP-bound dimer of the nucleotide binding domains (NBDs), but also implicate significant structural and functional differences between these two evolutionarily distant orthologs.
Title: Functional characterization reveals that zebrafish CFTR prefers to occupy closed channel conformations.
study revealed an important role of cystic fibrosis transmembrane conductance regulator (CFTR) acting as an ion channel in regulating primordial germ cell migration during early embryogenesis
Title: CFTR is required for the migration of primordial germ cells during zebrafish early embryogenesis.
Molecular dynamics of the cryo-EM CFTR structure
Title: Molecular dynamics of the cryo-EM CFTR structure.

Submit: New GeneRIF Correction See all GeneRIFs (13)

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables bicarbonate transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride channel activity	IEA Inferred from Electronic Annotation more info
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables intracellularly ATP-gated chloride channel activity	IEA Inferred from Electronic Annotation more info
enables intracellularly ATP-gated chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Kupffer's vesicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within Spemann organizer formation at the embryonic shield	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to forskolin	ISS Inferred from Sequence or Structural Similarity more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within chloride transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within germ cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymphoid lineage cell migration into thymus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neutrophil chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory burst involved in defense response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transepithelial water transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cystic fibrosis transmembrane conductance regulator

Names: ATP-binding cassette sub-family C member 7; abcc7; cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

NP_001038348.1

EC 5.6.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001044883.1 → NP_001038348.1 cystic fibrosis transmembrane conductance regulator

Status: PROVISIONAL

Source sequence(s)

BX470130

UniProtKB/Swiss-Prot

B7ZVN9, Q1LX78

Related

ENSDARP00000060242.7, ENSDART00000060243.9

Conserved Domains (1) summary

cl28181
Location:1 → 1485

AAA; ATPases associated with a variety of cellular activities