CFTR CF transmembrane conductance regulator [Bos taurus (cattle)] - Gene

Summary

Official Symbol: CFTRprovided by VGNC
Official Full Name: CF transmembrane conductance regulatorprovided by VGNC
Primary source: VGNC:VGNC:50053
See related: BGD:BT10672; Ensembl:ENSBTAG00000006589
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Annotation information: Annotation category: partial on reference assembly
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 4

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2023_09	current	ARS-UCD2.0 (GCF_002263795.3)	4	NC_037331.1 (50743789..50957592, complement)

Chromosome 4 - NC_037331.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037331.1 Chromosome 4 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The missense mutation Met468Leu within CFTR gene is associated with antioxidant enzyme activity and mitochondrial function of bovine thawed sperm without affecting their motility.
Title: Missense mutation within cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with selected parameters of the frozen-thawed sperm in Holstein-Friesian bulls.
conserved CFTR sequences between species are examined for potential regulatory elements. Regions of introns 2, 3, 10, 17a, 18, and 21 and 3' flanking sequence corresponding to human CFTR DNase I hypersensitive sites showed high homology in cow and pig.
Title: A comparative genomic analysis of the cow, pig, and human CFTR genes identifies potential intronic regulatory elements.

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General gene information

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Markers

CC517995 (e-PCR)
- UniSTS:475184

CFTR (e-PCR), detects polymorphism
- UniSTS:38709

CFTR (e-PCR), detects polymorphism
- UniSTS:42397

CFTR (e-PCR), detects polymorphism
- UniSTS:278195

GDB:176433 (e-PCR)
- UniSTS:154810

GDB:204205 (e-PCR)
- UniSTS:156111

CFTR (e-PCR), detects polymorphism
- UniSTS:253408

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info	PubMed
enables chloride channel activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info	PubMed
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: cystic fibrosis transmembrane conductance regulator

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

NP_776443.1

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_174018.2 → NP_776443.1 cystic fibrosis transmembrane conductance regulator

See identical proteins and their annotated locations for NP_776443.1

Status: PROVISIONAL

Source sequence(s)

M76128

UniProtKB/TrEMBL

F1MN01

Related

ENSBTAP00000049907.1, ENSBTAT00000053450.2

Conserved Domains (5) summary

cd03291
Location:389 → 669

ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C

TIGR01271
Location:1 → 1469

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:913 → 1147

ABC_membrane; ABC transporter transmembrane region

pfam14396
Location:638 → 849

CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain

cl21455
Location:1209 → 1453

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases