CHRFAM7A

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]

Description

CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion

Tissue specificity

Tissue enhanced (bone marrow, parathyroid gland)

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

15 (30360566 - 30393849)

Ensembl ID

ENSG00000166664  (ver. 103.38)

Orthologs

-

UniProt

Q494W8

neXtProt

NX_Q494W8

Human splice variants

Protein structure