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CHRFAM7A CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion [ Homo sapiens (human) ]

Gene ID: 89832, updated on 13-Feb-2019

Summary

Official Symbol
CHRFAM7Aprovided by HGNC
Official Full Name
CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusionprovided by HGNC
Primary source
HGNC:HGNC:15781
See related
Ensembl:ENSG00000166664 MIM:609756
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D-10; CHRNA7; NACHRA7; CHRNA7-DR1
Summary
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]
Expression
Broad expression in adrenal (RPKM 4.3), small intestine (RPKM 4.0) and 19 other tissues See more
Orthologs

Genomic context

See CHRFAM7A in Genome Data Viewer
Location:
15q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (30360566..30393849, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (30652769..30685864, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 pseudogene Neighboring gene RNA, U6 small nuclear 17, pseudogene Neighboring gene uncharacterized LOC102724055 Neighboring gene uncharacterized LOC105370751 Neighboring gene uncharacterized LOC101927788 Neighboring gene dynamin 1 pseudogene 29 Neighboring gene RNA, 7SL, cytoplasmic 196, pseudogene Neighboring gene golgin A8 family member R

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 IIIB Env (gp120) engages CXCR4 and downregulates CHRFAM7A expression in neuronal cells; this effect can be inhibited AMD3100 treatment PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • MGC120482, MGC120483

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to acetylcholine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
acetylcholine-gated channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
CHRNA7-FAM7A fusion protein
Names
CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
CHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
Neuronal acetylcholine receptor subunit alpha-7
alpha 7 neuronal nicotinic acetylcholine receptor-FAM7A hybrid
alpha-7 nicotinic cholinergic receptor subunit

NCBI Reference Sequences (RefSeq)

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)

  1. NM_139320.1NP_647536.1  CHRNA7-FAM7A fusion protein isoform 1

    See identical proteins and their annotated locations for NP_647536.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the full-length variant and encodes the longer isoform (1).
    Source sequence(s)
    AC019322
    Consensus CDS
    CCDS32184.1
    UniProtKB/Swiss-Prot
    Q494W8
    Related
    ENSP00000299847.2, ENST00000299847.6
    Conserved Domains (1) summary
    cl27321
    Location:28400
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. NM_148911.1NP_683709.1  CHRNA7-FAM7A fusion protein isoform 2

    See identical proteins and their annotated locations for NP_683709.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon compared to variant 1, and is missing the translation initiation site used by the longer variant. Translation from variant 2 initiates at a downstream site relative to variant 1, resulting in isoform (2), which is truncated at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC019322
    Consensus CDS
    CCDS42008.1
    UniProtKB/Swiss-Prot
    P36544
    UniProtKB/TrEMBL
    A0A0A6YYA8
    Related
    ENSP00000380927.3, ENST00000397827.7
    Conserved Domains (1) summary
    cl27321
    Location:3309
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    30360566..30393849 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522153.2XP_011520455.1  CHRNA7-FAM7A fusion protein isoform X1

    See identical proteins and their annotated locations for XP_011520455.1

    UniProtKB/Swiss-Prot
    Q494W8
    Conserved Domains (1) summary
    cl27321
    Location:28400
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_011522155.3XP_011520457.1  CHRNA7-FAM7A fusion protein isoform X3

    Conserved Domains (2) summary
    pfam02931
    Location:18140
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:147203
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. XM_005254750.3XP_005254807.1  CHRNA7-FAM7A fusion protein isoform X2

    See identical proteins and their annotated locations for XP_005254807.1

    UniProtKB/Swiss-Prot
    P36544
    UniProtKB/TrEMBL
    A0A0A6YYA8
    Related
    ENSP00000385389.3, ENST00000401522.7
    Conserved Domains (1) summary
    cl27321
    Location:3309
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p12 PATCHES

    Range
    2533730..2566055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    2646214..2678539 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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