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

Gene ID: 89832, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:15781
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
all
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Genomic context

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See CHRFAM7A in Genome Data Viewer
Location:
15q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30360566..30393900, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28153934..28187176, complement)
RS_2024_09 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 LOC105370751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:30659256-30659756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:30659757-30660257 Neighboring gene U8 small nucleolar RNA 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. CHRFAM7A, a human-specific and partially duplicated α7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injury. Costantini TW, et al. J Leukoc Biol, 2015 Feb. PMID 25473097, Free PMC Article
  2. Global proteomic profiling of the uniquely human CHRFAM7A gene in transgenic mouse brain. Jiang Y, et al. Gene, 2019 Sep 25. PMID 31348980
  3. Effect of donepezil on the expression and responsiveness to LPS of CHRNA7 and CHRFAM7A in macrophages: A possible link to the cholinergic anti-inflammatory pathway. Maroli A, et al. J Neuroimmunol, 2019 Jul 15. PMID 31048268
  4. Association of a Functional Polymorphism in the CHRFAM7A Gene with Inflammatory Response Mediators and Neuropathic Pain after Spinal Cord Injury. Huang W, et al. J Neurotrauma, 2019 Nov 1. PMID 30924722
  5. Alpha7-nicotinic acetylcholine receptors affect growth regulation of human mesothelioma cells: role of mitogen-activated protein kinase pathway. Trombino S, et al. Cancer Res, 2004 Jan 1. PMID 14729617

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The human-specific nicotinic receptor subunit CHRFAM7A reduces alpha7 receptor function in human induced pluripotent stem cells-derived and transgenic mouse neurons.
    Title: The human-specific nicotinic receptor subunit CHRFAM7A reduces α7 receptor function in human induced pluripotent stem cells-derived and transgenic mouse neurons.
  2. CHRFAM7A diversifies human immune adaption through Ca[2+] signalling and actin cytoskeleton reorganization.
    Title: CHRFAM7A diversifies human immune adaption through Ca(2+) signalling and actin cytoskeleton reorganization.
  3. Unraveling the molecular interactions between alpha7 nicotinic receptor and a RIC3 variant associated with backward speech.
    Title: Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.
  4. Structural mechanisms of alpha7 nicotinic receptor allosteric modulation and activation.
    Title: Structural mechanisms of α7 nicotinic receptor allosteric modulation and activation.
  5. Human-specific CHRFAM7A primes macrophages for a heightened pro-inflammatory response at the earlier stage of inflammation.
    Title: Human-specific CHRFAM7A primes macrophages for a heightened pro-inflammatory response at the earlier stage of inflammation.
  6. An original potentiating mechanism revealed by the cryo-EM structures of the human alpha7 nicotinic receptor in complex with nanobodies.
    Title: An original potentiating mechanism revealed by the cryo-EM structures of the human α7 nicotinic receptor in complex with nanobodies.
  7. Human-specific duplicate CHRFAM7A gene is associated with more severe osteoarthritis and amplifies pain behaviours.
    Title: Human-specific duplicate CHRFAM7A gene is associated with more severe osteoarthritis and amplifies pain behaviours.
  8. Up-regulation of the human-specific CHRFAM7A gene protects against renal fibrosis in mice with obstructive nephropathy.
    Title: Up-regulation of the human-specific CHRFAM7A gene protects against renal fibrosis in mice with obstructive nephropathy.
  9. The Human-Restricted Isoform of the alpha7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders.
    Title: The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders.
  10. CHRFAM7A Overexpression Attenuates Cerebral Ischemia-Reperfusion Injury via Inhibiting Microglia Pyroptosis Mediated by the NLRP3/Caspase-1 pathway.
    Title: CHRFAM7A Overexpression Attenuates Cerebral Ischemia-Reperfusion Injury via Inhibiting Microglia Pyroptosis Mediated by the NLRP3/Caspase-1 pathway.
Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC120482, MGC120483

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylcholine-gated monoatomic cation-selective channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of acetylcholine-gated channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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)

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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)

  1. NM_139320.2 → NP_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
    A8KAB9, Q494W8
    UniProtKB/TrEMBL
    A0A0G2JMC1
    Related
    ENSP00000299847.3, ENST00000299847.7
    Conserved Domains (1) summary
    TIGR00860
    Location:28 → 400
    LIC; Cation transporter family protein

  2. NM_148911.1 → NP_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/TrEMBL
    A0A0A6YYA8, A0A0G2JNX5
    Related
    ENSP00000380927.3, ENST00000397827.7
    Conserved Domains (1) summary
    TIGR00860
    Location:3 → 309
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    30360566..30393900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522153.3 → XP_011520455.1  CHRNA7-FAM7A fusion protein isoform X1

    See identical proteins and their annotated locations for XP_011520455.1

    UniProtKB/Swiss-Prot
    A8KAB9, Q494W8
    UniProtKB/TrEMBL
    A0A0G2JMC1
    Conserved Domains (1) summary
    TIGR00860
    Location:28 → 400
    LIC; Cation transporter family protein

  2. XM_011522155.4 → XP_011520457.1  CHRNA7-FAM7A fusion protein isoform X3

    UniProtKB/TrEMBL
    A0A1B0GTT9
    Conserved Domains (2) summary
    pfam02931
    Location:18 → 140
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:147 → 203
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  3. XM_005254750.4 → XP_005254807.1  CHRNA7-FAM7A fusion protein isoform X2

    See identical proteins and their annotated locations for XP_005254807.1

    UniProtKB/TrEMBL
    A0A0A6YYA8, A0A0G2JNX5
    Related
    ENSP00000385389.3, ENST00000401522.7
    Conserved Domains (1) summary
    TIGR00860
    Location:3 → 309
    LIC; Cation transporter family protein

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    2533056..2566055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    2645540..2678539 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    28153934..28187176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379105.1 → XP_054235080.1  CHRNA7-FAM7A fusion protein isoform X1

    UniProtKB/Swiss-Prot
    A8KAB9, Q494W8

  2. XM_054379107.1 → XP_054235082.1  CHRNA7-FAM7A fusion protein isoform X3

  3. XM_054379106.1 → XP_054235081.1  CHRNA7-FAM7A fusion protein isoform X2

    UniProtKB/TrEMBL
    A0A0A6YYA8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q494W8.1 GenPept UniProtKB/Swiss-Prot:Q494W8

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