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

    Gene ID: 89832, updated on 28-Oct-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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