CHRFAM7A
CHRNA7-FAM7A fusion protein
Also known as: CHRNA7-DR1, CRFM7_HUMAN, D-10
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q494W8
- Gene
- CHRFAM7A
- Ensembl
- ENSG00000166664
- Chromosome
- 15
- Canonical length
- 412 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
412 residues, UniProt reviewed canonical sequence.
>Q494W8|CHRFAM7A
1 MQKYCIYQHF QFQLLIQHLW IAANCDIADE RFDATFHTNV LVNSSGHCQY LPPGIFKSSC
61 YIDVRWFPFD VQHCKLKFGS WSYGGWSLDL QMQEADISGY IPNGEWDLVG IPGKRSERFY
121 ECCKEPYPDV TFTVTMRRRT LYYGLNLLIP CVLISALALL VFLLPADSGE KISLGITVLL
181 SLTVFMLLVA EIMPATSDSV PLIAQYFAST MIIVGLSVVV TVIVLQYHHH DPDGGKMPKW
241 TRVILLNWCA WFLRMKRPGE DKVRPACQHK QRRCSLASVE MSAVAPPPAS NGNLLYIGFR
301 GLDGVHCVPT PDSGVVCGRM ACSPTHDEHL LHGGQPPEGD PDLAKILEEV RYIANRFRCQ
361 DESEAVCSEW KFAACVVDRL CLMAFSVFTI ICTIGILMSA PNFVEAVSKD FALocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHRFAM7A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 5
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 5.3 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 5.3 nTPM
- bone marrow: 4.1 nTPM
- testis: 2.5 nTPM
- blood vessel: 2.3 nTPM
- thyroid gland: 1.4 nTPM
- heart muscle: 1.2 nTPM
Single-cell type
- retinal horizontal cells: 6 nCPM
- podocytes: 5.9 nCPM
- distal convoluted tubule cells: 5.4 nCPM
- renal connecting tubule cells: 5.3 nCPM
- renal collecting duct principal cells: 4.6 nCPM
- loop of henle epithelial cells: 4.1 nCPM
Immune cell
- eosinophil: 2.9 nTPM
- myeloid DC: 1.4 nTPM
- classical monocyte: 0.9 nTPM
- NK-cell: 0.4 nTPM
- intermediate monocyte: 0.3 nTPM
- plasmacytoid DC: 0.3 nTPM
Brain region
- midbrain: 3.5 nTPM
- medulla oblongata: 3.1 nTPM
- pons: 2.8 nTPM
- cerebral cortex: 1.8 nTPM
- hypothalamus: 1.7 nTPM
- spinal cord: 1.5 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.59
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chemical synaptic transmission
- cognition
- monoatomic ion transmembrane transport
- regulation of membrane potential
Molecular functions
- acetylcholine-gated monoatomic cation-selective channel activity
- transmembrane signaling receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Neurotransmitter-gated ion-channel transmembrane domain
- Neurotransmitter-gated ion-channel
- Neurotransmitter-gated ion-channel ligand-binding domain
- Neurotransmitter-gated ion-channel, conserved site
- Neurotransmitter-gated ion-channel transmembrane domain superfamily
- Neurotransmitter-gated ion-channel ligand-binding domain superfamily
- Neuronal acetylcholine receptor
- Neurotransmitter-gated ion-channel ligand binding domain
- Neurotransmitter-gated ion-channel transmembrane region
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHRFAM7A as an antibody target. Whether an autoantibody or antibody against CHRFAM7A could matter depends on whether native CHRFAM7A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHRFAM7A is annotated at the cell surface, where native CHRFAM7A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CHRFAM7A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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