CRFM7_HUMAN
ID CRFM7_HUMAN Reviewed; 412 AA.
AC Q494W8; A8KAB9;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2005, sequence version 1.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=CHRNA7-FAM7A fusion protein;
DE AltName: Full=CHRNA7-DR1;
DE AltName: Full=D-10;
GN Name=CHRFAM7A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-62, AND TISSUE SPECIFICITY.
RC TISSUE=Hippocampus;
RX PubMed=9782083; DOI=10.1006/geno.1998.5363;
RA Gault J., Robinson M., Berger R., Drebing C., Logel J., Hopkins J.,
RA Moore T., Jacobs S., Meriwether J., Choi M.J., Kim E.J., Walton K.,
RA Buiting K., Davis A., Breese C., Freedman R., Leonard S.;
RT "Genomic organization and partial duplication of the human alpha7 neuronal
RT nicotinic acetylcholine receptor gene (CHRNA7).";
RL Genomics 52:173-185(1998).
CC -!- INTERACTION:
CC Q494W8; P36544: CHRNA7; NbExp=3; IntAct=EBI-20798208, EBI-79333;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in hippocampus.
CC {ECO:0000269|PubMed:9782083}.
CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family.
CC {ECO:0000305}.
CC -!- CAUTION: This protein is encoded by a hybrid gene consisting of a
CC duplication of exons 5 through 10 of the CHRNA7 gene fused 3-prime to a
CC copy of the FAM7A gene (exons A through E). The CHRFAM7A gene is in the
CC opposite orientation to the CHRNA7 gene. It seems not to be represented
CC on every human chromosome 15 and it is not clear whether the transcript
CC is actually translated. {ECO:0000305}.
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DR EMBL; AK292984; BAF85673.1; -; mRNA.
DR EMBL; BC101346; AAI01347.1; -; mRNA.
DR EMBL; BC101347; AAI01348.1; -; mRNA.
DR EMBL; BC101348; AAI01349.1; -; mRNA.
DR EMBL; AC010799; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC019322; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF029838; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS32184.1; -.
DR RefSeq; NP_647536.1; NM_139320.1.
DR RefSeq; XP_011520455.1; XM_011522153.1.
DR AlphaFoldDB; Q494W8; -.
DR SMR; Q494W8; -.
DR BioGRID; 124609; 1.
DR IntAct; Q494W8; 1.
DR STRING; 9606.ENSP00000299847; -.
DR DrugBank; DB07494; (3-EXO)-3-(10,11-DIHYDRO-5H-DIBENZO[A,D][7]ANNULEN-5-YLOXY)-8,8-DIMETHYL-8-AZONIABICYCLO[3.2.1]OCTANE.
DR DrugBank; DB07720; Epibatidine.
DR DrugBank; DB11421; Imidacloprid.
DR DrugBank; DB08620; Thiacloprid.
DR BioMuta; CHRFAM7A; -.
DR DMDM; 91208254; -.
DR MassIVE; Q494W8; -.
DR PaxDb; Q494W8; -.
DR PeptideAtlas; Q494W8; -.
DR PRIDE; Q494W8; -.
DR Antibodypedia; 9365; 164 antibodies from 25 providers.
DR DNASU; 89832; -.
DR Ensembl; ENST00000299847.7; ENSP00000299847.3; ENSG00000166664.15.
DR GeneID; 89832; -.
DR KEGG; hsa:89832; -.
DR MANE-Select; ENST00000299847.7; ENSP00000299847.3; NM_139320.2; NP_647536.1.
DR UCSC; uc001zdt.2; human.
DR CTD; 89832; -.
DR DisGeNET; 89832; -.
DR GeneCards; CHRFAM7A; -.
DR HGNC; HGNC:15781; CHRFAM7A.
DR HPA; ENSG00000166664; Tissue enhanced (bone marrow, parathyroid gland).
DR MIM; 609756; gene.
DR neXtProt; NX_Q494W8; -.
DR OpenTargets; ENSG00000166664; -.
DR PharmGKB; PA26483; -.
DR VEuPathDB; HostDB:ENSG00000166664; -.
DR eggNOG; KOG3646; Eukaryota.
DR GeneTree; ENSGT00940000154617; -.
DR HOGENOM; CLU_018074_0_3_1; -.
DR InParanoid; Q494W8; -.
DR OMA; MFNIICT; -.
DR OrthoDB; 845098at2759; -.
DR PhylomeDB; Q494W8; -.
DR TreeFam; TF315605; -.
DR PathwayCommons; Q494W8; -.
DR SignaLink; Q494W8; -.
DR BioGRID-ORCS; 89832; 23 hits in 987 CRISPR screens.
DR ChiTaRS; CHRFAM7A; human.
DR GenomeRNAi; 89832; -.
DR Pharos; Q494W8; Tbio.
DR PRO; PR:Q494W8; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q494W8; protein.
DR Bgee; ENSG00000166664; Expressed in calcaneal tendon and 99 other tissues.
DR ExpressionAtlas; Q494W8; baseline and differential.
DR Genevisible; Q494W8; HS.
DR GO; GO:0005892; C:acetylcholine-gated channel complex; IBA:GO_Central.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0045202; C:synapse; IBA:GO_Central.
DR GO; GO:0042166; F:acetylcholine binding; IBA:GO_Central.
DR GO; GO:0022848; F:acetylcholine-gated cation-selective channel activity; IBA:GO_Central.
DR GO; GO:0005231; F:excitatory extracellular ligand-gated ion channel activity; IBA:GO_Central.
DR GO; GO:0030594; F:neurotransmitter receptor activity; IBA:GO_Central.
DR GO; GO:0004888; F:transmembrane signaling receptor activity; IEA:InterPro.
DR GO; GO:1904315; F:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central.
DR GO; GO:0007268; P:chemical synaptic transmission; IBA:GO_Central.
DR GO; GO:0034220; P:ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0050877; P:nervous system process; IBA:GO_Central.
DR GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR GO; GO:0007271; P:synaptic transmission, cholinergic; IBA:GO_Central.
DR Gene3D; 1.20.58.390; -; 2.
DR Gene3D; 2.70.170.10; -; 1.
DR InterPro; IPR006202; Neur_chan_lig-bd.
DR InterPro; IPR036734; Neur_chan_lig-bd_sf.
DR InterPro; IPR006201; Neur_channel.
DR InterPro; IPR036719; Neuro-gated_channel_TM_sf.
DR InterPro; IPR038050; Neuro_actylchol_rec.
DR InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR PANTHER; PTHR18945; PTHR18945; 1.
DR Pfam; PF02931; Neur_chan_LBD; 1.
DR Pfam; PF02932; Neur_chan_memb; 1.
DR SUPFAM; SSF63712; SSF63712; 1.
DR SUPFAM; SSF90112; SSF90112; 1.
DR TIGRFAMs; TIGR00860; LIC; 1.
DR PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE 1: Evidence at protein level;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..412
FT /note="CHRNA7-FAM7A fusion protein"
FT /id="PRO_0000232101"
FT TRANSMEM 144..164
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 172..192
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 205..225
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 240..254
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 380..400
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 412 AA; 46218 MW; 17D1A33E8540BF44 CRC64;
MQKYCIYQHF QFQLLIQHLW IAANCDIADE RFDATFHTNV LVNSSGHCQY LPPGIFKSSC
YIDVRWFPFD VQHCKLKFGS WSYGGWSLDL QMQEADISGY IPNGEWDLVG IPGKRSERFY
ECCKEPYPDV TFTVTMRRRT LYYGLNLLIP CVLISALALL VFLLPADSGE KISLGITVLL
SLTVFMLLVA EIMPATSDSV PLIAQYFAST MIIVGLSVVV TVIVLQYHHH DPDGGKMPKW
TRVILLNWCA WFLRMKRPGE DKVRPACQHK QRRCSLASVE MSAVAPPPAS NGNLLYIGFR
GLDGVHCVPT PDSGVVCGRM ACSPTHDEHL LHGGQPPEGD PDLAKILEEV RYIANRFRCQ
DESEAVCSEW KFAACVVDRL CLMAFSVFTI ICTIGILMSA PNFVEAVSKD FA