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TMC6_HUMAN
ID   TMC6_HUMAN              Reviewed;         805 AA.
AC   Q7Z403; O43284; Q45VJ2; Q8IU98; Q8IUI7; Q8IWU8; Q8TEQ7; Q9HAG5;
DT   06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT   06-DEC-2005, sequence version 2.
DT   03-AUG-2022, entry version 151.
DE   RecName: Full=Transmembrane channel-like protein 6;
DE   AltName: Full=Epidermodysplasia verruciformis protein 1;
DE   AltName: Full=Protein LAK-4;
GN   Name=TMC6; Synonyms=EVER1, EVIN1;
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 [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION,
RP   INVOLVEMENT IN EV1, AND VARIANT ARG-125.
RX   PubMed=12426567; DOI=10.1038/ng1044;
RA   Ramoz N., Rueda L.-A., Bouadjar B., Montoya L.-S., Orth G., Favre M.;
RT   "Mutations in two adjacent novel genes are associated with
RT   epidermodysplasia verruciformis.";
RL   Nat. Genet. 32:579-581(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX   PubMed=12906855; DOI=10.1016/s0888-7543(03)00154-x;
RA   Kurima K., Yang Y., Sorber K., Griffith A.J.;
RT   "Characterization of the transmembrane channel-like (TMC) gene family:
RT   functional clues from hearing loss and epidermodysplasia verruciformis.";
RL   Genomics 82:300-308(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND TISSUE SPECIFICITY.
RA   Lin L., Nong W., Zhou G., Ke R., Shen C., Zhong G., Zheng Z., Liang M.,
RA   Wen S., Li H., Yang S.;
RL   Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
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   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Spleen;
RA   Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.;
RT   "The nucleotide sequence of a long cDNA clone isolated from human spleen.";
RL   Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT PHE-153.
RC   TISSUE=B-cell, and Brain;
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   [7]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 345-805.
RC   TISSUE=Lymphoid tissue;
RA   Abe Y., Takaoka Y.;
RT   "LAK-4 clone from the membrane lymphotoxin expressing subtraction
RT   library.";
RL   Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
RN   [8]
RP   INVOLVEMENT IN EV1.
RX   PubMed=15042430; DOI=10.1007/s10038-004-0135-6;
RA   Tate G., Suzuki T., Kishimoto K., Mitsuya T.;
RT   "Novel mutations of EVER1/TMC6 gene in a Japanese patient with
RT   epidermodysplasia verruciformis.";
RL   J. Hum. Genet. 49:223-225(2004).
RN   [9]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-89 AND THR-105, AND
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
RN   [10]
RP   METHYLATION [LARGE SCALE ANALYSIS] AT ARG-94, AND IDENTIFICATION BY MASS
RP   SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Colon carcinoma;
RX   PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA   Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA   Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA   Bedford M.T., Comb M.J.;
RT   "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT   methylation.";
RL   Mol. Cell. Proteomics 13:372-387(2014).
RN   [11]
RP   INTERACTION WITH CIB1.
RX   PubMed=30068544; DOI=10.1084/jem.20170308;
RA   de Jong S.J., Crequer A., Matos I., Hum D., Gunasekharan V., Lorenzo L.,
RA   Jabot-Hanin F., Imahorn E., Arias A.A., Vahidnezhad H., Youssefian L.,
RA   Markle J.G., Patin E., D'Amico A., Wang C.Q.F., Full F., Ensser A.,
RA   Leisner T.M., Parise L.V., Bouaziz M., Maya N.P., Cadena X.R., Saka B.,
RA   Saeidian A.H., Aghazadeh N., Zeinali S., Itin P., Krueger J.G., Laimins L.,
RA   Abel L., Fuchs E., Uitto J., Franco J.L., Burger B., Orth G., Jouanguy E.,
RA   Casanova J.L.;
RT   "The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity
RT   to beta-papillomaviruses.";
RL   J. Exp. Med. 215:2289-2310(2018).
CC   -!- FUNCTION: Probable ion channel. {ECO:0000250}.
CC   -!- SUBUNIT: Interacts with CIB1. {ECO:0000269|PubMed:30068544}.
CC   -!- INTERACTION:
CC       Q7Z403; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-9088037, EBI-1055254;
CC       Q7Z403; P16284: PECAM1; NbExp=3; IntAct=EBI-9088037, EBI-716404;
CC       Q7Z403; P08670: VIM; NbExp=3; IntAct=EBI-9088037, EBI-353844;
CC       Q7Z403; Q8N680: ZBTB2; NbExp=3; IntAct=EBI-9088037, EBI-2515601;
CC   -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC       {ECO:0000269|PubMed:12426567}; Multi-pass membrane protein
CC       {ECO:0000269|PubMed:12426567}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1; Synonyms=Large EVER1;
CC         IsoId=Q7Z403-1; Sequence=Displayed;
CC       Name=2; Synonyms=Small EVER1;
CC         IsoId=Q7Z403-2; Sequence=VSP_016439;
CC       Name=3;
CC         IsoId=Q7Z403-3; Sequence=VSP_016437, VSP_016440;
CC       Name=4;
CC         IsoId=Q7Z403-4; Sequence=VSP_016438, VSP_016441, VSP_016442;
CC   -!- TISSUE SPECIFICITY: Expressed in placenta, prostate, testis, activated
CC       T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes.
CC       {ECO:0000269|PubMed:12906855, ECO:0000269|Ref.3}.
CC   -!- DISEASE: Epidermodysplasia verruciformis 1 (EV1) [MIM:226400]: A form
CC       of epidermodysplasia verruciformis, a rare genodermatosis associated
CC       with a high risk of skin carcinoma that results from an abnormal
CC       susceptibility to infection by specific human papillomaviruses,
CC       including the oncogenic HPV5. Infection leads to the early development
CC       of disseminated flat wart-like and pityriasis versicolor-like skin
CC       lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous
CC       cell carcinomas develop in about half of the patients, mainly on sun-
CC       exposed skin areas. EV1 inheritance is autosomal recessive.
CC       {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:15042430}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the TMC family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH35648.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=BAA24179.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=BAB84891.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=TMC6base; Note=TMC6 mutation db;
CC       URL="http://structure.bmc.lu.se/idbase/TMC6base/";
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DR   EMBL; AY057379; AAL25836.1; -; mRNA.
DR   EMBL; AY099356; AAM44452.1; -; mRNA.
DR   EMBL; AY099357; AAM44453.1; -; mRNA.
DR   EMBL; AY236496; AAP69874.1; -; mRNA.
DR   EMBL; DQ104440; AAZ20186.1; -; mRNA.
DR   EMBL; AK021738; BAB13884.1; -; mRNA.
DR   EMBL; AK074065; BAB84891.1; ALT_INIT; mRNA.
DR   EMBL; BC023597; AAH23597.1; -; mRNA.
DR   EMBL; BC035648; AAH35648.1; ALT_INIT; mRNA.
DR   EMBL; AB002405; BAA24179.2; ALT_INIT; mRNA.
DR   CCDS; CCDS32748.1; -. [Q7Z403-1]
DR   RefSeq; NP_001120670.1; NM_001127198.2. [Q7Z403-1]
DR   RefSeq; NP_001308114.1; NM_001321185.1. [Q7Z403-1]
DR   RefSeq; NP_009198.4; NM_007267.7. [Q7Z403-1]
DR   RefSeq; XP_005257052.1; XM_005256995.1.
DR   RefSeq; XP_011522557.1; XM_011524255.1. [Q7Z403-1]
DR   AlphaFoldDB; Q7Z403; -.
DR   BioGRID; 116453; 37.
DR   IntAct; Q7Z403; 10.
DR   MINT; Q7Z403; -.
DR   STRING; 9606.ENSP00000465261; -.
DR   TCDB; 1.A.17.4.10; the calcium-dependent chloride channel (ca-clc) family.
DR   GlyGen; Q7Z403; 2 sites.
DR   iPTMnet; Q7Z403; -.
DR   PhosphoSitePlus; Q7Z403; -.
DR   SwissPalm; Q7Z403; -.
DR   BioMuta; TMC6; -.
DR   DMDM; 83305925; -.
DR   EPD; Q7Z403; -.
DR   jPOST; Q7Z403; -.
DR   MassIVE; Q7Z403; -.
DR   MaxQB; Q7Z403; -.
DR   PaxDb; Q7Z403; -.
DR   PeptideAtlas; Q7Z403; -.
DR   PRIDE; Q7Z403; -.
DR   ProteomicsDB; 69106; -. [Q7Z403-1]
DR   ProteomicsDB; 69107; -. [Q7Z403-2]
DR   ProteomicsDB; 69108; -. [Q7Z403-3]
DR   ProteomicsDB; 69109; -. [Q7Z403-4]
DR   Antibodypedia; 32516; 138 antibodies from 23 providers.
DR   DNASU; 11322; -.
DR   Ensembl; ENST00000306591.11; ENSP00000306405.6; ENSG00000141524.17. [Q7Z403-2]
DR   Ensembl; ENST00000322914.7; ENSP00000313408.2; ENSG00000141524.17. [Q7Z403-1]
DR   Ensembl; ENST00000392467.7; ENSP00000376260.2; ENSG00000141524.17. [Q7Z403-1]
DR   Ensembl; ENST00000589553.5; ENSP00000465359.1; ENSG00000141524.17. [Q7Z403-4]
DR   Ensembl; ENST00000590602.6; ENSP00000465261.1; ENSG00000141524.17. [Q7Z403-1]
DR   Ensembl; ENST00000591436.5; ENSP00000464853.1; ENSG00000141524.17. [Q7Z403-3]
DR   GeneID; 11322; -.
DR   KEGG; hsa:11322; -.
DR   MANE-Select; ENST00000590602.6; ENSP00000465261.1; NM_001127198.5; NP_001120670.1.
DR   UCSC; uc002jui.2; human. [Q7Z403-1]
DR   CTD; 11322; -.
DR   DisGeNET; 11322; -.
DR   GeneCards; TMC6; -.
DR   HGNC; HGNC:18021; TMC6.
DR   HPA; ENSG00000141524; Tissue enhanced (lymphoid).
DR   MalaCards; TMC6; -.
DR   MIM; 226400; phenotype.
DR   MIM; 605828; gene.
DR   neXtProt; NX_Q7Z403; -.
DR   OpenTargets; ENSG00000141524; -.
DR   Orphanet; 302; Epidermodysplasia verruciformis.
DR   PharmGKB; PA134949466; -.
DR   VEuPathDB; HostDB:ENSG00000141524; -.
DR   eggNOG; KOG1039; Eukaryota.
DR   GeneTree; ENSGT01050000244894; -.
DR   HOGENOM; CLU_606852_0_0_1; -.
DR   InParanoid; Q7Z403; -.
DR   OMA; MWSIKPS; -.
DR   PhylomeDB; Q7Z403; -.
DR   PathwayCommons; Q7Z403; -.
DR   Reactome; R-HSA-6798695; Neutrophil degranulation.
DR   SignaLink; Q7Z403; -.
DR   BioGRID-ORCS; 11322; 14 hits in 1074 CRISPR screens.
DR   ChiTaRS; TMC6; human.
DR   GeneWiki; TMC6; -.
DR   GenomeRNAi; 11322; -.
DR   Pharos; Q7Z403; Tbio.
DR   PRO; PR:Q7Z403; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; Q7Z403; protein.
DR   Bgee; ENSG00000141524; Expressed in granulocyte and 188 other tissues.
DR   ExpressionAtlas; Q7Z403; baseline and differential.
DR   Genevisible; Q7Z403; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR   GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR   GO; GO:0005887; C:integral component of plasma membrane; IEA:InterPro.
DR   GO; GO:0031965; C:nuclear membrane; IDA:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0035579; C:specific granule membrane; TAS:Reactome.
DR   GO; GO:0070821; C:tertiary granule membrane; TAS:Reactome.
DR   GO; GO:0008381; F:mechanosensitive ion channel activity; IBA:GO_Central.
DR   InterPro; IPR038900; TMC.
DR   InterPro; IPR012496; TMC_dom.
DR   PANTHER; PTHR23302; PTHR23302; 1.
DR   Pfam; PF07810; TMC; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Endoplasmic reticulum; Glycoprotein; Ion channel;
KW   Ion transport; Membrane; Methylation; Phosphoprotein; Reference proteome;
KW   Transmembrane; Transmembrane helix; Transport.
FT   CHAIN           1..805
FT                   /note="Transmembrane channel-like protein 6"
FT                   /id="PRO_0000185384"
FT   TOPO_DOM        1..209
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        210..230
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        231..249
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        250..270
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        271..338
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        339..359
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        360..431
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        432..452
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        453..469
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        470..490
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        491..505
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        506..526
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        527..553
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        554..574
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        575..604
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        605..625
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        626..650
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        651..671
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        672..722
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        723..743
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        744..805
FT                   /note="Lumenal"
FT                   /evidence="ECO:0000255"
FT   REGION          1..29
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          778..805
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         89
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         94
FT                   /note="Omega-N-methylarginine"
FT                   /evidence="ECO:0007744|PubMed:24129315"
FT   MOD_RES         105
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   CARBOHYD        103
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        312
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..361
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|Ref.3"
FT                   /id="VSP_016437"
FT   VAR_SEQ         1..227
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_016438"
FT   VAR_SEQ         410..760
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:12426567"
FT                   /id="VSP_016439"
FT   VAR_SEQ         512..571
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|Ref.3"
FT                   /id="VSP_016440"
FT   VAR_SEQ         513..525
FT                   /note="NLILKLAILGTLC -> CVAAHENIIWCWS (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_016441"
FT   VAR_SEQ         526..805
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_016442"
FT   VARIANT         125
FT                   /note="W -> R (in dbSNP:rs2748427)"
FT                   /evidence="ECO:0000269|PubMed:12426567"
FT                   /id="VAR_023963"
FT   VARIANT         153
FT                   /note="L -> F (in dbSNP:rs12449858)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_052336"
FT   VARIANT         191
FT                   /note="G -> D (in dbSNP:rs34712518)"
FT                   /id="VAR_061851"
FT   CONFLICT        266
FT                   /note="L -> P (in Ref. 2; AAP69874)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        274..277
FT                   /note="QVAF -> PRVR (in Ref. 6; AAH35648)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        556
FT                   /note="D -> G (in Ref. 2; AAP69874)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   805 AA;  90045 MW;  9A9A5C43FBA86AD4 CRC64;
     MAQPLAFILD VPETPGDQGQ GPSPYDESEV HDSFQQLIQE QSQCTAQEGL ELQQREREVT
     GSSQQTLWRP EGTQSTATLR ILASMPSRTI GRSRGAIISQ YYNRTVQLRC RSSRPLLGNF
     VRSAWPSLRL YDLELDPTAL EEEEKQSLLV KELQSLAVAQ RDHMLRGMPL SLAEKRSLRE
     KSRTPRGKWR GQPGSGGVCS CCGRLRYACV LALHSLGLAL LSALQALMPW RYALKRIGGQ
     FGSSVLSYFL FLKTLLAFNA LLLLLLVAFI MGPQVAFPPA LPGPAPVCTG LELLTGAGCF
     THTVMYYGHY SNATLNQPCG SPLDGSQCTP RVGGLPYNMP LAYLSTVGVS FFITCITLVY
     SMAHSFGESY RVGSTSGIHA ITVFCSWDYK VTQKRASRLQ QDNIRTRLKE LLAEWQLRHS
     PRSVCGRLRQ AAVLGLVWLL CLGTALGCAV AVHVFSEFMI QSPEAAGQEA VLLVLPLVVG
     LLNLGAPYLC RVLAALEPHD SPVLEVYVAI CRNLILKLAI LGTLCYHWLG RRVGVLQGQC
     WEDFVGQELY RFLVMDFVLM LLDTLFGELV WRIISEKKLK RRRKPEFDIA RNVLELIYGQ
     TLTWLGVLFS PLLPAVQIIK LLLVFYVKKT SLLANCQAPR RPWLASHMST VFLTLLCFPA
     FLGAAVFLCY AVWQVKPSST CGPFRTLDTM YEAGRVWVRH LEAAGPRVSW LPWVHRYLME
     NTFFVFLVSA LLLAVIYLNI QVVRGQRKVI CLLKEQISNE GEDKIFLINK LHSIYERKER
     EERSRVGTTE EAAAPPALLT DEQDA
 
 
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