位置:首页 > 蛋白库 > SMIM1_HUMAN
SMIM1_HUMAN
ID   SMIM1_HUMAN             Reviewed;          78 AA.
AC   B2RUZ4;
DT   16-DEC-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-JUL-2008, sequence version 1.
DT   03-AUG-2022, entry version 93.
DE   RecName: Full=Small integral membrane protein 1 {ECO:0000303|PubMed:23505126, ECO:0000312|HGNC:HGNC:44204};
DE   AltName: Full=Vel blood group antigen {ECO:0000303|PubMed:23505126};
GN   Name=SMIM1 {ECO:0000303|PubMed:23505126, ECO:0000312|HGNC:HGNC:44204};
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 GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [2]
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   [3]
RP   PROTEIN SEQUENCE OF 1-10 AND 43-52, IDENTIFICATION BY MASS SPECTROMETRY,
RP   POLYMORPHISM, SUBUNIT, AND DISULFIDE BOND.
RX   PubMed=23505126; DOI=10.1002/emmm.201302466;
RA   Ballif B.A., Helias V., Peyrard T., Menanteau C., Saison C., Lucien N.,
RA   Bourgouin S., Le Gall M., Cartron J.P., Arnaud L.;
RT   "Disruption of SMIM1 causes the Vel- blood type.";
RL   EMBO Mol. Med. 5:751-761(2013).
RN   [4]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22 AND SER-27, AND
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [5]
RP   POLYMORPHISM, SUBUNIT, DISULFIDE BOND, TISSUE SPECIFICITY, AND TOPOLOGY.
RX   PubMed=23563606; DOI=10.1038/ng.2600;
RA   Storry J.R., Joud M., Christophersen M.K., Thuresson B., Akerstrom B.,
RA   Sojka B.N., Nilsson B., Olsson M.L.;
RT   "Homozygosity for a null allele of SMIM1 defines the Vel-negative blood
RT   group phenotype.";
RL   Nat. Genet. 45:537-541(2013).
RN   [6]
RP   POLYMORPHISM, VARIANTS LYS-51 AND ARG-51, AND CHARACTERIZATION OF VARIANTS
RP   LYS-51 AND ARG-51.
RX   PubMed=23563608; DOI=10.1038/ng.2603;
RA   Cvejic A., Haer-Wigman L., Stephens J.C., Kostadima M., Smethurst P.A.,
RA   Frontini M., van den Akker E., Bertone P., Bielczyk-Maczynska E.,
RA   Farrow S., Fehrmann R.S., Gray A., de Haas M., Haver V.G., Jordan G.,
RA   Karjalainen J., Kerstens H.H., Kiddle G., Lloyd-Jones H., Needs M.,
RA   Poole J., Soussan A.A., Rendon A., Rieneck K., Sambrook J.G., Schepers H.,
RA   Sillje H.H., Sipos B., Swinkels D., Tamuri A.U., Verweij N., Watkins N.A.,
RA   Westra H.J., Stemple D., Franke L., Soranzo N., Stunnenberg H.G.,
RA   Goldman N., van der Harst P., van der Schoot C.E., Ouwehand W.H.,
RA   Albers C.A.;
RT   "SMIM1 underlies the Vel blood group and influences red blood cell
RT   traits.";
RL   Nat. Genet. 45:542-545(2013).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA   Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT   phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
RN   [8]
RP   PHOSPHORYLATION AT SER-6; SER-17; SER-22 AND SER-27, SUBCELLULAR LOCATION,
RP   TOPOLOGY, MUTAGENESIS OF SER-6; SER-17; SER-22; SER-27; CYS-35; CYS-43 AND
RP   76-LYS--LYS-78, DOMAIN, REGION, ACETYLATION AT MET-1, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY.
RX   PubMed=26452714; DOI=10.1016/j.febslet.2015.09.029;
RA   Arnaud L., Kelley L.P., Helias V., Cartron J.P., Ballif B.A.;
RT   "SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood
RT   group antigen at its carboxyl-terminus.";
RL   FEBS Lett. 589:3624-3630(2015).
CC   -!- FUNCTION: Regulator of red blood cell formation.
CC       {ECO:0000250|UniProtKB:B3DHH5}.
CC   -!- SUBUNIT: Homooligomer; disulfide-linked. {ECO:0000269|PubMed:23505126,
CC       ECO:0000269|PubMed:23563606}.
CC   -!- INTERACTION:
CC       B2RUZ4; Q68DC2: ANKS6; NbExp=3; IntAct=EBI-12188413, EBI-7054139;
CC       B2RUZ4; Q13520: AQP6; NbExp=3; IntAct=EBI-12188413, EBI-13059134;
CC       B2RUZ4; Q8WWH4: ASZ1; NbExp=3; IntAct=EBI-12188413, EBI-12239061;
CC       B2RUZ4; Q9BXK5: BCL2L13; NbExp=3; IntAct=EBI-12188413, EBI-747430;
CC       B2RUZ4; Q13323: BIK; NbExp=3; IntAct=EBI-12188413, EBI-700794;
CC       B2RUZ4; P04233-2: CD74; NbExp=3; IntAct=EBI-12188413, EBI-12222807;
CC       B2RUZ4; Q8N5K1: CISD2; NbExp=3; IntAct=EBI-12188413, EBI-1045797;
CC       B2RUZ4; P21964: COMT; NbExp=3; IntAct=EBI-12188413, EBI-372265;
CC       B2RUZ4; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-12188413, EBI-6942903;
CC       B2RUZ4; P49447: CYB561; NbExp=3; IntAct=EBI-12188413, EBI-8646596;
CC       B2RUZ4; Q15125: EBP; NbExp=3; IntAct=EBI-12188413, EBI-3915253;
CC       B2RUZ4; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-12188413, EBI-781551;
CC       B2RUZ4; Q8TBP5: FAM174A; NbExp=3; IntAct=EBI-12188413, EBI-18636064;
CC       B2RUZ4; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-12188413, EBI-18304435;
CC       B2RUZ4; Q96KR6: FAM210B; NbExp=3; IntAct=EBI-12188413, EBI-18938272;
CC       B2RUZ4; O15552: FFAR2; NbExp=3; IntAct=EBI-12188413, EBI-2833872;
CC       B2RUZ4; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-12188413, EBI-12142257;
CC       B2RUZ4; P48165: GJA8; NbExp=3; IntAct=EBI-12188413, EBI-17458373;
CC       B2RUZ4; O95377: GJB5; NbExp=3; IntAct=EBI-12188413, EBI-3909454;
CC       B2RUZ4; Q6Y1H2: HACD2; NbExp=3; IntAct=EBI-12188413, EBI-530257;
CC       B2RUZ4; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-12188413, EBI-18053395;
CC       B2RUZ4; P32942: ICAM3; NbExp=3; IntAct=EBI-12188413, EBI-725421;
CC       B2RUZ4; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-12188413, EBI-10266796;
CC       B2RUZ4; P43628: KIR2DL3; NbExp=3; IntAct=EBI-12188413, EBI-8632435;
CC       B2RUZ4; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-12188413, EBI-2820517;
CC       B2RUZ4; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-12188413, EBI-2830349;
CC       B2RUZ4; Q9HCJ2: LRRC4C; NbExp=3; IntAct=EBI-12188413, EBI-3925442;
CC       B2RUZ4; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-12188413, EBI-11956541;
CC       B2RUZ4; Q6ZSS7: MFSD6; NbExp=3; IntAct=EBI-12188413, EBI-2858252;
CC       B2RUZ4; P15941-11: MUC1; NbExp=3; IntAct=EBI-12188413, EBI-17263240;
CC       B2RUZ4; Q9Y3Q0: NAALAD2; NbExp=3; IntAct=EBI-12188413, EBI-2863682;
CC       B2RUZ4; Q8N183: NDUFAF2; NbExp=3; IntAct=EBI-12188413, EBI-2682365;
CC       B2RUZ4; P15151: PVR; NbExp=3; IntAct=EBI-12188413, EBI-3919694;
CC       B2RUZ4; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-12188413, EBI-7545592;
CC       B2RUZ4; Q8NC24: RELL2; NbExp=3; IntAct=EBI-12188413, EBI-10269209;
CC       B2RUZ4; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-12188413, EBI-10192441;
CC       B2RUZ4; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-12188413, EBI-3920694;
CC       B2RUZ4; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-12188413, EBI-17247926;
CC       B2RUZ4; A0A0S2Z4U3: SDC3; NbExp=3; IntAct=EBI-12188413, EBI-10204280;
CC       B2RUZ4; Q9Y286: SIGLEC7; NbExp=3; IntAct=EBI-12188413, EBI-2801178;
CC       B2RUZ4; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-12188413, EBI-18159983;
CC       B2RUZ4; P54219-3: SLC18A1; NbExp=3; IntAct=EBI-12188413, EBI-17595455;
CC       B2RUZ4; Q86WA9: SLC26A11; NbExp=3; IntAct=EBI-12188413, EBI-19115335;
CC       B2RUZ4; Q86WV6: STING1; NbExp=3; IntAct=EBI-12188413, EBI-2800345;
CC       B2RUZ4; Q16623: STX1A; NbExp=3; IntAct=EBI-12188413, EBI-712466;
CC       B2RUZ4; Q96DZ7: TM4SF19; NbExp=3; IntAct=EBI-12188413, EBI-6448756;
CC       B2RUZ4; Q6P9G4: TMEM154; NbExp=3; IntAct=EBI-12188413, EBI-13329239;
CC       B2RUZ4; Q96B21: TMEM45B; NbExp=3; IntAct=EBI-12188413, EBI-3923061;
CC       B2RUZ4; Q9NW97: TMEM51; NbExp=3; IntAct=EBI-12188413, EBI-726044;
CC       B2RUZ4; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-12188413, EBI-18178701;
CC       B2RUZ4; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-12188413, EBI-2548832;
CC       B2RUZ4; O15393-2: TMPRSS2; NbExp=3; IntAct=EBI-12188413, EBI-12345267;
CC       B2RUZ4; Q9Y320: TMX2; NbExp=3; IntAct=EBI-12188413, EBI-6447886;
CC       B2RUZ4; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-12188413, EBI-12837904;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26452714};
CC       Single-pass type II membrane protein {ECO:0000269|PubMed:26452714}.
CC   -!- TISSUE SPECIFICITY: Highly expressed in the bone marrow and expressed
CC       at lower levels in non-hematopoietic tissues. Highly expressed in
CC       erythroleukemia cell lines. Up-regulated in CD34+ hematopoietic
CC       progenitors cultured toward red blood cells.
CC       {ECO:0000269|PubMed:23563606}.
CC   -!- DOMAIN: The extracellular domain carries the Vel antigen.
CC       {ECO:0000269|PubMed:26452714}.
CC   -!- POLYMORPHISM: SMIM1 is responsible for the Vel blood group system (VEL)
CC       [MIM:615264]. The Vel antigen is present on red blood cells from all
CC       people except rare Vel-negative individuals who can form antibodies to
CC       Vel in response to transfusion or pregnancy. These antibodies may cause
CC       severe hemolytic reactions in blood recipients. In most cases, Vel-
CC       negative individuals are homozygous for a 17-nucleotide frameshift
CC       deletion in exon 3. In some cases, Vel-negative are heterozygous for
CC       the 17-nucleotide frameshift deletion and a missense variant at
CC       position 51. {ECO:0000269|PubMed:23563608}.
CC   -!- SIMILARITY: Belongs to the SMIM1 family. {ECO:0000305}.
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=Seeing red - Issue 184 of
CC       October 2016;
CC       URL="https://web.expasy.org/spotlight/back_issues/184/";
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AL365330; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC146945; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC146957; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS57966.1; -.
DR   RefSeq; NP_001157196.1; NM_001163724.2.
DR   RefSeq; NP_001275512.1; NM_001288583.1.
DR   AlphaFoldDB; B2RUZ4; -.
DR   SMR; B2RUZ4; -.
DR   BioGRID; 132762; 58.
DR   IntAct; B2RUZ4; 56.
DR   STRING; 9606.ENSP00000457386; -.
DR   TCDB; 1.A.124.1.1; the small mitochondrial integral membrane protein (smim) family.
DR   iPTMnet; B2RUZ4; -.
DR   PhosphoSitePlus; B2RUZ4; -.
DR   SwissPalm; B2RUZ4; -.
DR   BioMuta; SMIM1; -.
DR   EPD; B2RUZ4; -.
DR   jPOST; B2RUZ4; -.
DR   MassIVE; B2RUZ4; -.
DR   PaxDb; B2RUZ4; -.
DR   PeptideAtlas; B2RUZ4; -.
DR   PRIDE; B2RUZ4; -.
DR   TopDownProteomics; B2RUZ4; -.
DR   Antibodypedia; 74931; 36 antibodies from 9 providers.
DR   DNASU; 388588; -.
DR   Ensembl; ENST00000444870.7; ENSP00000457386.1; ENSG00000235169.11.
DR   Ensembl; ENST00000642557.4; ENSP00000496314.2; ENSG00000235169.11.
DR   GeneID; 388588; -.
DR   KEGG; hsa:388588; -.
DR   MANE-Select; ENST00000642557.4; ENSP00000496314.2; NM_001288583.2; NP_001275512.1.
DR   CTD; 388588; -.
DR   DisGeNET; 388588; -.
DR   GeneCards; SMIM1; -.
DR   HGNC; HGNC:44204; SMIM1.
DR   HPA; ENSG00000235169; Tissue enhanced (bone marrow, testis).
DR   MalaCards; SMIM1; -.
DR   MIM; 615242; gene.
DR   MIM; 615264; phenotype.
DR   neXtProt; NX_B2RUZ4; -.
DR   OpenTargets; ENSG00000235169; -.
DR   VEuPathDB; HostDB:ENSG00000235169; -.
DR   eggNOG; ENOG502SASD; Eukaryota.
DR   GeneTree; ENSGT00520000060291; -.
DR   HOGENOM; CLU_2621305_0_0_1; -.
DR   InParanoid; B2RUZ4; -.
DR   OMA; RWENSHP; -.
DR   OrthoDB; 1629265at2759; -.
DR   PhylomeDB; B2RUZ4; -.
DR   PathwayCommons; B2RUZ4; -.
DR   SignaLink; B2RUZ4; -.
DR   BioGRID-ORCS; 388588; 12 hits in 1062 CRISPR screens.
DR   Pharos; B2RUZ4; Tbio.
DR   PRO; PR:B2RUZ4; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; B2RUZ4; protein.
DR   Bgee; ENSG00000235169; Expressed in right testis and 112 other tissues.
DR   ExpressionAtlas; B2RUZ4; baseline and differential.
DR   Genevisible; B2RUZ4; HS.
DR   GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR   GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
DR   InterPro; IPR031744; SMIM1.
DR   PANTHER; PTHR38503; PTHR38503; 1.
DR   Pfam; PF15875; DUF4731; 1.
PE   1: Evidence at protein level;
KW   Acetylation; Blood group antigen; Cell membrane; Direct protein sequencing;
KW   Disulfide bond; Membrane; Phosphoprotein; Reference proteome;
KW   Signal-anchor; Transmembrane; Transmembrane helix.
FT   CHAIN           1..78
FT                   /note="Small integral membrane protein 1"
FT                   /id="PRO_0000356182"
FT   TOPO_DOM        1..46
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   TRANSMEM        47..67
FT                   /note="Helical; Signal-anchor for type II membrane protein"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        68..78
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   REGION          1..20
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          68..78
FT                   /note="Displays the Vel antigen"
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MOD_RES         1
FT                   /note="N-acetylmethionine"
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MOD_RES         6
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MOD_RES         17
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MOD_RES         22
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000269|PubMed:26452714,
FT                   ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:24275569"
FT   MOD_RES         27
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000269|PubMed:26452714,
FT                   ECO:0007744|PubMed:18669648"
FT   VARIANT         51
FT                   /note="M -> K (found in Vel-negative population; unknown
FT                   pathological significance; heterozygous with the 17-
FT                   nucleotide frameshift deletion; dbSNP:rs1182690110)"
FT                   /evidence="ECO:0000269|PubMed:23563608"
FT                   /id="VAR_069360"
FT   VARIANT         51
FT                   /note="M -> R (found in Vel-negative population; unknown
FT                   pathological significance; heterozygous with the 17-
FT                   nucleotide frameshift deletion)"
FT                   /evidence="ECO:0000269|PubMed:23563608"
FT                   /id="VAR_069361"
FT   MUTAGEN         6
FT                   /note="S->A: No effect on cell membrane localization; when
FT                   associated with A-17; A-22 and A-27. No effect on cell
FT                   surface expression of the Vel antigen; when associated with
FT                   A-17; A-22 and A-27."
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MUTAGEN         17
FT                   /note="S->A: No effect on cell membrane localization; when
FT                   associated with A-6; A-22 and A-27. No effect on cell
FT                   surface expression of the Vel antigen; when associated with
FT                   A-6; A-22 and A-27."
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MUTAGEN         22
FT                   /note="S->A: No effect on cell membrane localization; when
FT                   associated with A-6; A-17 and A-27. No effect on cell
FT                   surface expression of the Vel antigen; when associated with
FT                   A-6; A-17 and A-27."
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MUTAGEN         27
FT                   /note="S->A: No effect on cell membrane localization; when
FT                   associated with A-6; A-17 and A-22. No effect on cell
FT                   surface expression of the Vel antigen; when associated with
FT                   A-6; A-17 and A-22."
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MUTAGEN         35
FT                   /note="C->S: No effect on cell surface expression of the
FT                   Vel antigen; when associated with S-43."
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MUTAGEN         43
FT                   /note="C->S: No effect on cell surface expression of the
FT                   Vel antigen; when associated with S-35."
FT                   /evidence="ECO:0000269|PubMed:26452714"
FT   MUTAGEN         76..78
FT                   /note="Missing: Loss of cell-surface expression of the Vel
FT                   antigen."
FT                   /evidence="ECO:0000269|PubMed:26452714"
SQ   SEQUENCE   78 AA;  8749 MW;  72B2879DC4986A82 CRC64;
     MQPQESHVHY SRWEDGSRDG VSLGAVSSTE EASRCRRISQ RLCTGKLGIA MKVLGGVALF
     WIIFILGYLT GYYVHKCK
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024