SMIM1_DANRE
ID SMIM1_DANRE Reviewed; 72 AA.
AC B3DHH5;
DT 16-DEC-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 50.
DE RecName: Full=Small integral membrane protein 1;
GN Name=smim1; ORFNames=zgc:194254;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
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).
CC -!- FUNCTION: Regulator of red blood cells formation.
CC {ECO:0000269|PubMed:23563608}.
CC -!- SUBUNIT: Homooligomer; disulfide-linked.
CC {ECO:0000250|UniProtKB:B2RUZ4}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:B2RUZ4};
CC Single-pass type II membrane protein {ECO:0000250|UniProtKB:B2RUZ4}.
CC -!- DISRUPTION PHENOTYPE: Mild reduction in the number of red blood cells.
CC {ECO:0000269|PubMed:23563608}.
CC -!- SIMILARITY: Belongs to the SMIM1 family. {ECO:0000305}.
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DR EMBL; BC162766; AAI62766.1; -; mRNA.
DR AlphaFoldDB; B3DHH5; -.
DR SMR; B3DHH5; -.
DR ZFIN; ZDB-GENE-081022-87; smim1.
DR InParanoid; B3DHH5; -.
DR PhylomeDB; B3DHH5; -.
DR PRO; PR:B3DHH5; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031226; C:intrinsic component of plasma membrane; ISS:ZFIN.
DR GO; GO:0048823; P:nucleate erythrocyte development; IMP:ZFIN.
DR InterPro; IPR031744; SMIM1.
DR PANTHER; PTHR38503; PTHR38503; 1.
DR Pfam; PF15875; DUF4731; 1.
PE 3: Inferred from homology;
KW Cell membrane; Disulfide bond; Membrane; Reference proteome; Signal-anchor;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..72
FT /note="Small integral membrane protein 1"
FT /id="PRO_0000356184"
FT TOPO_DOM 1..40
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 41..61
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 62..72
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
SQ SEQUENCE 72 AA; 8196 MW; F0B83E649D0A836E CRC64;
MESNGASVQY NRWSEDNITL QEPQSRSRLL GIYNRVFTGR LVIMFKIAAS LTVMVVMYIA
GYITGFYVHQ CG