SMIM1
entrez
388588
canonical
uniprot
B2RUZ4
canonical
ensembl
ENSG00000235169
resolver
ensp
ENSP00000457386
resolver
ensp
ENSP00000496314
resolver
ensp
ENSP00000534026
resolver
ensp
ENSP00000534027
resolver
ensp
ENSP00000534028
resolver
ensp
ENSP00000534029
resolver
ensp
ENSP00000534030
resolver
ensp
ENSP00000636485
resolver
ensp
ENSP00000636486
resolver
enst
ENST00000444870
resolver
enst
ENST00000642557
resolver
enst
ENST00000863967
resolver
enst
ENST00000863968
resolver
enst
ENST00000863969
resolver
enst
ENST00000863970
resolver
enst
ENST00000863971
resolver
enst
ENST00000966426
resolver
enst
ENST00000966427
resolver
genesymbol
SMIM1
resolver
hgnc
HGNC:44204
resolver
uniprot
M4WDD3
resolver
uniprot_entry
M4WDD3_HUMAN
resolver
uniprot_entry
SMIM1_HUMAN
resolver
amino_acid_sequence
MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCTGKLGIAMKVLGGVALFWIIFILGYLTGYYVHKCK
uniprot
proteins
function
FUNCTION: Regulator of red blood cell formation. {ECO:0000250|UniProtKB:B3DHH5}.
uniprot
proteins
mass_dalton
8749
uniprot
proteins
mutagenesis
MUTAGEN 6; /note="S->A: No effect on cell membrane localization; when associated with A-17; A-22 and A-27. No effect on cell surface expression of the Vel antigen; when associated with A-17; A-22 and A-27."; /evidence="ECO:0000269|PubMed:26452714"; MUTAGEN 17; /note="S->A: No effect on cell membrane localization; when associated with A-6; A-22 and A-27. No effect on cell surface expression of the Vel antigen; when associated with A-6; A-22 and A-27."; /evidence="ECO:0000269|PubMed:26452714"; MUTAGEN 22; /note="S->A: No effect on cell membrane localization; when associated with A-6; A-17 and A-27. No effect on cell surface expression of the Vel antigen; when associated with A-6; A-17 and A-27."; /evidence="ECO:0000269|PubMed:26452714"; MUTAGEN 27; /note="S->A: No effect on cell membrane localization; when associated with A-6; A-17 and A-22. No effect on cell surface expression of the Vel antigen; when associated with A-6; A-17 and A-22."; /evidence="ECO:0000269|PubMed:26452714"; MUTAGEN 35; /note="C->S: No effect on cell surface expression of the Vel antigen; when associated with S-43."; /evidence="ECO:0000269|PubMed:26452714"; MUTAGEN 43; /note="C->S: No effect on cell surface expression of the Vel antigen; when associated with S-35."; /evidence="ECO:0000269|PubMed:26452714"; MUTAGEN 76..78; /note="Missing: Loss of cell-surface expression of the Vel antigen."; /evidence="ECO:0000269|PubMed:26452714
uniprot
proteins
protein_family
SMIM1 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23505126
uniprot
proteins
pubmed
23563606
uniprot
proteins
pubmed
23563608
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26452714
uniprot
proteins
sequence_length
78
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26452714}; Single-pass type II membrane protein {ECO:0000269|PubMed:26452714}.
uniprot
proteins
transmembrane_region
TRANSMEM 47..67; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins