RBCC Red Blood Cell Collection

GTR4_HUMAN

Source: hRBCD ; ID: IPI00027281
PM19886704
BSc_CH
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: SLC2A4 , GLUT4
Protein names and data: GTR4_HUMAN , Solute carrier family 2, facilitated glucose transporter member 4 , Glucose transporter type 4, insulin-responsive; GLUT-4 Lenght: 509 a.a.
Mass: 54787 Da
fasta formatted sequence
Function: Insulin-regulated facilitative glucose transporter.
Disease: ( OMIM: 125853 138190 ) Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Multi-pass membrane protein (By similarity). Endomembrane system; Multi-pass membrane protein. Cytoplasm, perinuclear region. Note=Localizes primarily to the perinuclear region, undergoing continued recycling to the plasma membrane where it is rapidly reinternalized. The dileucine internalization motif is critical for intracellular sequestration.
Tissue specificity: Skeletal and cardiac muscles; brown and white fat.

Genetic variants

55 - 55 S -> R (in dbSNP:rs35198331). VAR_052503 35198331
78 - 78 T -> S (in dbSNP:rs5434). VAR_012060 5434
358 - 358 A -> V (in dbSNP:rs8192702). VAR_020336 8192702
383 - 383 V -> I (in NIDDM; dbSNP:rs121434581). VAR_007170 121434581
385 - 385 I -> T. VAR_007171

Database cross-references

UniProt: P14672
Ensembl: ENST00000317370
MIM: 125853
MIM: 138190
neXtProt: NX_P14672
Antibodypedia: P14672 (may not find the protein thus also not any antibody)
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