| Gene Symbol |
TBC1D4
|
| Entrez Gene |
9882
|
| Alt Symbol |
AS160, NIDDM5
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
TBC1 domain family, member 4
|
| Other Description |
Acrg embryonic lethality minimal region ortholog|TBC (Tre-2, BUB2, CDC16) domain-containing protein|TBC1 domain family member 4|akt substrate of 160 kDa
|
| Swissprots |
A7E2X8 B6ETN8 B6ETN9 Q68D14 O60343 Q5W0B9 B4DU25 B4E235
|
| Accessions |
EAW80536 EAW80537 EAW80538 O60343 AB011175 BAA25529 AB449885 BAH16628 AK300468 BAG62187 AK304091 BAG64997 AK307493 AY211910 BC146300 AAI46301 BC151239 AAI51240 CA448893 CR749622 CAH18416 FM207106 CAR62509 FM207107 CAR62510 XM_005266603 XP_005266660 XM_005266605 XP_005266662 XM_006719903 XP_006719966 XM_011535331 XP_011533633 NM_001286658 NP_001273587 NM_001286659 NP_001273588 NM_014832 NP_055647
|
| Function |
May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake. {ECO:0000269|PubMed:15971998, ECO:0000269|PubMed:18771725, ECO:0000269|PubMed:22908308}.
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:18771725}. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line in resting and insulin-stimulated cells.
|
| Tissue Specificity |
Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is strongly expressed in adrenal and thyroid gland, and also in lung, kidney, colon, brain and adipose tissue. Isoform 2 is moderately expressed in skeletal muscle. Expressed in pancreatic Langerhans islets, including beta cells (at protein level). Expression is decreased by twofold in pancreatic islets in type 2 diabetes patients compared to control subjects. Up-regulated in T-cells from patients with atopic dermatitis. {ECO:0000269|PubMed:15304337, ECO:0000269|PubMed:18276765, ECO:0000269|PubMed:18771725}.
|
