Alternative Name(s):

ATP6M8-9 ;V-ATPase M8.9 subunit

Species: (Organism)

Homo sapiens (Human)

Gene Names:

ATP6AP2

Tag info:

N-terminal 6xHis-SUMO-tagged

Target Protein AA Sequence:

NEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKEDLSWPGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEETPVVLQLAPSEERVYMVGKANSVFEDLSVTLRQLRNRLFQENSVLSSLPLNSLSRNNEVDLLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDASKILVDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYNFEYSVVFNMVLWIMIALALAVIITSYNIWNMDPGYDSIIYRMTNQKIRMD

Expression Region:

17-350aa

Subcellular Location:

Membrane, Single-pass type I membrane protein

Tissue Specificity:

Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta.

Protein Length:

Full Length of Mature Protein

Pathway:

Renin-angiotensinsystem

Mol. Weight:

53.5 kDa

Purity:

Greater than 90% as determined by SDS-PAGE.

Form:

Liquid or Lyophilized powder

Buffer:

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Research Areas:

Signal Transduction

Function:

Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS).

Involvement in disease:

Mental retardation, X-linked, with epilepsy (MRXE); Parkinsonism with spasticity, X-linked (XPDS)

Relevance:

Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin syst (RAS).

Reconstitution:

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Protein Families:

Reference:

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).Korvatska O., Strand N.S., Berndt J.D., Strovas T., Chen D.H., Leverenz J.B., Kiianitsa K., Mata I.F., Karakoc E., Greenup J.L., Bonkowski E., Chuang J., Moon R.T., Eichler E.E., Nickerson D.A., Zabetian C.P., Kraemer B.C., Bird T.D., Raskind W.H.Hum. Mol. Genet. 22:3259-3268(2013)