NTAL_HUMAN » Linker for activation of T-cells family member 2

NTAL_HUMAN » Linker for activation of T-cells family member 2
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
NTAL_HUMAN » Linker for activation of T-cells family member 2 » Linker for activation of B-cells;Membrane-associated adapter molecule;Non-T-cell activation linker;Williams-Beuren syndrome chromosomal region 15 protein;Williams-Beuren syndrome chromosomal region 5 protein;
Hydrophobic Thickness 33.2 ± 2.6 Å
Tilt Angle 3 ± 1°
ΔGtransfer -18.2 kcal/mol
ΔGfold -10.8 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 6-28 (4-30)
Pathways none
PDB 3maz (B=133-141)
OPM none
Complexes none
Interactions

LST1, Complex: LST1:NTAL:CD81:CD9, PubMed

Domains

AA: 28-155, Linker for activation of T-cells family member 2

AA: 178-238, Linker for activation of T-cells family member 2

UniProt annotation for NTAL_HUMAN » Linker for activation of T-cells family member 2
FUNCTION: Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2.

SUBUNIT: When phosphorylated, interacts with GRB2. May also interact with SOS1, GAB1 and CBL.

TISSUE SPECIFICITY: Highly expressed in spleen, peripheral blood lymphocytes, and germinal centers of lymph nodes. Also expressed in placenta, lung, pancreas and small intestine. Present in B- cells, NK cells and monocytes. Absent from T-cells (at protein level).

DISEASE: Note=LAT2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of LAT2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

UniProt features for NTAL_HUMAN » Linker for activation of T-cells family member 2
CHAIN 1 243 Linker for activation of T-cells family member 2.
Amino Acid Sequence for NTAL_HUMAN » Linker for activation of T-cells family member 2
MSSGTELLWP GAALLVLLGV AASLCVRCSR PGAKRSEKIY QQRSLREDQQ SFTGSRTYSL VGQAWPGPLA DMAPTRKDKL LQFYPSLEDP ASSRYQNFSK GSRHGSEEAY IDPIAMEYYN WGRFSKPPED DDANSYENVL ICKQKTTETG AQQEGIGGLC RGDLSLSLAL KTGPTSGLCP SASPEEDEES EDYQNSASIH QWRESRKVMG QLQREASPGP VGSPDEEDGE PDYVNGEVAA TEA