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Protein

Linker for activation of T-cells family member 2

Gene

LAT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 GRB2.3 Publications

GO - Molecular functioni

  • SH2 domain binding Source: HGNC

GO - Biological processi

  • adaptive immune response Source: UniProtKB-KW
  • B cell activation Source: HGNC
  • B cell receptor signaling pathway Source: HGNC
  • calcium-mediated signaling Source: HGNC
  • Fc-epsilon receptor signaling pathway Source: Reactome
  • intracellular signal transduction Source: HGNC
  • mast cell degranulation Source: UniProtKB-KW

Keywordsi

Biological processAdaptive immunity, Immunity, Mast cell degranulation

Enzyme and pathway databases

ReactomeiR-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilization
SignaLinkiQ9GZY6

Names & Taxonomyi

Protein namesi
Recommended name:
Linker for activation of T-cells family member 2
Alternative name(s):
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
Gene namesi
Name:LAT2
Synonyms:LAB, NTAL, WBS15, WBSCR15, WBSCR5
ORF Names:HSPC046
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000086730.16
HGNCiHGNC:12749 LAT2
MIMi605719 gene
neXtProtiNX_Q9GZY6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 5ExtracellularSequence analysis5
Transmembranei6 – 26Helical; Signal-anchor for type III membrane proteinSequence analysisAdd BLAST21
Topological domaini27 – 243CytoplasmicSequence analysisAdd BLAST217

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.3 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi58Y → F: No change in phosphorylation upon BCR activation. 1 Publication1
Mutagenesisi84Y → F: No change in phosphorylation upon BCR activation. 1 Publication1
Mutagenesisi95Y → F: Slightly reduces phosphorylation upon BCR activation. 1 Publication1
Mutagenesisi110Y → F: No change in phosphorylation upon BCR activation. 1 Publication1
Mutagenesisi118Y → F: No change in phosphorylation upon BCR activation. 1 Publication1
Mutagenesisi136Y → F: Slightly reduces phosphorylation upon BCR activation. 1 Publication1
Mutagenesisi193Y → F: Reduces phosphorylation upon BCR activation. 1 Publication1
Mutagenesisi233Y → F: Strongly reduces phosphorylation upon BCR activation. 1 Publication1

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi7462
OpenTargetsiENSG00000086730
PharmGKBiPA37356

Polymorphism and mutation databases

BioMutaiLAT2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000833341 – 243Linker for activation of T-cells family member 2Add BLAST243

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi25S-palmitoyl cysteine1 Publication1
Lipidationi28S-palmitoyl cysteine1 Publication1
Modified residuei44PhosphoserineCombined sources1
Modified residuei58PhosphotyrosineBy similarity1
Modified residuei59PhosphoserineBy similarity1
Modified residuei92PhosphoserineBy similarity1
Modified residuei136Phosphotyrosine2 Publications1
Modified residuei193Phosphotyrosine2 Publications1
Modified residuei233Phosphotyrosine2 Publications1

Post-translational modificationi

Phosphorylated on tyrosines following cross-linking of BCR in B-cells, FCGR1 in myeloid cells, or FCER1 in mast cells; which induces the recruitment of GRB2.3 Publications
May be polyubiquitinated.1 Publication

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9GZY6
MaxQBiQ9GZY6
PaxDbiQ9GZY6
PeptideAtlasiQ9GZY6
PRIDEiQ9GZY6
ProteomicsDBi80174
80175 [Q9GZY6-2]

PTM databases

iPTMnetiQ9GZY6
PhosphoSitePlusiQ9GZY6
SwissPalmiQ9GZY6

Expressioni

Tissue specificityi

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).4 Publications

Gene expression databases

BgeeiENSG00000086730 Expressed in 190 organ(s), highest expression level in blood
CleanExiHS_LAT2
ExpressionAtlasiQ9GZY6 baseline and differential
GenevisibleiQ9GZY6 HS

Organism-specific databases

HPAiHPA003462

Interactioni

Subunit structurei

When phosphorylated, interacts with GRB2. May also interact with SOS1, GAB1 and CBL.3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113301, 4 interactors
IntActiQ9GZY6, 1 interactor
STRINGi9606.ENSP00000275635

Structurei

3D structure databases

ProteinModelPortaliQ9GZY6
SMRiQ9GZY6
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9GZY6

Family & Domainsi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IZVX Eukaryota
ENOG4111816 LUCA
GeneTreeiENSGT00390000006821
HOVERGENiHBG082063
InParanoidiQ9GZY6
OMAiEDQQSFT
OrthoDBiEOG091G0M21
PhylomeDBiQ9GZY6
TreeFamiTF336203

Family and domain databases

InterProiView protein in InterPro
IPR031428 LAT2
PANTHERiPTHR15646 PTHR15646, 1 hit
PfamiView protein in Pfam
PF15703 LAT2, 2 hits
ProDomiView protein in ProDom or Entries sharing at least one domain
PD332876 PD332876, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9GZY6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSSGTELLWP GAALLVLLGV AASLCVRCSR PGAKRSEKIY QQRSLREDQQ
60 70 80 90 100
SFTGSRTYSL VGQAWPGPLA DMAPTRKDKL LQFYPSLEDP ASSRYQNFSK
110 120 130 140 150
GSRHGSEEAY IDPIAMEYYN WGRFSKPPED DDANSYENVL ICKQKTTETG
160 170 180 190 200
AQQEGIGGLC RGDLSLSLAL KTGPTSGLCP SASPEEDEES EDYQNSASIH
210 220 230 240
QWRESRKVMG QLQREASPGP VGSPDEEDGE PDYVNGEVAA TEA
Length:243
Mass (Da):26,550
Last modified:March 1, 2001 - v1
Checksum:i222D2CCF3C71C503
GO
Isoform 2 (identifier: Q9GZY6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     112-243: Missing.

Note: No experimental confirmation available.
Show »
Length:111
Mass (Da):12,255
Checksum:i09540AE67B44F485
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JA24C9JA24_HUMAN
Linker for activation of T-cells fa...
LAT2
100Annotation score:
C9JXP0C9JXP0_HUMAN
Linker for activation of T-cells fa...
LAT2
100Annotation score:
C9JDY7C9JDY7_HUMAN
Linker for activation of T-cells fa...
LAT2
58Annotation score:
F8W947F8W947_HUMAN
Linker for activation of T-cells fa...
LAT2
63Annotation score:

Sequence cautioni

The sequence AAF29018 differs from that shown. Reason: Frameshift at positions 82, 86, 130 and 221.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39I → M in BAF82763 (PubMed:14702039).Curated1
Sequence conflicti82Q → A in AAF29018 (PubMed:11042152).Curated1
Sequence conflicti101G → R in AAF29018 (PubMed:11042152).Curated1
Sequence conflicti221V → M in AAF29018 (PubMed:11042152).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016643112 – 243Missing in isoform 2. 1 PublicationAdd BLAST132

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257135 mRNA Translation: AAF91352.1
AF045555 Genomic DNA Translation: AAF74978.1
AY190023 mRNA Translation: AAO63155.1
AF252611 mRNA Translation: AAK37429.1
AF252612 mRNA Translation: AAK37430.1
AF252613 mRNA Translation: AAK37633.1
AF252614 mRNA Translation: AAK37431.1
AF161531 mRNA Translation: AAF29018.1 Frameshift.
AK002099 mRNA Translation: BAA92084.1
AK092904 mRNA Translation: BAG52627.1
AK290074 mRNA Translation: BAF82763.1
AK290916 mRNA Translation: BAF83605.1
AC005081 Genomic DNA Translation: AAS07404.1
AC005081 Genomic DNA Translation: AAS07405.1
CH471200 Genomic DNA Translation: EAW69610.1
CH471200 Genomic DNA Translation: EAW69611.1
CH471200 Genomic DNA Translation: EAW69612.1
CH471200 Genomic DNA Translation: EAW69613.1
BC001609 mRNA Translation: AAH01609.1
BC009204 mRNA Translation: AAH09204.1
CCDSiCCDS5566.2 [Q9GZY6-1]
RefSeqiNP_054865.2, NM_014146.3 [Q9GZY6-1]
NP_115852.1, NM_032463.2 [Q9GZY6-1]
NP_115853.2, NM_032464.2 [Q9GZY6-1]
XP_011514860.1, XM_011516558.2 [Q9GZY6-1]
UniGeneiHs.741249

Genome annotation databases

EnsembliENST00000275635; ENSP00000275635; ENSG00000086730 [Q9GZY6-1]
ENST00000344995; ENSP00000344881; ENSG00000086730 [Q9GZY6-1]
ENST00000398475; ENSP00000381492; ENSG00000086730 [Q9GZY6-1]
ENST00000460943; ENSP00000420494; ENSG00000086730 [Q9GZY6-1]
ENST00000488266; ENSP00000433807; ENSG00000086730 [Q9GZY6-2]
GeneIDi7462
KEGGihsa:7462
UCSCiuc003uag.4 human [Q9GZY6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257135 mRNA Translation: AAF91352.1
AF045555 Genomic DNA Translation: AAF74978.1
AY190023 mRNA Translation: AAO63155.1
AF252611 mRNA Translation: AAK37429.1
AF252612 mRNA Translation: AAK37430.1
AF252613 mRNA Translation: AAK37633.1
AF252614 mRNA Translation: AAK37431.1
AF161531 mRNA Translation: AAF29018.1 Frameshift.
AK002099 mRNA Translation: BAA92084.1
AK092904 mRNA Translation: BAG52627.1
AK290074 mRNA Translation: BAF82763.1
AK290916 mRNA Translation: BAF83605.1
AC005081 Genomic DNA Translation: AAS07404.1
AC005081 Genomic DNA Translation: AAS07405.1
CH471200 Genomic DNA Translation: EAW69610.1
CH471200 Genomic DNA Translation: EAW69611.1
CH471200 Genomic DNA Translation: EAW69612.1
CH471200 Genomic DNA Translation: EAW69613.1
BC001609 mRNA Translation: AAH01609.1
BC009204 mRNA Translation: AAH09204.1
CCDSiCCDS5566.2 [Q9GZY6-1]
RefSeqiNP_054865.2, NM_014146.3 [Q9GZY6-1]
NP_115852.1, NM_032463.2 [Q9GZY6-1]
NP_115853.2, NM_032464.2 [Q9GZY6-1]
XP_011514860.1, XM_011516558.2 [Q9GZY6-1]
UniGeneiHs.741249

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MAZX-ray1.90B133-141[»]
ProteinModelPortaliQ9GZY6
SMRiQ9GZY6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113301, 4 interactors
IntActiQ9GZY6, 1 interactor
STRINGi9606.ENSP00000275635

PTM databases

iPTMnetiQ9GZY6
PhosphoSitePlusiQ9GZY6
SwissPalmiQ9GZY6

Polymorphism and mutation databases

BioMutaiLAT2

Proteomic databases

EPDiQ9GZY6
MaxQBiQ9GZY6
PaxDbiQ9GZY6
PeptideAtlasiQ9GZY6
PRIDEiQ9GZY6
ProteomicsDBi80174
80175 [Q9GZY6-2]

Protocols and materials databases

DNASUi7462
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000275635; ENSP00000275635; ENSG00000086730 [Q9GZY6-1]
ENST00000344995; ENSP00000344881; ENSG00000086730 [Q9GZY6-1]
ENST00000398475; ENSP00000381492; ENSG00000086730 [Q9GZY6-1]
ENST00000460943; ENSP00000420494; ENSG00000086730 [Q9GZY6-1]
ENST00000488266; ENSP00000433807; ENSG00000086730 [Q9GZY6-2]
GeneIDi7462
KEGGihsa:7462
UCSCiuc003uag.4 human [Q9GZY6-1]

Organism-specific databases

CTDi7462
DisGeNETi7462
EuPathDBiHostDB:ENSG00000086730.16
GeneCardsiLAT2
HGNCiHGNC:12749 LAT2
HPAiHPA003462
MIMi605719 gene
neXtProtiNX_Q9GZY6
OpenTargetsiENSG00000086730
PharmGKBiPA37356
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZVX Eukaryota
ENOG4111816 LUCA
GeneTreeiENSGT00390000006821
HOVERGENiHBG082063
InParanoidiQ9GZY6
OMAiEDQQSFT
OrthoDBiEOG091G0M21
PhylomeDBiQ9GZY6
TreeFamiTF336203

Enzyme and pathway databases

ReactomeiR-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilization
SignaLinkiQ9GZY6

Miscellaneous databases

ChiTaRSiLAT2 human
EvolutionaryTraceiQ9GZY6
GeneWikiiLAT2
GenomeRNAii7462
PROiPR:Q9GZY6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000086730 Expressed in 190 organ(s), highest expression level in blood
CleanExiHS_LAT2
ExpressionAtlasiQ9GZY6 baseline and differential
GenevisibleiQ9GZY6 HS

Family and domain databases

InterProiView protein in InterPro
IPR031428 LAT2
PANTHERiPTHR15646 PTHR15646, 1 hit
PfamiView protein in Pfam
PF15703 LAT2, 2 hits
ProDomiView protein in ProDom or Entries sharing at least one domain
PD332876 PD332876, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNTAL_HUMAN
AccessioniPrimary (citable) accession number: Q9GZY6
Secondary accession number(s): A6NFK6
, A8K209, A8K4F1, D3DXF9, Q9BXX8, Q9NZY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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