TAMALIN (trafficking regulator and scaffold protein tamalin)

Gene

• Entrez ID: 160622
• Gene name: Trafficking regulator and scaffold protein tamalin
• Gene symbol: TAMALIN
• Synonyms (NCBI Gene): GRASP
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domai

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA

Other IDs

• MIM: 612027
• HGNC: 18707
• e!Ensembl: ENSG00000161835

Protein

• UniProt ID: Q7Z6J2
• Protein name: Protein TAMALIN (General receptor for phosphoinositides 1-associated scaffold protein) (GRP1-associated scaffold protein)
• Protein function: Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses.
• PDB: 2PNT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	101 → 187	PDZ domain	Domain

• Sequence:

  MTLRRLRKLQQKEEAAATPDPAARTPDSEVAPAAPVPTPGPPAAAATPGPPADELYAALE
  DYHPAELYRALAVSGGTLPRRKGSGFRWKNLSQSPEQQRKVLTLEKEDNQTFGFEIQTYG
  LHHREEQRVEMVTFVCRVHESSPAQLAGLTPGDTIASVNGLNVEGIRHREIVDIIKASGN
  VLRLETLYGTSIRKAELEARLQYLKQTLYEKWGEYRSLMVQEQRLVHGLVVKDPSIYDTL
  ESVRSCLYGAGLLPGSLPFGPLLAVPGRPRGGARRARGDADDAVYHTCFFGDSEPPALPP
  PPPPARAFGPGPAETPAVGPGPGPRAALSRSASVRCAGPGGGGGGGAPGALWTEAREQAL
  CGPGLRKTKYRSFRRRLLKFIPGLNRSLEEEESQL

• Sequence length: 395

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Anophthalmia-microphthalmia syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	23096130		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25591454		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	25591454	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23096130		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26059414, 38062093	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23096130		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23096130	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21625442, 26059414, 30779348		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27576605		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26059414, 30058079		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27576605		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30866497	Associate	★☆☆☆☆ Found in Text Mining only