TAMALIN trafficking regulator and scaffold protein tamalin [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAMALINprovided by HGNC
Official Full Name: trafficking regulator and scaffold protein tamalinprovided by HGNC
Primary source: HGNC:HGNC:18707
See related: Ensembl:ENSG00000161835 MIM:612027; AllianceGenome:HGNC:18707
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GRASP
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 domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]
Expression: Broad expression in bone marrow (RPKM 8.3), fat (RPKM 7.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52006946..52015889)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (51970517..51979459)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52400730..52409673)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The post-synaptic scaffolding protein tamalin regulates ligand-mediated trafficking of metabotropic glutamate receptors.
Title: The post-synaptic scaffolding protein tamalin regulates ligand-mediated trafficking of metabotropic glutamate receptors.
Schizophrenia subjects compared to controls showed a marked increase in CA1 hippocampal Norbin, and Tamalin proteins (47% and 34% respectively), which are endogenous regulators of mGluR5 signalling and trafficking
Title: Metabotropic glutamate receptor 5, and its trafficking molecules Norbin and Tamalin, are increased in the CA1 hippocampal region of subjects with schizophrenia.
myristoylated GRASP promoted tethering and exhibited a unique membrane complex. Thus, myristoylation restricts the membrane orientation of the GRASP domain favoring interactions in trans for membrane tethering.
Title: Myristoylation restricts orientation of the GRASP domain on membranes and promotes membrane tethering.
GRASP bridges the guanine nucleotide exchange factors (GEFs) that activate Arf and Rac, thereby promoting Arf-to-Rac signaling By binding to both cytohesin 2/ARNO and Dock180.
Title: The scaffolding protein GRASP/Tamalin directly binds to Dock180 as well as to cytohesins facilitating GTPase crosstalk in epithelial cell migration.
GRASP regulates the non-clathrin/Arf6-dependent, plasma membrane recycling and signalling pathways.
Title: Grp1-associated scaffold protein (GRASP) is a regulator of the ADP ribosylation factor 6 (Arf6)-dependent membrane trafficking pathway.
the structural basis of the phosphoinhibition of GRASP-mediated membrane tethering and provide a mechanism for its allosteric regulation.
Title: Allosteric regulation of GRASP protein-dependent Golgi membrane tethering by mitotic phosphorylation.
protein-protein interaction mediated by ARNO coiled-coil domain required for ARNO induced motility; coiled-coil domain promotes assembly of multiprotein complex containing ARNO and Dock180; assembly of complex requires coiled-coil domain, GRASP and IPCEF
Title: GRASP and IPCEF promote ARF-to-Rac signaling and cell migration by coordinating the association of ARNO/cytohesin 2 with Dock180.
The crystal structures of the autoinhibitory PDZ domain of Tamalin has implications for the regulation of metabotropic glutamate receptor trafficking.
Title: Crystal structures of autoinhibitory PDZ domain of Tamalin: implications for metabotropic glutamate receptor trafficking regulation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G64229 (e-PCR)
- UniSTS:166792

STS-AA024848 (e-PCR)
- UniSTS:4055

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein TAMALIN

Names: GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein; general receptor for phosphoinositides 1 associated scaffold protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_050572.1 RefSeqGene

Range

5010..13953

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271856.2 → NP_001258785.1 protein TAMALIN isoform 2

See identical proteins and their annotated locations for NP_001258785.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

BC035500, BC052967, HY035281

Consensus CDS

CCDS61124.1

UniProtKB/Swiss-Prot

Q7Z6J2

Related

ENSP00000449492.1, ENST00000552049.5

Conserved Domains (1) summary

cd00992
Location:9 → 42

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_181711.4 → NP_859062.1 protein TAMALIN isoform 1

See identical proteins and their annotated locations for NP_859062.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC052967, BC053666, HY052304

Consensus CDS

CCDS8817.1

UniProtKB/Swiss-Prot

Q6PIF8, Q7Z6J2, Q7Z741

Related

ENSP00000293662.4, ENST00000293662.9

Conserved Domains (1) summary

cd00992
Location:100 → 185

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

52006946..52015889

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428439.1 → XP_047284395.1 protein TAMALIN isoform X1

Related

ENSP00000448476.1, ENST00000546756.1
XM_005268691.4 → XP_005268748.1 protein TAMALIN isoform X1

See identical proteins and their annotated locations for XP_005268748.1

Conserved Domains (1) summary

cd00992
Location:4 → 55

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...