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

Gene ID: 160622, updated on 27-Jun-2020

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
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

Genomic context

See TAMALIN in Genome Data Viewer
Location:
12q13.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52006946..52015889)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52400729..52409673)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene activin A receptor like type 1 Neighboring gene activin A receptor type 1B Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene TAMALIN antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2055 Neighboring gene nuclear receptor subfamily 4 group A member 1 Neighboring gene uncharacterized LOC107984510

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP-ribosylation factor binding IEA
Inferred from Electronic Annotation
more info
 
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein localization IEA
Inferred from Electronic Annotation
more info
 
regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_050572.1 RefSeqGene

    Range
    5010..13953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271856.2NP_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:942
    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) ...
  2. NM_181711.4NP_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
    Q7Z6J2
    Related
    ENSP00000293662.4, ENST00000293662.9
    Conserved Domains (1) summary
    cd00992
    Location:100185
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    52006946..52015889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268691.3XP_005268748.1  general receptor for phosphoinositides 1-associated scaffold protein isoform X1

    See identical proteins and their annotated locations for XP_005268748.1

    Conserved Domains (1) summary
    cd00992
    Location:455
    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) ...
  2. XM_011537996.1XP_011536298.1  general receptor for phosphoinositides 1-associated scaffold protein isoform X1

    See identical proteins and their annotated locations for XP_011536298.1

    Related
    ENSP00000448476.1, ENST00000546756.1
    Conserved Domains (1) summary
    cd00992
    Location:455
    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) ...
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