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LRRTM1 leucine rich repeat transmembrane neuronal 1 [ Homo sapiens (human) ]

Gene ID: 347730, updated on 5-Aug-2022

Summary

Official Symbol
LRRTM1provided by HGNC
Official Full Name
leucine rich repeat transmembrane neuronal 1provided by HGNC
Primary source
HGNC:HGNC:19408
See related
Ensembl:ENSG00000162951 MIM:610867; AllianceGenome:HGNC:19408
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be involved in regulation of postsynaptic density assembly and regulation of presynapse assembly. Predicted to act upstream of or within several processes, including long-term synaptic potentiation; negative regulation of receptor internalization; and positive regulation of synapse assembly. Located in endoplasmic reticulum and growth cone. Is active in GABA-ergic synapse. Is integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 4.5), salivary gland (RPKM 2.3) and 7 other tissues See more
Orthologs
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Genomic context

See LRRTM1 in Genome Data Viewer
Location:
2p12
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (80288356..80304752, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (80302025..80304899, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (80529003..80531877, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene catenin alpha 2 Neighboring gene uncharacterized LOC107985903 Neighboring gene RBM7 pseudogene 1 Neighboring gene uncharacterized LOC107985904 Neighboring gene uncharacterized LOC105374824

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32082

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
 
involved_in exploration behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of receptor internalization IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to synapse IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor internalization IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
NOT located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in growth cone IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of postsynaptic specialization membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of postsynaptic specialization membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
leucine-rich repeat transmembrane neuronal protein 1
Names
leucine-rich repeat transmembrane neuronal 1 protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_178839.5NP_849161.2  leucine-rich repeat transmembrane neuronal protein 1 precursor

    See identical proteins and their annotated locations for NP_849161.2

    Status: VALIDATED

    Source sequence(s)
    AA977181, AC016670, AY182024, BI756350
    Consensus CDS
    CCDS1966.1
    UniProtKB/Swiss-Prot
    Q86UE6, Q96DN1
    Related
    ENSP00000295057.3, ENST00000295057.4
    Conserved Domains (5) summary
    cd00116
    Location:85268
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:306318
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:91114
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:257297
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:113173
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    80288356..80304752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444146.1XP_047300102.1  leucine-rich repeat transmembrane neuronal protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96DN1
    Related
    ENSP00000393562.1, ENST00000417012.5
  2. XM_017003987.3XP_016859476.1  leucine-rich repeat transmembrane neuronal protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q86UE6, Q96DN1
    Conserved Domains (5) summary
    cd00116
    Location:85268
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:306318
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:91114
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:257297
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:113173
    LRR_8; Leucine rich repeat
  3. XM_017003986.3XP_016859475.1  leucine-rich repeat transmembrane neuronal protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q86UE6, Q96DN1
    Conserved Domains (5) summary
    cd00116
    Location:85268
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:306318
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:91114
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:257297
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:113173
    LRR_8; Leucine rich repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    80302025..80304899 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)