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LRTM1 leucine rich repeats and transmembrane domains 1 [ Homo sapiens (human) ]

Gene ID: 57408, updated on 23-Nov-2021

Summary

Official Symbol
LRTM1provided by HGNC
Official Full Name
leucine rich repeats and transmembrane domains 1provided by HGNC
Primary source
HGNC:HGNC:25023
See related
Ensembl:ENSG00000144771
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
Also known as
HT017
Expression
Biased expression in spleen (RPKM 2.9), esophagus (RPKM 1.8) and 1 other tissue See more
Orthologs
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Genomic context

See LRTM1 in Genome Data Viewer
Location:
3p14.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (54918231..54967102, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (54952258..55001129, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 3 Neighboring gene embryonic stem cell related Neighboring gene CACNA2D3 antisense RNA 1 Neighboring gene uncharacterized LOC107986089 Neighboring gene VISTA enhancer hs1436

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

Phenotypes

Associated conditions

Description Tests
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Roundabout binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeat and transmembrane domain-containing protein 1

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.

mRNA and Protein(s)

  1. NM_001304389.2NP_001291318.1  leucine-rich repeat and transmembrane domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001291318.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC092797, AC109584, BC040732
    Consensus CDS
    CCDS77753.1
    UniProtKB/Swiss-Prot
    Q9HBL6
    Related
    ENSP00000419772.1, ENST00000493075.1
    Conserved Domains (2) summary
    sd00031
    Location:2447
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:1558
    LRR_8; Leucine rich repeat
  2. NM_020678.4NP_065729.1  leucine-rich repeat and transmembrane domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_065729.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC092797, AC109584, AF225421, BM716618
    Consensus CDS
    CCDS2876.1
    UniProtKB/Swiss-Prot
    Q9HBL6
    Related
    ENSP00000273286.5, ENST00000273286.6
    Conserved Domains (3) summary
    sd00033
    Location:3451
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:98139
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:50134
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    54918231..54967102 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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