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LAPTM4B lysosomal protein transmembrane 4 beta [ Homo sapiens (human) ]

Gene ID: 55353, updated on 24-Nov-2020

Summary

Official Symbol
LAPTM4Bprovided by HGNC
Official Full Name
lysosomal protein transmembrane 4 betaprovided by HGNC
Primary source
HGNC:HGNC:13646
See related
Ensembl:ENSG00000104341 MIM:613296
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
LC27; LAPTM4beta
Expression
Ubiquitous expression in heart (RPKM 97.2), testis (RPKM 52.3) and 23 other tissues See more
Orthologs

Genomic context

See LAPTM4B in Genome Data Viewer
Location:
8q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (97775788..97853013)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (98787809..98864830)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 33 Neighboring gene metadherin Neighboring gene transmembrane protein 69 pseudogene Neighboring gene SUMO2 pseudogene 18 Neighboring gene ribosomal protein S23 pseudogene 1

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

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
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
ceramide binding IDA
Inferred from Direct Assay
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell projection IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body membrane IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body, internal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
lysosomal-associated transmembrane protein 4B
Names
lysosomal associated protein transmembrane 4 beta
lysosome-associated transmembrane protein 4-beta

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.

mRNA and Protein(s)

  1. NM_018407.6NP_060877.4  lysosomal-associated transmembrane protein 4B

    Status: VALIDATED

    Source sequence(s)
    AI079853, AP002906, AP003357, AY261384
    Consensus CDS
    CCDS6275.1
    Related
    ENSP00000428409.1, ENST00000521545.7
    Conserved Domains (1) summary
    cl04276
    Location:9226
    Mtp; Golgi 4-transmembrane spanning transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    97775788..97853013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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