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LYSET lysosomal enzyme trafficking factor [ Homo sapiens (human) ]

Gene ID: 26175, updated on 2-Nov-2024

Summary

Official Symbol
LYSETprovided by HGNC
Official Full Name
lysosomal enzyme trafficking factorprovided by HGNC
Primary source
HGNC:HGNC:20218
See related
Ensembl:ENSG00000153485 MIM:619332; AllianceGenome:HGNC:20218
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
DMAN; GCAF; TMEM251; C14orf109
Summary
Involved in lysosomal transport; lysosome organization; and regulation of vesicle-mediated transport. Located in Golgi cisterna. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in prostate (RPKM 12.5), kidney (RPKM 10.9) and 25 other tissues See more
Orthologs
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Try the new Transcript table

Genomic context

See LYSET in Genome Data Viewer
Location:
14q32.12
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93184974..93188463)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87416913..87420404)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93651319..93654808)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93604409-93604908 Neighboring gene cytochrome b5 type A pseudogene 3 Neighboring gene modulator of apoptosis 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:93672647-93673506 Neighboring gene GON7 subunit of KEOPS complex Neighboring gene ubiquitin protein ligase E3 component n-recognin 7 Neighboring gene ribosomal protein L18a pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Clone Names

  • DKFZp564F1123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in lysosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi cisterna IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
lysosomal enzyme trafficking factor
Names
GNPTAB cleavage and activity factor
UPF0694 transmembrane protein C14orf109
transmembrane protein 251

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_001098621.4NP_001092091.2  lysosomal enzyme trafficking factor isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI056285, AL110118, CX785861
    Consensus CDS
    CCDS45158.2
    UniProtKB/Swiss-Prot
    J3KQ65, Q8N6I4, Q9Y4S5
    Related
    ENSP00000388431.3, ENST00000415050.3
    Conserved Domains (1) summary
    pfam15190
    Location:34161
    TMEM251; Transmembrane protein 251
  2. NM_015676.3NP_056491.1  lysosomal enzyme trafficking factor isoform 2

    See identical proteins and their annotated locations for NP_056491.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate first exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AI056285, AL110118, AW404266, BC030119
    Consensus CDS
    CCDS41980.1
    UniProtKB/Swiss-Prot
    Q8N6I4
    Related
    ENSP00000283534.4, ENST00000283534.4
    Conserved Domains (1) summary
    pfam15190
    Location:2129
    DUF4583; Domain of unknown function (DUF4583)

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

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    93184974..93188463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    299536..303025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    87416913..87420404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)