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

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: Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in prostate (RPKM 12.5), kidney (RPKM 10.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (93184974..93188463)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (87416913..87420404)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (93651319..93654808)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway.
Title: LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway.
Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.
Title: Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.
The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.
Title: The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Title: Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dysostosis multiplex, Ain-Naz type MedGen: C5444223 OMIM: 619345 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: lysosomal enzyme trafficking factor

Names: GNPTAB cleavage and activity factor; UPF0694 transmembrane protein C14orf109; transmembrane protein 251

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)

NM_001098621.4 → NP_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:34 → 161

TMEM251; Transmembrane protein 251
NM_015676.3 → NP_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:2 → 129

DUF4583; Domain of unknown function (DUF4583)