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

Gene ID: 26175, updated on 26-Oct-2022

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
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Genomic context

See LYSET in Genome Data Viewer
Location:
14q32.12
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93184974..93188463)
110 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_000014.9Genomic Context describing neighboring genes Neighboring gene cytochrome b5 type A pseudogene 3 Neighboring gene modulator of apoptosis 1 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
  • 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

  • DKFZp564F1123

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_001098621.4NP_001092091.2  transmembrane protein 251 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
    Q9Y4S5
    Related
    ENSP00000388431.3, ENST00000415050.3
    Conserved Domains (1) summary
    pfam15190
    Location:34161
    TMEM251; Transmembrane protein 251
  2. NM_015676.3NP_056491.1  transmembrane protein 251 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: 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_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)