Official Symbol

LYSTprovided by HGNC

Official Full Name

lysosomal trafficking regulatorprovided by HGNC

Primary Source

HGNC:1968

See related

Ensembl:ENSG00000143669; HPRD:06060; MIM:606897

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

CHS; CHS1; LYST

Summary

This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene are associated with Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternatively spliced transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq]

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer

Preferred Names

lysosomal trafficking regulator

Names

lysosomal trafficking regulator

beige protein

Chediak-Higashi syndrome 1

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.

Genomic

1. NG_007397.1 RefSeqGene

   Range

   21720..227597

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   GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

1. NM_000081.2 → NP_000072.2  lysosomal trafficking regulator

   Source sequence(s)

   BI031463,BX649113,U67615

   Consensus CDS

   CCDS31062.1

   UniProtKB/Swiss-Prot

   Q99698

   Conserved Domains (2) summary

   cd06071
   Location:3132 – 3422
   Blast Score: 1017

   Beach; BEACH (Beige and Chediak-Higashi) domains, implicated in membrane trafficking, are present in a family of proteins conserved throughout eukaryotes. This group contains human lysosomal trafficking regulator (LYST), LPS-responsive and beige-like anchor...

   cl02567
   Location:3477 – 3778
   Blast Score: 265

   WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues...

RefSeqs of Annotated Genomes: Build 37.1

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

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000001.10

   Range

   235824342..236030219, complement

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   GenBank FASTA Sequence Viewer (Graphics)

2. NT_167186.1 

   Range

   29342121..29547998, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000044.1

   Range

   209067679..209273531, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NW_927128.1 

   Range

   11648849..11854701, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000133.1

   Range

   206276089..206481680, complement

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   GenBank FASTA Sequence Viewer (Graphics)

2. NW_001838549.1 

   Range

   5319659..5525250, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

These RefSeqs were suppressed for the cited reason(s). Suppressed RefSeqs do not appear in BLAST databases, related sequence links, or BLAST links (BLink), but may still be retrieved by clicking on their accession.version below.

1. NM_001005736.1: Suppressed sequence

   Description

   NM_001005736.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.