Format

Send to:

Choose Destination

TMEM165 transmembrane protein 165 [ Homo sapiens (human) ]

Gene ID: 55858, updated on 26-May-2016
Official Symbol
TMEM165provided by HGNC
Official Full Name
transmembrane protein 165provided by HGNC
Primary source
HGNC:HGNC:30760
See related
Ensembl:ENSG00000134851 HPRD:18216; MIM:614726; Vega:OTTHUMG00000128735
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
FT27; GDT1; CDG2K; TPARL; TMPT27
Summary
This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Orthologs
Location:
4q12
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (55395913..55452974)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56262080..56292342)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene steroid 5 alpha-reductase 3 Neighboring gene SRD5A3 antisense RNA 1 Neighboring gene FCF1 pseudogene 8 Neighboring gene uncharacterized LOC105377659 Neighboring gene clock circadian regulator Neighboring gene phosducin like 2 Neighboring gene neuromedin U

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Golgi calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
protein N-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lysosomal lumen pH IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transmembrane protein 165
Names
TPA regulated locus
transmembrane protein PT27
transmembrane protein TPARL

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_032881.1 RefSeqGene

    Range
    5001..35263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018475.4NP_060945.2  transmembrane protein 165 precursor

    See identical proteins and their annotated locations for NP_060945.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript.
    Source sequence(s)
    AF183409, BC107582, HY089602
    Consensus CDS
    CCDS3499.1
    UniProtKB/Swiss-Prot
    Q9HC07
    Related
    ENSP00000370736, OTTHUMP00000158929, ENST00000381334, OTTHUMT00000250646
    Conserved Domains (2) summary
    COG2119
    Location:96317
    Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]
    pfam01169
    Location:237312
    UPF0016; Uncharacterized protein family UPF0016

RNA

  1. NR_073070.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF183409, AK295289, BC107582, HY089602

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    55395913..55452974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534394.1XP_011532696.1  

    Conserved Domains (2) summary
    COG2119
    Location:96299
    Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]
    pfam01169
    Location:97171
    UPF0016; Uncharacterized protein family UPF0016

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    56297232..56327471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)