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TMEM127 transmembrane protein 127 [ Homo sapiens (human) ]

Gene ID: 55654, updated on 18-Aug-2020

Summary

Official Symbol
TMEM127provided by HGNC
Official Full Name
transmembrane protein 127provided by HGNC
Primary source
HGNC:HGNC:26038
See related
Ensembl:ENSG00000135956 MIM:613403
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
Summary
This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in heart (RPKM 15.7), esophagus (RPKM 13.6) and 25 other tissues See more
Orthologs

Genomic context

See TMEM127 in Genome Data Viewer
Location:
2q11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (96248514..96265997, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96915946..96931751, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene STARD7 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 112 Neighboring gene Sharpr-MPRA regulatory region 4718 Neighboring gene VISTA enhancer hs1919 Neighboring gene cytosolic iron-sulfur assembly component 1 Neighboring gene small nuclear ribonucleoprotein U5 subunit 200 Neighboring gene Sharpr-MPRA regulatory region 61

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of transmembrane protein 127 (TMEM127; FLJ20507) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20507, FLJ22257

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
endosome organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_027695.1 RefSeqGene

    Range
    5001..20806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_528

mRNA and Protein(s)

  1. NM_001193304.3NP_001180233.1  transmembrane protein 127

    See identical proteins and their annotated locations for NP_001180233.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site, resulting in a shorter 5' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC012307, BC028575, DA212468
    Consensus CDS
    CCDS2018.1
    UniProtKB/Swiss-Prot
    O75204
    Related
    ENSP00000416660.1, ENST00000432959.1
    Conserved Domains (1) summary
    cl21598
    Location:38192
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
  2. NM_017849.4NP_060319.1  transmembrane protein 127

    See identical proteins and their annotated locations for NP_060319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC012307, BC039892, DA212468
    Consensus CDS
    CCDS2018.1
    UniProtKB/Swiss-Prot
    O75204
    Related
    ENSP00000258439.2, ENST00000258439.7
    Conserved Domains (1) summary
    cl21598
    Location:38192
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    96248514..96265997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004450.1XP_016859939.1  transmembrane protein 127 isoform X1

    UniProtKB/TrEMBL
    Q9H6I0
  2. XM_017004452.1XP_016859941.1  transmembrane protein 127 isoform X2

    UniProtKB/TrEMBL
    C9J4H2
    Related
    ENSP00000411810.1, ENST00000435268.1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032218.1: Suppressed sequence

    Description
    NM_032218.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
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