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EMC6 ER membrane protein complex subunit 6 [ Homo sapiens (human) ]

Gene ID: 83460, updated on 21-Dec-2019

Summary

Official Symbol
EMC6provided by HGNC
Official Full Name
ER membrane protein complex subunit 6provided by HGNC
Primary source
HGNC:HGNC:28430
See related
Ensembl:ENSG00000127774
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
TMEM93; RAB5IFL
Expression
Ubiquitous expression in kidney (RPKM 12.0), testis (RPKM 10.6) and 25 other tissues See more
Orthologs

Genomic context

See EMC6 in Genome Data Viewer
Location:
17p13.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (3668723..3669669)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3572090..3572962)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371492 Neighboring gene cystinosin, lysosomal cystine transporter Neighboring gene P2RX5-TAX1BP3 readthrough (NMD candidate) Neighboring gene ribosomal protein L21 pseudogene 125 Neighboring gene Tax1 binding protein 3 Neighboring gene purinergic receptor P2X 5 Neighboring gene integrin subunit alpha E Neighboring gene histone H3 associated protein kinase

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2963

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
ER membrane protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER membrane protein complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of omegasome membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ER membrane protein complex subunit 6
Names
transmembrane protein 93

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.

mRNA and Protein(s)

  1. NM_001014764.2NP_001014764.1  ER membrane protein complex subunit 6

    See identical proteins and their annotated locations for NP_001014764.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA161105, BU931404, HY014822
    Consensus CDS
    CCDS11033.1
    UniProtKB/Swiss-Prot
    Q9BV81
    Related
    ENSP00000380322.1, ENST00000397133.2
    Conserved Domains (1) summary
    pfam07019
    Location:25101
    Rab5ip; Rab5-interacting protein (Rab5ip)
  2. NM_031298.4NP_112588.1  ER membrane protein complex subunit 6

    See identical proteins and their annotated locations for NP_112588.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA161105, BM825446, BU931404, HY014822
    Consensus CDS
    CCDS11033.1
    UniProtKB/Swiss-Prot
    Q9BV81
    Related
    ENSP00000248378.4, ENST00000248378.6
    Conserved Domains (1) summary
    pfam07019
    Location:25101
    Rab5ip; Rab5-interacting protein (Rab5ip)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    3668723..3669669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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