EMC3 ER membrane protein complex subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EMC3provided by HGNC
Official Full Name: ER membrane protein complex subunit 3provided by HGNC
Primary source: HGNC:HGNC:23999
See related: Ensembl:ENSG00000125037
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: POB; TMEM111
Expression: Ubiquitous expression in fat (RPKM 29.9), testis (RPKM 23.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	3	NC_000003.12 (9962682..10011118, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (10004366..10052802, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S3950 (e-PCR)
- UniSTS:27866

D3S2873E (e-PCR)
- UniSTS:35583

Homology

Homologs of the EMC3 gene: The EMC3 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 406 organisms have orthologs with human gene EMC3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to membrane insertase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tail-anchored membrane protein insertion into ER membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of EMC complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of EMC complex	IDA Inferred from Direct Assay more info	PubMed
located_in integral component of endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in integral component of membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ER membrane protein complex subunit 3

Names: 30 kDa protein; partial optokinetic response b; transmembrane protein 111

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)

NM_001394674.1 → NP_001381603.1 ER membrane protein complex subunit 3

Status: VALIDATED

Source sequence(s)

AC018809, AC022007

Conserved Domains (1) summary

pfam01956
Location:5 → 190

DUF106; Integral membrane protein DUF106
NM_018447.4 → NP_060917.1 ER membrane protein complex subunit 3

See identical proteins and their annotated locations for NP_060917.1

Status: VALIDATED

Source sequence(s)

AF157321, BM993642, BU739600, BX113681, DA359966, HY006276, HY241187

Consensus CDS

CCDS2594.1

UniProtKB/Swiss-Prot

Q9P0I2

Related

ENSP00000245046.2, ENST00000245046.6

Conserved Domains (1) summary

pfam01956
Location:5 → 190

DUF106; Integral membrane protein DUF106

RNA

NR_148535.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC022007, CA310843, DB041952

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p13 Primary Assembly

Range

9962682..10011118 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265321.3 → XP_005265378.1 ER membrane protein complex subunit 3 isoform X1

Conserved Domains (1) summary

pfam01956
Location:5 → 188

DUF106; Integral membrane protein DUF106