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EMC9 ER membrane protein complex subunit 9 [ Homo sapiens (human) ]

Gene ID: 51016, updated on 7-Jun-2020

Summary

Official Symbol
EMC9provided by HGNC
Official Full Name
ER membrane protein complex subunit 9provided by HGNC
Primary source
HGNC:HGNC:20273
See related
Ensembl:ENSG00000100908
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
CGI-112; FAM158A; C14orf122
Expression
Ubiquitous expression in appendix (RPKM 5.4), duodenum (RPKM 4.9) and 25 other tissues See more
Orthologs

Genomic context

See EMC9 in Genome Data Viewer
Location:
14q12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24138959..24142602, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24608081..24610837, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene neural retina leucine zipper Neighboring gene DDB1 and CUL4 associated factor 11 Neighboring gene fat storage inducing transmembrane protein 1 Neighboring gene proteasome activator subunit 1 Neighboring gene microRNA 7703 Neighboring gene proteasome activator subunit 2 Neighboring gene ring finger protein 31 Neighboring gene RNA, 5S ribosomal pseudogene 383

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

Phenotypes

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
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 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ER membrane protein complex subunit 9
Names
UPF0172 protein FAM158A
family with sequence similarity 158, member A

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_001346874.2NP_001333803.1  ER membrane protein complex subunit 9 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), as well as variants 3-5, encodes isoform b.
    Source sequence(s)
    AL136295
    Consensus CDS
    CCDS86377.1
    UniProtKB/TrEMBL
    H0YNH6
    Conserved Domains (1) summary
    cl13996
    Location:18114
    MPN; Mpr1p, Pad1p N-terminal (MPN) domains
  2. NM_001346875.2NP_001333804.1  ER membrane protein complex subunit 9 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 2, 4, and 5, encodes isoform b.
    Source sequence(s)
    AL136295
    Consensus CDS
    CCDS86377.1
    UniProtKB/TrEMBL
    H0YNH6
    Conserved Domains (1) summary
    cl13996
    Location:18114
    MPN; Mpr1p, Pad1p N-terminal (MPN) domains
  3. NM_001346876.2NP_001333805.1  ER membrane protein complex subunit 9 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 2, 3, and 5, encodes isoform b.
    Source sequence(s)
    AL136295
    Consensus CDS
    CCDS86377.1
    UniProtKB/TrEMBL
    H0YNH6
    Related
    ENSP00000454016.1, ENST00000560403.5
    Conserved Domains (1) summary
    cl13996
    Location:18114
    MPN; Mpr1p, Pad1p N-terminal (MPN) domains
  4. NM_001346877.2NP_001333806.1  ER membrane protein complex subunit 9 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 2-4, encodes isoform b.
    Source sequence(s)
    AL136295
    Consensus CDS
    CCDS86377.1
    UniProtKB/TrEMBL
    H0YNH6
    Conserved Domains (1) summary
    cl13996
    Location:18114
    MPN; Mpr1p, Pad1p N-terminal (MPN) domains
  5. NM_016049.4NP_057133.2  ER membrane protein complex subunit 9 isoform a

    See identical proteins and their annotated locations for NP_057133.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AL136295, BC002491
    Consensus CDS
    CCDS9613.1
    UniProtKB/Swiss-Prot
    Q9Y3B6
    Related
    ENSP00000216799.4, ENST00000216799.9
    Conserved Domains (1) summary
    cd08060
    Location:6188
    MPN_UPF0172; Mov34/MPN/PAD-1 family: UPF0172 family of unknown function includes neighbor of COX4 (Noc4p)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24138959..24142602 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449620.1XP_024305388.1  ER membrane protein complex subunit 9 isoform X2

    Conserved Domains (1) summary
    cl13996
    Location:18114
    MPN; Mpr1p, Pad1p N-terminal (MPN) domains
  2. XM_024449621.1XP_024305389.1  ER membrane protein complex subunit 9 isoform X2

    Conserved Domains (1) summary
    cl13996
    Location:18114
    MPN; Mpr1p, Pad1p N-terminal (MPN) domains
  3. XM_005267721.5XP_005267778.1  ER membrane protein complex subunit 9 isoform X1

    See identical proteins and their annotated locations for XP_005267778.1

    UniProtKB/Swiss-Prot
    Q9Y3B6
    Related
    ENSP00000403210.2, ENST00000419198.6
    Conserved Domains (1) summary
    cd08060
    Location:6188
    MPN_UPF0172; Mov34/MPN/PAD-1 family: UPF0172 family of unknown function includes neighbor of COX4 (Noc4p)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p13 PATCHES

    Range
    439943..442569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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