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EMC10 ER membrane protein complex subunit 10 [ Homo sapiens (human) ]

Gene ID: 284361, updated on 13-Dec-2022

Summary

Official Symbol
EMC10provided by HGNC
Official Full Name
ER membrane protein complex subunit 10provided by HGNC
Primary source
HGNC:HGNC:27609
See related
Ensembl:ENSG00000161671 MIM:614545; AllianceGenome:HGNC:27609
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
HSM1; HSS1; NEDDFAS; C19orf63
Summary
Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in extracellular region. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 28.0), testis (RPKM 24.5) and 25 other tissues See more
Orthologs
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Genomic context

See EMC10 in Genome Data Viewer
Location:
19q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50476507..50490871)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53563993..53578354)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50979764..50994128)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Spi-B transcription factor Neighboring gene myosin binding protein C2 Neighboring gene golgi associated RAB2 interactor 5A Neighboring gene uncharacterized LOC124904747 Neighboring gene Josephin domain containing 2 Neighboring gene aspartate dehydrogenase domain containing

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?

Phenotypes

Associated conditions

Description Tests
Neurodevelopmental disorder with dysmorphic facies and variable seizures
MedGen: C5543268 OMIM: 619264 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of smoking behaviours among Bangladeshi adults.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33203

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to membrane insertase activity IMP
Inferred from Mutant Phenotype
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 
part_of EMC complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of EMC complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ER membrane protein complex subunit 10
Names
UPF0510 protein INM02
hematopoietic signal peptide-containing membrane domain-containing 1
hematopoietic signal peptide-containing secreted 1

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)

  1. NM_175063.6NP_778233.4  ER membrane protein complex subunit 10 isoform 1 precursor

    See identical proteins and their annotated locations for NP_778233.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC020909, AL512761, HY107516
    Consensus CDS
    CCDS42594.1
    UniProtKB/Swiss-Prot
    Q5UCC4
    Related
    ENSP00000366117.2, ENST00000376918.7
  2. NM_206538.4NP_996261.1  ER membrane protein complex subunit 10 isoform 2 precursor

    See identical proteins and their annotated locations for NP_996261.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region that results in a frameshift compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC020909, HY107516, HY149334
    Consensus CDS
    CCDS12796.1
    UniProtKB/Swiss-Prot
    Q5UCC4, Q8N541
    Related
    ENSP00000334037.6, ENST00000334976.11
    Conserved Domains (1) summary
    cd22209
    Location:54196
    EMC10; ER membrane protein complex subunit 10 and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    50476507..50490871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    53563993..53578354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)