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

Gene ID: 284361, updated on 5-Mar-2024

Summary

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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
mouse all
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Genomic context

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Location:
19q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50476507..50490871)
RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 14987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50930914-50931487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50931488-50932060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10967 Neighboring gene Spi-B transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50935955-50936713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50937528-50938028 Neighboring gene myosin binding protein C2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50954383-50954951 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50970469-50970655 Neighboring gene golgi associated RAB2 interactor 5A Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50979402-50979902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14991 Neighboring gene MYBPC2 cis regulating lncRNA enhancer of myogenesis Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51004588-51005251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013121-51013628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013629-51014135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14992 Neighboring gene uncharacterized LOC124904747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51015053-51015642 Neighboring gene Josephin domain containing 2 Neighboring gene aspartate dehydrogenase domain containing

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. EMC10-Related Neurodevelopmental Disorder. Adam MP, et al. , 1993. PMID 37319253
  2. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Kaiyrzhanov R, et al. Ann Clin Transl Neurol, 2022 Jul. PMID 35684946, Free PMC Article
  3. The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment. Haddad-Eid E, et al. Eur J Paediatr Neurol, 2022 Mar. PMID 35124540
  4. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Shao DD, et al. Genet Med, 2021 Jun. PMID 33531666, Free PMC Article
  5. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Umair M, et al. Clin Genet, 2020 Dec. PMID 32869858, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Secreted EMC10 is upregulated in human obesity and its neutralizing antibody prevents diet-induced obesity in mice.
    Title: Secreted EMC10 is upregulated in human obesity and its neutralizing antibody prevents diet-induced obesity in mice.
  2. Membrane-Bound EMC10 Is Required for Sperm Motility via Maintaining the Homeostasis of Cytoplasm Sodium in Sperm.
    Title: Membrane-Bound EMC10 Is Required for Sperm Motility via Maintaining the Homeostasis of Cytoplasm Sodium in Sperm.
  3. Biallelic loss of EMC10 leads to mild to severe intellectual disability.
    Title: Biallelic loss of EMC10 leads to mild to severe intellectual disability.
  4. The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment.
    Title: The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment.
  5. An engineered transcriptional reporter of protein localization identifies regulators of mitochondrial and ER membrane protein trafficking in high-throughput CRISPRi screens.
    Title: An engineered transcriptional reporter of protein localization identifies regulators of mitochondrial and ER membrane protein trafficking in high-throughput CRISPRi screens.
  6. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
    Title: EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
  7. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
    Title: A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
  8. Sperm EMC10 levels are positively associated with sperm motility in human.
    Title: EMC10 governs male fertility via maintaining sperm ion balance.
  9. hHSS1-overexpression modulates signaling pathways involved in tumorigenesis.
    Title: Human Hematopoietic Signal peptide-containing Secreted 1 (hHSS1) modulates genes and pathways in glioma: implications for the regulation of tumorigenicity and angiogenesis.
  10. High-expression of hHSS1 is associated high-grade gliomas.
    Title: hHSS1: a novel secreted factor and suppressor of glioma growth located at chromosome 19q13.33.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 
Process Evidence Code Pubs
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of endothelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
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 endoplasmic reticulum membrane NAS
Non-traceable Author Statement
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

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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_175063.6 → NP_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_206538.4 → NP_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, Q5UCC6, Q69YT5, Q6UWP3, Q86YL4, Q8N541
    Related
    ENSP00000334037.6, ENST00000334976.11
    Conserved Domains (1) summary
    cd22209
    Location:54 → 196
    EMC10; ER membrane protein complex subunit 10 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5UCC4.1 GenPept UniProtKB/Swiss-Prot:Q5UCC4

Gene LinkOut

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