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

    Gene ID: 284361, updated on 27-Nov-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 endoplasmic reticulum membrane and extracellular region. Part of EMC complex. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See EMC10 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50476507..50490871)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53563993..53578354)
    RS_2024_09 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. 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
    3. 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
    4. 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
    5. 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

    See all (49) 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)

    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 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

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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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    NEW Try the new Transcript table

    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

      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

      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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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