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

Gene ID: 284361, updated on 22-Aug-2021

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
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
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:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (50476483..50505905)
105.20201022 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 family with sequence similarity 71 member E1 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
Genome-wide association study of smoking behaviours among Bangladeshi adults.
GeneReviews: Not available
Neurodevelopmental disorder with dysmorphic facies and variable seizures
MedGen: CN296333 OMIM: 619264 GeneReviews: Not available
not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33203

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
    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 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

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    50476483..50505905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526818.2XP_011525120.1  ER membrane protein complex subunit 10 isoform X2

  2. XM_006723163.3XP_006723226.1  ER membrane protein complex subunit 10 isoform X1

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