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EMID1 EMI domain containing 1 [ Homo sapiens (human) ]

Gene ID: 129080, updated on 3-Apr-2024

Summary

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Official Symbol
EMID1provided by HGNC
Official Full Name
EMI domain containing 1provided by HGNC
Primary source
HGNC:HGNC:18036
See related
Ensembl:ENSG00000186998 MIM:608926; AllianceGenome:HGNC:18036
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
EMI5; EMU1
Summary
Predicted to be located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and extracellular matrix. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 4.8), adrenal (RPKM 3.1) and 21 other tissues See more
Orthologs
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Genomic context

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See EMID1 in Genome Data Viewer
Location:
22q12.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29205896..29259597)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29669406..29723089)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29601885..29655586)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene kringle containing transmembrane protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29536985-29537486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29537487-29537986 Neighboring gene RNA, U6 small nuclear 810, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29541773-29542473 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29547849-29548632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18810 Neighboring gene uncharacterized LOC101929638 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1165 Neighboring gene Sharpr-MPRA regulatory region 4816 Neighboring gene RNA, U6 small nuclear 1219, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29610708-29611288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29611289-29611868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29611869-29612448 Neighboring gene uncharacterized LOC124905099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29612449-29613028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29613609-29614188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29614189-29614768 Neighboring gene uncharacterized LOC105372985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29619669-29620170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29629634-29630134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29630135-29630635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29655585-29656439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29656440-29657293 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29663849-29664720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18813 Neighboring gene rhomboid domain containing 3 Neighboring gene EWS RNA binding protein 1

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. Developmental expression and biochemical characterization of Emu family members. Leimeister C, et al. Dev Biol, 2002 Sep 15. PMID 12221002
  2. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
  3. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Michailidou K, et al. Nat Genet, 2013 Apr. PMID 23535729, Free PMC Article
  4. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
  5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

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 identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC50657

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
EMI domain-containing protein 1
Names
emilin and multimerin domain-containing protein 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_001267895.2 → NP_001254824.1  EMI domain-containing protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001254824.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the coding region, compared to variant 1. The resulting isoform (2) lacks two internal amino acids, compared to isoform 1.
    Source sequence(s)
    AJ416090, BC013830, Z95116
    UniProtKB/Swiss-Prot
    B0QYK6, Q6ICG1, Q86SS7, Q96A84
    UniProtKB/TrEMBL
    B0QYK4
    Conserved Domains (2) summary
    pfam01391
    Location:333 → 368
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  2. NM_001410828.1 → NP_001397757.1  EMI domain-containing protein 1 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL031186, Z95116
    Consensus CDS
    CCDS93143.1
    UniProtKB/TrEMBL
    B0QYK5
    Related
    ENSP00000384452.3, ENST00000404820.7

  3. NM_133455.4 → NP_597712.2  EMI domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_597712.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AJ416090, BC013830, BC046358, Z95116
    Consensus CDS
    CCDS33630.1
    UniProtKB/TrEMBL
    B0QYK4
    Related
    ENSP00000335481.6, ENST00000334018.11
    Conserved Domains (2) summary
    pfam01391
    Location:335 → 370
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    29205896..29259597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529869.4 → XP_011528171.1  EMI domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    pfam01391
    Location:352 → 387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  2. XM_011529868.4 → XP_011528170.1  EMI domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:352 → 387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  3. XM_011529870.4 → XP_011528172.1  EMI domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    pfam01391
    Location:352 → 387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  4. XM_047441134.1 → XP_047297090.1  EMI domain-containing protein 1 isoform X7

  5. XM_047441133.1 → XP_047297089.1  EMI domain-containing protein 1 isoform X5

  6. XM_011529871.4 → XP_011528173.1  EMI domain-containing protein 1 isoform X4

    Conserved Domains (2) summary
    pfam01391
    Location:324 → 359
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  7. XM_047441135.1 → XP_047297091.1  EMI domain-containing protein 1 isoform X10

  8. XM_005261329.4 → XP_005261386.1  EMI domain-containing protein 1 isoform X9

    UniProtKB/TrEMBL
    B0QYK4
    Conserved Domains (2) summary
    pfam01391
    Location:307 → 342
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  9. XM_011529872.4 → XP_011528174.1  EMI domain-containing protein 1 isoform X6

    Conserved Domains (2) summary
    pfam01391
    Location:352 → 387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  10. XM_011529873.4 → XP_011528175.1  EMI domain-containing protein 1 isoform X8

    Conserved Domains (2) summary
    pfam01391
    Location:352 → 387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35 → 100
    EMI; EMI domain

  11. XM_047441136.1 → XP_047297092.1  EMI domain-containing protein 1 isoform X11

  12. XM_047441137.1 → XP_047297093.1  EMI domain-containing protein 1 isoform X12

  13. XM_011529875.2 → XP_011528177.1  EMI domain-containing protein 1 isoform X13

  14. XM_011529876.2 → XP_011528178.1  EMI domain-containing protein 1 isoform X14

RNA

  1. XR_937808.4 RNA Sequence

  2. XR_937810.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    29669406..29723089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325086.1 → XP_054181061.1  EMI domain-containing protein 1 isoform X2

  2. XM_054325085.1 → XP_054181060.1  EMI domain-containing protein 1 isoform X1

  3. XM_054325087.1 → XP_054181062.1  EMI domain-containing protein 1 isoform X3

  4. XM_054325091.1 → XP_054181066.1  EMI domain-containing protein 1 isoform X7

  5. XM_054325089.1 → XP_054181064.1  EMI domain-containing protein 1 isoform X5

  6. XM_054325088.1 → XP_054181063.1  EMI domain-containing protein 1 isoform X4

  7. XM_054325094.1 → XP_054181069.1  EMI domain-containing protein 1 isoform X10

  8. XM_054325093.1 → XP_054181068.1  EMI domain-containing protein 1 isoform X9

  9. XM_054325090.1 → XP_054181065.1  EMI domain-containing protein 1 isoform X6

  10. XM_054325092.1 → XP_054181067.1  EMI domain-containing protein 1 isoform X8

  11. XM_054325095.1 → XP_054181070.1  EMI domain-containing protein 1 isoform X11

  12. XM_054325096.1 → XP_054181071.1  EMI domain-containing protein 1 isoform X12

  13. XM_054325097.1 → XP_054181072.1  EMI domain-containing protein 1 isoform X13

  14. XM_054325098.1 → XP_054181073.1  EMI domain-containing protein 1 isoform X14

RNA

  1. XR_008485366.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96A84.1 GenPept UniProtKB/Swiss-Prot:Q96A84

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