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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
    mouse all
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    Genomic context

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

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