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

Gene ID: 129080, updated on 21-Dec-2019

Summary

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
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
Expression
Broad expression in spleen (RPKM 4.8), adrenal (RPKM 3.1) and 21 other tissues See more
Orthologs

Genomic context

See EMID1 in Genome Data Viewer
Location:
22q12.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (29205896..29259597)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29601901..29655586)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929638 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1165 Neighboring gene Sharpr-MPRA regulatory region 4816 Neighboring gene uncharacterized LOC105372985 Neighboring gene rhomboid domain containing 3 Neighboring gene EWS RNA binding protein 1

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC50657

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
EMI domain-containing protein 1
Names
emilin and multimerin domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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_001267895.2NP_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
    Q96A84
    Conserved Domains (2) summary
    pfam01391
    Location:333368
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  2. NM_133455.4NP_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/Swiss-Prot
    Q96A84
    Related
    ENSP00000335481.6, ENST00000334018.11
    Conserved Domains (2) summary
    pfam01391
    Location:335370
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011529869.3XP_011528171.1  EMI domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    pfam01391
    Location:352387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  2. XM_011529868.3XP_011528170.1  EMI domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    pfam01391
    Location:352387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  3. XM_011529870.3XP_011528172.1  EMI domain-containing protein 1 isoform X4

    Conserved Domains (2) summary
    pfam01391
    Location:352387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  4. XM_005261328.3XP_005261385.1  EMI domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    B0QYK5
    Related
    ENSP00000384452.3, ENST00000404820.7
    Conserved Domains (2) summary
    pfam01391
    Location:335370
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  5. XM_011529871.3XP_011528173.1  EMI domain-containing protein 1 isoform X5

    Conserved Domains (2) summary
    pfam01391
    Location:324359
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  6. XM_005261329.3XP_005261386.1  EMI domain-containing protein 1 isoform X8

    Conserved Domains (2) summary
    pfam01391
    Location:307342
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  7. XM_011529872.3XP_011528174.1  EMI domain-containing protein 1 isoform X6

    Conserved Domains (2) summary
    pfam01391
    Location:352387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  8. XM_011529873.3XP_011528175.1  EMI domain-containing protein 1 isoform X7

    Conserved Domains (2) summary
    pfam01391
    Location:352387
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:35100
    EMI; EMI domain
  9. XM_017028589.1XP_016884078.1  EMI domain-containing protein 1 isoform X9

    Conserved Domains (2) summary
    pfam01391
    Location:287322
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:635
    EMI; EMI domain
  10. XM_011529874.2XP_011528176.1  EMI domain-containing protein 1 isoform X9

    Conserved Domains (2) summary
    pfam01391
    Location:287322
    Collagen; Collagen triple helix repeat (20 copies)
    pfam07546
    Location:635
    EMI; EMI domain
  11. XM_011529875.2XP_011528177.1  EMI domain-containing protein 1 isoform X10

  12. XM_011529876.1XP_011528178.1  EMI domain-containing protein 1 isoform X11

    Conserved Domains (1) summary
    pfam01391
    Location:173208
    Collagen; Collagen triple helix repeat (20 copies)

RNA

  1. XR_937808.3 RNA Sequence

  2. XR_937809.3 RNA Sequence

  3. XR_937810.3 RNA Sequence

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