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Protein

EMI domain-containing protein 1

Gene

EMID1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167049-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
EMI domain-containing protein 1
Alternative name(s):
Emilin and multimerin domain-containing protein 1
Short name:
Emu1
Gene namesi
Name:EMID1
Synonyms:EMU1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:18036. EMID1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi129080.
OpenTargetsiENSG00000186998.
PharmGKBiPA134921314.

Polymorphism and mutation databases

BioMutaiEMID1.
DMDMi37537826.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000782323 – 441EMI domain-containing protein 1Add BLAST419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi37 ↔ 96PROSITE-ProRule annotation
Glycosylationi51N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi62 ↔ 68PROSITE-ProRule annotation
Disulfide bondi95 ↔ 104PROSITE-ProRule annotation
Glycosylationi136N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96A84.
PeptideAtlasiQ96A84.
PRIDEiQ96A84.

Expressioni

Gene expression databases

BgeeiENSG00000186998.
CleanExiHS_EMID1.
ExpressionAtlasiQ96A84. baseline and differential.
GenevisibleiQ96A84. HS.

Organism-specific databases

HPAiHPA000592.

Interactioni

Subunit structurei

Homo- or heteromers.

Protein-protein interaction databases

BioGridi126183. 7 interactors.
IntActiQ96A84. 2 interactors.
STRINGi9606.ENSP00000335481.

Structurei

3D structure databases

ProteinModelPortaliQ96A84.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 106EMIPROSITE-ProRule annotationAdd BLAST74
Domaini179 – 368Collagen-likeAdd BLAST190

Sequence similaritiesi

Contains 1 collagen-like domain.Curated
Contains 1 EMI domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Signal

Phylogenomic databases

eggNOGiENOG410IXT5. Eukaryota.
ENOG4111G7V. LUCA.
GeneTreeiENSGT00660000095314.
HOGENOMiHOG000038011.
HOVERGENiHBG051472.
InParanoidiQ96A84.
PhylomeDBiQ96A84.
TreeFamiTF336589.

Family and domain databases

InterProiIPR008160. Collagen.
IPR011489. EMI_domain.
[Graphical view]
PfamiPF01391. Collagen. 3 hits.
PF07546. EMI. 1 hit.
[Graphical view]
PROSITEiPS51041. EMI. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96A84-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGGPRAWALL CLGLLLPGGG AAWSIGAAPF SGRRNWCSYV VTRTISCHVQ
60 70 80 90 100
NGTYLQRVLQ NCPWPMSCPG SSYRTVVRPT YKVMYKIVTA REWRCCPGHS
110 120 130 140 150
GVSCEEASSA SLEPMWSGST MRRMALRPTA FSGCLNCSKV SELTERLKVL
160 170 180 190 200
EAKMTMLTVI EQPVPPTPAT PEDPAPLWGP PPAQGSPGDG GLQDQVGAWG
210 220 230 240 250
LPGPTGPKGD AGSRGPMGMR GPPGPQGPPG SPGRAGAVGT PGERGPPGPP
260 270 280 290 300
GPPGPPGPPA PVGPPHARIS QHGDPLLSNT FTETNNHWPQ GPTGPPGPPG
310 320 330 340 350
PMGPPGPPGP TGVPGSPGHI GPPGPTGPKG ISGHPGEKGE RGLRGEPGPQ
360 370 380 390 400
GSAGQRGEPG PKGDPGEKSH WGEGLHQLRE ALKILAERVL ILETMIGLYE
410 420 430 440
PELGSGAGPA GTGTPSLLRG KRGGHATNYR IVAPRSRDER G
Length:441
Mass (Da):45,292
Last modified:December 1, 2001 - v1
Checksum:i676D491C4083E18E
GO
Isoform 2 (identifier: Q96A84-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-73: Missing.

Note: May be due to a competing acceptor splice site.
Show »
Length:439
Mass (Da):45,042
Checksum:i7031515BF121D13C
GO
Isoform 3 (identifier: Q96A84-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-106: E → EVA

Note: May be due to a competing acceptor splice site.
Show »
Length:443
Mass (Da):45,463
Checksum:iF3588C50456978A2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019803107A → G.1 PublicationCorresponds to variant rs743920dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00844572 – 73Missing in isoform 2. 1 Publication2
Alternative sequenceiVSP_011824106E → EVA in isoform 3. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ416090 mRNA. Translation: CAC94777.1.
CH471095 Genomic DNA. Translation: EAW59776.1.
Z95116, AL031186 Genomic DNA. Translation: CAQ08615.1.
AL031186, Z95116 Genomic DNA. Translation: CAQ10945.1.
BC046358 mRNA. Translation: AAH46358.1.
CR456407 mRNA. Translation: CAG30293.1.
CCDSiCCDS33630.1. [Q96A84-3]
RefSeqiNP_001254824.1. NM_001267895.1. [Q96A84-1]
NP_597712.2. NM_133455.3. [Q96A84-3]
UniGeneiHs.289106.

Genome annotation databases

EnsembliENST00000334018; ENSP00000335481; ENSG00000186998. [Q96A84-3]
GeneIDi129080.
KEGGihsa:129080.
UCSCiuc003aem.5. human. [Q96A84-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ416090 mRNA. Translation: CAC94777.1.
CH471095 Genomic DNA. Translation: EAW59776.1.
Z95116, AL031186 Genomic DNA. Translation: CAQ08615.1.
AL031186, Z95116 Genomic DNA. Translation: CAQ10945.1.
BC046358 mRNA. Translation: AAH46358.1.
CR456407 mRNA. Translation: CAG30293.1.
CCDSiCCDS33630.1. [Q96A84-3]
RefSeqiNP_001254824.1. NM_001267895.1. [Q96A84-1]
NP_597712.2. NM_133455.3. [Q96A84-3]
UniGeneiHs.289106.

3D structure databases

ProteinModelPortaliQ96A84.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126183. 7 interactors.
IntActiQ96A84. 2 interactors.
STRINGi9606.ENSP00000335481.

Polymorphism and mutation databases

BioMutaiEMID1.
DMDMi37537826.

Proteomic databases

PaxDbiQ96A84.
PeptideAtlasiQ96A84.
PRIDEiQ96A84.

Protocols and materials databases

DNASUi129080.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334018; ENSP00000335481; ENSG00000186998. [Q96A84-3]
GeneIDi129080.
KEGGihsa:129080.
UCSCiuc003aem.5. human. [Q96A84-1]

Organism-specific databases

CTDi129080.
DisGeNETi129080.
GeneCardsiEMID1.
HGNCiHGNC:18036. EMID1.
HPAiHPA000592.
MIMi608926. gene.
neXtProtiNX_Q96A84.
OpenTargetsiENSG00000186998.
PharmGKBiPA134921314.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXT5. Eukaryota.
ENOG4111G7V. LUCA.
GeneTreeiENSGT00660000095314.
HOGENOMiHOG000038011.
HOVERGENiHBG051472.
InParanoidiQ96A84.
PhylomeDBiQ96A84.
TreeFamiTF336589.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167049-MONOMER.

Miscellaneous databases

GenomeRNAii129080.
PROiQ96A84.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186998.
CleanExiHS_EMID1.
ExpressionAtlasiQ96A84. baseline and differential.
GenevisibleiQ96A84. HS.

Family and domain databases

InterProiIPR008160. Collagen.
IPR011489. EMI_domain.
[Graphical view]
PfamiPF01391. Collagen. 3 hits.
PF07546. EMI. 1 hit.
[Graphical view]
PROSITEiPS51041. EMI. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEMID1_HUMAN
AccessioniPrimary (citable) accession number: Q96A84
Secondary accession number(s): B0QYK6, Q6ICG1, Q86SS7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.