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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

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

PharmGKBiPA134921314.

Polymorphism and mutation databases

BioMutaiEMID1.
DMDMi37537826.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence analysisAdd
BLAST
Chaini23 – 441419EMI domain-containing protein 1PRO_0000007823Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi37 ↔ 96PROSITE-ProRule annotation
Glycosylationi51 – 511N-linked (GlcNAc...)Sequence analysis
Disulfide bondi62 ↔ 68PROSITE-ProRule annotation
Disulfide bondi95 ↔ 104PROSITE-ProRule annotation
Glycosylationi136 – 1361N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96A84.
PeptideAtlasiQ96A84.
PRIDEiQ96A84.

Expressioni

Gene expression databases

BgeeiQ96A84.
CleanExiHS_EMID1.
ExpressionAtlasiQ96A84. baseline and differential.
GenevisibleiQ96A84. HS.

Organism-specific databases

HPAiHPA000592.

Interactioni

Subunit structurei

Homo- or heteromers.

Protein-protein interaction databases

BioGridi126183. 7 interactions.
IntActiQ96A84. 3 interactions.
STRINGi9606.ENSP00000335481.

Structurei

3D structure databases

ProteinModelPortaliQ96A84.
SMRiQ96A84. Positions 336-372.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini33 – 10674EMIPROSITE-ProRule annotationAdd
BLAST
Domaini179 – 368190Collagen-likeAdd
BLAST

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.
OrthoDBiEOG74R1RX.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071A → G.1 Publication
Corresponds to variant rs743920 [ dbSNP | Ensembl ].
VAR_019803

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei72 – 732Missing in isoform 2. 1 PublicationVSP_008445
Alternative sequencei106 – 1061E → EVA in isoform 3. 2 PublicationsVSP_011824

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.
SMRiQ96A84. Positions 336-372.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126183. 7 interactions.
IntActiQ96A84. 3 interactions.
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.
GeneCardsiEMID1.
HGNCiHGNC:18036. EMID1.
HPAiHPA000592.
MIMi608926. gene.
neXtProtiNX_Q96A84.
PharmGKBiPA134921314.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXT5. Eukaryota.
ENOG4111G7V. LUCA.
GeneTreeiENSGT00660000095314.
HOGENOMiHOG000038011.
HOVERGENiHBG051472.
InParanoidiQ96A84.
OrthoDBiEOG74R1RX.
PhylomeDBiQ96A84.
TreeFamiTF336589.

Miscellaneous databases

GenomeRNAii129080.
PROiQ96A84.
SOURCEiSearch...

Gene expression databases

BgeeiQ96A84.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Developmental expression and biochemical characterization of Emu family members."
    Leimeister C., Steidl C., Schumacher N., Erhard S., Gessler M.
    Dev. Biol. 249:204-218(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  3. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLY-107.
    Tissue: Brain.

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: July 6, 2016
This is version 109 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.