EMID1_HUMAN
ID EMID1_HUMAN Reviewed; 441 AA.
AC Q96A84; B0QYK6; Q6ICG1; Q86SS7;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=EMI domain-containing protein 1;
DE AltName: Full=Emilin and multimerin domain-containing protein 1;
DE Short=Emu1;
DE Flags: Precursor;
GN Name=EMID1; Synonyms=EMU1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RX PubMed=12221002; DOI=10.1006/dbio.2002.0764;
RA Leimeister C., Steidl C., Schumacher N., Erhard S., Gessler M.;
RT "Developmental expression and biochemical characterization of Emu family
RT members.";
RL Dev. Biol. 249:204-218(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT GLY-107.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBUNIT: Homo- or heteromers.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96A84-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96A84-2; Sequence=VSP_008445;
CC Name=3;
CC IsoId=Q96A84-3; Sequence=VSP_011824;
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to a competing acceptor splice
CC site. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to a competing acceptor splice
CC site. {ECO:0000305}.
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DR EMBL; AJ416090; CAC94777.1; -; mRNA.
DR EMBL; CH471095; EAW59776.1; -; Genomic_DNA.
DR EMBL; AL031186; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z95116; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC046358; AAH46358.1; -; mRNA.
DR EMBL; CR456407; CAG30293.1; -; mRNA.
DR CCDS; CCDS33630.1; -. [Q96A84-3]
DR RefSeq; NP_001254824.1; NM_001267895.1. [Q96A84-1]
DR RefSeq; NP_597712.2; NM_133455.3. [Q96A84-3]
DR AlphaFoldDB; Q96A84; -.
DR BioGRID; 126183; 37.
DR IntAct; Q96A84; 6.
DR STRING; 9606.ENSP00000335481; -.
DR GlyGen; Q96A84; 2 sites.
DR iPTMnet; Q96A84; -.
DR PhosphoSitePlus; Q96A84; -.
DR BioMuta; EMID1; -.
DR DMDM; 37537826; -.
DR MassIVE; Q96A84; -.
DR PaxDb; Q96A84; -.
DR PeptideAtlas; Q96A84; -.
DR PRIDE; Q96A84; -.
DR ProteomicsDB; 75935; -. [Q96A84-1]
DR ProteomicsDB; 75936; -. [Q96A84-2]
DR ProteomicsDB; 75937; -. [Q96A84-3]
DR Antibodypedia; 248; 94 antibodies from 21 providers.
DR DNASU; 129080; -.
DR Ensembl; ENST00000334018.11; ENSP00000335481.6; ENSG00000186998.16. [Q96A84-3]
DR GeneID; 129080; -.
DR KEGG; hsa:129080; -.
DR MANE-Select; ENST00000334018.11; ENSP00000335481.6; NM_133455.4; NP_597712.2. [Q96A84-3]
DR UCSC; uc003aem.5; human. [Q96A84-1]
DR CTD; 129080; -.
DR DisGeNET; 129080; -.
DR GeneCards; EMID1; -.
DR HGNC; HGNC:18036; EMID1.
DR HPA; ENSG00000186998; Tissue enhanced (brain, lymphoid tissue).
DR MIM; 608926; gene.
DR neXtProt; NX_Q96A84; -.
DR OpenTargets; ENSG00000186998; -.
DR PharmGKB; PA134921314; -.
DR VEuPathDB; HostDB:ENSG00000186998; -.
DR eggNOG; ENOG502QSR5; Eukaryota.
DR GeneTree; ENSGT00940000161542; -.
DR HOGENOM; CLU_045268_0_0_1; -.
DR InParanoid; Q96A84; -.
DR OMA; FVEPRWS; -.
DR OrthoDB; 1205089at2759; -.
DR PhylomeDB; Q96A84; -.
DR TreeFam; TF336589; -.
DR PathwayCommons; Q96A84; -.
DR SignaLink; Q96A84; -.
DR BioGRID-ORCS; 129080; 14 hits in 1078 CRISPR screens.
DR ChiTaRS; EMID1; human.
DR GenomeRNAi; 129080; -.
DR Pharos; Q96A84; Tbio.
DR PRO; PR:Q96A84; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q96A84; protein.
DR Bgee; ENSG00000186998; Expressed in ventricular zone and 133 other tissues.
DR ExpressionAtlas; Q96A84; baseline and differential.
DR Genevisible; Q96A84; HS.
DR GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl.
DR GO; GO:0031012; C:extracellular matrix; IEA:Ensembl.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl.
DR InterPro; IPR008160; Collagen.
DR InterPro; IPR011489; EMI_domain.
DR Pfam; PF01391; Collagen; 3.
DR Pfam; PF07546; EMI; 1.
DR PROSITE; PS51041; EMI; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Collagen; Disulfide bond; Extracellular matrix;
KW Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..441
FT /note="EMI domain-containing protein 1"
FT /id="PRO_0000007823"
FT DOMAIN 33..106
FT /note="EMI"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00384"
FT DOMAIN 179..368
FT /note="Collagen-like"
FT REGION 162..371
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 405..441
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 164..183
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 243..265
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 273..290
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 291..324
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 51
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 136
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 37..96
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00384"
FT DISULFID 62..68
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00384"
FT DISULFID 95..104
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00384"
FT VAR_SEQ 72..73
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12221002"
FT /id="VSP_008445"
FT VAR_SEQ 106
FT /note="E -> EVA (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15461802,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_011824"
FT VARIANT 107
FT /note="A -> G (in dbSNP:rs743920)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_019803"
SQ SEQUENCE 441 AA; 45292 MW; 676D491C4083E18E CRC64;
MGGPRAWALL CLGLLLPGGG AAWSIGAAPF SGRRNWCSYV VTRTISCHVQ NGTYLQRVLQ
NCPWPMSCPG SSYRTVVRPT YKVMYKIVTA REWRCCPGHS GVSCEEASSA SLEPMWSGST
MRRMALRPTA FSGCLNCSKV SELTERLKVL EAKMTMLTVI EQPVPPTPAT PEDPAPLWGP
PPAQGSPGDG GLQDQVGAWG LPGPTGPKGD AGSRGPMGMR GPPGPQGPPG SPGRAGAVGT
PGERGPPGPP GPPGPPGPPA PVGPPHARIS QHGDPLLSNT FTETNNHWPQ GPTGPPGPPG
PMGPPGPPGP TGVPGSPGHI GPPGPTGPKG ISGHPGEKGE RGLRGEPGPQ GSAGQRGEPG
PKGDPGEKSH WGEGLHQLRE ALKILAERVL ILETMIGLYE PELGSGAGPA GTGTPSLLRG
KRGGHATNYR IVAPRSRDER G
