Q9H8L6 (MMRN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Multimerin-2

Alternative name(s):
EMILIN-3
Elastin microfibril interface located protein 3
Short name=Elastin microfibril interfacer 3
EndoGlyx-1 p125/p140 subunit

Gene names

Name:	MMRN2
Synonyms:	EMILIN3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	949 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Heteromer of p110, p125, p140 and p200 subunits; disulfide-linked. Ref.1
Subcellular location	Secreted › extracellular space › extracellular matrix Ref.1.
Tissue specificity	Endothelium. Ref.1
Post-translational modification	N- and O-glycosylated. Ref.5
Sequence similarities	Contains 1 C1q domain. Contains 1 EMI domain.

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Domain	Coiled coil Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	extracellular space Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22	Potential
	Chain	23 – 949	927	Multimerin-2		PRO_0000007822
Regions
	Domain	54 – 132	79	EMI
	Domain	821 – 949	129	C1q
	Coiled coil	167 – 187	21	Potential
	Coiled coil	292 – 487	196	Potential
	Coiled coil	547 – 596	50	Potential
	Coiled coil	688 – 711	24	Potential
	Compositional bias	779 – 806	28	Arg/Asp/Glu/Lys-rich (highly charged)
Amino acid modifications
	Glycosylation	205	1	N-linked (GlcNAc...) Potential
	Glycosylation	214	1	N-linked (GlcNAc...) Potential
	Glycosylation	249	1	N-linked (GlcNAc...) Potential
	Glycosylation	261	1	N-linked (GlcNAc...) Potential
	Glycosylation	350	1	N-linked (GlcNAc...) Potential
	Glycosylation	379	1	N-linked (GlcNAc...) Potential
	Glycosylation	439	1	N-linked (GlcNAc...) Potential
	Glycosylation	472	1	N-linked (GlcNAc...) Potential
	Glycosylation	727	1	N-linked (GlcNAc...) Potential
	Glycosylation	765	1	N-linked (GlcNAc...) Potential
	Glycosylation	845	1	N-linked (GlcNAc...) Ref.5
	Disulfide bond	58 ↔ 122		By similarity
	Disulfide bond	85 ↔ 92		By similarity
	Disulfide bond	121 ↔ 130		By similarity
Natural variations
	Natural variant	49	1	G → S. Ref.1 Corresponds to variant rs3750823 [ dbSNP | Ensembl ].		VAR_019801
	Natural variant	448	1	V → M in a colorectal cancer sample; somatic mutation. Ref.6		VAR_036362
	Natural variant	731	1	H → D. Ref.1 Ref.4 Corresponds to variant rs4934281 [ dbSNP | Ensembl ].		VAR_019802
	Natural variant	831	1	S → R. Corresponds to variant rs36073867 [ dbSNP | Ensembl ].		VAR_053076
	Natural variant	910	1	V → L. Corresponds to variant rs34587013 [ dbSNP | Ensembl ].		VAR_053077
Experimental info
	Sequence conflict	270	1	R → H in AAH64415. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q9H8L6 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: E4F173CF6A01FA08	FASTA	949	104,409
	10 20 30 40 50 60 MILSLLFSLG GPLGWGLLGA WAQASSTSLS DLQSSRTPGV WKAEAEDTGK DPVGRNWCPY 70 80 90 100 110 120 PMSKLVTLLA LCKTEKFLIH SQQPCPQGAP DCQKVKVMYR MAHKPVYQVK QKVLTSLAWR 130 140 150 160 170 180 CCPGYTGPNC EHHDSMAIPE PADPGDSHQE PQDGPVSFKP GHLAAVINEV EVQQEQQEHL 190 200 210 220 230 240 LGDLQNDVHR VADSLPGLWK ALPGNLTAAV MEANQTGHEF PDRSLEQVLL PHVDTFLQVH 250 260 270 280 290 300 FSPIWRSFNQ SLHSLTQAIR NLSLDVEANR QAISRVQDSA VARADFQELG AKFEAKVQEN 310 320 330 340 350 360 TQRVGQLRQD VEDRLHAQHF TLHRSISELQ ADVDTKLKRL HKAQEAPGTN GSLVLATPGA 370 380 390 400 410 420 GARPEPDSLQ ARLGQLQRNL SELHMTTARR EEELQYTLED MRATLTRHVD EIKELYSESD 430 440 450 460 470 480 ETFDQISKVE RQVEELQVNH TALRELRVIL MEKSLIMEEN KEEVERQLLE LNLTLQHLQG 490 500 510 520 530 540 GHADLIKYVK DCNCQKLYLD LDVIREGQRD ATRALEETQV SLDERRQLDG SSLQALQNAV 550 560 570 580 590 600 DAVSLAVDAH KAEGERARAA TSRLRSQVQA LDDEVGALKA AAAEARHEVR QLHSAFAALL 610 620 630 640 650 660 EDALRHEAVL AALFGEEVLE EMSEQTPGPL PLSYEQIRVA LQDAASGLQE QALGWDELAA 670 680 690 700 710 720 RVTALEQASE PPRPAEHLEP SHDAGREEAA TTALAGLARE LQSLSNDVKN VGRCCEAEAG 730 740 750 760 770 780 AGAASLNASL HGLHNALFAT QRSLEQHQRL FHSLFGNFQG LMEANVSLDL GKLQTMLSRK 790 800 810 820 830 840 GKKQQKDLEA PRKRDKKEAE PLVDIRVTGP VPGALGAALW EAGSPVAFYA SFSEGTAALQ 850 860 870 880 890 900 TVKFNTTYIN IGSSYFPEHG YFRAPERGVY LFAVSVEFGP GPGTGQLVFG GHHRTPVCTT 910 920 930 940 GQGSGSTATV FAMAELQKGE RVWFELTQGS ITKRSLSGTA FGGFLMFKT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of EndoGlyx-1, an EMILIN-like multisubunit glycoprotein of vascular endothelium." Christian S., Ahorn H., Novatchkova M., Garin-Chesa P., Park J.E., Weber G., Eisenhaber F., Rettig W.J., Lenter M.C. J. Biol. Chem. 276:48588-48595(2001) [PubMed: 11559704] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MASS SPECTROMETRY, VARIANTS SER-49 AND ASP-731.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[3]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-731. Tissue: Placenta.
[5]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-845, MASS SPECTROMETRY. Tissue: Plasma.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-448.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK023527 mRNA. Translation: BAB14599.1. AC025268 Genomic DNA. No translation available. BC064415 mRNA. Translation: AAH64415.1. BC094744 mRNA. Translation: AAH94744.1.
IPI	IPI00015525.
RefSeq	NP_079032.2. NM_024756.2.
UniGene	Hs.524479.
3D structure databases
ProteinModelPortal	Q9H8L6.
SMR	Q9H8L6. Positions 822-949.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H8L6. 2 interactions.
MINT	MINT-6768987.
STRING	Q9H8L6.
Polymorphism databases
DMDM	296437373.
Proteomic databases
PRIDE	Q9H8L6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372027; ENSP00000361097; ENSG00000173269.
GeneID	79812.
KEGG	hsa:79812.
UCSC	uc001kea.1. human.
Organism-specific databases
CTD	79812.
GeneCards	GC10M088685.
H-InvDB	HIX0008998.
HGNC	HGNC:19888. MMRN2.
HPA	HPA020741.
MIM	608925. gene.
neXtProt	NX_Q9H8L6.
PharmGKB	PA134991578.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13571.
GeneTree	ENSGT00530000063850.
HOGENOM	HBG282391.
HOVERGEN	HBG052486.
InParanoid	Q9H8L6.
OMA	FNTTYIN.
OrthoDB	EOG4QZ7K7.
PhylomeDB	Q9H8L6.
Gene expression databases
ArrayExpress	Q9H8L6.
Bgee	Q9H8L6.
CleanEx	HS_EMILIN3. HS_MMRN2.
Genevestigator	Q9H8L6.
GermOnline	ENSG00000173269. Homo sapiens.
Family and domain databases
InterPro	IPR001073. C1q. IPR011489. EMI_domain. IPR008983. Tumour_necrosis_fac-like. [Graphical view]
Gene3D	G3DSA:2.60.120.40. Tumour_necrosis_fac-like. 1 hit.
Pfam	PF00386. C1q. 1 hit. PF07546. EMI. 1 hit. [Graphical view]
PRINTS	PR00007. COMPLEMNTC1Q.
SUPFAM	SSF49842. TNF_like. 1 hit.
PROSITE	PS50871. C1Q. 1 hit. PS51041. EMI. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	69406.
SOURCE	Search...

Entry information

Entry name

MMRN2_HUMAN

Accession

Primary (citable) accession number: Q9H8L6
Secondary accession number(s): Q504V7, Q6P2N2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2003
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 90 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.