Seroatlas · Human Serome Atlas

MMRN1

Multimerin-1

Also known as: ECM, EMILIN4, GPIa*, MMRN, MMRN1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q13201
Gene: MMRN1
Ensembl: ENSG00000138722
Chromosome: 4
Canonical length: 1228 aa
Protein class: Disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Endoplasmic reticulum
Secretome location: Secreted to extracellular matrix
Quaternary structure: Homotrimer

OverviewNCBI Gene

Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1228 residues, UniProt reviewed canonical sequence.

>Q13201|MMRN1
     1  MKGARLFVLL SSLWSGGIGL NNSKHSWTIP EDGNSQKTMP SASVPPNKIQ SLQILPTTRV
    61  MSAEIATTPE ARTSEDSLLK STLPPSETSA PAEGVRNQTL TSTEKAEGVV KLQNLTLPTN
   121  ASIKFNPGAE SVVLSNSTLK FLQSFARKSN EQATSLNTVG GTGGIGGVGG TGGVGNRAPR
   181  ETYLSRGDSS SSQRTDYQKS NFETTRGKNW CAYVHTRLSP TVILDNQVTY VPGGKGPCGW
   241  TGGSCPQRSQ KISNPVYRMQ HKIVTSLDWR CCPGYSGPKC QLRAQEQQSL IHTNQAESHT
   301  AVGRGVAEQQ QQQGCGDPEV MQKMTDQVNY QAMKLTLLQK KIDNISLTVN DVRNTYSSLE
   361  GKVSEDKSRE FQSLLKGLKS KSINVLIRDI VREQFKIFQN DMQETVAQLF KTVSSLSEDL
   421  ESTRQIIQKV NESVVSIAAQ QKFVLVQENR PTLTDIVELR NHIVNVRQEM TLTCEKPIKE
   481  LEVKQTHLEG ALEQEHSRSI LYYESLNKTL SKLKEVHEQL LSTEQVSDQK NAPAAESVSN
   541  NVTEYMSTLH ENIKKQSLMM LQMFEDLHIQ ESKINNLTVS LEMEKESLRG ECEDMLSKCR
   601  NDFKFQLKDT EENLHVLNQT LAEVLFPMDN KMDKMSEQLN DLTYDMEILQ PLLEQGASLR
   661  QTMTYEQPKE AIVIRKKIEN LTSAVNSLNF IIKELTKRHN LLRNEVQGRD DALERRINEY
   721  ALEMEDGLNK TMTIINNAID FIQDNYALKE TLSTIKDNSE IHHKCTSDME TILTFIPQFH
   781  RLNDSIQTLV NDNQRYNFVL QVAKTLAGIP RDEKLNQSNF QKMYQMFNET TSQVRKYQQN
   841  MSHLEEKLLL TTKISKNFET RLQDIESKVT QTLIPYYISV KKGSVVTNER DQALQLQVLN
   901  SRFKALEAKS IHLSINFFSL NKTLHEVLTM CHNASTSVSE LNATIPKWIK HSLPDIQLLQ
   961  KGLTEFVEPI IQIKTQAALS NLTCCIDRSL PGSLANVVKS QKQVKSLPKK INALKKPTVN
  1021  LTTVLIGRTQ RNTDNIIYPE EYSSCSRHPC QNGGTCINGR TSFTCACRHP FTGDNCTIKL
  1081  VEENALAPDF SKGSYRYAPM VAFFASHTYG MTIPGPILFN NLDVNYGASY TPRTGKFRIP
  1141  YLGVYVFKYT IESFSAHISG FLVVDGIDKL AFESENINSE IHCDRVLTGD ALLELNYGQE
  1201  VWLRLAKGTI PAKFPPVTTF SGYLLYRT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MMRN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 38 nTPM

Expression across tissuesHPA

Tissue

placenta: 38 nTPM
cervix: 27 nTPM
breast: 26 nTPM
fallopian tube: 22 nTPM
thyroid gland: 22 nTPM
adipose tissue: 21 nTPM

Single-cell type

lymphatic endothelial cells: 2,483 nCPM
platelets: 429 nCPM
hematopoietic stem cells: 373 nCPM
megakaryocyte progenitors: 356 nCPM
megakaryocytes: 185 nCPM
vascular endothelial cells: 170 nCPM

Immune cell

NK-cell: 6.3 nTPM
plasmacytoid DC: 2.2 nTPM
total PBMC: 1.2 nTPM
naive B-cell: 0.4 nTPM
naive CD4 T-cell: 0.2 nTPM
T-reg: 0.2 nTPM

Brain region

hypothalamus: 2.8 nTPM
midbrain: 2.6 nTPM
choroid plexus: 2.4 nTPM
medulla oblongata: 2.2 nTPM
pons: 2 nTPM
spinal cord: 1.9 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.2
gnomAD pLI: 0
gnomAD missense Z: -1.1
DepMap mean gene effect: 0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

calcium ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MMRN1 as an antibody target. Whether an autoantibody or antibody against MMRN1 could matter depends on whether native MMRN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MMRN1 is annotated as secreted, so native MMRN1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label MMRN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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