MALRD1
MAM and LDL-receptor class A domain-containing protein 1
Also known as: bA265G8.2, C10orf112, Diet1, MALR1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5VYJ5
- Gene
- MALRD1
- Ensembl
- ENSG00000204740
- Chromosome
- 10
- Canonical length
- 2156 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Golgi apparatus
OverviewNCBI Gene
This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017]
Canonical amino-acid sequenceUniProt
2156 residues, UniProt reviewed canonical sequence.
>Q5VYJ5|MALRD1
1 MLFFLDRMLA FPMNETFCCL WIACVFNSTL AQQGTESFQC DNGVSLPPDS ICDFTDQCGD
61 SSDERHCLNY ERCDFEDGLC HMTQDQSLQP SWTKRSGMIG LSPPFYDHNG DVSAHFLSLV
121 SRVDSISSSL RSRVFLPTND QHDCQITFYY FSCQVSGKLM VGLQTACGGP IQHLWQNTAA
181 LPNQWERNVI KIQSSQRFQV VFEGQMASTY EQDEVIAIDD ISFSSGCLPA NDGILLCQEA
241 LNAERELCHP DTDLCRFDAT DEELRLCQAC GFEFDMCEWT SEASAGQISW MRTKAREIPA
301 FESTPQQDQG GDDEGYYVWV GAKHGFTLNH LDSRAYLNSS VCHCLGKSCH LQFYYAMESS
361 VLRVRLYNNK EEEIFWTYNI STHSQWVKAD VLIPEDLKTF KIIFEGTLLS QRSFIALDHL
421 WVYACGQTQS RKLCSADEFP CTSGQCIAKE SVCDSRQDCS DESDEDPATC SKHLTCDFES
481 GFCGWEPFLT EDSHWKLMKG LNNGEHHFPA ADHTANINHG SFIYLEAQRS PGVAKLGSPV
541 LTKLLTASTP CQVQFWYHLS QHSNLSVFTR TSLDGNLQKQ GKIIRFSESQ WSHAKIDLIA
601 EAGESTLPFQ LILEATVLSS NATVALDDIS VSQECEISYK SLPRTSTQSK FSKCDFEANS
661 CDWFEAISGD HFDWIRSSQS ELSADFEHQA PPRDHSLNAS QGHFMFILKK SSSLWQVAKL
721 QSPTFSQTGP GCILSFWFYN YGLSVGAAEL QLHMENSHDS TVIWRVLYNQ GKQWLEATIQ
781 LGRLSQPFHL SLDKVSLGIY DGVSAIDDIR FENCTLPLPA ESCEGLDHFW CRHTRACIEK
841 LRLCDLVDDC GDRTDEVNCA PELQCNFETG ICNWEQDAKD DFDWTRSQGP TPTLNTGPMK
901 DNTLGTAKGH YLYIESSEPQ AFQDSAALLS PILNATDTKG CTFRFYYHMF GKRIYRLAIY
961 QRIWSDSRGQ LLWQIFGNQG NRWIRKHLNI SSRQPFQILV EASVGDGFTG DIAIDDLSFM
1021 DCTLYPGNLP ADLPTPPETS VPVTLPPHNC TDNEFICRSD GHCIEKMQKC DFKYDCPDKS
1081 DEASCVMEVC SFEKRSLCKW YQPIPVHLLQ DSNTFRWGLG NGISIHHGEE NHRPSVDHTQ
1141 NTTDGWYLYA DSSNGKFGDT ADILTPIISL TGPKCTLVFW THMNGATVGS LQVLIKKDNV
1201 TSKLWAQTGQ QGAQWKRAEV FLGIRSHTQI VFRAKRGISY IGDVAVDDIS FQDCSPLLSP
1261 ERKCTDHEFM CANKHCIAKD KLCDFVNDCA DNSDETTFIC RTSSGRCDFE FDLCSWKQEK
1321 DEDFDWNLKA SSIPAAGTEP AADHTLGNSS GHYIFIKSLF PQQPMRAARI SSPVISKRSK
1381 NCKIIFHYHM YGNGIGALTL MQVSVTNQTK VLLNLTVEQG NFWRREELSL FGDEDFQLKF
1441 EGRVGKGQRG DIALDDIVLT ENCLSLHDSV QEELAVPLPT GFCPLGYREC HNGKCYRLEQ
1501 SCNFVDNCGD NTDENECGSS CTFEKGWCGW QNSQADNFDW VLGVGSHQSL RPPKDHTLGN
1561 ENGHFMYLEA TAVGLRGDKA HFRSTMWRES SAACTMSFWY FVSAKATGSI QILIKTEKGL
1621 SKVWQESKQN PGNHWQKADI LLGKLRNFEV IFQGIRTRDL GGGAAIDDIE FKNCTTVGEI
1681 SELCPEITDF LCRDKKCIAS HLLCDYKPDC SDRSDEAHCA HYTSTTGSCN FETSSGNWTT
1741 ACSLTQDSED DLDWAIGSRI PAKALIPDSD HTPGSGQHFL YVNSSGSKEG SVARITTSKS
1801 FPASLGMCTV RFWFYMIDPR SMGILKVYTI EESGLNILVW SVIGNKRTGW TYGSVPLSSN
1861 SPFKVAFEAD LDGNEDIFIA LDDISFTPEC VTGGPVPVQP SPCEADQFSC IYTLQCVPLS
1921 GKCDGHEDCI DGSDEMDCPL SPTPPLCSNM EFPCSTDECI PSLLLCDGVP DCHFNEDELI
1981 CSNKSCSNGA LVCASSNSCI PAHQRCDGFA DCMDFQLDES SCSECPLNYC RNGGTCVVEK
2041 NGPMCRCRQG WKGNRCHIKF NPPATDFTYA QNNTWTLLGI GLAFLMTHIT VAVLCFLANR
2101 KVPIRKTEGS GNCAFVNPVY GNWSNPEKTE SSVYSFSNPL YGTTSGSLET LSHHLKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MALRD1 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 29 nTPM
- duodenum: 29 nTPM
- epididymis: 2.1 nTPM
- testis: 2 nTPM
- thymus: 1.7 nTPM
- kidney: 1.4 nTPM
Single-cell type
- enterocytes: 927 nCPM
- paneth cells: 924 nCPM
- enteric stem cells: 350 nCPM
- enteric transient amplifying cells: 297 nCPM
- goblet cells: 221 nCPM
- sertoli cells: 181 nCPM
Immune cell
- plasmacytoid DC: 0.9 nTPM
- myeloid DC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- hypothalamus: 3.8 nTPM
- amygdala: 3.4 nTPM
- basal ganglia: 3.3 nTPM
- hippocampal formation: 3.3 nTPM
- midbrain: 3.1 nTPM
- spinal cord: 3 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)
- 0.85
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.3
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- EGF-like domain
- MAM domain
- Low-density lipoprotein (LDL) receptor class A repeat
- Concanavalin A-like lectin/glucanase domain superfamily
- Low-density lipoprotein (LDL) receptor class A, conserved site
- LDL receptor-like superfamily
- MAM domain-containing protein
- EGF-like domain
- Low-density lipoprotein receptor domain class A
- MAM domain, meprin/A5/mu
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MALRD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MALRD1 as an antibody target. Whether an autoantibody or antibody against MALRD1 could matter depends on whether native MALRD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MALRD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MALRD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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