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Protein

MAM and LDL-receptor class A domain-containing protein 1

Gene

MALRD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis.1 Publication

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
MAM and LDL-receptor class A domain-containing protein 1Imported
Gene namesi
Name:MALRD1Imported
Synonyms:C10orf112Imported, DIET11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000204740.9.
HGNCiHGNC:24331. MALRD1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini32 – 2076VesicularCuratedAdd BLAST2045
Transmembranei2077 – 2097HelicalSequence analysisAdd BLAST21
Topological domaini2098 – 2156CytoplasmicCuratedAdd BLAST59

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi340895.
OpenTargetsiENSG00000204740.

Polymorphism and mutation databases

DMDMi259016361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000032896832 – 2156MAM and LDL-receptor class A domain-containing protein 1Add BLAST2125

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi40 ↔ 58PROSITE-ProRule annotation
Disulfide bondi52 ↔ 67PROSITE-ProRule annotation
Disulfide bondi434 ↔ 446PROSITE-ProRule annotation
Disulfide bondi441 ↔ 459PROSITE-ProRule annotation
Disulfide bondi453 ↔ 470PROSITE-ProRule annotation
Glycosylationi813N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi823 ↔ 837PROSITE-ProRule annotation
Disulfide bondi831 ↔ 850PROSITE-ProRule annotation
Disulfide bondi844 ↔ 859PROSITE-ProRule annotation
Glycosylationi1049N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1050 ↔ 1063PROSITE-ProRule annotation
Disulfide bondi1057 ↔ 1076PROSITE-ProRule annotation
Disulfide bondi1070 ↔ 1085PROSITE-ProRule annotation
Glycosylationi1199N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1264 ↔ 1276PROSITE-ProRule annotation
Disulfide bondi1271 ↔ 1289PROSITE-ProRule annotation
Disulfide bondi1283 ↔ 1300PROSITE-ProRule annotation
Glycosylationi1414N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1483 ↔ 1495PROSITE-ProRule annotation
Disulfide bondi1490 ↔ 1508PROSITE-ProRule annotation
Disulfide bondi1502 ↔ 1517PROSITE-ProRule annotation
Disulfide bondi1684 ↔ 1697PROSITE-ProRule annotation
Disulfide bondi1692 ↔ 1710PROSITE-ProRule annotation
Disulfide bondi1704 ↔ 1719PROSITE-ProRule annotation
Disulfide bondi1903 ↔ 1916PROSITE-ProRule annotation
Disulfide bondi1910 ↔ 1929PROSITE-ProRule annotation
Disulfide bondi1923 ↔ 1938PROSITE-ProRule annotation
Disulfide bondi1947 ↔ 1959PROSITE-ProRule annotation
Disulfide bondi1954 ↔ 1972PROSITE-ProRule annotation
Disulfide bondi1966 ↔ 1981PROSITE-ProRule annotation
Disulfide bondi1986 ↔ 1999PROSITE-ProRule annotation
Disulfide bondi1993 ↔ 2012PROSITE-ProRule annotation
Disulfide bondi2006 ↔ 2022PROSITE-ProRule annotation
Disulfide bondi2025 ↔ 2036PROSITE-ProRule annotation
Disulfide bondi2030 ↔ 2045PROSITE-ProRule annotation
Disulfide bondi2047 ↔ 2056PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ5VYJ5.
PaxDbiQ5VYJ5.
PeptideAtlasiQ5VYJ5.
PRIDEiQ5VYJ5.

PTM databases

iPTMnetiQ5VYJ5.
PhosphoSitePlusiQ5VYJ5.

Expressioni

Tissue specificityi

Strongly expressed in the small intestine.1 Publication

Gene expression databases

BgeeiENSG00000204740.
ExpressionAtlasiQ5VYJ5. baseline and differential.
GenevisibleiQ5VYJ5. HS.

Organism-specific databases

HPAiHPA035732.
HPA038106.
HPA046848.

Interactioni

Subunit structurei

Interacts with FGF19.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000366477.

Structurei

3D structure databases

ProteinModelPortaliQ5VYJ5.
SMRiQ5VYJ5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 68LDL-receptor class A 1PROSITE-ProRule annotationAdd BLAST36
Domaini71 – 229MAM 1PROSITE-ProRule annotationAdd BLAST159
Domaini268 – 427MAM 2PROSITE-ProRule annotationAdd BLAST160
Domaini433 – 471LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST39
Domaini474 – 637MAM 3PROSITE-ProRule annotationAdd BLAST164
Domaini652 – 816MAM 4PROSITE-ProRule annotationAdd BLAST165
Domaini822 – 860LDL-receptor class A 3PROSITE-ProRule annotationAdd BLAST39
Domaini863 – 1024MAM 5PROSITE-ProRule annotationAdd BLAST162
Domaini1049 – 1086LDL-receptor class A 4PROSITE-ProRule annotationAdd BLAST38
Domaini1088 – 1256MAM 6PROSITE-ProRule annotationAdd BLAST169
Domaini1263 – 1301LDL-receptor class A 5PROSITE-ProRule annotationAdd BLAST39
Domaini1305 – 1465MAM 7PROSITE-ProRule annotationAdd BLAST161
Domaini1482 – 1518LDL-receptor class A 6PROSITE-ProRule annotationAdd BLAST37
Domaini1519 – 1676MAM 8PROSITE-ProRule annotationAdd BLAST158
Domaini1683 – 1720LDL-receptor class A 7PROSITE-ProRule annotationAdd BLAST38
Domaini1727 – 1892MAM 9PROSITE-ProRule annotationAdd BLAST166
Domaini1902 – 1939LDL-receptor class A 8PROSITE-ProRule annotationAdd BLAST38
Domaini1946 – 1982LDL-receptor class A 9PROSITE-ProRule annotationAdd BLAST37
Domaini1985 – 2023LDL-receptor class A 10PROSITE-ProRule annotationAdd BLAST39
Domaini2024 – 2057EGF-likePROSITE-ProRule annotationAdd BLAST34

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGZP. Eukaryota.
ENOG410XPKY. LUCA.
GeneTreeiENSGT00720000108445.
HOGENOMiHOG000111706.
InParanoidiQ5VYJ5.
OMAiWYLYADS.
OrthoDBiEOG091G0056.
TreeFamiTF343455.

Family and domain databases

CDDicd00112. LDLa. 10 hits.
cd06263. MAM. 8 hits.
InterProiView protein in InterPro
IPR013320. ConA-like_dom_sf.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR036055. LDL_receptor-like_sf.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
IPR000998. MAM_dom.
PfamiView protein in Pfam
PF00008. EGF. 1 hit.
PF00057. Ldl_recept_a. 6 hits.
PF00629. MAM. 9 hits.
PRINTSiPR00261. LDLRECEPTOR.
PR00020. MAMDOMAIN.
SMARTiView protein in SMART
SM00181. EGF. 1 hit.
SM00192. LDLa. 10 hits.
SM00137. MAM. 9 hits.
SUPFAMiSSF49899. SSF49899. 9 hits.
SSF57424. SSF57424. 10 hits.
PROSITEiView protein in PROSITE
PS00022. EGF_1. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 1 hit.
PS01209. LDLRA_1. 6 hits.
PS50068. LDLRA_2. 8 hits.
PS50060. MAM_2. 6 hits.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q5VYJ5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLFFLDRMLA FPMNETFCCL WIACVFNSTL AQQGTESFQC DNGVSLPPDS
60 70 80 90 100
ICDFTDQCGD SSDERHCLNY ERCDFEDGLC HMTQDQSLQP SWTKRSGMIG
110 120 130 140 150
LSPPFYDHNG DVSAHFLSLV SRVDSISSSL RSRVFLPTND QHDCQITFYY
160 170 180 190 200
FSCQVSGKLM VGLQTACGGP IQHLWQNTAA LPNQWERNVI KIQSSQRFQV
210 220 230 240 250
VFEGQMASTY EQDEVIAIDD ISFSSGCLPA NDGILLCQEA LNAERELCHP
260 270 280 290 300
DTDLCRFDAT DEELRLCQAC GFEFDMCEWT SEASAGQISW MRTKAREIPA
310 320 330 340 350
FESTPQQDQG GDDEGYYVWV GAKHGFTLNH LDSRAYLNSS VCHCLGKSCH
360 370 380 390 400
LQFYYAMESS VLRVRLYNNK EEEIFWTYNI STHSQWVKAD VLIPEDLKTF
410 420 430 440 450
KIIFEGTLLS QRSFIALDHL WVYACGQTQS RKLCSADEFP CTSGQCIAKE
460 470 480 490 500
SVCDSRQDCS DESDEDPATC SKHLTCDFES GFCGWEPFLT EDSHWKLMKG
510 520 530 540 550
LNNGEHHFPA ADHTANINHG SFIYLEAQRS PGVAKLGSPV LTKLLTASTP
560 570 580 590 600
CQVQFWYHLS QHSNLSVFTR TSLDGNLQKQ GKIIRFSESQ WSHAKIDLIA
610 620 630 640 650
EAGESTLPFQ LILEATVLSS NATVALDDIS VSQECEISYK SLPRTSTQSK
660 670 680 690 700
FSKCDFEANS CDWFEAISGD HFDWIRSSQS ELSADFEHQA PPRDHSLNAS
710 720 730 740 750
QGHFMFILKK SSSLWQVAKL QSPTFSQTGP GCILSFWFYN YGLSVGAAEL
760 770 780 790 800
QLHMENSHDS TVIWRVLYNQ GKQWLEATIQ LGRLSQPFHL SLDKVSLGIY
810 820 830 840 850
DGVSAIDDIR FENCTLPLPA ESCEGLDHFW CRHTRACIEK LRLCDLVDDC
860 870 880 890 900
GDRTDEVNCA PELQCNFETG ICNWEQDAKD DFDWTRSQGP TPTLNTGPMK
910 920 930 940 950
DNTLGTAKGH YLYIESSEPQ AFQDSAALLS PILNATDTKG CTFRFYYHMF
960 970 980 990 1000
GKRIYRLAIY QRIWSDSRGQ LLWQIFGNQG NRWIRKHLNI SSRQPFQILV
1010 1020 1030 1040 1050
EASVGDGFTG DIAIDDLSFM DCTLYPGNLP ADLPTPPETS VPVTLPPHNC
1060 1070 1080 1090 1100
TDNEFICRSD GHCIEKMQKC DFKYDCPDKS DEASCVMEVC SFEKRSLCKW
1110 1120 1130 1140 1150
YQPIPVHLLQ DSNTFRWGLG NGISIHHGEE NHRPSVDHTQ NTTDGWYLYA
1160 1170 1180 1190 1200
DSSNGKFGDT ADILTPIISL TGPKCTLVFW THMNGATVGS LQVLIKKDNV
1210 1220 1230 1240 1250
TSKLWAQTGQ QGAQWKRAEV FLGIRSHTQI VFRAKRGISY IGDVAVDDIS
1260 1270 1280 1290 1300
FQDCSPLLSP ERKCTDHEFM CANKHCIAKD KLCDFVNDCA DNSDETTFIC
1310 1320 1330 1340 1350
RTSSGRCDFE FDLCSWKQEK DEDFDWNLKA SSIPAAGTEP AADHTLGNSS
1360 1370 1380 1390 1400
GHYIFIKSLF PQQPMRAARI SSPVISKRSK NCKIIFHYHM YGNGIGALTL
1410 1420 1430 1440 1450
MQVSVTNQTK VLLNLTVEQG NFWRREELSL FGDEDFQLKF EGRVGKGQRG
1460 1470 1480 1490 1500
DIALDDIVLT ENCLSLHDSV QEELAVPLPT GFCPLGYREC HNGKCYRLEQ
1510 1520 1530 1540 1550
SCNFVDNCGD NTDENECGSS CTFEKGWCGW QNSQADNFDW VLGVGSHQSL
1560 1570 1580 1590 1600
RPPKDHTLGN ENGHFMYLEA TAVGLRGDKA HFRSTMWRES SAACTMSFWY
1610 1620 1630 1640 1650
FVSAKATGSI QILIKTEKGL SKVWQESKQN PGNHWQKADI LLGKLRNFEV
1660 1670 1680 1690 1700
IFQGIRTRDL GGGAAIDDIE FKNCTTVGEI SELCPEITDF LCRDKKCIAS
1710 1720 1730 1740 1750
HLLCDYKPDC SDRSDEAHCA HYTSTTGSCN FETSSGNWTT ACSLTQDSED
1760 1770 1780 1790 1800
DLDWAIGSRI PAKALIPDSD HTPGSGQHFL YVNSSGSKEG SVARITTSKS
1810 1820 1830 1840 1850
FPASLGMCTV RFWFYMIDPR SMGILKVYTI EESGLNILVW SVIGNKRTGW
1860 1870 1880 1890 1900
TYGSVPLSSN SPFKVAFEAD LDGNEDIFIA LDDISFTPEC VTGGPVPVQP
1910 1920 1930 1940 1950
SPCEADQFSC IYTLQCVPLS GKCDGHEDCI DGSDEMDCPL SPTPPLCSNM
1960 1970 1980 1990 2000
EFPCSTDECI PSLLLCDGVP DCHFNEDELI CSNKSCSNGA LVCASSNSCI
2010 2020 2030 2040 2050
PAHQRCDGFA DCMDFQLDES SCSECPLNYC RNGGTCVVEK NGPMCRCRQG
2060 2070 2080 2090 2100
WKGNRCHIKF NPPATDFTYA QNNTWTLLGI GLAFLMTHIT VAVLCFLANR
2110 2120 2130 2140 2150
KVPIRKTEGS GNCAFVNPVY GNWSNPEKTE SSVYSFSNPL YGTTSGSLET

LSHHLK
Length:2,156
Mass (Da):241,008
Last modified:July 6, 2016 - v4
Checksum:i04123CC42AB1460C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075928666A → V1 PublicationCorresponds to variant dbSNP:rs16918344Ensembl.1
Natural variantiVAR_075929793D → H1 PublicationCorresponds to variant dbSNP:rs4601653Ensembl.1
Natural variantiVAR_075930887S → N1 PublicationCorresponds to variant dbSNP:rs2358355Ensembl.1
Natural variantiVAR_0425851266D → A. Corresponds to variant dbSNP:rs7100382Ensembl.1
Natural variantiVAR_0425861277I → V. Corresponds to variant dbSNP:rs7100403Ensembl.1
Natural variantiVAR_0425871357K → N1 PublicationCorresponds to variant dbSNP:rs1609746Ensembl.1
Natural variantiVAR_0425881417V → A1 PublicationCorresponds to variant dbSNP:rs10827306Ensembl.1
Natural variantiVAR_0425891513D → G. Corresponds to variant dbSNP:rs12773592Ensembl.1
Natural variantiVAR_0425901516E → K. Corresponds to variant dbSNP:rs12771333Ensembl.1
Natural variantiVAR_0425921602V → I1 PublicationCorresponds to variant dbSNP:rs10763975Ensembl.1
Natural variantiVAR_0425941683L → I. Corresponds to variant dbSNP:rs16918863Ensembl.1
Natural variantiVAR_0425951721H → Q. Corresponds to variant dbSNP:rs12256835Ensembl.1
Natural variantiVAR_0425961807M → T. Corresponds to variant dbSNP:rs7100661Ensembl.1
Natural variantiVAR_0425971895P → S. Corresponds to variant dbSNP:rs16919132Ensembl.1
Natural variantiVAR_0425981941S → N. Corresponds to variant dbSNP:rs10827628Ensembl.1
Natural variantiVAR_0425992013M → R. Corresponds to variant dbSNP:rs16919148Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
KC843478 mRNA. Translation: AGN95661.1.
AL157895 Genomic DNA. No translation available.
AL353147 Genomic DNA. No translation available.
AL354695 Genomic DNA. No translation available.
AL357520 Genomic DNA. No translation available.
AL391992 Genomic DNA. No translation available.
AL450470 Genomic DNA. No translation available.
AL589943 Genomic DNA. No translation available.
AL590378 Genomic DNA. No translation available.
KF455210 Genomic DNA. No translation available.
CCDSiCCDS73071.1.
RefSeqiNP_001135780.2. NM_001142308.2.
UniGeneiHs.646734.

Genome annotation databases

EnsembliENST00000454679; ENSP00000412763; ENSG00000204740.
GeneIDi340895.
KEGGihsa:340895.
UCSCiuc031vyw.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMALR1_HUMAN
AccessioniPrimary (citable) accession number: Q5VYJ5
Secondary accession number(s): B7ZBP2, R9WAE9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 6, 2016
Last modified: November 22, 2017
This is version 98 of the entry and version 4 of the sequence. See 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 10
    Human chromosome 10: 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