LRRD1_HUMAN
ID LRRD1_HUMAN Reviewed; 860 AA.
AC A4D1F6; B7ZMM9; Q49AT9;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Leucine-rich repeat and death domain-containing protein 1;
GN Name=LRRD1;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A4D1F6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A4D1F6-2; Sequence=VSP_032412, VSP_032413;
CC -!- SEQUENCE CAUTION:
CC Sequence=EAL24153.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AC000120; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236949; EAL24153.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC026112; AAH26112.1; -; mRNA.
DR EMBL; BC144674; AAI44675.1; -; mRNA.
DR EMBL; BC144678; AAI44679.1; -; mRNA.
DR CCDS; CCDS55124.1; -. [A4D1F6-1]
DR RefSeq; NP_001155000.1; NM_001161528.1. [A4D1F6-1]
DR AlphaFoldDB; A4D1F6; -.
DR SMR; A4D1F6; -.
DR BioGRID; 135062; 2.
DR IntAct; A4D1F6; 1.
DR STRING; 9606.ENSP00000405987; -.
DR PhosphoSitePlus; A4D1F6; -.
DR BioMuta; LRRD1; -.
DR EPD; A4D1F6; -.
DR MassIVE; A4D1F6; -.
DR PaxDb; A4D1F6; -.
DR PeptideAtlas; A4D1F6; -.
DR PRIDE; A4D1F6; -.
DR ProteomicsDB; 618; -. [A4D1F6-1]
DR Antibodypedia; 58070; 1 antibodies from 1 providers.
DR DNASU; 401387; -.
DR Ensembl; ENST00000343318.9; ENSP00000339642.5; ENSG00000240720.10. [A4D1F6-2]
DR Ensembl; ENST00000458448.6; ENSP00000405987.1; ENSG00000240720.10. [A4D1F6-1]
DR GeneID; 401387; -.
DR KEGG; hsa:401387; -.
DR MANE-Select; ENST00000458448.6; ENSP00000405987.1; NM_001161528.2; NP_001155000.1.
DR UCSC; uc011kho.4; human. [A4D1F6-1]
DR CTD; 401387; -.
DR DisGeNET; 401387; -.
DR GeneCards; LRRD1; -.
DR HGNC; HGNC:34300; LRRD1.
DR HPA; ENSG00000240720; Tissue enriched (testis).
DR neXtProt; NX_A4D1F6; -.
DR VEuPathDB; HostDB:ENSG00000240720; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000161427; -.
DR HOGENOM; CLU_000288_18_17_1; -.
DR InParanoid; A4D1F6; -.
DR OMA; NFNGNYI; -.
DR OrthoDB; 826997at2759; -.
DR PhylomeDB; A4D1F6; -.
DR TreeFam; TF351429; -.
DR PathwayCommons; A4D1F6; -.
DR SignaLink; A4D1F6; -.
DR BioGRID-ORCS; 401387; 11 hits in 1065 CRISPR screens.
DR GenomeRNAi; 401387; -.
DR Pharos; A4D1F6; Tdark.
DR PRO; PR:A4D1F6; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; A4D1F6; protein.
DR Bgee; ENSG00000240720; Expressed in left testis and 54 other tissues.
DR ExpressionAtlas; A4D1F6; baseline and differential.
DR Genevisible; A4D1F6; HS.
DR GO; GO:0046579; P:positive regulation of Ras protein signal transduction; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR Gene3D; 1.10.533.10; -; 1.
DR Gene3D; 3.80.10.10; -; 6.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR InterPro; IPR000488; Death_domain.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF00560; LRR_1; 1.
DR Pfam; PF13855; LRR_8; 3.
DR SMART; SM00369; LRR_TYP; 15.
DR PROSITE; PS50017; DEATH_DOMAIN; 1.
DR PROSITE; PS51450; LRR; 22.
PE 2: Evidence at transcript level;
KW Alternative splicing; Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..860
FT /note="Leucine-rich repeat and death domain-containing
FT protein 1"
FT /id="PRO_0000325804"
FT REPEAT 139..163
FT /note="LRR 1"
FT REPEAT 164..186
FT /note="LRR 2"
FT REPEAT 187..210
FT /note="LRR 3"
FT REPEAT 211..233
FT /note="LRR 4"
FT REPEAT 235..256
FT /note="LRR 5"
FT REPEAT 257..279
FT /note="LRR 6"
FT REPEAT 281..302
FT /note="LRR 7"
FT REPEAT 303..325
FT /note="LRR 8"
FT REPEAT 326..348
FT /note="LRR 9"
FT REPEAT 350..371
FT /note="LRR 10"
FT REPEAT 372..394
FT /note="LRR 11"
FT REPEAT 396..417
FT /note="LRR 12"
FT REPEAT 419..440
FT /note="LRR 13"
FT REPEAT 441..463
FT /note="LRR 14"
FT REPEAT 465..486
FT /note="LRR 15"
FT REPEAT 487..510
FT /note="LRR 16"
FT REPEAT 512..532
FT /note="LRR 17"
FT REPEAT 533..555
FT /note="LRR 18"
FT REPEAT 557..578
FT /note="LRR 19"
FT REPEAT 579..601
FT /note="LRR 20"
FT REPEAT 603..624
FT /note="LRR 21"
FT REPEAT 627..650
FT /note="LRR 22"
FT REPEAT 651..673
FT /note="LRR 23"
FT REPEAT 675..696
FT /note="LRR 24"
FT REPEAT 697..719
FT /note="LRR 25"
FT REPEAT 721..742
FT /note="LRR 26"
FT DOMAIN 764..852
FT /note="Death"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00064"
FT REPEAT 856..860
FT /note="LRR 27"
FT REGION 1..103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..28
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..71
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 72..86
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 87..103
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..649
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032412"
FT VAR_SEQ 760..860
FT /note="EKILEKIFKIVANNITETNFEFLCQKLNLANSETDMPTKSTVSLSERAHQAL
FT VIWKTQSNKLSLTAAALRDQLIRALTMIGAYEIMDKITALNLFTRAIKF -> GLQLHS
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032413"
FT CONFLICT 717
FT /note="Y -> C (in Ref. 3; AAH26112)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 860 AA; 98035 MW; 5FACA4ED8AF0CF0E CRC64;
MSEKEGMSEV LEDTISQFRK ESRSQSMKEP GFIKETSNLI NEASDYLEGK SSNQIYETHP
RQNTLESTSS SGRKSKRNEE QKKNLQFSET STRTGTSQSL SSLTGRTAEY QALVNFLSHE
TVGEVSPQVS EENQKQLGLG ADNFTVNLEA KGLQEFPKDI LKIKYVKYLY LDKNQIKTFQ
GADSGDLLGL EILSLQENGL SSLPSEIQLL HNLRILNVSH NHISHIPKEI SQLGNIRQLF
FYNNYIENFP SDLECLGNLE ILSLGKNKLR HIPDTLPSLK TLRVLNLEYN QLTTFPKALC
FLPKLISLDL TGNLISSLPK EIRELKNLET LLMDHNKLTF LAVEIFQLLK IKELQLADNK
LEVISHKIEN FRELRILILD KNLLKNIPEK ISCCAMLECL SLSDNKLTEL PKYIHKLNNL
RKLHVNRNNM VKITDCISHL NNICSLEFSG NIITDVPIEI KNCQKIIKIE LSYNKIMYFP
LGLCALDSLY YLSVNGNYIS EIPVDISFSK QLLHLELSEN KLLIFSEHFC SLINLKYLDL
GKNQIKKIPA SISNMISLHV LILCCNKFET FPRELCTLEN LQVLDLSENQ LQKISSDICN
LKGIQKLNFS SNQFIHFPIE LCQLQSLEQL NISQIKGRKL TRLPGELSNM TQLKELDISN
NAIREIPRNI GELRNLVSLH AYNNQISYLP PSLLSLNDLQ QLNLSGNNLT ALPSAIYNIF
SLKEINFDDN PLLRPPVEIC KGKQLYTIAR YLQRADERDE KILEKIFKIV ANNITETNFE
FLCQKLNLAN SETDMPTKST VSLSERAHQA LVIWKTQSNK LSLTAAALRD QLIRALTMIG
AYEIMDKITA LNLFTRAIKF
