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Protein

Leucine-rich repeat and death domain-containing protein 1

Gene

LRRD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat and death domain-containing protein 1
Gene namesi
Name:LRRD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:34300. LRRD1.

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiLRRD1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 860860Leucine-rich repeat and death domain-containing protein 1PRO_0000325804Add
BLAST

Proteomic databases

PaxDbiA4D1F6.
PRIDEiA4D1F6.

PTM databases

PhosphoSiteiA4D1F6.

Expressioni

Gene expression databases

BgeeiA4D1F6.
ExpressionAtlasiA4D1F6. baseline and differential.
GenevisibleiA4D1F6. HS.

Organism-specific databases

HPAiHPA055670.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000405987.

Structurei

3D structure databases

ProteinModelPortaliA4D1F6.
SMRiA4D1F6. Positions 135-823.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati139 – 16325LRR 1Add
BLAST
Repeati164 – 18623LRR 2Add
BLAST
Repeati187 – 21024LRR 3Add
BLAST
Repeati211 – 23323LRR 4Add
BLAST
Repeati235 – 25622LRR 5Add
BLAST
Repeati257 – 27923LRR 6Add
BLAST
Repeati281 – 30222LRR 7Add
BLAST
Repeati303 – 32523LRR 8Add
BLAST
Repeati326 – 34823LRR 9Add
BLAST
Repeati350 – 37122LRR 10Add
BLAST
Repeati372 – 39423LRR 11Add
BLAST
Repeati396 – 41722LRR 12Add
BLAST
Repeati419 – 44022LRR 13Add
BLAST
Repeati441 – 46323LRR 14Add
BLAST
Repeati465 – 48622LRR 15Add
BLAST
Repeati487 – 51024LRR 16Add
BLAST
Repeati512 – 53221LRR 17Add
BLAST
Repeati533 – 55523LRR 18Add
BLAST
Repeati557 – 57822LRR 19Add
BLAST
Repeati579 – 60123LRR 20Add
BLAST
Repeati603 – 62422LRR 21Add
BLAST
Repeati627 – 65024LRR 22Add
BLAST
Repeati651 – 67323LRR 23Add
BLAST
Repeati675 – 69622LRR 24Add
BLAST
Repeati697 – 71923LRR 25Add
BLAST
Repeati721 – 74222LRR 26Add
BLAST
Domaini764 – 85289DeathPROSITE-ProRule annotationAdd
BLAST
Repeati856 – 8605LRR 27

Sequence similaritiesi

Contains 1 death domain.PROSITE-ProRule annotation
Contains 27 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOVERGENiHBG108705.
InParanoidiA4D1F6.
OMAiCCAMLEC.
OrthoDBiEOG761BT5.
PhylomeDBiA4D1F6.
TreeFamiTF351429.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.80.10.10. 4 hits.
InterProiIPR011029. DEATH-like_dom.
IPR000488. Death_domain.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF00560. LRR_1. 1 hit.
PF13855. LRR_8. 4 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 15 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS50017. DEATH_DOMAIN. 1 hit.
PS51450. LRR. 22 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A4D1F6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSEKEGMSEV LEDTISQFRK ESRSQSMKEP GFIKETSNLI NEASDYLEGK
60 70 80 90 100
SSNQIYETHP RQNTLESTSS SGRKSKRNEE QKKNLQFSET STRTGTSQSL
110 120 130 140 150
SSLTGRTAEY QALVNFLSHE TVGEVSPQVS EENQKQLGLG ADNFTVNLEA
160 170 180 190 200
KGLQEFPKDI LKIKYVKYLY LDKNQIKTFQ GADSGDLLGL EILSLQENGL
210 220 230 240 250
SSLPSEIQLL HNLRILNVSH NHISHIPKEI SQLGNIRQLF FYNNYIENFP
260 270 280 290 300
SDLECLGNLE ILSLGKNKLR HIPDTLPSLK TLRVLNLEYN QLTTFPKALC
310 320 330 340 350
FLPKLISLDL TGNLISSLPK EIRELKNLET LLMDHNKLTF LAVEIFQLLK
360 370 380 390 400
IKELQLADNK LEVISHKIEN FRELRILILD KNLLKNIPEK ISCCAMLECL
410 420 430 440 450
SLSDNKLTEL PKYIHKLNNL RKLHVNRNNM VKITDCISHL NNICSLEFSG
460 470 480 490 500
NIITDVPIEI KNCQKIIKIE LSYNKIMYFP LGLCALDSLY YLSVNGNYIS
510 520 530 540 550
EIPVDISFSK QLLHLELSEN KLLIFSEHFC SLINLKYLDL GKNQIKKIPA
560 570 580 590 600
SISNMISLHV LILCCNKFET FPRELCTLEN LQVLDLSENQ LQKISSDICN
610 620 630 640 650
LKGIQKLNFS SNQFIHFPIE LCQLQSLEQL NISQIKGRKL TRLPGELSNM
660 670 680 690 700
TQLKELDISN NAIREIPRNI GELRNLVSLH AYNNQISYLP PSLLSLNDLQ
710 720 730 740 750
QLNLSGNNLT ALPSAIYNIF SLKEINFDDN PLLRPPVEIC KGKQLYTIAR
760 770 780 790 800
YLQRADERDE KILEKIFKIV ANNITETNFE FLCQKLNLAN SETDMPTKST
810 820 830 840 850
VSLSERAHQA LVIWKTQSNK LSLTAAALRD QLIRALTMIG AYEIMDKITA
860
LNLFTRAIKF
Note: No experimental confirmation available.
Length:860
Mass (Da):98,035
Last modified:March 18, 2008 - v2
Checksum:i5FACA4ED8AF0CF0E
GO
Isoform 2 (identifier: A4D1F6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-649: Missing.
     760-860: EKILEKIFKI...LNLFTRAIKF → GLQLHS

Note: No experimental confirmation available.
Show »
Length:116
Mass (Da):13,216
Checksum:i0935F5384FBD88D2
GO

Sequence cautioni

The sequence EAL24153.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti717 – 7171Y → C in AAH26112 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 649649Missing in isoform 2. 1 PublicationVSP_032412Add
BLAST
Alternative sequencei760 – 860101EKILE…RAIKF → GLQLHS in isoform 2. 1 PublicationVSP_032413Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC000120 Genomic DNA. No translation available.
CH236949 Genomic DNA. Translation: EAL24153.1. Sequence problems.
BC026112 mRNA. Translation: AAH26112.1.
BC144674 mRNA. Translation: AAI44675.1.
BC144678 mRNA. Translation: AAI44679.1.
CCDSiCCDS55124.1. [A4D1F6-1]
RefSeqiNP_001155000.1. NM_001161528.1. [A4D1F6-1]
UniGeneiHs.671729.

Genome annotation databases

EnsembliENST00000343318; ENSP00000339642; ENSG00000240720. [A4D1F6-2]
ENST00000430130; ENSP00000411568; ENSG00000240720. [A4D1F6-1]
ENST00000458448; ENSP00000405987; ENSG00000240720. [A4D1F6-1]
GeneIDi401387.
KEGGihsa:401387.
UCSCiuc011kho.4. human. [A4D1F6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC000120 Genomic DNA. No translation available.
CH236949 Genomic DNA. Translation: EAL24153.1. Sequence problems.
BC026112 mRNA. Translation: AAH26112.1.
BC144674 mRNA. Translation: AAI44675.1.
BC144678 mRNA. Translation: AAI44679.1.
CCDSiCCDS55124.1. [A4D1F6-1]
RefSeqiNP_001155000.1. NM_001161528.1. [A4D1F6-1]
UniGeneiHs.671729.

3D structure databases

ProteinModelPortaliA4D1F6.
SMRiA4D1F6. Positions 135-823.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000405987.

PTM databases

PhosphoSiteiA4D1F6.

Polymorphism and mutation databases

BioMutaiLRRD1.

Proteomic databases

PaxDbiA4D1F6.
PRIDEiA4D1F6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343318; ENSP00000339642; ENSG00000240720. [A4D1F6-2]
ENST00000430130; ENSP00000411568; ENSG00000240720. [A4D1F6-1]
ENST00000458448; ENSP00000405987; ENSG00000240720. [A4D1F6-1]
GeneIDi401387.
KEGGihsa:401387.
UCSCiuc011kho.4. human. [A4D1F6-1]

Organism-specific databases

CTDi401387.
GeneCardsiLRRD1.
HGNCiHGNC:34300. LRRD1.
HPAiHPA055670.
neXtProtiNX_A4D1F6.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOVERGENiHBG108705.
InParanoidiA4D1F6.
OMAiCCAMLEC.
OrthoDBiEOG761BT5.
PhylomeDBiA4D1F6.
TreeFamiTF351429.

Miscellaneous databases

GenomeRNAii401387.
NextBioi106780.
PROiA4D1F6.

Gene expression databases

BgeeiA4D1F6.
ExpressionAtlasiA4D1F6. baseline and differential.
GenevisibleiA4D1F6. HS.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.80.10.10. 4 hits.
InterProiIPR011029. DEATH-like_dom.
IPR000488. Death_domain.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF00560. LRR_1. 1 hit.
PF13855. LRR_8. 4 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 15 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS50017. DEATH_DOMAIN. 1 hit.
PS51450. LRR. 22 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.

Entry informationi

Entry nameiLRRD1_HUMAN
AccessioniPrimary (citable) accession number: A4D1F6
Secondary accession number(s): B7ZMM9, Q49AT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: May 11, 2016
This is version 85 of the entry and version 2 of the sequence. [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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.