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Protein

Leucine-rich repeat and death domain-containing protein 1

Gene

LRRD1

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

Functioni

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000240720.7
HGNCiHGNC:34300 LRRD1
neXtProtiNX_A4D1F6

Subcellular locationi

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiLRRD1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003258041 – 860Leucine-rich repeat and death domain-containing protein 1Add BLAST860

Proteomic databases

EPDiA4D1F6
PaxDbiA4D1F6
PRIDEiA4D1F6
ProteomicsDBi618
619 [A4D1F6-2]

PTM databases

PhosphoSitePlusiA4D1F6

Expressioni

Gene expression databases

BgeeiENSG00000240720 Expressed in 52 organ(s), highest expression level in right testis
ExpressionAtlasiA4D1F6 baseline and differential
GenevisibleiA4D1F6 HS

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000405987

Structurei

3D structure databases

ProteinModelPortaliA4D1F6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati139 – 163LRR 1Add BLAST25
Repeati164 – 186LRR 2Add BLAST23
Repeati187 – 210LRR 3Add BLAST24
Repeati211 – 233LRR 4Add BLAST23
Repeati235 – 256LRR 5Add BLAST22
Repeati257 – 279LRR 6Add BLAST23
Repeati281 – 302LRR 7Add BLAST22
Repeati303 – 325LRR 8Add BLAST23
Repeati326 – 348LRR 9Add BLAST23
Repeati350 – 371LRR 10Add BLAST22
Repeati372 – 394LRR 11Add BLAST23
Repeati396 – 417LRR 12Add BLAST22
Repeati419 – 440LRR 13Add BLAST22
Repeati441 – 463LRR 14Add BLAST23
Repeati465 – 486LRR 15Add BLAST22
Repeati487 – 510LRR 16Add BLAST24
Repeati512 – 532LRR 17Add BLAST21
Repeati533 – 555LRR 18Add BLAST23
Repeati557 – 578LRR 19Add BLAST22
Repeati579 – 601LRR 20Add BLAST23
Repeati603 – 624LRR 21Add BLAST22
Repeati627 – 650LRR 22Add BLAST24
Repeati651 – 673LRR 23Add BLAST23
Repeati675 – 696LRR 24Add BLAST22
Repeati697 – 719LRR 25Add BLAST23
Repeati721 – 742LRR 26Add BLAST22
Domaini764 – 852DeathPROSITE-ProRule annotationAdd BLAST89
Repeati856 – 860LRR 275

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00840000129686
HOVERGENiHBG108705
InParanoidiA4D1F6
OMAiNIHKLKN
OrthoDBiEOG091G0EII
PhylomeDBiA4D1F6
TreeFamiTF351429

Family and domain databases

Gene3Di3.80.10.10, 6 hits
InterProiView protein in InterPro
IPR000488 Death_domain
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF00560 LRR_1, 1 hit
PF13855 LRR_8, 4 hits
SMARTiView protein in SMART
SM00369 LRR_TYP, 15 hits
PROSITEiView protein in PROSITE
PS50017 DEATH_DOMAIN, 1 hit
PS51450 LRR, 22 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9K0I1C9K0I1_HUMAN
Leucine-rich repeat and death domai...
LRRD1
59Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti717Y → C in AAH26112 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0324121 – 649Missing in isoform 2. 1 PublicationAdd BLAST649
Alternative sequenceiVSP_032413760 – 860EKILE…RAIKF → GLQLHS in isoform 2. 1 PublicationAdd BLAST101

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000405987

PTM databases

PhosphoSitePlusiA4D1F6

Polymorphism and mutation databases

BioMutaiLRRD1

Proteomic databases

EPDiA4D1F6
PaxDbiA4D1F6
PRIDEiA4D1F6
ProteomicsDBi618
619 [A4D1F6-2]

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
EuPathDBiHostDB:ENSG00000240720.7
GeneCardsiLRRD1
HGNCiHGNC:34300 LRRD1
neXtProtiNX_A4D1F6
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00840000129686
HOVERGENiHBG108705
InParanoidiA4D1F6
OMAiNIHKLKN
OrthoDBiEOG091G0EII
PhylomeDBiA4D1F6
TreeFamiTF351429

Miscellaneous databases

GenomeRNAii401387
PROiPR:A4D1F6

Gene expression databases

BgeeiENSG00000240720 Expressed in 52 organ(s), highest expression level in right testis
ExpressionAtlasiA4D1F6 baseline and differential
GenevisibleiA4D1F6 HS

Family and domain databases

Gene3Di3.80.10.10, 6 hits
InterProiView protein in InterPro
IPR000488 Death_domain
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF00560 LRR_1, 1 hit
PF13855 LRR_8, 4 hits
SMARTiView protein in SMART
SM00369 LRR_TYP, 15 hits
PROSITEiView protein in PROSITE
PS50017 DEATH_DOMAIN, 1 hit
PS51450 LRR, 22 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLRRD1_HUMAN
AccessioniPrimary (citable) accession number: A4D1F6
Secondary accession number(s): B7ZMM9, Q49AT9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: November 7, 2018
This is version 101 of the entry and version 2 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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