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Protein

Leucine-rich repeat and calponin homology domain-containing protein 1

Gene

LRCH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136141-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat and calponin homology domain-containing protein 1
Alternative name(s):
Calponin homology domain-containing protein 1
Neuronal protein 81
Short name:
NP81
Gene namesi
Name:LRCH1
Synonyms:CHDC1, KIAA1016
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:20309. LRCH1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi23143.
OpenTargetsiENSG00000136141.
PharmGKBiPA134898200.

Polymorphism and mutation databases

BioMutaiLRCH1.
DMDMi296439310.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844781 – 728Leucine-rich repeat and calponin homology domain-containing protein 1Add BLAST728

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei370PhosphoserineCombined sources1
Modified residuei409PhosphoserineBy similarity1
Modified residuei532PhosphoserineCombined sources1
Modified residuei536PhosphoserineCombined sources1
Modified residuei568PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y2L9.
PaxDbiQ9Y2L9.
PeptideAtlasiQ9Y2L9.
PRIDEiQ9Y2L9.

PTM databases

iPTMnetiQ9Y2L9.
PhosphoSitePlusiQ9Y2L9.

Expressioni

Gene expression databases

BgeeiENSG00000136141.
CleanExiHS_LRCH1.
ExpressionAtlasiQ9Y2L9. baseline and differential.
GenevisibleiQ9Y2L9. HS.

Organism-specific databases

HPAiHPA021536.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DOCK8Q8NF50-25EBI-2797324,EBI-10174653

Protein-protein interaction databases

BioGridi116760. 11 interactors.
IntActiQ9Y2L9. 12 interactors.
STRINGi9606.ENSP00000374447.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2L9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati98 – 119LRR 1Add BLAST22
Repeati121 – 143LRR 2Add BLAST23
Repeati144 – 166LRR 3Add BLAST23
Repeati167 – 187LRR 4Add BLAST21
Repeati189 – 210LRR 5Add BLAST22
Repeati212 – 234LRR 6Add BLAST23
Repeati235 – 255LRR 7Add BLAST21
Repeati257 – 278LRR 8Add BLAST22
Repeati283 – 304LRR 9Add BLAST22
Domaini576 – 689CHPROSITE-ProRule annotationAdd BLAST114

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi21 – 36His-richAdd BLAST16
Compositional biasi37 – 54Gly-richAdd BLAST18

Sequence similaritiesi

Contains 1 CH (calponin-homology) domain.PROSITE-ProRule annotation
Contains 9 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0532. Eukaryota.
KOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129676.
HOGENOMiHOG000049055.
HOVERGENiHBG052350.
InParanoidiQ9Y2L9.
OMAiRHIRKTV.
OrthoDBiEOG091G05CB.
PhylomeDBiQ9Y2L9.
TreeFamiTF318428.

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
3.80.10.10. 1 hit.
InterProiIPR001715. CH-domain.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF00307. CH. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00033. CH. 1 hit.
SM00369. LRR_TYP. 5 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
SSF52058. SSF52058. 1 hit.
PROSITEiPS50021. CH. 1 hit.
PS51450. LRR. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2L9-1) [UniParc]FASTAAdd to basket
Also known as: b, NP81b

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
MATPGSEPQP FVPALSVATL HPLHHPHHHH HHHQHHGGTG APGGAGGGGG
60 70 80 90 100
GSGGFNLPLN RGLERALEEA ANSGGLNLSA RKLKEFPRTA APGHDLSDTV
110 120 130 140 150
QADLSKNRLV EVPMELCHFV SLEILNLYHN CIRVIPEAIV NLQMLTYLNL
160 170 180 190 200
SRNQLSALPA CLCGLPLKVL IASNNKLGSL PEEIGQLKQL MELDVSCNEI
210 220 230 240 250
TALPQQIGQL KSLRELNVRR NYLKVLPQEL VDLSLVKFDF SCNKVLVIPI
260 270 280 290 300
CFREMKQLQV LLLENNPLQS PPAQICTKGK VHIFKYLSIQ ACQIKTADSL
310 320 330 340 350
YLHTMERPHL HQHVEDGKKD SDSGVGSDNG DKRLSATEPS DEDTVSLNVP
360 370 380 390 400
MSNIMEEEQI IKEDSCHRLS PVKGEFHQEF QPEPSLLGDS TNSGEERDQF
410 420 430 440 450
TDRADGLHSE FMNYKARAED CEELLRIEED VHWQTEGIIS SSKDQDMDIA
460 470 480 490 500
MIEQLREAVD LLQDPNGLST DITERSVLNL YPMGSAEALE LQDSALNGQI
510 520 530 540 550
QLETSPVCEV QSDLTLQSNG SQYSPNEIRE NSPAVSPTTN STAPFGLKPR
560 570 580 590 600
SVFLRPQRNL ESIDPQFTIR RKMEQMREEK ELVEQLRESI EMRLKVSLHE
610 620 630 640 650
DLGAALMDGV VLCHLVNHIR PRSVASIHVP SPAVPKLSMA KCRRNVENFL
660 670 680 690 700
EACRKLGVPE ADLCSPCDIL QLDFRHIRKT VDTLLALGEK APPPTSALRS
710 720
RDLIGFCLVH ILFIVLVYIT YHWNALSA
Length:728
Mass (Da):80,875
Last modified:May 18, 2010 - v3
Checksum:iD4E29414E466DBF8
GO
Isoform 2 (identifier: Q9Y2L9-2) [UniParc]FASTAAdd to basket
Also known as: a, NP81a

The sequence of this isoform differs from the canonical sequence as follows:
     661-696: ADLCSPCDILQLDFRHIRKTVDTLLALGEKAPPPTS → EKLCLPHHILEEKGLVKVGITIQALLDITVTKALFT
     697-728: Missing.

Show »
Length:696
Mass (Da):77,225
Checksum:i696D5FD894F69381
GO
Isoform 3 (identifier: Q9Y2L9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     551-551: S → SDPALILPPISFNTLTQAQTWDSSSYSVPSEGDSDN

Note: No experimental confirmation available.
Show »
Length:763
Mass (Da):84,611
Checksum:i3E357FFC469EB10F
GO

Sequence cautioni

The sequence BAA76860 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAH70793 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73643 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI12229 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti326G → V in AAI43884 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051133234S → P.3 PublicationsCorresponds to variant rs842381dbSNPEnsembl.1
Natural variantiVAR_051134486A → S.Corresponds to variant rs11617392dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044474551S → SDPALILPPISFNTLTQAQT WDSSSYSVPSEGDSDN in isoform 3. 1 Publication1
Alternative sequenceiVSP_010635661 – 696ADLCS…PPPTS → EKLCLPHHILEEKGLVKVGI TIQALLDITVTKALFT in isoform 2. 2 PublicationsAdd BLAST36
Alternative sequenceiVSP_010636697 – 728Missing in isoform 2. 2 PublicationsAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY050631 mRNA. Translation: AAK95567.1.
AY050632 mRNA. Translation: AAK95568.1.
AB023233 mRNA. Translation: BAA76860.1. Different initiation.
AL359880, AL136958, AL138704 Genomic DNA. Translation: CAH70793.1. Sequence problems.
AL138704, AL136958, AL359880 Genomic DNA. Translation: CAH73643.1. Sequence problems.
AL136958, AL138704, AL359880 Genomic DNA. Translation: CAI12229.1. Sequence problems.
BC112937 mRNA. Translation: AAI12938.1.
BC117472 mRNA. Translation: AAI17473.1.
BC143883 mRNA. Translation: AAI43884.1.
CCDSiCCDS31972.1. [Q9Y2L9-1]
CCDS53865.1. [Q9Y2L9-3]
CCDS53866.1. [Q9Y2L9-2]
RefSeqiNP_001157683.1. NM_001164211.1.
NP_001157685.1. NM_001164213.1.
NP_055931.1. NM_015116.2.
UniGeneiHs.507971.

Genome annotation databases

EnsembliENST00000311191; ENSP00000308493; ENSG00000136141. [Q9Y2L9-2]
ENST00000389797; ENSP00000374447; ENSG00000136141. [Q9Y2L9-3]
ENST00000389798; ENSP00000374448; ENSG00000136141. [Q9Y2L9-1]
GeneIDi23143.
KEGGihsa:23143.
UCSCiuc001vbj.4. human. [Q9Y2L9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY050631 mRNA. Translation: AAK95567.1.
AY050632 mRNA. Translation: AAK95568.1.
AB023233 mRNA. Translation: BAA76860.1. Different initiation.
AL359880, AL136958, AL138704 Genomic DNA. Translation: CAH70793.1. Sequence problems.
AL138704, AL136958, AL359880 Genomic DNA. Translation: CAH73643.1. Sequence problems.
AL136958, AL138704, AL359880 Genomic DNA. Translation: CAI12229.1. Sequence problems.
BC112937 mRNA. Translation: AAI12938.1.
BC117472 mRNA. Translation: AAI17473.1.
BC143883 mRNA. Translation: AAI43884.1.
CCDSiCCDS31972.1. [Q9Y2L9-1]
CCDS53865.1. [Q9Y2L9-3]
CCDS53866.1. [Q9Y2L9-2]
RefSeqiNP_001157683.1. NM_001164211.1.
NP_001157685.1. NM_001164213.1.
NP_055931.1. NM_015116.2.
UniGeneiHs.507971.

3D structure databases

ProteinModelPortaliQ9Y2L9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116760. 11 interactors.
IntActiQ9Y2L9. 12 interactors.
STRINGi9606.ENSP00000374447.

PTM databases

iPTMnetiQ9Y2L9.
PhosphoSitePlusiQ9Y2L9.

Polymorphism and mutation databases

BioMutaiLRCH1.
DMDMi296439310.

Proteomic databases

EPDiQ9Y2L9.
PaxDbiQ9Y2L9.
PeptideAtlasiQ9Y2L9.
PRIDEiQ9Y2L9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311191; ENSP00000308493; ENSG00000136141. [Q9Y2L9-2]
ENST00000389797; ENSP00000374447; ENSG00000136141. [Q9Y2L9-3]
ENST00000389798; ENSP00000374448; ENSG00000136141. [Q9Y2L9-1]
GeneIDi23143.
KEGGihsa:23143.
UCSCiuc001vbj.4. human. [Q9Y2L9-1]

Organism-specific databases

CTDi23143.
DisGeNETi23143.
GeneCardsiLRCH1.
HGNCiHGNC:20309. LRCH1.
HPAiHPA021536.
MIMi610368. gene.
neXtProtiNX_Q9Y2L9.
OpenTargetsiENSG00000136141.
PharmGKBiPA134898200.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0532. Eukaryota.
KOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129676.
HOGENOMiHOG000049055.
HOVERGENiHBG052350.
InParanoidiQ9Y2L9.
OMAiRHIRKTV.
OrthoDBiEOG091G05CB.
PhylomeDBiQ9Y2L9.
TreeFamiTF318428.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136141-MONOMER.

Miscellaneous databases

ChiTaRSiLRCH1. human.
GenomeRNAii23143.
PROiQ9Y2L9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136141.
CleanExiHS_LRCH1.
ExpressionAtlasiQ9Y2L9. baseline and differential.
GenevisibleiQ9Y2L9. HS.

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
3.80.10.10. 1 hit.
InterProiIPR001715. CH-domain.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF00307. CH. 1 hit.
PF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00033. CH. 1 hit.
SM00369. LRR_TYP. 5 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
SSF52058. SSF52058. 1 hit.
PROSITEiPS50021. CH. 1 hit.
PS51450. LRR. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRCH1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2L9
Secondary accession number(s): B7ZLL5
, F8W6F0, Q17R43, Q2KHR1, Q5TBU9, Q7Z5F6, Q7Z5F7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 22, 2003
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 141 of the entry and version 3 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 13
    Human chromosome 13: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.