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LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 [ Homo sapiens (human) ]

Gene ID: 23143, updated on 8-May-2016
Official Symbol
LRCH1provided by HGNC
Official Full Name
leucine-rich repeats and calponin homology (CH) domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20309
See related
Ensembl:ENSG00000136141 HPRD:14307; MIM:610368; Vega:OTTHUMG00000016877
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NP81; CHDC1
Summary
This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]
Orthologs
Location:
13q14.11
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (46553138..46753041)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (47127296..47327176)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene COX17 cytochrome c oxidase copper chaperone pseudogene 1 Neighboring gene FK506 binding protein 1A pseudogene 3 Neighboring gene esterase D Neighboring gene HTR2A antisense RNA 1 Neighboring gene 5-hydroxytryptamine receptor 2A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41660, KIAA1016

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Preferred Names
leucine-rich repeat and calponin homology domain-containing protein 1
Names
neuronal protein 81

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021335.1 RefSeqGene

    Range
    5001..204881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164211.1NP_001157683.1  leucine-rich repeat and calponin homology domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001157683.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL359880, BC117472, BC143883, BM679696, DA231068
    Consensus CDS
    CCDS53865.1
    UniProtKB/Swiss-Prot
    Q9Y2L9
    Related
    ENSP00000374447, OTTHUMP00000214856, ENST00000389797, OTTHUMT00000354618
    Conserved Domains (4) summary
    smart00033
    Location:615704
    CH; Calponin homology domain
    cd00116
    Location:115226
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam13855
    Location:190268
    LRR_8; Leucine rich repeat
    sd00033
    Location:7698
    LRR_RI; leucine-rich repeat [structural motif]
  2. NM_001164213.1NP_001157685.1  leucine-rich repeat and calponin homology domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001157685.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate 3' exon, compared to variant 1. These differences result in a distinct 3' UTR, compared to variant 1, and a shorter protein (isoform 3) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL530544, AY050631, BC112937, BE018226, BM991796, BM994390, CB529998, CB999464
    Consensus CDS
    CCDS53866.1
    UniProtKB/Swiss-Prot
    Q9Y2L9
    Related
    ENSP00000308493, OTTHUMP00000018373, ENST00000311191, OTTHUMT00000044825
    Conserved Domains (5) summary
    smart00033
    Location:580685
    CH; Calponin homology domain
    cd00116
    Location:115226
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam13855
    Location:190268
    LRR_8; Leucine rich repeat
    sd00031
    Location:285296
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:7698
    LRR_RI; leucine-rich repeat [structural motif]
  3. NM_015116.2NP_055931.1  leucine-rich repeat and calponin homology domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_055931.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AL359880, AL530544, AY050632, BC112937, BM679696
    Consensus CDS
    CCDS31972.1
    UniProtKB/Swiss-Prot
    Q9Y2L9
    Related
    ENSP00000374448, OTTHUMP00000018372, ENST00000389798, OTTHUMT00000044824
    Conserved Domains (5) summary
    smart00033
    Location:580669
    CH; Calponin homology domain
    cd00116
    Location:115226
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam13855
    Location:190268
    LRR_8; Leucine rich repeat
    sd00031
    Location:285296
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:7698
    LRR_RI; leucine-rich repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    46553138..46753041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535013.1XP_011533315.1  

    Conserved Domains (3) summary
    cd00116
    Location:74238
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam13855
    Location:190268
    LRR_8; Leucine rich repeat
    sd00033
    Location:7698
    LRR_RI; leucine-rich repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    47094831..47294960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)