1. Gene
  2. LRCH1 - leucine rich repeats and calponin homology domain containing 1 Gene

LRCH1 - leucine rich repeats and calponin homology domain containing 1 Gene

Homo sapiens

Also known as NP81; CHDC1

Gene ID: 23143 | Gene type: protein coding

About LRCH1

Cytogenetic location: 13q14.13-q14.2 Genomic coordinates (GRCh38): 13:46,553,170-46,753,041 (from NCBI)

This gene has 6 transcripts (splice variants), 198 orthologues and 31 paralogues. Ubiquitous expression in endometrium (RPKM 5.5), placenta (RPKM 5.5) and 25 other tissues.

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]

LRCH1 Products(3)

mRNA Protein Name
NM_001164211.2 NP_001157683.2 leucine-rich repeat and calponin homology domain-containing protein 1 isoform 1
NM_001164213.2 NP_001157685.2 leucine-rich repeat and calponin homology domain-containing protein 1 isoform 3
NM_015116.3 NP_055931.2 leucine-rich repeat and calponin homology domain-containing protein 1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
24255178 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to chemokine IMP
IMP: Inferred from mutant phenotype
28028151 GOA
involved in negative regulation of GTPase activity IDA
IDA: Inferred from direct assay
28028151 GOA
involved in negative regulation of T cell migration IMP
IMP: Inferred from mutant phenotype
28028151 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
28028151 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRCH1 Protein Structure

LRR_8

LRR_8: Leucine rich repeat (103 - 155)

LRR_8

LRR_8: Leucine rich repeat (167 - 223)

CH

CH: Calponin homology (CH) domain (594 - 683)

  • 0
  • 200
  • 400
  • 600
  • 728 a.a.
Protein Preferred Names Protein Names

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

leucine-rich repeats and calponin homology (CH) domain containing 1

LRCH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
LRCH1 Q9Y2L9 DOCK8 Homo sapiens Q8NF50-2
Y2H Array
25416956
Intra
LRCH1 Q9Y2L9 DOCK7 Homo sapiens Q96N67
Anti Tag CoIP
33961781
Intra
LRCH1 Q9Y2L9 DOCK7 Homo sapiens Q96N67
Anti Tag CoIP
29467281
Intra
LRCH1 Q9Y2L9 DOCK8 Homo sapiens Q8NF50
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Osteoarthritis

Osteoarthrosis

Degenerative Joint Disease

Hypertrophic Arthritis

Arthropathy

Degenerative Polyarthritis

Degenerative Arthritis

Osteoarthrosis And Allied Disorder

Arthritis, Degenerative

Oa

Osteoarthritis Deformans

Osteoarthrosis Deformans

Kashin-Beck Disease

Cardiomyopathy, Familial Hypertrophic, 2

Hypertrophic Cardiomyopathy 2

CMH2

Cardiomyopathy, Hypertrophic, 2

Cardiomyopathy Familial Hypertrophic 2

Cardiomyopathy, Familial Hypertrophic 2

Cardiomyopathy, Hypertrophic, Familial, Type 2

Osteogenesis Imperfecta, Type Xv

Osteogenesis Imperfecta Type 15

OI15

Osteogenesis Imperfecta Type Xv

Oi, Type Xv

Osteogenesis Imperfecta 15

Oi Type Xv

Oi-Xv

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta LRCH1 VGNC VGNC:74317
Bos taurus LRCH1 VGNC VGNC:53822
Canis familiaris LRCH1 VGNC VGNC:49754
Rattus norvegicus LRCH1 RGD RGD:1595678
Mus musculus LRCH1 MGD MGI:2443390