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FLASH GENE
Symbol LAMC1 contributors: mct/npt - updated : 26/11/2008
HGNC name laminin, gamma 1 (formerly LAMB2)
HGNC id 6492
Location 1q31      Physical location : 182.992.594 - 183.114.726
Synonym name Laminin B2 chain
Synonym symbol(s) LAMB2, MGC87297
DNA
TYPE functioning gene
STRUCTURE 122.13 kb     28 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Physical map
CACNA1E 1q25-q31 calcium channel, voltage-dependent, alpha 1E subunit LOC127665 1q25.2 similar to zinc finger protein 135 (clone pHZ-17); zinc finger protein 61 LOC388718 1 similar to Protein translation factor SUI1 homolog (Sui1iso1) GLUL 1q31 glutamate-ammonia ligase (glutamine synthase) HE9 1q25.2 putative membrane protein HE9 LOC388719 1 hypothetical gene supported by AF508909 LOC127671 1q25.2 similar to CE9 protein RGSL2 1q25.2 regulator of G-protein signalling like 2 RGSL1  regulator of G-protein signalling like 1 RNASEL 1q25 ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) RGS16 1q25-q31 regulator of G-protein signalling 16 RGS8 1q25-q31 regulator of G-protein signalling 8 NPL 1q25 N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) DHX9 1q25 DEAH (Asp-Glu-Ala-His) box polypeptide 9 C1orf14 1q25-q31 chromosome 1 open reading frame 14 LOC391143 1 similar to natural cytotoxicity triggering receptor 1; lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46); lymphocyte antigen 94 (mouse) homolog (activating NK-receptor ; NK-p46); lymphocyte antigen 94 homolog, a LOC343326 1q25.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LAMC1 1q31 laminin, gamma 1 (formerly LAMB2) LAMC2 1q25-q31 laminin, gamma 2 NMNAT2 1q25-q31 nicotinamide nucleotide adenylyltransferase 2 C1orf16 1q25-q31 chromosome 1 open reading frame 16 NCF2 1q25 neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) ARPC5 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa RGL 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa C1orf17 1q25-q31 chromosome 1 open reading frame 17 C1orf19 1q25-q31 chromosome 1 open reading frame 19 LOC391144 1 similar to Rho-GTPase-activating protein 8 C1orf21 1q25-q31 chromosome 1 open reading frame 21 C1orf22 1q24-q25 chromosome 1 open reading frame 22
regionally located located LAMB2 between Fy and the cluster including REN, DAF and CR2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 7889 - 1609 - Jakobsson (2008)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   moderately
Nervousbrain   moderately
Reproductivemale systemprostate  highly
Respiratorylung   highly
Urinarykidney   moderately
Visualeye   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE) lowly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 33 amino acids signal peptide (3.3 kDa)
  • 4 laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • multiple EGF-like motifs with a nidogen binding site in the fourth EGF repeat within the N terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain (VI)
  • a long arm composed of heptad repeats typical of an cell alpha helical coiled-coil protein
  • a laminin N-terminal domain
  • eleven laminin EGF-like domains
  • a laminin IV domain
  • conjugated GlycoP
    mono polymer heteromer , trimer
    isoforms Precursor a 1576 amino acids mature peptide (174.3 kDa)
    HOMOLOGY
    interspecies homolog to murine Lamc1 (92.84 pc)
    homolog to rattus Lamc1 (92.53 pc)
    homolog to chimpanzee LAMC1 (99.44 pc)
    homolog to chicken LAMC1 (82.58 pc)
    homolog to Drosophila LanB2 (51.17 pc)
    homolog to C.elegans lam-2 (51.16 pc)
    Homologene
    FAMILY
  • intermediate filament family, type V
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
  • involved in guidance of axons during embryonic development of the human spinal cord
  • playing a role in the pelvic organ development
  • dispensable for vascular development but regulate lumen formation in the absence of flow and vascular tone
  • CELLULAR PROCESS cell life, proliferation/growth
    cell communication
    PHYSIOLOGICAL PROCESS development
    text endoderm development
    PATHWAY
    metabolism
    signaling
    a component
  • one of the major noncollagenous constituent of cutaneous basement membrane zone
  • kinesin complex
  • subunit conposing, with Alpha an Beta subunits, laminin 1, laminin 2, laminin 3, laminin 4, laminin 6, laminin 7 and laminin 11
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to other extracellular matrix components
  • binding site for NFIL3 (expressed in vaginal tissue)
  • cell & other
  • binding to cells via a high affinity receptor
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to pelvic organe prolapse
    Variant & Polymorphism other in the promoter of LAMC1 may increase the susceptibility to early-onset pelvic organ prolapse
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS