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FLASH GENE
Symbol LAMA3 contributors: mct/npt/pgu - updated : 31-03-2010
HGNC name laminin, alpha 3
HGNC id 6483
Corresponding disease
EBJ1C epidermolysis bullosa, junctional , Herlitz type
EBJ2C epidermolysis bullosa junctional, non-Herlitz type
LOCS laryngo-onycho-cutaneous syndrome
Location 18q11.2      Physical location : 21.269.561 - 21.535.027
Synonym name
  • laminin alpha 3 compoment of the laminin 5 basement membrane protein
  • laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)
  • nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin
  • Synonym symbol(s) LAMNA, C3A6, E170, LAMA3A, BM600, Lm3B11, Lm3B21, Lm3B11
    DNA
    TYPE functioning gene
    STRUCTURE 265.47 kb     76 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    ROCK1 18q11.2 Rho-associated, coiled-coil containing protein kinase 1 LOC388471 18 similar to 60S RIBOSOMAL PROTEIN L21 LOC390839 18 similar to Endonuclease G like 1 (Endo G like) FLJ13687 EFO1 18q11.2 establishment factor-like protein SNRPD1 18q11.1 small nuclear ribonucleoprotein D1 polypeptide 16kDa ABHD3 18q11.1 abhydrolase domain containing 3 MIB 18q11.2 ubiquitin ligase mind bomb LOC201484 18q11.2 hypothetical LOC201484 GATA6 18q11.1-q11.2 GATA binding protein 6 CTAGE-1 18p11.2 CTAGE-1 protein CTAGE-2 18p11.2 CTAGE-2 LOC390840 18 similar to ribosomal protein S4, X-linked LOC390841 18 similar to ubiquitin-conjugating enzyme E2C isoform 2; ubiquitin carrier protein E2-C; ubiquitin-protein ligase C; cyclin-selective ubiquitin carrier protein; mitotic-specific ubiquitin-conjugating enzyme RBBP8 18q11.2 retinoblastoma binding protein 8 LOC91768 MGC11386 18q11.2 hypothetical protein MGC11386 RIOK3 18q11.2 RIO kinase 3 (yeast) C18orf8 18q11.2 chromosome 18 open reading frame 8 NPC1 18q11.1-q11.2 Niemann-Pick disease, type C1 LOC147463 18q11.2 hypothetical protein LOC147463 LOC390842 18 similar to 40S ribosomal protein S10 LAMA3 18q11.2 laminin, alpha 3 FLJ33761 18q11.2 hypothetical protein FLJ33761 CABYR 18q11.1 calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) OSBPL1A 18q11-q12 oxysterol binding protein-like 1A IMPACT 18q11.2-q12.1 hypothetical protein IMPACT HRH4 18q11.2 histamine receptor H4 LOC390843 18 similar to hypothetical protein BC005868 LOC342741 18q11.2 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 48 LOC147468 18q11.2 similar to WW domain binding protein 2 EHZF 18q11.2 early hematopoietic zinc finger SS18 18q11.2 synovial sarcoma translocation, chromosome 18 MGC26605 18q11.2 hypothetical protein MGC26605 TAF4B 18q11.2 TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa KCTD1 18 potassium channel tetramerisation domain containing 1 LOC388472 18 hypothetical gene supported by BC002568 LOC342695 18q12.1 similar to ubiquitin fusion degradation 1-like AQP4 18q11.2.q12.1 aquaporin 4 FLJ30507 18q12.1 hypothetical protein FLJ30507 CHST9 18q11.2 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 splicing 5623 190.4 1724 placenta, pancreas, thymus, prostate, lung, colon, keratinocytes 2010 20805229
  • isoform 1 known as LAM Alpha 3a (LAMA3A)
  • differring in the 5' UTR and the 5' coding region compared to variant 1
  • containing exon 1b (shorter than 1a)
  • involved in tumour cell invasion and progression
  • initiated from an internal site in intron 38, encoding the N-terminally truncated laminin alpha3a protein
  • 76 splicing 10511 366.5 3333 highly expressed in placenta, lung, pancreas, and prostate, expressed in both endothelial and epithelial cells and in the in vascular basement menbrane 2010 20805229
  • isoform 1 known as LAM Alpha 3b (LAMA3B)
  • laminin-3B11, and laminin-3B21
  • containing exon 1a (longer than 1b)
  • containing exont 75a (longer than 75b)
  • encoding for the longest product
  • 37 - 5455 - 1668 - 2009 19773554
    74 - 10343 - 3277 - 2009 19773554
    10 - - 64 - placenta, testis, heart, lung, prostate, small intestine, leukocytes, keratinocytes 2009 19773554
  • also called LAMA3LN1
  • ex 1&
  • 65533;9 + 9e
  • LaNt (Laminin N terminus) alpha31
  • may play important roles in regulating laminin matrix functions and its expression is up-regulated during wound healing
  • 26 - - - 1039 placenta, liver thymus, prostate 2009 19773554
  • also called LAMA3LN2a
  • ex 1&
  • 65533;25 + 25e
  • LaNt alpha 32a (laminin N terminus)
  • may play important roles in regulating laminin matrix functions and its expression is up-regulated during wound healing
  • 12 - - - 994 liver, leukocytes 2009 19773554
  • also called LAMA3LN2b
  • ex 1&
  • 65533;9, 10&65533;25 + 25e
  • LaNt alpha32b (laminin N terminus)
  • may play important roles in regulating laminin matrix functions and its expression is up-regulated during wound healing
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinelarge intestinecolon highly
     mouth   predominantly
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemplacenta  highly
     male systemprostate  highly
    Respiratoryrespiratory tracttrachea  lowly
     respiratory tractlarynx  highly
    Skin/Tegumentskin   lowly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text early in developing embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • N terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain
  • a N-terminal domain
  • a short stretch of laminin-type epidermal growth factor-like repeats
  • a long arm composed of heptad repeats typical of a cell alpha helical coiled-coil protein
  • five globular domains, binding to integrins and/or dystroglycan in the C terminal region
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Lama3 (78.13 pc)
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • in the basement membrane
  • extracellular matrix, component of the basal lamina of kreatinocyte
  • basic FUNCTION
  • mediating the attachment, migration and organization of cells into tissues during embryonic development and key regulator of the granulation tissue response
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/vision
    a component
  • constituent of cutaneous basement membrane zone
  • heterotrimerizing with laminin beta 3 and gamma 2 in laminin 5 (kalinin/nicein)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ITGA3
  • ITGA6
  • ITGB1
  • ITGB4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBJ1C , EBJ2C , LOCS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS