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Laminin subunit alpha-1

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(Redirected from LAMA1)
Protein-coding gene in the species Homo sapiens
LAMA1
Available structures
PDB Ortholog search: PDBe RCSB
List of PDB id codes

2JD4

Identifiers
Aliases LAMA1 , LAMA, S-LAM-alpha, PTBHS, Laminin, alpha 1, laminin subunit alpha 1
External IDsOMIM: 150320; MGI: 99892; HomoloGene: 21146; GeneCards: LAMA1; OMA:LAMA1 - orthologs
Gene location (Human)
Chromosome 18 (human)
Chr. Chromosome 18 (human) [1]
Band 18p11.31Start6,941,742 bp [1]
End7,117,797 bp [1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr. Chromosome 17 (mouse)[2]
Band 17 E1.1|17 38.8 cMStart68,004,254 bp [2]
End68,129,642 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
  • ventricular zone

  • right testis

  • left testis

  • mucosa of ileum

  • gonad

  • stromal cell of endometrium

  • testicle

  • ganglionic eminence

  • mucosa of colon

  • mucosa of sigmoid colon
  • Bowman's capsule

  • tail of embryo

  • ovary

  • epithelium of lens

  • cumulus cell

  • inner renal medulla

  • Gonadal ridge

  • efferent ductule

  • yolk sac

  • cortical collecting duct
More reference expression data
BioGPS


Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

284217

16772

Ensembl

ENSG00000101680

ENSMUSG00000032796

UniProt

P25391

P19137

RefSeq (mRNA)

NM_005559

NM_008480

RefSeq (protein)

NP_005550

NP_032506

Location (UCSC)Chr 18: 6.94 – 7.12 Mb Chr 17: 68 – 68.13 Mb
PubMed search[3] [4]
Wikidata

Laminin subunit alpha-1 is a protein that in humans is encoded by the LAMA1 gene.[5] [6]

Interactions

[edit ]

Laminin, alpha 1 has been shown to interact with FBLN2.[7] [8]

Role in pathology

[edit ]

Mutations of the LAMA1 gene cause the Poretti–Boltshauser syndrome.

References

[edit ]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101680Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032796Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Nagayoshi T, Mattei MG, Passage E, Knowlton R, Chu ML, Uitto J (January 1990). "Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3". Genomics. 5 (4): 932–5. doi:10.1016/0888-7543(89)90136-5. PMID 2591971.
  6. ^ "Entrez Gene: LAMA1 laminin, alpha 1".
  7. ^ Utani A, Nomizu M, Yamada Y (January 1997). "Fibulin-2 binds to the short arms of laminin-5 and laminin-1 via conserved amino acid sequences". J. Biol. Chem. 272 (5): 2814–20. doi:10.1074/jbc.272.5.2814 . ISSN 0021-9258. PMID 9006922. S2CID 24800195.
  8. ^ Talts JF, Sasaki T, Miosge N, Göhring W, Mann K, Mayne R, Timpl R (November 2000). "Structural and functional analysis of the recombinant G domain of the laminin alpha4 chain and its proteolytic processing in tissues". J. Biol. Chem. 275 (45): 35192–9. doi:10.1074/jbc.M003261200 . ISSN 0021-9258. PMID 10934193. S2CID 36521395.

Further reading

[edit ]
Extracellular
matrix
Collagen
Fibril forming
Other
Enzymes
Laminin
Other
Other
Stub icon

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