LAMA1

Protein identityUniProt · HPA

UniProt accession

P25391

Gene

LAMA1

Ensembl

ENSG00000101680

Chromosome

18

Canonical length

3075 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

3075 residues, UniProt reviewed canonical sequence.

>P25391|LAMA1
     1  MRGGVLLVLL LCVAAQCRQR GLFPAILNLA SNAHISTNAT CGEKGPEMFC KLVEHVPGRP
    61  VRNPQCRICD GNSANPRERH PISHAIDGTN NWWQSPSIQN GREYHWVTIT LDLRQVFQVA
   121  YVIIKAANAP RPGNWILERS LDGTTFSPWQ YYAVSDSECL SRYNITPRRG PPTYRADDEV
   181  ICTSYYSRLV PLEHGEIHTS LINGRPSADD LSPKLLEFTS ARYIRLRLQR IRTLNADLMT
   241  LSHREPKELD PIVTRRYYYS IKDISVGGMC ICYGHASSCP WDETTKKLQC QCEHNTCGES
   301  CNRCCPGYHQ QPWRPGTVSS GNTCEACNCH NKAKDCYYDE SVAKQKKSLN TAGQFRGGGV
   361  CINCLQNTMG INCETCIDGY YRPHKVSPYE DEPCRPCNCD PVGSLSSVCI KDDLHSDLHN
   421  GKQPGQCPCK EGYTGEKCDR CQLGYKDYPT CVSCGCNPVG SASDEPCTGP CVCKENVEGK
   481  ACDRCKPGFY NLKEKNPRGC SECFCFGVSD VCSSLSWPVG QVNSMSGWLV TDLISPRKIP
   541  SQQDALGGRH QVSINNTAVM QRLAPKYYWA APEAYLGNKL TAFGGFLKYT VSYDIPVETV
   601  DSNLMSHADV IIKGNGLTLS TQAEGLSLQP YEEYLNVVRL VPENFQDFHS KRQIDRDQLM
   661  TVLANVTHLL IRANYNSAKM ALYRLESVSL DIASSNAIDL VVAADVEHCE CPQGYTGTSC
   721  ESCLSGYYRV DGILFGGICQ PCECHGHAAE CNVHGVCIAC AHNTTGVHCE QCLPGFYGEP
   781  SRGTPGDCQP CACPLTIASN NFSPTCHLND GDEVVCDWCA PGYSGAWCER CADGYYGNPT
   841  VPGESCVPCD CSGNVDPSEA GHCDSVTGEC LKCLGNTDGA HCERCADGFY GDAVTAKNCR
   901  ACECHVKGSH SAVCHLETGL CDCKPNVTGQ QCDQCLHGYY GLDSGHGCRP CNCSVAGSVS
   961  DGCTDEGQCH CVPGVAGKRC DRCAHGFYAY QDGSCTPCDC PHTQNTCDPE TGECVCPPHT
  1021  QGVKCEECED GHWGYDAEVG CQACNCSLVG STHHRCDVVT GHCQCKSKFG GRACDQCSLG
  1081  YRDFPDCVPC DCDLRGTSGD ACNLEQGLCG CVEETGACPC KENVFGPQCN ECREGTFALR
  1141  ADNPLGCSPC FCSGLSHLCS ELEDYVRTPV TLGSDQPLLR VVSQSNLRGT TEGVYYQAPD
  1201  FLLDAATVRQ HIRAEPFYWR LPQQFQGDQL MAYGGKLKYS VAFYSLDGVG TSNFEPQVLI
  1261  KGGRIRKQVI YMDAPAPENG VRQEQEVAMR ENFWKYFNSV SEKPVTREDF MSVLSDIEYI
  1321  LIKASYGQGL QQSRISDISM EVGRKAEKLH PEEEVASLLE NCVCPPGTVG FSCQDCAPGY
  1381  HRGKLPAGSD RGPRPLVAPC VPCSCNNHSD TCDPNTGKCL NCGDNTAGDH CDVCTSGYYG
  1441  KVTGSASDCA LCACPHSPPA SFSPTCVLEG DHDFRCDACL LGYEGKHCER CSSSYYGNPQ
  1501  TPGGSCQKCD CNPHGSVHGD CDRTSGQCVC RLGASGLRCD ECEPRHILME TDCVSCDDEC
  1561  VGVLLNDLDE IGDAVLSLNL TGIIPVPYGI LSNLENTTKY LQESLLKENM QKDLGKIKLE
  1621  GVAEETDNLQ KKLTRMLAST QKVNRATERI FKESQDLAIA IERLQMSITE IMEKTTLNQT
  1681  LDEDFLLPNS TLQNMQQNGT SLLEIMQIRD FTQLHQNATL ELKAAEDLLS QIQENYQKPL
  1741  EELEVLKEAA SHVLSKHNNE LKAAEALVRE AEAKMQESNH LLLMVNANLR EFSDKKLHVQ
  1801  EEQNLTSELI VQGRGLIDAA AAQTDAVQDA LEHLEDHQDK LLLWSAKIRH HIDDLVMHMS
  1861  QRNAVDLVYR AEDHAAEFQR LADVLYSGLE NIRNVSLNAT SAAYVHYNIQ SLIEESEELA
  1921  RDAHRTVTET SLLSESLVSN GKAAVQRSSR FLKEGNNLSR KLPGIALELS ELRNKTNRFQ
  1981  ENAVEITRQT NESLLILRAI PKGIRDKGAK TKELATSASQ SAVSTLRDVA GLSQELLNTS
  2041  ASLSRVNTTL RETHQLLQDS TMATLLAGRK VKDVEIQANL LFDRLKPLKM LEENLSRNLS
  2101  EIKLLISQAR KQAASIKVAV SADRDCIRAY QPQISSTNYN TLTLNVKTQE PDNLLFYLGS
  2161  STASDFLAVE MRRGRVAFLW DLGSGSTRLE FPDFPIDDNR WHSIHVARFG NIGSLSVKEM
  2221  SSNQKSPTKT SKSPGTANVL DVNNSTLMFV GGLGGQIKKS PAVKVTHFKG CLGEAFLNGK
  2281  SIGLWNYIER EGKCRGCFGS SQNEDPSFHF DGSGYSVVEK SLPATVTQII MLFNTFSPNG
  2341  LLLYLGSYGT KDFLSIELFR GRVKVMTDLG SGPITLLTDR RYNNGTWYKI AFQRNRKQGV
  2401  LAVIDAYNTS NKETKQGETP GASSDLNRLD KDPIYVGGLP RSRVVRRGVT TKSFVGCIKN
  2461  LEISRSTFDL LRNSYGVRKG CLLEPIRSVS FLKGGYIELP PKSLSPESEW LVTFATTNSS
  2521  GIILAALGGD VEKRGDREEA HVPFFSVMLI GGNIEVHVNP GDGTGLRKAL LHAPTGTCSD
  2581  GQAHSISLVR NRRIITVQLD ENNPVEMKLG TLVESRTINV SNLYVGGIPE GEGTSLLTMR
  2641  RSFHGCIKNL IFNLELLDFN SAVGHEQVDL DTCWLSERPK LAPDAEDSKL LPEPRAFPEQ
  2701  CVVDAALEYV PGAHQFGLTQ NSHFILPFNQ SAVRKKLSVE LSIRTFASSG LIYYMAHQNQ
  2761  ADYAVLQLHG GRLHFMFDLG KGRTKVSHPA LLSDGKWHTV KTDYVKRKGF ITVDGRESPM
  2821  VTVVGDGTML DVEGLFYLGG LPSQYQARKI GNITHSIPAC IGDVTVNSKQ LDKDSPVSAF
  2881  TVNRCYAVAQ EGTYFDGSGY AALVKEGYKV QSDVNITLEF RTSSQNGVLL GISTAKVDAI
  2941  GLELVDGKVL FHVNNGAGRI TAAYEPKTAT VLCDGKWHTL QANKSKHRIT LIVDGNAVGA
  3001  ESPHTQSTSV DTNNPIYVGG YPAGVKQKCL RSQTSFRGCL RKLALIKSPQ VQSFDFSRAF
  3061  ELHGVFLHSC PGTES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LAMA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

5.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LAMA1.

Disease | AllUniProt

Conditions LAMA1 is implicated in, by any mechanism.

• Poretti-Boltshauser syndrome (PTBHS) MIM:615960

Disease | GeneticClinVar

129 pathogenic / likely-pathogenic of 1,718 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
• Inborn genetic diseases
• LAMA1-related disorder
• Lung cancer
• Familial cancer of breast

Disease | AutoantibodyPubMed

Conditions in which antibodies against LAMA1 are reported. Each links to that disease's full target list.

• Pemphigoid, Bullous 51
• Blister 13
• Lupus Erythematosus, Systemic 11
• Infertility, Female 10
• Glomerulonephritis 9
• Skin Diseases, Vesiculobullous 8
• Glomerulonephritis, Membranous 7
• Lupus Nephritis 7
• Abortion, Habitual 5
• Anti-Glomerular Basement Membrane Disease 5
• Pemphigus 4
• Proteinuria 4
• Psoriasis 4
• Adenocarcinoma 3
• Heart Block 3
• Kidney Diseases 3
• Scleroderma, Systemic 3
• Vasculitis 3

Showing 18 of 22 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for LAMA1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.62

gnomAD pLI

0

gnomAD missense Z

-0.14

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• branching involved in salivary gland morphogenesis
• cell adhesion
• cell surface receptor signaling pathway
• epithelial tube branching involved in lung morphogenesis
• establishment of epithelial cell apical/basal polarity
• morphogenesis of an epithelial sheet
• negative regulation of muscle cell apoptotic process
• neuron projection development
• positive regulation of cell adhesion
• positive regulation of integrin-mediated signaling pathway
• positive regulation of muscle cell differentiation
• positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
• positive regulation of Rac protein signal transduction
• regulation of basement membrane organization
• regulation of cell migration
• regulation of embryonic development
• retinal blood vessel morphogenesis

Molecular functions

• extracellular matrix structural constituent
• glycosphingolipid binding
• receptor ligand activity

Cellular components

• basement membrane
• cell-cell junction
• extracellular matrix
• extracellular region
• extracellular space
• laminin-1 complex
• laminin-3 complex
• membrane
• protein complex involved in cell-matrix adhesion

Protein domainsUniProt · Pfam · InterPro

• Laminin IV
• EGF-like domain
• Laminin G domain
• Laminin-type EGF domain
• Laminin, N-terminal
• Laminin alpha, domain I
• Laminin domain II
• Concanavalin A-like lectin/glucanase domain superfamily
• Laminin/Netrin Extracellular Matrix
• Laminin/attractin/netrin-like, EGF domain
• Laminin B (Domain IV)
• Laminin EGF domain
• Laminin G domain
• Laminin N-terminal (Domain VI)
• Laminin Domain I
• Laminin Domain II
• Laminin/attractin EGF domain

KeywordsUniProt

• Basement membrane
• Cell adhesion
• Coiled coil
• Disulfide bond
• Extracellular matrix
• Glycoprotein
• Laminin EGF-like domain
• Phosphoprotein
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of LAMA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FBLN1