Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 284217
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol LAMA1   Gene   UCSC   Ensembl
Aliases LAMA, PTBHS, S-LAM-alpha
Gene name laminin subunit alpha 1
Alternate names laminin subunit alpha-1, S-LAM alpha, S-laminin subunit alpha, laminin A chain, laminin, alpha 1, laminin-3 subunit alpha,
Gene location 18p11.31 (41353932: 41330530)     Exons: 7     NC_000019.10
Gene summary(Entrez) 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]
OMIM 150320

Protein Summary
Protein general information P25391  

Name: Laminin subunit alpha 1 (Laminin A chain) (Laminin 1 subunit alpha) (Laminin 3 subunit alpha) (S laminin subunit alpha) (S LAM alpha)

Length: 3075  Mass: 337,084

Sequence MRGGVLLVLLLCVAAQCRQRGLFPAILNLASNAHISTNATCGEKGPEMFCKLVEHVPGRPVRNPQCRICDGNSAN
PRERHPISHAIDGTNNWWQSPSIQNGREYHWVTITLDLRQVFQVAYVIIKAANAPRPGNWILERSLDGTTFSPWQ
YYAVSDSECLSRYNITPRRGPPTYRADDEVICTSYYSRLVPLEHGEIHTSLINGRPSADDLSPKLLEFTSARYIR
LRLQRIRTLNADLMTLSHREPKELDPIVTRRYYYSIKDISVGGMCICYGHASSCPWDETTKKLQCQCEHNTCGES
CNRCCPGYHQQPWRPGTVSSGNTCEACNCHNKAKDCYYDESVAKQKKSLNTAGQFRGGGVCINCLQNTMGINCET
CIDGYYRPHKVSPYEDEPCRPCNCDPVGSLSSVCIKDDLHSDLHNGKQPGQCPCKEGYTGEKCDRCQLGYKDYPT
CVSCGCNPVGSASDEPCTGPCVCKENVEGKACDRCKPGFYNLKEKNPRGCSECFCFGVSDVCSSLSWPVGQVNSM
SGWLVTDLISPRKIPSQQDALGGRHQVSINNTAVMQRLAPKYYWAAPEAYLGNKLTAFGGFLKYTVSYDIPVETV
DSNLMSHADVIIKGNGLTLSTQAEGLSLQPYEEYLNVVRLVPENFQDFHSKRQIDRDQLMTVLANVTHLLIRANY
NSAKMALYRLESVSLDIASSNAIDLVVAADVEHCECPQGYTGTSCESCLSGYYRVDGILFGGICQPCECHGHAAE
CNVHGVCIACAHNTTGVHCEQCLPGFYGEPSRGTPGDCQPCACPLTIASNNFSPTCHLNDGDEVVCDWCAPGYSG
AWCERCADGYYGNPTVPGESCVPCDCSGNVDPSEAGHCDSVTGECLKCLGNTDGAHCERCADGFYGDAVTAKNCR
ACECHVKGSHSAVCHLETGLCDCKPNVTGQQCDQCLHGYYGLDSGHGCRPCNCSVAGSVSDGCTDEGQCHCVPGV
AGKRCDRCAHGFYAYQDGSCTPCDCPHTQNTCDPETGECVCPPHTQGVKCEECEDGHWGYDAEVGCQACNCSLVG
STHHRCDVVTGHCQCKSKFGGRACDQCSLGYRDFPDCVPCDCDLRGTSGDACNLEQGLCGCVEETGACPCKENVF
GPQCNECREGTFALRADNPLGCSPCFCSGLSHLCSELEDYVRTPVTLGSDQPLLRVVSQSNLRGTTEGVYYQAPD
FLLDAATVRQHIRAEPFYWRLPQQFQGDQLMAYGGKLKYSVAFYSLDGVGTSNFEPQVLIKGGRIRKQVIYMDAP
APENGVRQEQEVAMRENFWKYFNSVSEKPVTREDFMSVLSDIEYILIKASYGQGLQQSRISDISMEVGRKAEKLH
PEEEVASLLENCVCPPGTVGFSCQDCAPGYHRGKLPAGSDRGPRPLVAPCVPCSCNNHSDTCDPNTGKCLNCGDN
TAGDHCDVCTSGYYGKVTGSASDCALCACPHSPPASFSPTCVLEGDHDFRCDACLLGYEGKHCERCSSSYYGNPQ
TPGGSCQKCDCNPHGSVHGDCDRTSGQCVCRLGASGLRCDECEPRHILMETDCVSCDDECVGVLLNDLDEIGDAV
LSLNLTGIIPVPYGILSNLENTTKYLQESLLKENMQKDLGKIKLEGVAEETDNLQKKLTRMLASTQKVNRATERI
FKESQDLAIAIERLQMSITEIMEKTTLNQTLDEDFLLPNSTLQNMQQNGTSLLEIMQIRDFTQLHQNATLELKAA
EDLLSQIQENYQKPLEELEVLKEAASHVLSKHNNELKAAEALVREAEAKMQESNHLLLMVNANLREFSDKKLHVQ
EEQNLTSELIVQGRGLIDAAAAQTDAVQDALEHLEDHQDKLLLWSAKIRHHIDDLVMHMSQRNAVDLVYRAEDHA
AEFQRLADVLYSGLENIRNVSLNATSAAYVHYNIQSLIEESEELARDAHRTVTETSLLSESLVSNGKAAVQRSSR
FLKEGNNLSRKLPGIALELSELRNKTNRFQENAVEITRQTNESLLILRAIPKGIRDKGAKTKELATSASQSAVST
LRDVAGLSQELLNTSASLSRVNTTLRETHQLLQDSTMATLLAGRKVKDVEIQANLLFDRLKPLKMLEENLSRNLS
EIKLLISQARKQAASIKVAVSADRDCIRAYQPQISSTNYNTLTLNVKTQEPDNLLFYLGSSTASDFLAVEMRRGR
VAFLWDLGSGSTRLEFPDFPIDDNRWHSIHVARFGNIGSLSVKEMSSNQKSPTKTSKSPGTANVLDVNNSTLMFV
GGLGGQIKKSPAVKVTHFKGCLGEAFLNGKSIGLWNYIEREGKCRGCFGSSQNEDPSFHFDGSGYSVVEKSLPAT
VTQIIMLFNTFSPNGLLLYLGSYGTKDFLSIELFRGRVKVMTDLGSGPITLLTDRRYNNGTWYKIAFQRNRKQGV
LAVIDAYNTSNKETKQGETPGASSDLNRLDKDPIYVGGLPRSRVVRRGVTTKSFVGCIKNLEISRSTFDLLRNSY
GVRKGCLLEPIRSVSFLKGGYIELPPKSLSPESEWLVTFATTNSSGIILAALGGDVEKRGDREEAHVPFFSVMLI
GGNIEVHVNPGDGTGLRKALLHAPTGTCSDGQAHSISLVRNRRIITVQLDENNPVEMKLGTLVESRTINVSNLYV
GGIPEGEGTSLLTMRRSFHGCIKNLIFNLELLDFNSAVGHEQVDLDTCWLSERPKLAPDAEDSKLLPEPRAFPEQ
CVVDAALEYVPGAHQFGLTQNSHFILPFNQSAVRKKLSVELSIRTFASSGLIYYMAHQNQADYAVLQLHGGRLHF
MFDLGKGRTKVSHPALLSDGKWHTVKTDYVKRKGFITVDGRESPMVTVVGDGTMLDVEGLFYLGGLPSQYQARKI
GNITHSIPACIGDVTVNSKQLDKDSPVSAFTVNRCYAVAQEGTYFDGSGYAALVKEGYKVQSDVNITLEFRTSSQ
NGVLLGISTAKVDAIGLELVDGKVLFHVNNGAGRITAAYEPKTATVLCDGKWHTLQANKSKHRITLIVDGNAVGA
ESPHTQSTSVDTNNPIYVGGYPAGVKQKCLRSQTSFRGCLRKLALIKSPQVQSFDFSRAFELHGVFLHSCPGTES
Structural information
Protein Domains
 Laminin (18-269)
Laminin (270-326)
Laminin (327-396)
Laminin (397-453)

Motifs
 Cell attachment(2534-2536)
Interpro:  IPR013320 IPR000742 IPR008979 IPR009254 IPR010307 IPR002049 IPR001791 IPR000034 IPR008211
Prosite:   PS00022 PS01186 PS01248 PS50027 PS50025 PS51115 PS51117

Pfam:  		 PF00052 PF00053 PF00054 PF06008 PF06009 PF00055

DIP:  		 29324
MINT:   6740485
STRING:   ENSP00000374309;
Other Databases GeneCards:  LAMA1;  Malacards:  LAMA1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005102 receptor binding
 IEA molecular_function
GO:0005201 extracellular matrix stru
ctural constituent
 ISS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 ISS cellular_component
GO:0005604 basement membrane
 IDA cellular_component
GO:0005604 basement membrane
 IDA cellular_component
GO:0005606 laminin-1 complex
 IPI cellular_component
GO:0005606 laminin-1 complex
 IDA cellular_component
GO:0005608 laminin-3 complex
 IPI cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0007155 cell adhesion
 IEA biological_process
GO:0007166 cell surface receptor sig
naling pathway
 ISS biological_process
GO:0030155 regulation of cell adhesi
on
 IEA biological_process
GO:0030198 extracellular matrix orga
nization
 TAS biological_process
GO:0030334 regulation of cell migrat
ion
 IEA biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0045995 regulation of embryonic d
evelopment
 IEA biological_process
GO:0031012 extracellular matrix
 TAS cellular_component
GO:0005102 receptor binding
 IEA molecular_function
GO:0005201 extracellular matrix stru
ctural constituent
 ISS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 ISS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 IEA cellular_component
GO:0005604 basement membrane
 IEA cellular_component
GO:0005604 basement membrane
 IEA cellular_component
GO:0005604 basement membrane
 IDA cellular_component
GO:0005604 basement membrane
 IDA cellular_component
GO:0005606 laminin-1 complex
 IPI cellular_component
GO:0005606 laminin-1 complex
 IDA cellular_component
GO:0005608 laminin-3 complex
 IPI cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0007155 cell adhesion
 IEA biological_process
GO:0007155 cell adhesion
 IEA biological_process
GO:0007166 cell surface receptor sig
naling pathway
 ISS biological_process
GO:0030155 regulation of cell adhesi
on
 IEA biological_process
GO:0030198 extracellular matrix orga
nization
 TAS biological_process
GO:0030334 regulation of cell migrat
ion
 IEA biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0045995 regulation of embryonic d
evelopment
 IEA biological_process
GO:0031012 extracellular matrix
 TAS cellular_component
GO:0005201 extracellular matrix stru
ctural constituent
 ISS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 ISS cellular_component
GO:0005604 basement membrane
 IDA cellular_component
GO:0005604 basement membrane
 IDA cellular_component
GO:0005606 laminin-1 complex
 IPI cellular_component
GO:0005606 laminin-1 complex
 IDA cellular_component
GO:0005608 laminin-3 complex
 IPI cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0007166 cell surface receptor sig
naling pathway
 ISS biological_process
GO:0030198 extracellular matrix orga
nization
 TAS biological_process
GO:0031012 extracellular matrix
 IDA cellular_component
GO:0031012 extracellular matrix
 TAS cellular_component

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa05145  Toxoplasmosis
hsa05146  Amoebiasis
hsa05222  Small cell lung cancer
hsa04512  ECM-receptor interaction

Diseases

Associated diseases References
Asthma PMID: 11022011
Cancer PMID: 20876614
Endometriosis PMID: 24813083
Implantation failure PMID: 1378028
Female infertility INFBASE24813083
Dysmenorrhea INFBASE24813083
Pelvic endometriosis INFBASE24813083
Endometriosis associated infertility INFBASE21658322
Female infertility INFBASE12615822
Endometriosis INFBASE12615822

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24813083 Endometrio
sis
80 (60 women wi
th confirmed pe
lvic endometrio
sis constituted
the endometrio
sis group, 20 w
omen without en
dometriosis)
 Female infertility CA125
syntaxin-5 and laminin-1
 Show abstract
12615822 Endometrio
sis
107 (68 inferti
le patients who
underwent lapa
roscopy or lapa
rotomy, 39 heal
thy non-pregnan
t women)
 Female infertility Laminin-1
 Show abstract
21658322 Endometrio
sis
112 (62 inferti
le men (35 infe
rtile women wit
h endometriosis
, 27 infertile
women without e
ndometriosis),
50 controls)
 Female infertility
Show abstract