Q13751 (LAMB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Laminin subunit beta-3

Alternative name(s):
Epiligrin subunit bata
Kalinin B1 chain
Kalinin subunit beta
Laminin B1k chain
Laminin-5 subunit beta
Nicein subunit beta

Gene names

Name:	LAMB3
Synonyms:	LAMNB1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1172 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
Subunit structure	Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein). Interacts with ECM1. Ref.8
Subcellular location	Secreted › extracellular space › extracellular matrix › basement membrane.
Tissue specificity	Found in the basement membranes (major component).
Domain	The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domain VI is globular.
Involvement in disease	Defects in LAMB3 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]; also known as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement membrane. H-JEB is a severe, infantile and lethal form. Death occurs usually within the first six months of life. Occasionally, children survive to teens. H-JEB is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. Ref.9 Defects in LAMB3 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. Ref.10 Ref.12
Sequence similarities	Contains 6 laminin EGF-like domains. Contains 1 laminin N-terminal domain.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Basement membrane Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Epidermolysis bullosa
Domain	Coiled coil Laminin EGF-like domain Repeat Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW epidermis development Traceable author statement. Source: ProtInc hemidesmosome assembly Traceable author statement. Source: Reactome
Cellular component	basement membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	structural molecule activity Non-traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 17	17	Potential
	Chain	18 – 1172	1155	Laminin subunit beta-3		PRO_0000017071
Regions
	Domain	22 – 249	228	Laminin N-terminal
	Domain	250 – 315	66	Laminin EGF-like 1
	Domain	316 – 378	63	Laminin EGF-like 2
	Domain	379 – 430	52	Laminin EGF-like 3
	Domain	431 – 480	50	Laminin EGF-like 4
	Domain	481 – 533	53	Laminin EGF-like 5
	Domain	534 – 580	47	Laminin EGF-like 6
	Region	579 – 785	207	Domain II
	Region	786 – 816	31	Domain alpha
	Region	817 – 1170	354	Domain I
	Coiled coil	723 – 757	35	Potential
	Coiled coil	831 – 884	54	Potential
	Coiled coil	948 – 1133	186	Potential
Amino acid modifications
	Glycosylation	220	1	N-linked (GlcNAc...) Potential
	Glycosylation	604	1	N-linked (GlcNAc...) Potential
	Glycosylation	810	1	N-linked (GlcNAc...) Potential
	Disulfide bond	250 ↔ 259		By similarity
	Disulfide bond	252 ↔ 279		By similarity
	Disulfide bond	281 ↔ 290		By similarity
	Disulfide bond	293 ↔ 313		By similarity
	Disulfide bond	316 ↔ 325		By similarity
	Disulfide bond	318 ↔ 343		By similarity
	Disulfide bond	346 ↔ 355		By similarity
	Disulfide bond	358 ↔ 376		By similarity
	Disulfide bond	379 ↔ 392		By similarity
	Disulfide bond	381 ↔ 399		By similarity
	Disulfide bond	401 ↔ 410		By similarity
	Disulfide bond	413 ↔ 428		By similarity
	Disulfide bond	431 ↔ 444		By similarity
	Disulfide bond	433 ↔ 451		By similarity
	Disulfide bond	453 ↔ 462		By similarity
	Disulfide bond	465 ↔ 478		By similarity
	Disulfide bond	481 ↔ 493		By similarity
	Disulfide bond	483 ↔ 500		By similarity
	Disulfide bond	502 ↔ 511		By similarity
	Disulfide bond	519 ↔ 531		By similarity
	Disulfide bond	534 ↔ 546		By similarity
	Disulfide bond	536 ↔ 553		By similarity
	Disulfide bond	555 ↔ 564		By similarity
	Disulfide bond	567 ↔ 578		By similarity
	Disulfide bond	581		Interchain Probable
	Disulfide bond	584		Interchain Probable
	Disulfide bond	1171		Interchain Probable
Natural variations
	Natural variant	181	1	N → D. Corresponds to variant rs2235542 [ dbSNP | Ensembl ].		VAR_037309
	Natural variant	199	1	G → A in GABEB; somatic second-site mutation. Ref.12		VAR_037310
	Natural variant	207	1	K → Q in GABEB; somatic second-site mutation. Ref.12		VAR_037311
	Natural variant	210	1	E → K in GABEB. Ref.10 Ref.12		VAR_004170
	Natural variant	292	1	R → L. Corresponds to variant rs12091253 [ dbSNP | Ensembl ].		VAR_037312
	Natural variant	438	1	S → T. Corresponds to variant rs2229468 [ dbSNP | Ensembl ].		VAR_034060
	Natural variant	450	1	R → C in a colorectal cancer sample; somatic mutation. Ref.11		VAR_035820
	Natural variant	527	1	V → M. Corresponds to variant rs2076349 [ dbSNP | Ensembl ].		VAR_037313
	Natural variant	679	1	P → L in H-JEB. Ref.9		VAR_004171
	Natural variant	690	1	N → S. Corresponds to variant rs2229466 [ dbSNP | Ensembl ].		VAR_034061
	Natural variant	852	1	M → L. Ref.6 Corresponds to variant rs12748250 [ dbSNP | Ensembl ].		VAR_034062
	Natural variant	926	1	A → D. Corresponds to variant rs2076222 [ dbSNP | Ensembl ].		VAR_037314
	Natural variant	988	1	R → W. Corresponds to variant rs2229467 [ dbSNP | Ensembl ].		VAR_034063
Experimental info
	Sequence conflict	124	1	Q → R in AAA61834. Ref.1
	Sequence conflict	269	1	Missing in AAA61834. Ref.1
	Sequence conflict	388	1	P → A in AAA61834. Ref.1
	Sequence conflict	426 – 427	2	QG → RR in AAA61834. Ref.1
	Sequence conflict	440 – 441	2	RD → E in AAA61834. Ref.1
	Sequence conflict	489 – 500	12	LSPQC…FTGQC → PQPTVQPVHRAV in BAA22263. Ref.3
	Sequence conflict	603	1	R → P in AAA61834. Ref.1
	Sequence conflict	815	1	G → A in AAA61834. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q13751 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 61BC1A60BBD4FA05	FASTA	1,172	129,572
	10 20 30 40 50 60 MRPFFLLCFA LPGLLHAQQA CSRGACYPPV GDLLVGRTRF LRASSTCGLT KPETYCTQYG 70 80 90 100 110 120 EWQMKCCKCD SRQPHNYYSH RVENVASSSG PMRWWQSQND VNPVSLQLDL DRRFQLQEVM 130 140 150 160 170 180 MEFQGPMPAG MLIERSSDFG KTWRVYQYLA ADCTSTFPRV RQGRPQSWQD VRCQSLPQRP 190 200 210 220 230 240 NARLNGGKVQ LNLMDLVSGI PATQSQKIQE VGEITNLRVN FTRLAPVPQR GYHPPSAYYA 250 260 270 280 290 300 VSQLRLQGSC FCHGHADRCA PKPGASAGPS TAVQVHDVCV CQHNTAGPNC ERCAPFYNNR 310 320 330 340 350 360 PWRPAEGQDA HECQRCDCNG HSETCHFDPA VFAASQGAYG GVCDNCRDHT EGKNCERCQL 370 380 390 400 410 420 HYFRNRRPGA SIQETCISCE CDPDGAVPGA PCDPVTGQCV CKEHVQGERC DLCKPGFTGL 430 440 450 460 470 480 TYANPQGCHR CDCNILGSRR DMPCDEESGR CLCLPNVVGP KCDQCAPYHW KLASGQGCEP 490 500 510 520 530 540 CACDPHNSLS PQCNQFTGQC PCREGFGGLM CSAAAIRQCP DRTYGDVATG CRACDCDFRG 550 560 570 580 590 600 TEGPGCDKAS GRCLCRPGLT GPRCDQCQRG YCNRYPVCVA CHPCFQTYDA DLREQALRFG 610 620 630 640 650 660 RLRNATASLW SGPGLEDRGL ASRILDAKSK IEQIRAVLSS PAVTEQEVAQ VASAILSLRR 670 680 690 700 710 720 TLQGLQLDLP LEEETLSLPR DLESLDRSFN GLLTMYQRKR EQFEKISSAD PSGAFRMLST 730 740 750 760 770 780 AYEQSAQAAQ QVSDSSRLLD QLRDSRREAE RLVRQAGGGG GTGSPKLVAL RLEMSSLPDL 790 800 810 820 830 840 TPTFNKLCGN SRQMACTPIS CPGELCPQDN GTACGSRCRG VLPRAGGAFL MAGQVAEQLR 850 860 870 880 890 900 GFNAQLQRTR QMIRAAEESA SQIQSSAQRL ETQVSASRSQ MEEDVRRTRL LIQQVRDFLT 910 920 930 940 950 960 DPDTDAATIQ EVSEAVLALW LPTDSATVLQ KMNEIQAIAA RLPNVDLVLS QTKQDIARAR 970 980 990 1000 1010 1020 RLQAEAEEAR SRAHAVEGQV EDVVGNLRQG TVALQEAQDT MQGTSRSLRL IQDRVAEVQQ 1030 1040 1050 1060 1070 1080 VLRPAEKLVT SMTKQLGDFW TRMEELRHQA RQQGAEAVQA QQLAEGASEQ ALSAQEGFER 1090 1100 1110 1120 1130 1140 IKQKYAELKD RLGQSSMLGE QGARIQSVKT EAEELFGETM EMMDRMKDME LELLRGSQAI 1150 1160 1170 MLRSADLTGL EKRVEQIRDH INGRVLYYAT CK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The complete primary structure for a novel laminin chain, the laminin B1k chain." Gerecke D.R., Wagman D.W., Champliaud M.-F., Burgeson R.E. J. Biol. Chem. 269:11073-11080(1994) [PubMed: 7512558] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 172-190.
[2]	"Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa." Pulkkinen L., Gerecke D.R., Christiano A.M., Wagman D.W., Burgeson R.E., Uitto J. Genomics 25:192-198(1995) [PubMed: 7774918] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization." Morishima Y., Ariyama T., Yamanishi K., Abe T., Ueda E., Yasuno H., Inazawa J. Genomics 28:273-279(1995) [PubMed: 8530036] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Epidermis.
[4]	"In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa." Robbins P.B., Lin Q., Goodnough J.B., Tian H., Chen X., Khavari P.A. Proc. Natl. Acad. Sci. U.S.A. 98:5193-5198(2001) [PubMed: 11296269] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-852.
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[8]	"ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain." Sercu S., Lambeir A.M., Steenackers E., El Ghalbzouri A., Geentjens K., Sasaki T., Oyama N., Merregaert J. Matrix Biol. 28:160-169(2009) [PubMed: 19275936] [Abstract] Cited for: INTERACTION WITH ECM1.
[9]	"Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)." Pulkkinen L., McGrath J.A., Christiano A.M., Uitto J. Hum. Mutat. 6:77-84(1995) [PubMed: 7550237] [Abstract] Cited for: VARIANT H-JEB LEU-679.
[10]	"E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa." Mellerio J.E., Eady R.A.J., Atherton D.J., Lake B.D., McGrath J.A. Br. J. Dermatol. 139:325-331(1998) [PubMed: 9767254] [Abstract] Cited for: VARIANT GABEB LYS-210.
[11]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-450.
[12]	"Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3." Pasmooij A.M.G., Pas H.H., Bolling M.C., Jonkman M.F. J. Clin. Invest. 117:1240-1248(2007) [PubMed: 17476356] [Abstract] Cited for: VARIANTS GABEB ALA-199; GLN-207 AND LYS-210.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	L25541 mRNA. Translation: AAA61834.1. U17760 , U17745, U17746, U17747, U17748, U17749, U17750, U17751, U17752, U17753, U17754, U17755, U17756, U17757, U17758, U17759 Genomic DNA. Translation: AAC51352.1. D37766 mRNA. Translation: BAA22263.1. AY035783 mRNA. Translation: AAK61364.1. AL023754 Genomic DNA. Translation: CAA19297.2. AL023754, AL031316 Genomic DNA. Translation: CAI19989.1. AL031316, AL023754 Genomic DNA. Translation: CAI20062.1. CH471100 Genomic DNA. Translation: EAW93448.1. CH471100 Genomic DNA. Translation: EAW93449.1. BC075838 mRNA. Translation: AAH75838.1.
IPI	IPI00299404.
PIR	A53612.
RefSeq	NP_000219.2. NM_000228.2. NP_001017402.1. NM_001017402.1. NP_001121113.1. NM_001127641.1.
UniGene	Hs.497636.
3D structure databases
ProteinModelPortal	Q13751.
SMR	Q13751. Positions 23-584.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-4053402.
STRING	Q13751.
Polymorphism databases
DMDM	2497600.
Proteomic databases
PRIDE	Q13751.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356082; ENSP00000348384; ENSG00000196878. ENST00000367030; ENSP00000355997; ENSG00000196878. ENST00000391911; ENSP00000375778; ENSG00000196878.
GeneID	3914.
KEGG	hsa:3914.
UCSC	uc001hhg.1. human.
Organism-specific databases
CTD	3914.
GeneCards	GC01M209788.
H-InvDB	HIX0028663.
HGNC	HGNC:6490. LAMB3.
HPA	HPA008069.
MIM	150310. gene. 226650. phenotype. 226700. phenotype.
neXtProt	NX_Q13751.
Orphanet	79402. Generalized junctional epidermolysis bullosa, non-Herlitz type. 79404. Junctional epidermolysis bullosa, Herlitz type.
PharmGKB	PA30278.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18941.
HOGENOM	HBG279187.
HOVERGEN	HBG052302.
InParanoid	Q13751.
OMA	GHADRCA.
OrthoDB	EOG4JDH5Z.
PhylomeDB	Q13751.
Enzyme and pathway databases
Pathway_Interaction_DB	a6b1_a6b4_integrin_pathway. a6b1 and a6b4 Integrin signaling. amb2_neutrophils_pathway. amb2 Integrin signaling.
Reactome	REACT_111155. Cell-Cell communication.
Gene expression databases
ArrayExpress	Q13751.
Bgee	Q13751.
CleanEx	HS_LAMB3.
Genevestigator	Q13751.
GermOnline	ENSG00000196878. Homo sapiens.
Family and domain databases
InterPro	IPR013032. EGF-like_reg_CS. IPR002049. EGF_laminin. IPR008211. Laminin_N. [Graphical view]
KO	K06244.
Pfam	PF00053. Laminin_EGF. 6 hits. PF00055. Laminin_N. 1 hit. [Graphical view]
SMART	SM00180. EGF_Lam. 6 hits. SM00136. LamNT. 1 hit. [Graphical view]
PROSITE	PS00022. EGF_1. 5 hits. PS01186. EGF_2. 1 hit. PS01248. EGF_LAM_1. 5 hits. PS50027. EGF_LAM_2. 6 hits. PS51117. LAMININ_NTER. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	15375.
PMAP-CutDB	Q13751.
SOURCE	Search...

Entry information

Entry name

LAMB3_HUMAN

Accession

Primary (citable) accession number: Q13751
Secondary accession number(s): D3DT88 , O14947, Q14733, Q9UJK4, Q9UJL1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1996
Last modified:	January 25, 2012
This is version 122 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.