GLB1 information

GLB1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3THC, 3THD, 3WEZ, 3WF0, 3WF1, 3WF2, 3WF3, 3WF4
Identifiers
Aliases	GLB1, EBP, ELNR1, MPS4B, galactosidase beta 1
External IDs	OMIM: 611458; MGI: 88151; HomoloGene: 47922; GeneCards: GLB1; OMA:GLB1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	33,097,202 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	114,303,966 bp
RNA expression pattern
	Top expressed in
	monocyte; ; stromal cell of endometrium; ; secondary oocyte; ; islet of Langerhans; ; corpus epididymis; ; granulocyte; ; rectum; ; epithelium of colon; ; gallbladder; ; tibia;
	Top expressed in
	right kidney; ; human kidney; ; proximal tubule; ; migratory enteric neural crest cell; ; seminal vesicula; ; epithelium of small intestine; ; blastocyst; ; stroma of bone marrow; ; calvaria; ; yolk sac;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; hydrolase activity, hydrolyzing O-glycosyl compounds; galactoside binding; hydrolase activity, acting on glycosyl bonds; hydrolase activity; exo-alpha-sialidase activity; beta-galactosidase activity; protein homodimerization activity;
Cellular component	perinuclear region of cytoplasm; Golgi apparatus; lysosome; lysosomal lumen; intracellular membrane-bounded organelle; extracellular exosome; cytoplasm; vacuole; extracellular region; extracellular space; azurophil granule lumen; ficolin-1-rich granule lumen;
Biological process	galactose catabolic process; glycosphingolipid metabolic process; cellular carbohydrate metabolic process; keratan sulfate catabolic process; metabolism; glycosaminoglycan catabolic process; neutrophil degranulation; response to cortisone; response to Thyroglobulin triiodothyronine; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	2720
	12091
	ENSG00000170266
	ENSMUSG00000045594
	P16278
	P23780
	NM_001135602; NM_000404; NM_001079811; NM_001317040; NM_001393580
	NM_009752
	NP_000395; NP_001073279; NP_001129074; NP_001303969
	NP_033882
	Wikidata
View/Edit Human	View/Edit Mouse

Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the GLB1 gene.^[5]^[6]

The GLB1 protein is a beta-galactosidase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates.^[7] The GLB1 gene also encodes an elastin binding protein.^[8]

In corn (Zea mays), Glb1 is a gene coding for the storage protein globulin.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000170266 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045594 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Shows TB, Scrafford-Wolff L, Brown JA, Meisler M (1978). "Assignment of a beta-galactosidase gene (beta GALA) to chromosome 3 in man". Cytogenetics and Cell Genetics. 22 (1–6): 219–22. doi:10.1159/000130940. PMID 110522.
^ Oshima A, Tsuji A, Nagao Y, Sakuraba H, Suzuki Y (Nov 1988). "Cloning, sequencing, and expression of cDNA for human beta-galactosidase". Biochemical and Biophysical Research Communications. 157 (1): 238–44. doi:10.1016/S0006-291X(88)80038-X. PMID 3143362.
^ Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y (Aug 1991). "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases". American Journal of Human Genetics. 49 (2): 435–42. PMC 1683306. PMID 1907800.
^ Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A (Mar 2005). "Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis". Human Mutation. 25 (3): 285–92. doi:10.1002/humu.20147. hdl:2158/312510. PMID 15714521. S2CID 36584440.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000170266 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000045594 – Ensembl, 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.

[pmid110522-5] Shows TB, Scrafford-Wolff L, Brown JA, Meisler M (1978). "Assignment of a beta-galactosidase gene (beta GALA) to chromosome 3 in man". Cytogenetics and Cell Genetics. 22 (1–6): 219–22. doi:10.1159/000130940. PMID 110522.

[pmid3143362-6] Oshima A, Tsuji A, Nagao Y, Sakuraba H, Suzuki Y (Nov 1988). "Cloning, sequencing, and expression of cDNA for human beta-galactosidase". Biochemical and Biophysical Research Communications. 157 (1): 238–44. doi:10.1016/S0006-291X(88)80038-X. PMID 3143362.

[pmid1907800-7] Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y (Aug 1991). "Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases". American Journal of Human Genetics. 49 (2): 435–42. PMC 1683306. PMID 1907800.

[pmid15714521-8] Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A (Mar 2005). "Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis". Human Mutation. 25 (3): 285–92. doi:10.1002/humu.20147. hdl:2158/312510. PMID 15714521. S2CID 36584440.

GLB1 information

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