• Gene id: 9917

Gene Summary

• Gene Symbol: FAM20B   Gene   UCSC   Ensembl
• Aliases: gxk1
• Gene name: FAM20B glycosaminoglycan xylosylkinase
• Alternate names: glycosaminoglycan xylosylkinase, family with sequence similarity 20, member B, xylose kinase,
• Gene location: 1q25.2 (179025803: 179076573)     Exons: 11     NC_000001.11
• OMIM: 611063

Protein Summary

• Protein general information: O75063  
  • Name: Glycosaminoglycan xylosylkinase (EC 2.7.1. ) (Xylose kinase)
  • Length: 409  
  • Mass: 46432
  • Tissue specificity: Widely expressed. Strongly expressed in pancreas, spleen and fetal liver. {ECO
• Sequence:

  MKLKQRVVLLAILLVIFIFTKVFLIDNLDTSAANREDQRAFHRMMTGLRVELAPKLDHTLQSPWEIAAQWVVPRE
  VYPEETPELGAVMHAMATKKIIKADVGYKGTQLKALLILEGGQKVVFKPKRYSRDHVVEGEPYAGYDRHNAEVAA
  FHLDRILGFHRAPLVVGRFVNLRTEIKPVATEQLLSTFLTVGNNTCFYGKCYYCRETEPACADGDIMEGSVTLWL
  PDVWPLQKHRHPWGRTYREGKLARWEYDESYCDAVKKTSPYDSGPRLLDIIDTAVFDYLIGNADRHHYESFQDDE
  GASMLILLDNAKSFGNPSLDERSILAPLYQCCIIRVSTWNRLNYLKNGVLKSALKSAMAHDPISPVLSDPHLDAV
  DQRLLSVLATVKQCTDQFGMDTVLVEDRMPLSHL

• Structural information:
  • Interpro: IPR024869  IPR009581  
  • STRING: ENSP00000263733
• Other Databases: GeneCards:  FAM20B  Malacards:  FAM20B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030166	proteoglycan biosynthetic process	IBA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IBA	molecular function
GO:0016310	phosphorylation	IBA	biological process
GO:0006468	protein phosphorylation	IBA	NOT|biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq