• Gene id: 91252

Gene Summary

• Gene Symbol: SLC39A13   Gene   UCSC   Ensembl
• Aliases: EDSSPD3, LZT-Hs9, SCDEDS, ZIP13
• Gene name: solute carrier family 39 member 13
• Alternate names: zinc transporter ZIP13, LIV-1 subfamily of ZIP zinc transporter 9, solute carrier family 39 (metal ion transporter), member 13, solute carrier family 39 (zinc transporter), member 13, zrt- and Irt-like protein 13,
• Gene location: 11p11.2 (47407131: 47416500)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndro
• OMIM: 608735

Protein Summary

• Protein general information: Q96H72  
  • Name: Zinc transporter ZIP13 (LIV 1 subfamily of ZIP zinc transporter 9) (LZT Hs9) (Solute carrier family 39 member 13) (Zrt and Irt like protein 13) (ZIP 13)
  • Length: 371  
  • Mass: 39011
• Sequence:

  MPGCPCPGCGMAGPRLLFLTALALELLERAGGSQPALRSRGTATACRLDNKESESWGALLSGERLDTWICSLLGS
  LMVGLSGVFPLLVIPLEMGTMLRSEAGAWRLKQLLSFALGGLLGNVFLHLLPEAWAYTCSASPGGEGQSLQQQQQ
  LGLWVIAGILTFLALEKMFLDSKEEGTSQAPNKDPTAAAAALNGGHCLAQPAAEPGLGAVVRSIKVSGYLNLLAN
  TIDNFTHGLAVAASFLVSKKIGLLTTMAILLHEIPHEVGDFAILLRAGFDRWSAAKLQLSTALGGLLGAGFAICT
  QSPKGVVGCSPAAEETAAWVLPFTSGGFLYIALVNVLPDLLEEEDPWRSLQQLLLLCAGIVVMVLFSLFVD

• Structural information:
  • Interpro: IPR003689  
  • STRING: ENSP00000354689
• Other Databases: GeneCards:  SLC39A13  Malacards:  SLC39A13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005385	zinc ion transmembrane transporter activity	IBA	molecular function
GO:0006882	cellular zinc ion homeostasis	IBA	biological process
GO:0071577	zinc ion transmembrane transport	IBA	biological process
GO:0030001	metal ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046873	metal ion transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006829	zinc ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
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:0071577	zinc ion transmembrane transport	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0006882	cellular zinc ion homeostasis	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0010043	response to zinc ion	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0061448	connective tissue development	IEA	biological process
GO:0005385	zinc ion transmembrane transporter activity	IC	molecular function
GO:0005385	zinc ion transmembrane transporter activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006882	cellular zinc ion homeostasis	IDA	biological process
GO:0030173	integral component of Golgi membrane	IC	cellular component
GO:0071577	zinc ion transmembrane transport	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0006882	cellular zinc ion homeostasis	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0071577	zinc ion transmembrane transport	ISS	biological process
GO:0061448	connective tissue development	IMP	biological process
GO:0000139	Golgi membrane	IEA	cellular component

Diseases

Associated diseases	References
Ehlers-Danlos syndrome, spondylodysplastic type	KEGG:H02239
Ehlers-Danlos syndrome, spondylodysplastic type	KEGG:H02239
Ehlers-Danlos syndrome	PMID:18513683
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R