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91252 SLC39A13

91252

SLC39A13

solute carrier family 39 member 13

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 39 member 13

研究结论

Date Results Publications
2021-03-27 14:41:00 The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. 32295219
2015-05-16 12:54:00 The spondylocheiro dysplastic form of Ehlers-Danlos syndrome, in which ZIP13 is defective, is likely due to a failure of iron delivery to the secretory compartments. 25006035
2015-04-04 10:45:00 Authors demonstrated that both the ZIP13(G64D) and ZIP13(DeltaFLA) protein levels are decreased by degradation via the valosin-containing protein (VCP)-linked ubiquitin proteasome pathway. 25007800
2013-03-02 10:47:00 human ZIP13 releases zinc from vesicular stores 23213233
2012-01-07 12:45:00 Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome. 21917916

名称对应

Type IDs
Synonymous EDSSPD3, LZT-Hs9, SCDEDS, ZIP13
Gene
UniProtKB-ID: S39AD_HUMAN
UniprotKB: Q96H72
UniParc: UPI00004564C6, UPI00004564C5
EMBL: AK098651, AC090559, CH471064, BC019016, AL133581, BC008853
Ensembl: ENSG00000165915
KO: hsa:91252
Nucleutide sequences
EMBL-CDS: EAW67919.1, AAH19016.1, EAW67918.1, EAW67922.1, EAW67920.1, BAC05365.1, AAH08853.2, EAW67921.1, CAH56389.1, EAW67923.1
Ensembl_TRS: ENST00000362021, ENST00000354884
Protein sequencees
Ensembl_PRO: ENSP00000354689, ENSP00000346956
RefSeq: XP_006718447.1, XP_006718446.1, XP_011518769.1, XP_011518771.1, NP_001317174.2, XP_016874030.1, XP_011518772.1, NP_689477.3, XP_016874029.1, XP_024304530.1, XP_011518770.1, NP_001121697.2, XP_006718444.1, XP_006718448.1, XP_011518768.1
Others
UniRef100: UniRef100_Q96H72
UniRef90: UniRef90_Q96H72
UniRef50: UniRef50_Q96H72
UniGene: Hs.523664
CCDS: CCDS44592.1

全选

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