Search TCDB: (?)
TCDB is operated by the Saier Lab Bioinformatics Group
« See all members of the family


2.A.4.6.1
CDF transporter, ZnT9 (568 aas) (Montanini et al., 2007). Mutations cause autosomal recessive cerebro-renal syndrome and affect intracellular Zinc homeostasis (Perez et al. 2017). Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9, causing a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment (Steel et al. 2023).

Accession Number:Q6PML9
Protein Name:ZnT9
Length:568
Molecular Weight:63515.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:5
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate zinc(2+)

Cross database links:

RefSeq: NP_006336.3   
Entrez Gene ID: 10463   
Pfam: PF01545   
OMIM: 604604  gene
KEGG: hsa:10463    hsa:10463   

Gene Ontology

GO:0005856 C:cytoskeleton
GO:0016021 C:integral to membrane
GO:0005634 C:nucleus
GO:0008324 F:cation transmembrane transporter activity
GO:0000166 F:nucleotide binding
GO:0003700 F:transcription factor activity
GO:0006289 P:nucleotide-excision repair
GO:0045449 P:regulation of transcription
GO:0006350 P:transcription
GO:0055085 P:transmembrane transport
GO:0006829 P:zinc ion transport
GO:0003700 F:sequence-specific DNA binding transcription factor activity
GO:0006351 P:transcription, DNA-dependent

References (6)

[1] “The novel human HUEL (C4orf1) gene maps to chromosome 4p12-p13 and encodes a nuclear protein containing the nuclear receptor interaction motif.”  Sim D.L.C.et.al.   10409434
[2] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.”  Hillier L.W.et.al.   15815621
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “The novel human HUEL (C4orf1) gene maps to chromosome 4p12-p13 and encodes a nuclear protein containing the nuclear receptor interaction motif.”  Sim D.L.C.et.al.   10409434
[5] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.”  Hillier L.W.et.al.   15815621
[6] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
Structure:
2ENK     

External Searches:

Analyze:

Predict TMSs (Predict number of transmembrane segments)
Window Size: Angle:  
FASTA formatted sequence 
1:	MLPGLAAAAA HRCSWSSLCR LRLRCRAAAC NPSDRQEWQN LVTFGSFSNM VPCSHPYIGT 
61:	LSQVKLYSTN VQKEGQGSQT LRVEKVPSFE TAEGIGTELK APLKQEPLQV RVKAVLKKRE 
121:	YGSKYTQNNF ITGVRAINEF CLKSSDLEQL RKIRRRSPHE DTESFTVYLR SDVEAKSLEV 
181:	WGSPEALARE KKLRKEAEIE YRERLFRNQK ILREYRDFLG NTKPRSRTAS VFFKGPGKVV 
241:	MVAICINGLN CFFKFLAWIY TGSASMFSEA IHSLSDTCNQ GLLALGISKS VQTPDPSHPY 
301:	GFSNMRYISS LISGVGIFMM GAGLSWYHGV MGLLHPQPIE SLLWAYCILA GSLVSEGATL 
361:	LVAVNELRRN ARAKGMSFYK YVMESRDPST NVILLEDTAA VLGVIIAATC MGLTSITGNP 
421:	LYDSLGSLGV GTLLGMVSAF LIYTNTEALL GRSIQPEQVQ RLTELLENDP SVRAIHDVKA 
481:	TDLGLGKVRF KAEVDFDGRV VTRSYLEKQD FDQMLQEIQE VKTPEELETF MLKHGENIID 
541:	TLGAEVDRLE KELKKRNPEV RHVDLEIL