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2.A.7.25.1
The nonimprinted in Prader-Willi/Angelman syndrome, subtype 1, NIPA1 Mg2+ uptake permease (329aas; 9TMSs) (Quamme, 2009)

Accession Number:Q7RTP0
Protein Name:NIPA1
Length:329
Molecular Weight:34562.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:8
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate Mg2+

Cross database links:

Genevestigator: Q7RTP0
HEGENOM: HBG390220
RefSeq: NP_001135747.1    NP_653200.2   
Entrez Gene ID: 123606   
Pfam: PF05653   
OMIM: 600363  phenotype
608145  gene
KEGG: hsa:123606   

Gene Ontology

GO:0005769 C:early endosome
GO:0016021 C:integral to membrane
GO:0005886 C:plasma membrane
GO:0008219 P:cell death
GO:0006811 P:ion transport

References (7)

[1] “Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.”  Chai J.-H.et.al.   14508708
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[3] “The full-ORF clone resource of the German cDNA consortium.”  Bechtel S.et.al.   17974005
[4] “Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins.”  Toyoda N.et.al.   12805275
[5] “Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.”  Liu T.et.al.   16335952
[6] “NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).”  Rainier S.et.al.   14508710
[7] “Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.”  Chen S.et.al.   15643603

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
Window Size: Angle:  
Window Size: Angle:  
FASTA formatted sequence
1:	MGTAAAAAAA AAAAAAGEGA RSPSPAAVSL GLGVAVVSSL VNGSTFVLQK KGIVRAKRRG 
61:	TSYLTDIVWW AGTIAMAVGQ IGNFLAYTAV PTVLVTPLGA LGVPFGSILA SYLLKEKLNI 
121:	LGKLGCLLSC AGSVVLIIHS PKSESVTTQA ELEEKLTNPV FVGYLCIVLL MLLLLIFWIA 
181:	PAHGPTNIMV YISICSLLGS FTVPSTKGIG LAAQDILHNN PSSQRALCLC LVLLAVLGCS 
241:	IIVQFRYINK ALECFDSSVF GAIYYVVFTT LVLLASAILF REWSNVGLVD FLGMACGFTT 
301:	VSVGIVLIQV FKEFNFNLGE MNKSNMKTD