KEGG   Homo sapiens (human): 348938
Entry
348938            CDS       T01001                                 
Symbol
NIPAL4, ARCI6, ICHTHYIN, ICHYN, NIPA4, SLC57A6
Name
(RefSeq) NIPA like domain containing 4
  KO
K22733  magnesium transporter
Organism
hsa  Homo sapiens (human)
Disease
H00734  Autosomal recessive congenital ichthyosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    348938 (NIPAL4)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC57: NiPA-like magnesium transporter
   348938 (NIPAL4)
SSDB
Motif
Pfam: Mg_trans_NIPA EamA DUF5392 CRPA PycTM
Other DBs
NCBI-GeneID: 348938
NCBI-ProteinID: NP_001092757
OMIM: 609383
HGNC: 28018
Ensembl: ENSG00000172548
UniProt: Q0D2K0
LinkDB
Position
5:157460213..157474722
AA seq 404 aa
MELRVSNTSCENGSLLHLYCSSQEVLCQIVNDLSPEVPSNATFHSWQERIRQNYGFYIGL
GLAFLSSFLIGSSVILKKKGLLRLVATGATRAVDGGFGYLKDAMWWAGFLTMAAGEVANF
GAYAFAPATVVTPLGALSVLISAILSSYFLRESLNLLGKLGCVICVAGSTVMVIHAPEEE
KVTTIMEMASKMKDTGFIVFAVLLLVSCLILIFVIAPRYGQRNILIYIIICSVIGAFSVA
AVKGLGITIKNFFQGLPVVRHPLPYILSLILALSLSTQVNFLNRALDIFNTSLVFPIYYV
FFTTVVVTSSIILFKEWYSMSAVDIAGTLSGFVTIILGVFMLHAFKDLDISCASLPHMHK
NPPPSPAPEPTVIRLEDKNVLVDNIELASTSSPEEKPKVFIIHS
NT seq 1215 nt   +upstreamnt  +downstreamnt
atggagctgcgggtcagcaacaccagctgcgagaacggttccctgctccacctctactgc
tcctcccaagaagtcctgtgccagattgtcaatgacctcagccctgaggtgcccagcaat
gccacctttcacagctggcaggaaagaatcaggcagaactatggcttctacatcggcctg
ggcctggcattcctgtctagcttcctcatcggcagcagcgtcatcctcaagaagaaaggc
ctcttgcgactcgtggccacgggagccactcgagctgtggatggaggcttcggctacctg
aaagatgcaatgtggtgggctggatttctcaccatggctgctggagaagttgccaacttt
ggagcctacgcatttgcacctgcaacagtcgtcacgcctctgggagcgctgagtgtcctc
ataagtgccatcctctcctcatatttcctgagggagagtctgaacctgctggggaagctg
ggctgtgtgatctgtgtggccggaagcacagtgatggtgatacatgctcctgaggaagag
aaggtcactaccatcatggagatggcttccaagatgaaagacacagggttcatcgtgttt
gctgtgcttctgctggtgtcatgcctcatcctcatctttgtcattgccccacgttacggg
caaaggaatatcctcatctacatcatcatctgctctgtgatcggggccttctctgtggct
gctgtcaaggggctgggcatcaccatcaagaacttcttccaggggctgccagttgtccgg
cacccgctcccctacatcctgtccctcatcctggcactgtccctcagcactcaggtcaac
ttcctcaacagagcactggacattttcaacacttccctggtgttccccatctactacgtg
ttcttcaccacggtggtcgttacctcgtccatcatcctcttcaaggagtggtacagcatg
tctgctgtggacattgcaggcaccctctcgggctttgtcaccatcatcttgggcgtgttc
atgctgcatgctttcaaagacctggacatcagctgcgccagcttgccccacatgcacaaa
aacccacccccttctcccgccccggaacccactgttattagactggaagacaagaacgtc
cttgtggacaatatagaacttgccagcacctcatcaccagaagagaaacccaaagtattt
ataatccattcctga

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