KEGG   Homo sapiens (human): 6521
Entry
6521              CDS       T01001                                 

Gene name
SLC4A1, AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
Definition
(RefSeq) solute carrier family 4 member 1 (Diego blood group)
  KO
K06573  solute carrier family 4 (anion exchanger), member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04966  Collecting duct acid secretion
Disease
H00230  Hereditary spherocytosis
H00231  Hereditary elliptocytosis
H00232  Hereditary stomatocytosis
H00428  Distal renal tubular acidosis (RTA type 1)
H01720  Southeast Asian ovalocytosis
H02002  Cryohydrocytosis
H02310  Renal tubular acidosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09155 Excretory system
   04966 Collecting duct acid secretion
    6521 (SLC4A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6521 (SLC4A1)
   04147 Exosome [BR:hsa04147]
    6521 (SLC4A1)
   04090 CD molecules [BR:hsa04090]
    6521 (SLC4A1)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC4: Bicarbonate transporter
   6521 (SLC4A1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   6521 (SLC4A1)
CD molecules [BR:hsa04090]
 Proteins
  6521 (SLC4A1)
SSDB
Motif
Pfam: HCO3_cotransp Band_3_cyto
Other DBs
NCBI-GeneID: 6521
NCBI-ProteinID: NP_000333
OMIM: 109270
HGNC: 11027
Ensembl: ENSG00000004939
Vega: OTTHUMG00000156843
Pharos: P02730(Tbio)
UniProt: P02730
Structure
PDB: 

Position
17q21.31
AA seq 911 aa
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVE
LQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVL
LDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTR
SGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYM
AQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYK
GLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPA
ITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKL
IKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGK
LRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFP
IWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFG
MPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPIL
SRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQ
IICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEG
RDEYDEVAMPV
NT seq 2736 nt   +upstreamnt  +downstreamnt
atggaggagctgcaggatgattatgaagacatgatggaggagaatctggagcaggaggaa
tatgaagacccagacatccccgagtcccagatggaggagccggcagctcacgacaccgag
gcaacagccacagactaccacaccacatcacacccgggtacccacaaggtctatgtggag
ctgcaggagctggtgatggacgaaaagaaccaggagctgagatggatggaggcggcgcgc
tgggtgcaactggaggagaacctgggggagaatggggcctggggccgcccgcacctctct
cacctcaccttctggagcctcctagagctgcgtagagtcttcaccaagggtactgtcctc
ctagacctgcaagagacctccctggctggagtggccaaccaactgctagacaggtttatc
tttgaagaccagatccggcctcaggaccgagaggagctgctccgggccctgctgcttaaa
cacagccacgctggagagctggaggccctggggggtgtgaagcctgcagtcctgacacgc
tctggggatccttcacagcctctgctcccccaacactcctcactggagacacagctcttc
tgtgagcagggagatgggggcacagaagggcactcaccatctggaattctggaaaagatt
cccccggattcagaggccacgttggtgctagtgggccgcgccgacttcctggagcagccg
gtgctgggcttcgtgaggctgcaggaggcagcggagctggaggcggtggagctgccggtg
cctatacgcttcctctttgtgttgctgggacctgaggccccccacatcgattacacccag
cttggccgggctgctgccaccctcatgtcagagagggtgttccgcatagatgcctacatg
gctcagagccgaggggagctgctgcactccctagagggcttcctggactgcagcctagtg
ctgcctcccaccgatgccccctccgagcaggcactgctcagtctggtgcctgtgcagagg
gagctacttcgaaggcgctatcagtccagccctgccaagccagactccagcttctacaag
ggcctagacttaaatgggggcccagatgaccctctgcagcagacaggccagctcttcggg
ggcctggtgcgtgatatccggcgccgctacccctattacctgagtgacatcacagatgca
ttcagcccccaggtcctggctgccgtcatcttcatctactttgctgcactgtcacccgcc
atcaccttcggcggcctcctgggagaaaagacccggaaccagatgggagtgtcggagctg
ctgatctccactgcagtgcagggcattctcttcgccctgctgggggctcagcccctgctt
gtggtcggcttctcaggacccctgctggtgtttgaggaagccttcttctcgttctgcgag
accaacggtctagagtacatcgtgggccgcgtgtggatcggcttctggctcatcctgctg
gtggtgttggtggtggccttcgagggtagcttcctggtccgcttcatctcccgctatacc
caggagatcttctccttcctcatttccctcatcttcatctatgagactttctccaagctg
atcaagatcttccaggaccacccactacagaagacttataactacaacgtgttgatggtg
cccaaacctcagggccccctgcccaacacagccctcctctcccttgtgctcatggccggt
accttcttctttgccatgatgctgcgcaagttcaagaacagctcctatttccctggcaag
ctgcgtcgggtcatcggggacttcggggtccccatctccatcctgatcatggtcctggtg
gatttcttcattcaggatacctacacccagaaactctcggtgcctgatggcttcaaggtg
tccaactcctcagcccggggctgggtcatccacccactgggcttgcgttccgagtttccc
atctggatgatgtttgcctccgccctgcctgctctgctggtcttcatcctcatattcctg
gagtctcagatcaccacgctgattgtcagcaaacctgagcgcaagatggtcaagggctcc
ggcttccacctggacctgctgctggtagtaggcatgggtggggtggccgccctctttggg
atgccctggctcagtgccaccaccgtgcgttccgtcacccatgccaacgccctcactgtc
atgggcaaagccagcaccccaggggctgcagcccagatccaggaggtcaaagagcagcgg
atcagtggactcctggtcgctgtgcttgtgggcctgtccatcctcatggagcccatcctg
tcccgcatccccctggctgtactgtttggcatcttcctctacatgggggtcacgtcgctc
agcggcatccagctctttgaccgcatcttgcttctgttcaagccacccaagtatcaccca
gatgtgccctacgtcaagcgggtgaagacctggcgcatgcacttattcacgggcatccag
atcatctgcctggcagtgctgtgggtggtgaagtccacgccggcctccctggccctgccc
ttcgtcctcatcctcactgtgccgctgcggcgcgtcctgctgccgctcatcttcaggaac
gtggagcttcagtgtctggatgctgatgatgccaaggcaacctttgatgaggaggaaggt
cgggatgaatacgacgaagtggccatgcctgtgtga

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