full name
solute carrier family 4 member 1 (Diego blood group)

synonyms
AE1, BND3, CD233, DI, EMPB3, EPB3, FR, RTA1A, SW, WD, WD1, WR, SLC4A1, ENSG00000004939

HGNC
HGNC:11027

Entrez Gene
Gene:6521

ENSEMBL
ENSG00000004939

location
chr: 17
start: 42325758
stop: 42351654
strand: -

OMIM
OMIM:109270: SLC4A1
OMIM:185020: Cryohydrocytosis
OMIM:166900: Ovalocytosis, SA type
OMIM:179800: Renal tubular acidosis, distal, AD
OMIM:611590: Renal tubular acidosis, distal, AR
OMIM:612653: Spherocytosis, type 4
OMIM:110500: [Blood group, Diego]
OMIM:601551: [Blood group, Froese]
OMIM:601550: [Blood group, Swann]
OMIM:112010: [Blood group, Waldner]
OMIM:112050: [Blood group, Wright]
OMIM:611162: [Malaria, resistance to]

transcripts
NM_000342.3

pathways
Bicarbonate transporters [NCBI:1269909] [REACTOME:R-HSA-425381] [PUBMED:19099540] [PUBMED:14722772]
Collecting duct acid secretion [NCBI:147586] [KEGG:hsa04966] [PUBMED:11045400] [PUBMED:19948674] [PUBMED:16352913] [PUBMED:11826292] [PUBMED:19721811] [PUBMED:17557941] [PUBMED:9550618] [PUBMED:19277700]
Erythrocytes take up carbon dioxide and release oxygen [NCBI:1270224] [REACTOME:R-HSA-1237044] [PUBMED:19879980] [PUBMED:15491402] [PUBMED:10747205]
Erythrocytes take up oxygen and release carbon dioxide [NCBI:1270225] [REACTOME:R-HSA-1247673] [PUBMED:15491402] [PUBMED:19879980] [PUBMED:16679072]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
O2/CO2 exchange in erythrocytes [NCBI:1270223] [REACTOME:R-HSA-1480926] [PUBMED:9050246] [PUBMED:10747205] [PUBMED:19879980] [PUBMED:15491402] [PUBMED:16679072] [PUBMED:17573207]
SLC-mediated transmembrane transport [NCBI:1269907] [REACTOME:R-HSA-425407] [PUBMED:14624363] [PUBMED:19164095]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]
Transport of inorganic cations/anions and amino acids/oligopeptides [NCBI:1269908] [REACTOME:R-HSA-425393] [PUBMED:19164095] [PUBMED:16461757] [PUBMED:18195086] [PUBMED:18400693] [PUBMED:17581921] [PUBMED:12845533] [PUBMED:18690016] [PUBMED:16955105] [PUBMED:17693766] [PUBMED:12759754] [PUBMED:12739168] [PUBMED:12734757]