Reactome will be unavailable due to host maintenance from Friday, April 27 at 6pm to Sunday, April 29 at 11:55pm.

During the outage, you may wish to use our mirror site at reactome.ncpsb.org.

SLC4A1 G701D

Stable Identifier
R-HSA-5657836
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Band 3 anion transport protein, B3AT_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC4A1, AE1, DI, EPB3
Chain
chain:1-911
Other Identifiers
0006550039
11726489_at
11726490_a_at
11726491_at
11758430_s_at
1552713_a_at
15584
16845623
1BH7
1BNX
1BTQ
1BTR
1BTS
1BTT
1BZK
1HYN
205592_at
2BTA
2BTB
33336_at
34438
3759020
3759021
3759022
3759023
3759024
3759025
3759026
3759027
3759029
3759032
3759034
3759036
3759037
3759039
3759040
3759042
3759043
3759044
3759045
3759046
3759048
3759049
3759050
3759051
3759053
3759054
3BTB
4KY9
4YZF
63911
6521
8015991
A_23_P77980
A_23_P89380
A_24_P385190
A_33_P3400217
CAB034438
CCDS11481
ENSG00000004939
ENSP00000262418
ENST00000262418
EntrezGene:6521
GE62780
GO:0005215
GO:0005452
GO:0005515
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006820
GO:0006821
GO:0006873
GO:0008509
GO:0008510
GO:0015106
GO:0015108
GO:0015301
GO:0015701
GO:0016020
GO:0016021
GO:0016323
GO:0030018
GO:0030506
GO:0030863
GO:0035725
GO:0042803
GO:0043495
GO:0051453
GO:0070062
GO:0072562
GO:0098656
GO:1902476
HGNC:11027
HPA015584
HPA063911
Hs.185923.0.S2_3p_at
Hs.443948
Hs2.185923.1.S1_3p_s_at
ILMN_1772809
ILMN_3217354
ILMN_3285762
M27819_at
MIM:109270
MIM:110500
MIM:112010
MIM:112050
MIM:166900
MIM:179800
MIM:185020
MIM:601550
MIM:601551
MIM:611162
MIM:611590
MIM:612653
NM_000342
NP_000333
PF00955
PF07565
PH_hs_0025935
PR00165
PR01187
PR01231
SLC4A1
SLC4A1-201
TC17001577.hg
uc002igf.5
UPI00000375B8
V9H0V9
X77737_at
XM_005257593
XM_011525129
XM_011525130
XP_005257650
XP_011523431
XP_011523432
Participant Of
Other forms of this molecule
Modified Residues
Name
glycine 701 replaced with L-aspartic acid
Coordinate
701
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
renal tubular acidosis 14219
hemolytic anemia 583 Hemolytic anemias (disorder), Hemolytic anemia (disorder), Hemolytic anemias NOS (disorder), hemolytic anemia, ANEMIA HEMOLYTIC
Cross References
GeneCards
DOCK Blaster
PRO
Orphanet
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P18031 PTPN1  1 0.499 2