P02730

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession B3AT_HUMAN; P02730;
Entrez ID 6521
GenBank Protein ID NM_000342.3; XM_005257593.4;
GenBank Nucleotide ID NP_000333.1; XP_005257650.1;
Protein Name Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233)
Gene Name SLC4A1; AE1; DI; EPB3
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionFunctions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine.
Sequence
(Fasta)
MEELQDDYED MMEENLEQEE YEDPDIPESQ MEEPAAHDTE ATATDYHTTS HPGTHKVYVE 60
LQELVMDEKN QELRWMEAAR WVQLEENLGE NGAWGRPHLS HLTFWSLLEL RRVFTKGTVL 120
LDLQETSLAG VANQLLDRFI FEDQIRPQDR EELLRALLLK HSHAGELEAL GGVKPAVLTR 180
SGDPSQPLLP QHSSLETQLF CEQGDGGTEG HSPSGILEKI PPDSEATLVL VGRADFLEQP 240
VLGFVRLQEA AELEAVELPV PIRFLFVLLG PEAPHIDYTQ LGRAAATLMS ERVFRIDAYM 300
AQSRGELLHS LEGFLDCSLV LPPTDAPSEQ ALLSLVPVQR ELLRRRYQSS PAKPDSSFYK 360
GLDLNGGPDD PLQQTGQLFG GLVRDIRRRY PYYLSDITDA FSPQVLAAVI FIYFAALSPA 420
ITFGGLLGEK TRNQMGVSEL LISTAVQGIL FALLGAQPLL VVGFSGPLLV FEEAFFSFCE 480
TNGLEYIVGR VWIGFWLILL VVLVVAFEGS FLVRFISRYT QEIFSFLISL IFIYETFSKL 540
IKIFQDHPLQ KTYNYNVLMV PKPQGPLPNT ALLSLVLMAG TFFFAMMLRK FKNSSYFPGK 600
LRRVIGDFGV PISILIMVLV DFFIQDTYTQ KLSVPDGFKV SNSSARGWVI HPLGLRSEFP 660
IWMMFASALP ALLVFILIFL ESQITTLIVS KPERKMVKGS GFHLDLLLVV GMGGVAALFG 720
MPWLSATTVR SVTHANALTV MGKASTPGAA AQIQEVKEQR ISGLLVAVLV GLSILMEPIL 780
SRIPLAVLFG IFLYMGVTSL SGIQLFDRIL LLFKPPKYHP DVPYVKRVKT WRMHLFTGIQ 840
IICLAVLWVV KSTPASLALP FVLILTVPLR RVLLPLIFRN VELQCLDADD AKATFDEEEG 900
RDEYDEVAMP V 912

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1PhosphorylationMyotonic muscular dystrophyD448724
[Reference]: A fraction of erythrocyte Band 3 (Mr, 93,000) glycoprotein that demonstrates decreased autophosphorylation in membranes from myotonic muscular dystrophy patients is demonstrated.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 10)
(view all)
MESH:D000141 ; Acidosis, Renal Tubular
MESH:D000743 ; Anemia, Hemolytic
MESH:D004612 ; Elliptocytosis, Hereditary
MESH:D006402 ; Hematologic Diseases
MESH:D008288 ; Malaria
MESH:C566230 ; Ovalocytosis, Malaysian-Melanesian-Filipino Type
HGMD
(count: 96)
(view all)
CD972447; Spherocytosis; Small deletions
CD973100; Spherocytosis; Small deletions
CD962155; Spherocytosis; Small deletions
CD973099; Spherocytosis; Small deletions
CD972450; Spherocytosis; Small deletions
CD962154; Spherocytosis; Small deletions
GWASdb
(count: 8)
(view all)
rs2072081; Red blood cell traits; hematopoietic system disease
rs2857078; Red blood cell traits; hematopoietic system disease
rs5023; Obesity-related traits; obesity
rs5020; LDL cholesterol; atherosclerosis|coronary artery disease
rs5020; Triglycerides; coronary artery disease|lipid metabolism disorder|arteriosclerosis
rs28931583; Breast cancer(er negative); breast cancer

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 26)
(view all)
181       KPAVLTRSGDPSQPL     dbPAF
194       PLLPQHSSLETQLFC     dbPAF
21        ENLEQEEYEDPDIPE     dbPAF
29        EDPDIPESQMEEPAA     dbPAF
303       IDAYMAQSRGELLHS     dbPAF
347       RELLRRRYQSSPAKP     dbPAF
Glycation
(count: 10)
(view all)
116       ELRRVFTKGTVLLDL     PLMD
160       LLRALLLKHSHAGEL     PLMD
174       LEALGGVKPAVLTRS     PLMD
542       ETFSKLIKIFQDHPL     PLMD
592       AMMLRKFKNSSYFPG     PLMD
600       NSSYFPGKLRRVIGD     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource