RBCC Red Blood Cell Collection

ANK1_HUMAN

Source: hRBCD ; ID: IPI00216697
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: ANK1 , ANK
Protein names and data: ANK1_HUMAN , Ankyrin-1; ANK-1 , Ankyrin-R; Erythrocyte ankyrin Lenght: 1881 a.a.
Mass: 206265 Da
fasta formatted sequence
Function: Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
Disease: ( OMIM: 182900 612641 ) Spherocytosis 1 (SPH1) [MIM:182900]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane. Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells. Isoform Mu18: Sarcoplasmic reticulum (Probable). Isoform Mu19: Sarcoplasmic reticulum (Probable). Isoform Mu20: Sarcoplasmic reticulum (Probable).
Tissue specificity: Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.

Genetic variants

21 - 21 R -> T. VAR_000595
276 - 276 L -> R (in SPH1). VAR_054991
332 - 332 D -> H (in a breast cancer sample; somatic mutation). VAR_035605
463 - 463 V -> I (in SPH1). VAR_000596
619 - 619 R -> H (in Brueggen; dbSNP:rs2304877). VAR_000597 2304877
733 - 733 L -> I (in dbSNP:rs11778936). VAR_028769 11778936
750 - 750 V -> A. VAR_000598
832 - 832 R -> Q (in dbSNP:rs34523608). VAR_061012 34523608
845 - 845 D -> E. VAR_000599
991 - 991 V -> L. VAR_026411
1054 - 1054 I -> T (in SPH1). VAR_054992
1075 - 1075 T -> I (in dbSNP:rs35213384). VAR_048263 35213384
1126 - 1126 A -> P (in dbSNP:rs504465). VAR_028770 504465
1192 - 1192 T -> P (in dbSNP:rs486770). VAR_028771 486770
1286 - 1286 E -> D. VAR_000601
1325 - 1325 M -> V (in dbSNP:rs10093583). VAR_028772 10093583
1392 - 1392 S -> T. VAR_000600
1546 - 1546 V -> I (in dbSNP:rs1060130). VAR_028773 1060130
1592 - 1592 D -> N (in Duesseldorf). VAR_000602

Database cross-references

UniProt: P16157
Ensembl: ENST00000265709
Ensembl: ENST00000289734
Ensembl: ENST00000314214
Ensembl: ENST00000347528
Ensembl: ENST00000348036
Ensembl: ENST00000352337
Ensembl: ENST00000379758
Ensembl: ENST00000396942
Ensembl: ENST00000396945
Ensembl: ENST00000457297
Ensembl: ENST00000522543
MIM: 182900
MIM: 612641
neXtProt: NX_P16157
Antibodypedia: P16157 (may not find the protein thus also not any antibody)
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