Official symbol | ATP2C1 |
Gene id | 27032 |
Organism | Homo sapiens |
Official full symbol | ATPase secretory pathway Ca2+ transporting 1 |
Gene type | protein-coding |
Also known as | ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1 |
Summary | The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. |
Genomic regions | Chromosome 3 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
ATP2C1-218 | ENST00000510168.6 | 4994 | 919aa | Protein coding | CCDS46914 | P98194-1 | NM_001378687.1 | TSL:5, GENCODE basic, APPRIS ALT1, MANE Select v0.92, |
ATP2C1-214 | ENST00000508532.5 | 4969 | 919aa | Protein coding | CCDS46914 | P98194-1 | - | TSL:1, GENCODE basic, APPRIS ALT1, |
ATP2C1-210 | ENST00000505330.5 | 4888 | 953aa | Protein coding | CCDS75006 | B4E2Q0 | - | TSL:2, GENCODE basic, |
ATP2C1-204 | ENST00000428331.6 | 4795 | 919aa | Protein coding | CCDS46914 | P98194-1 | - | TSL:1, GENCODE basic, APPRIS ALT1, |
ATP2C1-208 | ENST00000504948.5 | 4714 | 903aa | Protein coding | CCDS56281 | P98194-4 | - | TSL:1, GENCODE basic, APPRIS P4, |
ATP2C1-224 | ENST00000533801.6 | 3690 | 888aa | Protein coding | CCDS46913 | P98194-2 | - | TSL:1, GENCODE basic, |
ATP2C1-212 | ENST00000507488.6 | 3579 | 973aa | Protein coding | CCDS56278 | P98194-7 | - | TSL:2, GENCODE basic, |
ATP2C1-205 | ENST00000504381.5 | 3498 | 944aa | Protein coding | CCDS56279 | P98194-8 | - | TSL:2, GENCODE basic, |
ATP2C1-201 | ENST00000328560.12 | 3484 | 888aa | Protein coding | CCDS46913 | P98194-2 | - | TSL:1, GENCODE basic, |
ATP2C1-221 | ENST00000513801.5 | 3439 | 923aa | Protein coding | CCDS56280 | P98194-3 | - | TSL:1, GENCODE basic, |
ATP2C1-202 | ENST00000359644.7 | 3401 | 949aa | Protein coding | CCDS33856 | P98194-9 | - | TSL:1, GENCODE basic, |
ATP2C1-203 | ENST00000422190.6 | 3386 | 939aa | Protein coding | CCDS46912 | P98194-5 | - | TSL:1, GENCODE basic, |
ATP2C1-207 | ENST00000504612.5 | 3148 | 903aa | Protein coding | - | H0Y9V7 | - | CDS 5' incomplete, TSL:2, |
ATP2C1-215 | ENST00000508660.5 | 943 | 314aa | Protein coding | - | H0Y9S7 | - | CDS 5' and 3' incomplete, TSL:5, |
ATP2C1-223 | ENST00000515854.5 | 561 | 131aa | Protein coding | - | D6R9U9 | - | CDS 3' incomplete, TSL:4, |
ATP2C1-217 | ENST00000509662.5 | 559 | 102aa | Protein coding | - | D6REJ1 | - | CDS 3' incomplete, TSL:4, |
ATP2C1-209 | ENST00000505072.5 | 556 | 120aa | Protein coding | - | D6RHV9 | - | CDS 3' incomplete, TSL:4, |
ATP2C1-213 | ENST00000508297.2 | 540 | 82aa | Protein coding | - | D6RGE9 | - | CDS 3' incomplete, TSL:4, |
ATP2C1-206 | ENST00000504571.5 | 786 | 215aa | Nonsense mediated decay | - | H0Y8X9 | - | CDS 5' incomplete, TSL:3, |
ATP2C1-211 | ENST00000507194.1 | 651 | 50aa | Nonsense mediated decay | - | H0YAH2 | - | CDS 5' incomplete, TSL:3, |
ATP2C1-216 | ENST00000509150.1 | 573 | No protein | Processed transcript | - | - | - | TSL:3, |
ATP2C1-222 | ENST00000514654.5 | 4730 | No protein | Retained intron | - | - | - | TSL:1, |
ATP2C1-220 | ENST00000513636.1 | 590 | No protein | Retained intron | - | - | - | TSL:4, |
ATP2C1-219 | ENST00000510774.1 | 555 | No protein | Retained intron | - | - | - | TSL:4, |
Target Gene | ATP2C1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene ATP2C1 had been KO in hek293t cell line. |
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