Description
ATPase, Ca++ transporting, type 2C, member 1 [Source:HGNC Symbol;Acc:13211]
Gene Synonyms
ATP2C1A, BCPM, HHD, KIAA1347, PMR1, PMR1L, SPCA1, hSPCA1
Location
Chromosome 3: 130,569,439-130,735,556 forward strand.
GRCh37:CM000665.1
About this gene
This gene has 25 transcripts (splice variants), 4 paralogues and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000510168.1 | ATP2C1-008 | 5067 | 919aa | ENSP00000427461.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46914 | D6R9U9 D6REJ1 D6RGE9 D6RHV9 P98194 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000508532.1 | ATP2C1-001 | 4969 | 919aa | ENSP00000424783.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46914 | D6R9U9 D6REJ1 D6RGE9 D6RHV9 P98194 | NM_001199179.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000505330.1 | ATP2C1-009 | 4888 | 903aa | ENSP00000423774.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56281 | D6R9U9 D6RGE9 P98194 | NM_001199181.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000428331.2 | ATP2C1-011 | 4795 | 919aa | ENSP00000395809.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46914 | D6R9U9 D6REJ1 D6RGE9 D6RHV9 P98194 | NM_014382.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000504948.1 | ATP2C1-004 | 4714 | 903aa | ENSP00000423330.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56281 | D6R9U9 D6RGE9 P98194 | NM_001199184.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000507488.2 | ATP2C1-010 | 3579 | 923aa | ENSP00000421326.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56280 | D6R9U9 D6RGE9 P98194 | NM_001199180.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000504381.1 | ATP2C1-007 | 3498 | 894aa | ENSP00000425320.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6R9U9 E7ERC6 | NM_001199182.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000328560.8 | ATP2C1-002 | 3484 | 888aa | ENSP00000329664.8 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46913 | D6R9U9 D6REJ1 D6RGE9 D6RHV9 P98194 | NM_001199185.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000393221.4 | ATP2C1-201 | 3446 | 973aa | ENSP00000376914.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56278 | D6R9U9 D6RGE9 P98194 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000513801.1 | ATP2C1-003 | 3439 | 923aa | ENSP00000422872.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56280 | D6R9U9 D6RGE9 P98194 | NM_001199183.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000359644.3 | ATP2C1-005 | 3401 | 949aa | ENSP00000352665.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33856 | D6R9U9 D6REJ1 D6RGE9 D6RHV9 P98194 | NM_001001486.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000422190.2 | ATP2C1-020 | 3386 | 939aa | ENSP00000402677.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46912 | D6R9U9 D6REJ1 D6RGE9 D6RHV9 P98194 | NM_001001487.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000533801.2 | ATP2C1-202 | 3277 | 944aa | ENSP00000432956.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56279 | D6R9U9 E7ERC6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000504612.1 | ATP2C1-006 | 3148 | 903aa | ENSP00000425228.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6R9U9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000508660.1 | ATP2C1-017 | 943 | 314aa | ENSP00000424930.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000515854.1 | ATP2C1-019 | 561 | 131aa | ENSP00000422890.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6R9U9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000509662.1 | ATP2C1-014 | 559 | 102aa | ENSP00000426849.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6REJ1 D6RGE9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000505072.1 | ATP2C1-021 | 556 | 120aa | ENSP00000427625.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6REJ1 D6RGE9 D6RHV9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000508297.1 | ATP2C1-015 | 540 | 82aa | ENSP00000421261.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6RGE9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000504571.1 | ATP2C1-013 | 786 | 215aa | ENSP00000422489.1 | Nonsense mediated decay | H0Y8X9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000507194.1 | ATP2C1-018 | 651 | 50aa | ENSP00000427087.1 | Nonsense mediated decay | H0YAH2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000509150.1 | ATP2C1-023 | 573 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000514654.1 | ATP2C1-012 | 4730 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000513636.1 | ATP2C1-016 | 590 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000510774.1 | ATP2C1-022 | 555 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
