Description
phosphofructokinase, muscle [Source:HGNC Symbol;Acc:8877]
Gene Synonyms
GSD7, PFK-1, PFK1, PFKA, PFKX
Location
Chromosome 12: 48,498,922-48,540,187 forward strand.
GRCh37:CM000674.1
About this gene
This gene has 32 transcripts (splice variants), 2 paralogues and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000340802.6 | PFKM-001 | 3176 | 851aa | ENSP00000345771.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53786 | F8VNX2 F8VSL1 F8VUB8 F8VW30 F8VYK8 F8VZQ1 F8W1J8 P08237 P78457 Q7KYX9 | NM_001166686.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000312352.7 | PFKM-201 | 3078 | 780aa | ENSP00000309438.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8760 | F8VNX2 F8VSL1 F8VW30 F8VZQ1 F8W1J8 P08237 P78457 Q7KYX9 | NM_001166687.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000359794.5 | PFKM-002 | 2928 | 780aa | ENSP00000352842.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8760 | F8VNX2 F8VSL1 F8VW30 F8VZQ1 F8W1J8 P08237 P78457 Q7KYX9 | NM_000289.5 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000547587.1 | PFKM-005 | 2867 | 780aa | ENSP00000449426.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8760 | F8VNX2 F8VSL1 F8VW30 F8VZQ1 F8W1J8 P08237 P78457 Q7KYX9 | NM_001166688.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000551804.1 | PFKM-006 | 2797 | 749aa | ENSP00000448177.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VNX2 F8VSL1 F8VW30 F8VZQ1 F8W1J8 P08237 P78457 Q7KYX9 Q96I60 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000395233.2 | PFKM-202 | 2683 | 749aa | ENSP00000378656.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VNX2 F8VSL1 F8VW30 F8VZQ1 F8W1J8 P08237 P78457 Q7KYX9 Q96I60 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000550345.1 | PFKM-008 | 762 | 157aa | ENSP00000450369.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VNX2 F8VSL1 F8VW30 F8W1J8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000552792.1 | PFKM-013 | 626 | 149aa | ENSP00000448940.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VUB8 F8VYK8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000549003.1 | PFKM-009 | 594 | 116aa | ENSP00000449835.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VW30 F8W1J8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000549941.1 | PFKM-010 | 594 | 152aa | ENSP00000446829.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VW30 F8VZI0 F8W1J8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000546755.1 | PFKM-012 | 590 | 125aa | ENSP00000450173.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VNZ1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000546465.1 | PFKM-020 | 585 | 176aa | ENSP00000446519.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VP00 P78457 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000548288.1 | PFKM-029 | 582 | 141aa | ENSP00000448018.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VUB8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000550257.1 | PFKM-011 | 571 | 149aa | ENSP00000447997.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VTQ3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000549022.1 | PFKM-014 | 571 | 161aa | ENSP00000446805.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VNX2 F8VSL1 F8VW30 F8VZQ1 F8W1J8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000549366.1 | PFKM-007 | 570 | 165aa | ENSP00000449622.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VNZ1 F8VVE3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000551339.1 | PFKM-030 | 526 | 139aa | ENSP00000448253.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VSL1 F8VW30 F8W1J8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000548345.1 | PFKM-019 | 492 | 156aa | ENSP00000449269.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VSL1 F8VW30 F8VX13 F8W1J8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000550924.1 | PFKM-028 | 452 | 84aa | ENSP00000446945.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W1J8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000553055.1 | PFKM-024 | 289 | 97aa | ENSP00000450091.1 | 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, | |
| ENST00000547581.1 | PFKM-003 | 3579 | 176aa | ENSP00000447992.1 | Nonsense mediated decay | F8VNZ1 F8VSF5 F8VTT5 | - | - | |
| ENST00000552752.1 | PFKM-025 | 887 | 41aa | ENSP00000446740.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000551485.1 | PFKM-018 | 689 | 102aa | ENSP00000448315.1 | Nonsense mediated decay | F8VSF7 | - | - | |
| ENST00000547066.1 | PFKM-015 | 616 | 73aa | ENSP00000448318.1 | Nonsense mediated decay | F8VSF5 | - | - | |
| ENST00000552989.1 | PFKM-021 | 580 | 59aa | ENSP00000447774.1 | Nonsense mediated decay | F8VZ53 | - | - | |
| ENST00000551548.1 | PFKM-017 | 542 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000546964.1 | PFKM-004 | 3063 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000547148.1 | PFKM-026 | 775 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000548720.1 | PFKM-016 | 630 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000550802.1 | PFKM-027 | 626 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000552818.1 | PFKM-022 | 588 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000552214.1 | PFKM-023 | 425 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
