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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
