Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

AFG1L

AFG1L

protein_coding 6 108,294,892 - 108,526,796 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000135537
Gene type
protein_coding
Chromosome
6
Coordinates
108,294,892 - 108,526,796
Strand
+
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

246269 AFG1 ATPase family gene 1 homolog (S. cerevisiae) CCDS5067 ENST00000368977.9 LACE1 NM_145315 NM_145315.5 Q8WV93 lactation elevated 1

Summary

GENCODE gene_type=protein_coding; HGNC symbol=AFG1L; HGNC name=AFG1 like ATPase; alias_count=10; RefSeq=NM_145315; UniProt=Q8WV93; MANE Select=ENST00000368977.9,NM_145315.5

Source: GENCODE + HGNC complete set

246269 • protein-coding

This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

NCBI Gene

UniProt

Q8WV93 • reviewed

Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408)

AFG1-like ATPase · Mitochondrion membrane

GO annotations

Biological process
  • GO:0035694 mitochondrial protein catabolic process (IMP)
  • GO:0141164 mitochondrial protein quality control (IMP)
  • GO:0007005 mitochondrion organization (IMP)
Cellular component
  • GO:0005737 cytoplasm (IEA)
  • GO:0005737 cytoplasm (IBA)
  • GO:0031966 mitochondrial membrane (IEA)
  • GO:0031966 mitochondrial membrane (IDA)
  • GO:0005739 mitochondrion (IDA)
  • GO:0005739 mitochondrion (HTP)
  • GO:0005739 mitochondrion (IBA)
Molecular function
  • GO:0005524 ATP binding (IEA)
  • GO:0016887 ATP hydrolysis activity (IEA)
  • GO:0016887 ATP hydrolysis activity (IBA)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)

Representative

Representative transcript
ENST00000368977
Representative protein
ENSP00000357973.3
Representative type
CCDS
Candidate count
2

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00001066217 AFG1L-219 nonsense_mediated_decay not available ENSP00000736023.1 6:108,294,892 - 108,522,467 +
ENST00001033490 AFG1L-217 nonsense_mediated_decay not available ENSP00000703307.1 6:108,294,895 - 108,525,541 +
ENST00000908136 AFG1L-208 protein_coding not available ENSP00000578195.1 6:108,294,926 - 108,526,001 +
ENST00000908137 AFG1L-209 protein_coding not available ENSP00000578196.1 6:108,294,926 - 108,526,001 +
ENST00000908138 AFG1L-210 protein_coding not available ENSP00000578197.1 6:108,294,926 - 108,526,001 +
ENST00000908139 AFG1L-211 protein_coding not available ENSP00000578198.1 6:108,294,926 - 108,526,001 +
ENST00000908140 AFG1L-212 protein_coding not available ENSP00000578199.1 6:108,294,926 - 108,526,001 +
ENST00000908141 AFG1L-213 protein_coding not available ENSP00000578200.1 6:108,294,926 - 108,526,001 +
ENST00000908142 AFG1L-214 protein_coding not available ENSP00000578201.1 6:108,294,926 - 108,526,001 +
ENST00000955934 AFG1L-215 protein_coding not available ENSP00000625993.1 6:108,294,926 - 108,526,001 +
ENST00001141446 AFG1L-220 protein_coding not available ENSP00000809485.1 6:108,294,926 - 108,526,001 +
ENST00001033491 AFG1L-218 nonsense_mediated_decay not available ENSP00000703308.1 6:108,294,969 - 108,522,463 +
ENST00000430458 AFG1L-203 protein_coding_CDS_not_defined not available not available 6:108,294,991 - 108,346,990 +
ENST00000368977 AFG1L-201 protein_coding not available ENSP00000357973.3 6:108,295,054 - 108,526,001 +
ENST00000983227 AFG1L-216 nonsense_mediated_decay not available ENSP00000653044.1 6:108,295,070 - 108,524,823 +
ENST00000421954 AFG1L-202 protein_coding not available ENSP00000398225.1 6:108,295,201 - 108,523,117 +
ENST00000437715 AFG1L-205 protein_coding not available ENSP00000392085.1 6:108,295,753 - 108,356,751 +
ENST00000431865 AFG1L-204 nonsense_mediated_decay not available ENSP00000415484.1 6:108,356,690 - 108,522,334 +
ENST00000486863 AFG1L-207 retained_intron not available not available 6:108,476,979 - 108,522,465 +
ENST00000481842 AFG1L-206 protein_coding_CDS_not_defined not available not available 6:108,523,137 - 108,526,796 +

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.