Seroatlas · Human Serome Atlas

AFG1L

AFG1-like ATPase

Also known as: AFG1, AFG1L_HUMAN, LACE1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WV93
Gene: AFG1L
Ensembl: ENSG00000135537
Chromosome: 6
Canonical length: 481 aa
Protein class: Predicted intracellular proteins
Secretome location: Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

481 residues, UniProt reviewed canonical sequence.

>Q8WV93|AFG1L
     1  MAASWSLLVT LRPLAQSPLR GRCVGCGAWA AALAPLATAP GKPFWKAYTV QTSESMTPTA
    61  TSETYLKALA VCHGPLDHYD FLIKAHELKD DEHQRRVIQC LQKLHEDLKG YNIEAEGLFS
   121  KLFSRSKPPR GLYVYGDVGT GKTMVMDMFY AYVEMKRKKR VHFHGFMLDV HKRIHRLKQS
   181  LPKRKPGFMA KSYDPIAPIA EEISEEACLL CFDEFQVTDI ADAMILKQLF ENLFKNGVVV
   241  VATSNRPPED LYKNGLQRAN FVPFIAVLKE YCNTVQLDSG IDYRKRELPA AGKLYYLTSE
   301  ADVEAVMDKL FDELAQKQND LTRPRILKVQ GRELRLNKAC GTVADCTFEE LCERPLGASD
   361  YLELSKNFDT IFLRNIPQFT LANRTQGRRF ITLIDNFYDL KVRIICSAST PISSLFLHQH
   421  HDSELEQSRI LMDDLGLSQD SAEGLSMFTG EEEIFAFQRT ISRLTEMQTE QYWNEGDRTK
   481  K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFG1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 10 nTPM

Expression across tissuesHPA

Tissue

testis: 10 nTPM
parathyroid gland: 5 nTPM
kidney: 4.7 nTPM
heart muscle: 4.1 nTPM
duodenum: 3.9 nTPM
tongue: 3.8 nTPM

Single-cell type

early spermatids: 755 nCPM
late primary spermatocytes: 501 nCPM
ependymal cells: 164 nCPM
choroid plexus epithelial cells: 160 nCPM
myonuclei: 154 nCPM
distal convoluted tubule cells: 114 nCPM

Immune cell

non-classical monocyte: 4.3 nTPM
naive B-cell: 3.4 nTPM
eosinophil: 2.7 nTPM
memory B-cell: 2.5 nTPM
NK-cell: 2.4 nTPM
T-reg: 2.3 nTPM

Brain region

cerebral cortex: 13 nTPM
white matter: 13 nTPM
choroid plexus: 13 nTPM
thalamus: 13 nTPM
basal ganglia: 12 nTPM
amygdala: 12 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.96
gnomAD pLI: 0
DepMap mean gene effect: 0.11
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

P-loop containing nucleoside triphosphate hydrolase
ATPase, AFG1-like
AFG1-like ATPase

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AFG1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AFG1L as an antibody target. Whether an autoantibody or antibody against AFG1L could matter depends on whether native AFG1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AFG1L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AFG1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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