ACTL7A

Protein identityUniProt · HPA

UniProt accession

Q9Y615

Gene

ACTL7A

Ensembl

ENSG00000187003

Chromosome

9

Canonical length

435 aa

Protein class

Predicted intracellular proteins

Subcellular location

Acrosome

OverviewNCBI Gene

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>Q9Y615|ACTL7A
     1  MWAPPAAIMG DGPTKKVGNQ APLQTQALQT ASLRDGPAKR AVWVRHTSSE PQEPTESKAA
    61  KERPKQEVTK AVVVDLGTGY CKCGFAGLPR PTHKISTTVG KPYMETAKTG DNRKETFVGQ
   121  ELNNTNVHLK LVNPLRHGII VDWDTVQDIW EYLFRQEMKI APEEHAVLVS DPPLSPHTNR
   181  EKYAEMLFEA FNTPAMHIAY QSRLSMYSYG RTSGLVVEVG HGVSYVVPIY EGYPLPSITG
   241  RLDYAGSDLT AYLLGLLNSA GNEFTQDQMG IVEDIKKKCC FVALDPIEEK KVPLSEHTIR
   301  YVLPDGKEIQ LCQERFLCSE MFFKPSLIKS MQLGLHTQTV SCLNKCDIAL KRDLMGNILL
   361  CGGSTMLSGF PNRLQKELSS MCPNDTPQVN VLPERDSAVW TGGSILASLQ GFQPLWVHRF
   421  EYEEHGPFFL YRRCF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACTL7A 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

219 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACTL7A.

Disease | AllUniProt

Conditions ACTL7A is implicated in, by any mechanism.

• Spermatogenic failure 86 (SPGF86) MIM:620499

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 85 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spermatogenic failure 86
• Male infertility with normal semen parameters

ReferencesPubMed · IEDB

Publications for ACTL7A from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

1.33

gnomAD pLI

0

gnomAD missense Z

0.18

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• acrosome assembly
• fertilization
• single fertilization
• spermatid development

Molecular functions

• structural constituent of cytoskeleton

Cellular components

• acrosomal vesicle
• cytoplasm
• cytoskeleton
• Golgi apparatus
• male germ cell nucleus
• motile cilium
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Actin family
• ATPase, nucleotide binding domain
• Actin
• Actin-like protein 7A, N-terminal
• Actin-like protein 7A N-terminus

KeywordsUniProt

• Cytoplasm
• Cytoplasmic vesicle
• Cytoskeleton
• Differentiation
• Fertilization
• Golgi apparatus
• Nucleus
• Spermatogenesis

InteractionsUniProt · HPA

Protein binding partners of ACTL7A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ACTL9
• CYLC1
• ENAH
• TES