ACTL7B
Actin-like protein 7B
Also known as: ACL7B_HUMAN, Tact1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y614
- Gene
- ACTL7B
- Ensembl
- ENSG00000148156
- Chromosome
- 9
- Canonical length
- 415 aa
- Protein class
- Predicted intracellular proteins
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 (ACTL7B), and related gene, ACTL7A, 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 ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
415 residues, UniProt reviewed canonical sequence.
>Q9Y614|ACTL7B
1 MATRNSPMPL GTAQGDPGEA GTRPGPDASL RDTGAATQLK MKPRKVHKIK AVIIDLGSQY
61 CKCGYAGEPR PTYFISSTVG KRCPEAADAG DTRKWTLVGH ELLNTEAPLK LVNPLKHGIV
121 VDWDCVQDIW EYIFRTAMKI LPEEHAVLVS DPPLSPSSNR EKYAELMFET FGIPAMHVTS
181 QSLLSIYSYG KTSGLVVESG HGVSHVVPIS EGDVLPGLTS RADYAGGDLT NYLMQLLNEA
241 GHAFTDDHLH IIEHIKKKCC YAAFLPEEEL GLVPEELRVD YELPDGKLIT IGQERFRCSE
301 MLFQPSLAGS TQPGLPELTA ACLGRCQDTG FKEEMAANVL LCGGCTMLDG FPERFQRELS
361 LLCPGDSPAV AAAPERKTSV WTGGSILASL QAFQQLWVSK EEFEERGSVA IYSKCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACTL7B 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)
- 0.3
- Highest tissue expression
- 203 nTPM
Expression across tissuesHPA
Tissue
- testis: 203 nTPM
- adrenal gland: 0.1 nTPM
- breast: 0.1 nTPM
- prostate: 0.1 nTPM
- adipose tissue: 0 nTPM
- amygdala: 0 nTPM
Single-cell type
- early spermatids: 1,897 nCPM
- late primary spermatocytes: 669 nCPM
- late spermatids: 520 nCPM
- oocytes: 28 nCPM
- sertoli cells: 8.2 nCPM
- leydig cells: 3.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 0.2 nTPM
- hypothalamus: 0.2 nTPM
- amygdala: 0.1 nTPM
- basal ganglia: 0.1 nTPM
- cerebellum: 0.1 nTPM
- hippocampal formation: 0.1 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)
- 1.57
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.51
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- selective
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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACTL7B as an antibody target. Whether an autoantibody or antibody against ACTL7B could matter depends on whether native ACTL7B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACTL7B 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 ACTL7B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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