ACTL7A

ACTL7A
Identifiers
AliasesACTL7A, actin like 7A
External IDsOMIM: 604303; MGI: 1343051; GeneCards: ACTL7A
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

10881

11470

Ensembl

ENSG00000187003

ENSMUSG00000070979

UniProt

Q9Y615

Q9QY84

RefSeq (mRNA)

NM_006687

NM_009611

RefSeq (protein)

NP_006678

NP_033741

Location (UCSC)Chr 9: 108.86 – 108.86 MbChr 4: 56.74 – 56.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Actin-like protein 7A is a protein that in humans is encoded by the ACTL7A gene.[5][6]

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.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187003 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000070979 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA (Jul 1999). "Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31". Genomics. 58 (3): 302–9. doi:10.1006/geno.1999.5848. PMID 10373328.
  6. ^ a b "Entrez Gene: ACTL7A actin-like 7A".

Further reading


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