ACTRT1 (actin related protein T1)

2014-11-01  

Identity

HGNC
LOCATION
Xq25
LOCUSID
ALIAS
AIP1,ARIP1,ARPT1,HSD27

Other Information

Locus ID:

NCBI: 139741
MIM: 300487
HGNC: 24027
Ensembl: ENSG00000123165

Variants:

dbSNP: 139741
ClinVar: 139741
TCGA: ENSG00000123165
COSMIC: ACTRT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123165ENST00000371124Q8TDG2

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
384143652024Deletion of ACTRT1 is associated with male infertility as sperm acrosomal ultrastructural defects and fertilization failure in human.0
384143652024Deletion of ACTRT1 is associated with male infertility as sperm acrosomal ultrastructural defects and fertilization failure in human.0
339726892021ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.4
339726892021ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.4
288696102017Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.30
288696102017Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.30
122437442002Novel actin-related proteins Arp-T1 and Arp-T2 as components of the cytoskeletal calyx of the mammalian sperm head.22
122437442002Novel actin-related proteins Arp-T1 and Arp-T2 as components of the cytoskeletal calyx of the mammalian sperm head.22

Citation

Dessen P

ACTRT1 (actin related protein T1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60125/actrt1-(actin-related-protein-t1)