ACTT1_HUMAN
ID ACTT1_HUMAN Reviewed; 376 AA.
AC Q8TDG2; Q6X7C1; Q96L10;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Actin-related protein T1 {ECO:0000305};
DE Short=ARP-T1 {ECO:0000303|PubMed:12243744, ECO:0000303|PubMed:28869610};
GN Name=ACTRT1 {ECO:0000312|HGNC:HGNC:24027};
GN Synonyms=ARPT1 {ECO:0000303|PubMed:28869610}; ORFNames=HSD27;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND SUBCELLULAR LOCATION.
RX PubMed=12243744; DOI=10.1006/excr.2002.5603;
RA Heid H.W., Figge U., Winter S., Kuhn C., Zimbelmann R., Franke W.W.;
RT "Novel actin-related proteins Arp-T1 and Arp-T2 as components of the
RT cytoskeletal calyx of the mammalian sperm head.";
RL Exp. Cell Res. 279:177-187(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RA Wu N., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS LYS-124 AND
RP 217-GLU--PHE-376 DEL, AND INVOLVEMENT IN DISEASE.
RX PubMed=28869610; DOI=10.1038/nm.4368;
RA Bal E., Park H.S., Belaid-Choucair Z., Kayserili H., Naville M.,
RA Madrange M., Chiticariu E., Hadj-Rabia S., Cagnard N., Kuonen F.,
RA Bachmann D., Huber M., Le Gall C., Cote F., Hanein S., Rosti R.O.,
RA Aslanger A.D., Waisfisz Q., Bodemer C., Hermine O., Morice-Picard F.,
RA Labeille B., Caux F., Mazereeuw-Hautier J., Philip N., Levy N., Taieb A.,
RA Avril M.F., Headon D.J., Gyapay G., Magnaldo T., Fraitag S., Crollius H.R.,
RA Vabres P., Hohl D., Munnich A., Smahi A.;
RT "Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant
RT activation of Hedgehog signaling in inherited and sporadic basal cell
RT carcinomas.";
RL Nat. Med. 23:1226-1233(2017).
CC -!- FUNCTION: Negatively regulates the Hedgehog (SHH) signaling. Binds to
CC the promoter of the SHH signaling mediator, GLI1, and inhibits its
CC expression. {ECO:0000269|PubMed:28869610}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000305|PubMed:28869610}. Cytoplasm {ECO:0000269|PubMed:28869610}.
CC Nucleus {ECO:0000269|PubMed:28869610}. Note=Both detected in the
CC nucleus and cytoplasm, localizes to the nucleus where it binds
CC chromatin upon stimulation of the Hedgehog pathway.
CC {ECO:0000269|PubMed:28869610}.
CC -!- TISSUE SPECIFICITY: In skin, expressed in the basal, spinous and
CC granular layers of the epidermis. Also expressed in hair follicles,
CC sebaceaous glands, eccrine sweat glands and semen.
CC {ECO:0000269|PubMed:28869610}.
CC -!- DISEASE: Note=Mutations and insertions in the coding sequence or in
CC regulatory non-coding elements of this gene may be associated with
CC Bazex syndrome; a cancer-prone genodermatosis with an X-linked dominant
CC inheritance pattern. {ECO:0000269|PubMed:28869610}.
CC -!- SIMILARITY: Belongs to the actin family. {ECO:0000305}.
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DR EMBL; AF440739; AAM00432.1; -; mRNA.
DR EMBL; AY251532; AAP20055.1; -; mRNA.
DR EMBL; Z74696; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC014597; AAH14597.1; -; mRNA.
DR CCDS; CCDS14611.1; -.
DR RefSeq; NP_612146.1; NM_138289.3.
DR AlphaFoldDB; Q8TDG2; -.
DR SMR; Q8TDG2; -.
DR BioGRID; 126584; 17.
DR IntAct; Q8TDG2; 5.
DR STRING; 9606.ENSP00000360165; -.
DR iPTMnet; Q8TDG2; -.
DR PhosphoSitePlus; Q8TDG2; -.
DR BioMuta; ACTRT1; -.
DR DMDM; 118586151; -.
DR EPD; Q8TDG2; -.
DR jPOST; Q8TDG2; -.
DR MassIVE; Q8TDG2; -.
DR PaxDb; Q8TDG2; -.
DR PeptideAtlas; Q8TDG2; -.
DR PRIDE; Q8TDG2; -.
DR ProteomicsDB; 74282; -.
DR Antibodypedia; 511; 119 antibodies from 22 providers.
DR DNASU; 139741; -.
DR Ensembl; ENST00000371124.5; ENSP00000360165.3; ENSG00000123165.9.
DR GeneID; 139741; -.
DR KEGG; hsa:139741; -.
DR MANE-Select; ENST00000371124.5; ENSP00000360165.3; NM_138289.4; NP_612146.1.
DR UCSC; uc004eum.4; human.
DR CTD; 139741; -.
DR DisGeNET; 139741; -.
DR GeneCards; ACTRT1; -.
DR HGNC; HGNC:24027; ACTRT1.
DR HPA; ENSG00000123165; Tissue enriched (testis).
DR MIM; 300487; gene.
DR neXtProt; NX_Q8TDG2; -.
DR OpenTargets; ENSG00000123165; -.
DR PharmGKB; PA142672646; -.
DR VEuPathDB; HostDB:ENSG00000123165; -.
DR eggNOG; KOG0676; Eukaryota.
DR GeneTree; ENSGT00940000162451; -.
DR HOGENOM; CLU_027965_0_2_1; -.
DR InParanoid; Q8TDG2; -.
DR OMA; CMAGRDI; -.
DR OrthoDB; 708610at2759; -.
DR PhylomeDB; Q8TDG2; -.
DR TreeFam; TF354237; -.
DR PathwayCommons; Q8TDG2; -.
DR SignaLink; Q8TDG2; -.
DR BioGRID-ORCS; 139741; 8 hits in 691 CRISPR screens.
DR GenomeRNAi; 139741; -.
DR Pharos; Q8TDG2; Tdark.
DR PRO; PR:Q8TDG2; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q8TDG2; protein.
DR Bgee; ENSG00000123165; Expressed in right testis and 1 other tissue.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IDA:UniProtKB.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; IDA:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR InterPro; IPR004000; Actin.
DR InterPro; IPR030139; Arp-T1.
DR InterPro; IPR043129; ATPase_NBD.
DR PANTHER; PTHR11937; PTHR11937; 1.
DR PANTHER; PTHR11937:SF153; PTHR11937:SF153; 1.
DR Pfam; PF00022; Actin; 1.
DR PRINTS; PR00190; ACTIN.
DR SMART; SM00268; ACTIN; 1.
DR SUPFAM; SSF53067; SSF53067; 2.
PE 2: Evidence at transcript level;
KW Cytoplasm; Cytoskeleton; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..376
FT /note="Actin-related protein T1"
FT /id="PRO_0000255656"
FT VARIANT 124
FT /note="E -> K (found in a patient with Bazex syndrome;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:28869610"
FT /id="VAR_080907"
FT VARIANT 217..376
FT /note="Missing (found in a patient with Bazex syndrome;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:28869610"
FT /id="VAR_080908"
FT CONFLICT 13
FT /note="I -> M (in Ref. 2; AAP20055)"
FT /evidence="ECO:0000305"
FT CONFLICT 262
FT /note="L -> P (in Ref. 2; AAP20055)"
FT /evidence="ECO:0000305"
FT CONFLICT 271
FT /note="H -> R (in Ref. 1; AAM00432)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 376 AA; 41696 MW; 4E633B7869017508 CRC64;
MFNPHALDVP AVIFDNGSGL CKAGLSGEIG PRHVISSVLG HCKFNVPLAR LNQKYFVGQE
ALYKYEALHL HYPIERGLVT GWDDMEKLWK HLFERELGVK PSQQPVLMTE PSLNPREIRE
KLAEMMFETF SVPGFYLSNH AVAALYASAC VTGLVVDSGD GVTCTVPIFE GYSLPHAVTK
LCMAGRDITE HLTRLLFASG FNFPCILNKA VVNNIKEKLC YIALEPEKEL RKSRGEVLGA
YRLPDGHVIH FGDELYQVPE VLFAPDQLGI HSPGLSKMVS SSIMKCDTDI QNKLYADIVL
SGGTTLLPGL EERLMKEVEQ LASKGTPIKI TASPDRCFSA WIGASIMTSM SSFKQMWVTS
ADFKEYGTSV VQRRCF
