ID C4P0D6_HUMAN Unreviewed; 186 AA.
AC C4P0D6;
DT 07-JUL-2009, integrated into UniProtKB/TrEMBL.
DT 07-JUL-2009, sequence version 1.
DT 27-MAR-2024, entry version 88.
DE RecName: Full=Translin-associated protein X {ECO:0000256|ARBA:ARBA00041076};
DE AltName: Full=Translin-associated factor X {ECO:0000256|ARBA:ARBA00042076};
GN Name=TSNAX-DISC1 {ECO:0000313|Ensembl:ENSP00000473367.1};
GN Synonyms=DISC1 {ECO:0000313|EMBL:ACR40085.1};
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 {ECO:0000313|EMBL:ACR40085.1};
RN [1] {ECO:0000313|Ensembl:ENSP00000473367.1, ECO:0000313|Proteomes:UP000005640}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H.,
RA Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C.,
RA Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R.,
RA Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A.,
RA Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.,
RA Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.,
RA Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R.,
RA Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D.,
RA Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A.,
RA Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S., McLaren S., Milne S.,
RA Mistry S., Moore M.J., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A.,
RA Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S.,
RA Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G.,
RA Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A.,
RA Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L.,
RA Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z.,
RA Coulson A., Vaudin M., Sulston J.E., Durbin R., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R., Banerjee R., Bryant S.P., Burford D.C.,
RA Burrill W.D., Clegg S.M., Dhami P., Dovey O., Faulkner L.M., Gribble S.M.,
RA Langford C.F., Pandian R.D., Porter K.M., Prigmore E.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2] {ECO:0000313|EMBL:ACR40085.1}
RP NUCLEOTIDE SEQUENCE.
RA Nakata K., Lipska B.L., Hyde T.M., Ye T., Newburn E.N., Morita Y.,
RA Vakkalanka R., Barenboim M., Sei Y., Weinberger D.R., Kleinman J.E.;
RT "DISC1 splice variants are upregulated in schizophrenia and associated with
RT risk polymorphisms.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:15873-15878(2009).
RN [3] {ECO:0000313|EMBL:ACR40085.1}
RP NUCLEOTIDE SEQUENCE.
RA Nakata K., Lipska B.K., Hyde T.M., Ye T., Fink E.N., Morita Y.,
RA Vakkalanka R., Barenboim M., Sei Y., Weinberger D.R., Kleinman J.E.;
RT "Novel Fetal DISC1 Splice Variants Are Upregulated in Schizophrenia and
RT Associated with Risk Polymorphisms.";
RL Submitted (MAR-2009) to the EMBL/GenBank/DDBJ databases.
RN [4] {ECO:0000313|Ensembl:ENSP00000473367.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- FUNCTION: Acts in combination with TSN as an endonuclease involved in
CC the activation of the RNA-induced silencing complex (RISC). Possible
CC role in spermatogenesis. {ECO:0000256|ARBA:ARBA00037653}.
CC -!- SUBUNIT: Ring-shaped heterooctamer of six TSN and two TSNAX subunits.
CC Interacts with GOLGA3, TSNAXIP1, SUN1 and AKAP9. Interacts with the
CC homodimeric form of C1D following gamma-radiation. Interacts with TSN
CC and C1D in a mutually exclusive manner.
CC {ECO:0000256|ARBA:ARBA00038594}.
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DR EMBL; AL136171; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359543; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445524; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL450284; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL626763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; FJ804219; ACR40085.1; -; mRNA.
DR EMBL; FJ804220; ACR40086.1; -; mRNA.
DR EMBL; FJ804224; ACR40090.1; -; mRNA.
DR BioMuta; TSNAX-DISC1; -.
DR Ensembl; ENST00000602567.1; ENSP00000473456.1; ENSG00000270106.6.
DR Ensembl; ENST00000602962.5; ENSP00000473367.1; ENSG00000270106.6.
DR UCSC; uc010pwj.2; human.
DR AGR; HGNC:49177; -.
DR GeneCards; TSNAX-DISC1; -.
DR HGNC; HGNC:49177; TSNAX-DISC1.
DR VEuPathDB; HostDB:ENSG00000270106; -.
DR HOGENOM; CLU_125030_0_0_1; -.
DR ChiTaRS; TSNAX-DISC1; human.
DR Proteomes; UP000005640; Chromosome 1.
DR Bgee; ENSG00000270106; Expressed in corpus callosum and 68 other cell types or tissues.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR InterPro; IPR002848; Translin_fam.
DR InterPro; IPR016068; Translin_N.
DR InterPro; IPR036081; Translin_sf.
DR PANTHER; PTHR10741; TRANSLIN AND TRANSLIN ASSOCIATED PROTEIN X; 1.
DR PANTHER; PTHR10741:SF5; TRANSLIN-ASSOCIATED PROTEIN X; 1.
DR Pfam; PF01997; Translin; 1.
DR SUPFAM; SSF74784; Translin; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm {ECO:0000256|ARBA:ARBA00022490};
KW Magnesium {ECO:0000256|PIRSR:PIRSR602848-1};
KW Metal-binding {ECO:0000256|PIRSR:PIRSR602848-1};
KW Reference proteome {ECO:0000313|Proteomes:UP000005640}.
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 7..27
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 129
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000256|PIRSR:PIRSR602848-1"
SQ SEQUENCE 186 AA; 21427 MW; 650DE0A69560B125 CRC64;
MSNKEGSGGF RKRKHDNFPH NQRREGKDVN SSSPVMLAFK SFQQELDARH DKYERLVKLS
RDITVESKRT IFLLHRITSA PDMEDILTES EIKLDGVRQK IFQVAQELSG EDMHQFHRAI
TTGLQEYVEA VSFQHFIKTR SLISMDEINK QLIFTTEDNG KENKTKFTGK ILLTEALGIK
ADRSSI
//
