DMRTC_HUMAN
ID DMRTC_HUMAN Reviewed; 192 AA.
AC Q5HYR2; Q5HYR0; Q5U5K2; Q8N6L3; Q96SD3;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Doublesex- and mab-3-related transcription factor C1;
GN Name=DMRTC1;
GN and
GN Name=DMRTC1B;
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 [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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-64 (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Pancreas;
RX PubMed=11863363; DOI=10.1006/geno.2002.6711;
RA Ottolenghi C., Fellous M., Barbieri M., McElreavey K.;
RT "Novel paralogy relations among human chromosomes support a link between
RT the phylogeny of doublesex-related genes and the evolution of sex
RT determination.";
RL Genomics 79:333-343(2002).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5HYR2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5HYR2-2; Sequence=VSP_019519;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in kidney, pancreas, ovary
CC and testis. Detected in brain and in many other tissues.
CC {ECO:0000269|PubMed:11863363}.
CC -!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
CC -!- CAUTION: Although related to other DMRT proteins, it does not contain a
CC canonical DM DNA-binding domain. {ECO:0000305}.
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DR EMBL; BX293538; CAI41255.1; -; Genomic_DNA.
DR EMBL; BX293538; CAI41256.1; -; Genomic_DNA.
DR EMBL; BX293538; CAI41258.1; -; Genomic_DNA.
DR EMBL; BC047596; AAH47596.1; -; mRNA.
DR EMBL; AJ291670; CAC40653.1; ALT_TERM; mRNA.
DR CCDS; CCDS35333.2; -. [Q5HYR2-1]
DR CCDS; CCDS43971.1; -. [Q5HYR2-1]
DR RefSeq; NP_001074320.1; NM_001080851.1. [Q5HYR2-1]
DR RefSeq; NP_149042.2; NM_033053.2. [Q5HYR2-1]
DR RefSeq; XP_005262344.1; XM_005262287.3. [Q5HYR2-1]
DR RefSeq; XP_005262345.1; XM_005262288.3. [Q5HYR2-1]
DR RefSeq; XP_006724747.1; XM_006724684.2. [Q5HYR2-1]
DR RefSeq; XP_006724748.1; XM_006724685.3.
DR RefSeq; XP_016885214.1; XM_017029725.1. [Q5HYR2-1]
DR RefSeq; XP_016885265.1; XM_017029776.1. [Q5HYR2-1]
DR AlphaFoldDB; Q5HYR2; -.
DR BioGRID; 122011; 1.
DR BioGRID; 609078; 1.
DR IntAct; Q5HYR2; 2.
DR MINT; Q5HYR2; -.
DR STRING; 9606.ENSP00000334501; -.
DR BioMuta; DMRTC1; -.
DR MassIVE; Q5HYR2; -.
DR PaxDb; Q5HYR2; -.
DR PRIDE; Q5HYR2; -.
DR Antibodypedia; 43943; 31 antibodies from 12 providers.
DR Antibodypedia; 73014; 44 antibodies from 9 providers.
DR DNASU; 63947; -.
DR Ensembl; ENST00000334036.10; ENSP00000334501.5; ENSG00000184911.15. [Q5HYR2-1]
DR Ensembl; ENST00000373532.7; ENSP00000362632.3; ENSG00000184911.15. [Q5HYR2-1]
DR Ensembl; ENST00000373533.5; ENSP00000362633.1; ENSG00000184911.15. [Q5HYR2-2]
DR Ensembl; ENST00000595412.5; ENSP00000471224.1; ENSG00000269502.6. [Q5HYR2-1]
DR Ensembl; ENST00000596389.5; ENSP00000469615.1; ENSG00000269502.6. [Q5HYR2-2]
DR Ensembl; ENST00000615063.2; ENSP00000484718.2; ENSG00000269502.6. [Q5HYR2-1]
DR GeneID; 63947; -.
DR GeneID; 728656; -.
DR KEGG; hsa:63947; -.
DR KEGG; hsa:728656; -.
DR MANE-Select; ENST00000334036.10; ENSP00000334501.5; NM_001386972.1; NP_001373901.1.
DR MANE-Select; ENST00000615063.2; ENSP00000484718.2; NM_033053.3; NP_149042.2.
DR UCSC; uc004ebb.3; human. [Q5HYR2-1]
DR CTD; 63947; -.
DR CTD; 728656; -.
DR GeneCards; DMRTC1; -.
DR GeneCards; DMRTC1B; -.
DR HGNC; HGNC:13910; DMRTC1.
DR HGNC; HGNC:31686; DMRTC1B.
DR HPA; ENSG00000184911; Tissue enhanced (brain, pituitary gland).
DR HPA; ENSG00000269502; Tissue enhanced (brain, pituitary gland).
DR MIM; 300878; gene.
DR neXtProt; NX_Q5HYR2; -.
DR PharmGKB; PA162383779; -.
DR VEuPathDB; HostDB:ENSG00000184911; -.
DR VEuPathDB; HostDB:ENSG00000269502; -.
DR eggNOG; KOG3815; Eukaryota.
DR GeneTree; ENSGT00940000165171; -.
DR HOGENOM; CLU_050863_2_0_1; -.
DR InParanoid; Q5HYR2; -.
DR OMA; HPCATFE; -.
DR PhylomeDB; Q5HYR2; -.
DR TreeFam; TF340713; -.
DR PathwayCommons; Q5HYR2; -.
DR SignaLink; Q5HYR2; -.
DR BioGRID-ORCS; 63947; 53 hits in 588 CRISPR screens.
DR BioGRID-ORCS; 728656; 15 hits in 612 CRISPR screens.
DR ChiTaRS; DMRTC1; human.
DR Pharos; Q5HYR2; Tdark.
DR PRO; PR:Q5HYR2; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5HYR2; protein.
DR Bgee; ENSG00000184911; Expressed in nucleus accumbens and 92 other tissues.
DR ExpressionAtlas; Q5HYR2; baseline.
DR Genevisible; Q5HYR2; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:InterPro.
DR InterPro; IPR026607; DMRT.
DR InterPro; IPR031577; DMRT-C1/C2_C.
DR PANTHER; PTHR12322; PTHR12322; 1.
DR Pfam; PF15791; DMRT-like; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..192
FT /note="Doublesex- and mab-3-related transcription factor
FT C1"
FT /id="PRO_0000244102"
FT REGION 142..176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 158..172
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 42..106
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019519"
SQ SEQUENCE 192 AA; 20139 MW; 5B56F266F5725D53 CRC64;
MAAPPKAPIR VRNLTIRAGA LTGKENNMLQ PETHIFTAPE EGSSQGALLL GQAPEPLSLP
CTPVTLEQQL VSPSGDPHRA PALPSICSTL ILQPCATLDP LLLQPQVPKV SDQALVSAHS
EWQRKLEAAE ALLTLRNSAQ APPDSISLHQ PCNPPAPAGD KGFQPPSPSL RPRPASSISL
PIGHLGCISL LS
