DMRT3_HORSE
ID DMRT3_HORSE Reviewed; 474 AA.
AC F6W2R2; J3SGP7;
DT 26-JUN-2013, integrated into UniProtKB/Swiss-Prot.
DT 26-JUN-2013, sequence version 2.
DT 03-AUG-2022, entry version 53.
DE RecName: Full=Doublesex and mab-3 related transcription factor 3;
GN Name=DMRT3;
OS Equus caballus (Horse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus.
OX NCBI_TaxID=9796;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, TISSUE SPECIFICITY, AND
RP POLYMORPHISM.
RC STRAIN=Thoroughbred;
RX PubMed=22932389; DOI=10.1038/nature11399;
RA Andersson L.S., Larhammar M., Memic F., Wootz H., Schwochow D.,
RA Rubin C.-J., Patra K., Arnason T., Wellbring L., Hjalm G., Imsland F.,
RA Petersen J.L., McCue M.E., Mickelson J.R., Cothran G., Ahituv N.,
RA Roepstorff L., Mikko S., Vallstedt A., Lindgren G., Andersson L.,
RA Kullander K.;
RT "Mutations in DMRT3 affect locomotion in horses and spinal circuit function
RT in mice.";
RL Nature 488:642-646(2012).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Thoroughbred;
RX PubMed=19892987; DOI=10.1126/science.1178158;
RA Wade C.M., Giulotto E., Sigurdsson S., Zoli M., Gnerre S., Imsland F.,
RA Lear T.L., Adelson D.L., Bailey E., Bellone R.R., Bloecker H., Distl O.,
RA Edgar R.C., Garber M., Leeb T., Mauceli E., MacLeod J.N., Penedo M.C.T.,
RA Raison J.M., Sharpe T., Vogel J., Andersson L., Antczak D.F., Biagi T.,
RA Binns M.M., Chowdhary B.P., Coleman S.J., Della Valle G., Fryc S.,
RA Guerin G., Hasegawa T., Hill E.W., Jurka J., Kiialainen A., Lindgren G.,
RA Liu J., Magnani E., Mickelson J.R., Murray J., Nergadze S.G., Onofrio R.,
RA Pedroni S., Piras M.F., Raudsepp T., Rocchi M., Roeed K.H., Ryder O.A.,
RA Searle S., Skow L., Swinburne J.E., Syvaenen A.C., Tozaki T., Valberg S.J.,
RA Vaudin M., White J.R., Zody M.C., Lander E.S., Lindblad-Toh K.;
RT "Genome sequence, comparative analysis, and population genetics of the
RT domestic horse.";
RL Science 326:865-867(2009).
CC -!- FUNCTION: Probable transcription factor that plays a role in
CC configuring the spinal circuits controlling stride in vertebrates.
CC Involved in neuronal specification within a specific subdivision of
CC spinal cord neurons and in the development of a coordinated locomotor
CC network controlling limb movements. May regulate transcription during
CC sexual development. {ECO:0000269|PubMed:22932389}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
CC -!- TISSUE SPECIFICITY: Expressed in the spinal cord, in a small population
CC of neurons located in the ventral horn and around the central canal.
CC {ECO:0000269|PubMed:22932389}.
CC -!- DOMAIN: DMA domain interacts with ubiquitin.
CC {ECO:0000250|UniProtKB:Q9NQL9}.
CC -!- POLYMORPHISM: This sequence corresponds to the wild-type form. A
CC truncated allele, allele A (AC J7FCF0), is linked to the ability to
CC perform alternate gaits, which can be either pace or four-beat ambling
CC gaits. The allele A sequence (AC J7FCF0) has a favorable effect on
CC harness racing performance and on the diversification of the domestic
CC horse, as the altered gait characteristics of a number of breeds
CC apparently require this mutation. Homozygosity for the mutation is
CC required, but not sufficient for pacing, as many Standardbred trotters
CC and some Icelandic horses that are homozygous for this mutation do not
CC pace. The allele A is not found in the following horse populations:
CC Arabian horse, Gotland pony, North-Swedish draft horse, Przewalski's
CC horse, Shetland pony, Swedish ardennes, Swedish warmblood and
CC Thoroughbred.
CC -!- MISCELLANEOUS: DMRT3 is a marker for a subset of spinal cord neurons
CC (dI6).
CC -!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=A gait on the wildside
CC - Issue 154 of November 2013;
CC URL="https://web.expasy.org/spotlight/back_issues/154/";
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DR EMBL; JQ922365; AFK83802.1; -; Genomic_DNA.
DR EMBL; JQ922367; AFK83804.1; -; Genomic_DNA.
DR EMBL; JQ922371; AFK83806.1; -; mRNA.
DR RefSeq; NP_001304194.1; NM_001317265.1.
DR AlphaFoldDB; F6W2R2; -.
DR SMR; F6W2R2; -.
DR PaxDb; F6W2R2; -.
DR PRIDE; F6W2R2; -.
DR Ensembl; ENSECAT00000025062; ENSECAP00000020841; ENSECAG00000023412.
DR GeneID; 100147177; -.
DR KEGG; ecb:100147177; -.
DR CTD; 58524; -.
DR GeneTree; ENSGT00940000160420; -.
DR HOGENOM; CLU_052449_0_0_1; -.
DR InParanoid; F6W2R2; -.
DR OrthoDB; 897429at2759; -.
DR Proteomes; UP000002281; Chromosome 23.
DR Bgee; ENSECAG00000023412; Expressed in testis and 2 other tissues.
DR GO; GO:0005634; C:nucleus; IMP:AgBase.
DR GO; GO:0003677; F:DNA binding; IMP:AgBase.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0008344; P:adult locomotory behavior; IMP:AgBase.
DR GO; GO:0046661; P:male sex differentiation; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0007548; P:sex differentiation; IBA:GO_Central.
DR GO; GO:0019226; P:transmission of nerve impulse; ISS:AgBase.
DR GO; GO:0021521; P:ventral spinal cord interneuron specification; ISS:AgBase.
DR Gene3D; 4.10.1040.10; -; 1.
DR InterPro; IPR001275; DM_DNA-bd.
DR InterPro; IPR036407; DM_DNA-bd_sf.
DR InterPro; IPR005173; DMA.
DR InterPro; IPR026607; DMRT.
DR InterPro; IPR009060; UBA-like_sf.
DR PANTHER; PTHR12322; PTHR12322; 1.
DR Pfam; PF00751; DM; 1.
DR Pfam; PF03474; DMA; 1.
DR SMART; SM00301; DM; 1.
DR SUPFAM; SSF46934; SSF46934; 1.
DR SUPFAM; SSF82927; SSF82927; 1.
DR PROSITE; PS40000; DM_1; 1.
DR PROSITE; PS50809; DM_2; 1.
PE 2: Evidence at transcript level;
KW Developmental protein; Differentiation; DNA-binding; Metal-binding;
KW Nucleus; Reference proteome; Sexual differentiation; Transcription;
KW Transcription regulation; Zinc.
FT CHAIN 1..474
FT /note="Doublesex and mab-3 related transcription factor 3"
FT /id="PRO_0000422701"
FT DOMAIN 251..286
FT /note="DMA"
FT /evidence="ECO:0000255"
FT DNA_BIND 29..76
FT /note="DM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00070"
FT REGION 89..130
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 157..228
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 415..474
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 92..126
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 157..183
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 474 AA; 51418 MW; C721D1DDACC433C0 CRC64;
MNGYGSPYLY MGGPVSQPPR APLQRTPKCA RCRNHGVLSW LKGHKRYCRF KDCTCEKCIL
IIERQRVMAA QVALRRQQAN ESLESLIPDS LRALPGPPPP GDAAAAAPQP PPTSQPSQPP
PPQRPAAELA AAAALRWATE PQPGALQAQL AKPDLTEERL GDGSSADNTE TFSDKDTDQR
SSPDVVKSKG CFTPESPEVV SVDEGGYAVQ KNGGTSESRP DSPKYHGEQN HLLIEGPSGT
VSLPFSLKAN RPPLEVLKKI FPNQKPTVLE LILKGCGGDL VSAVEVLLSS RSSASAADRT
SAEPESLVLP SNGHIFEHTL SSYPISSSKW SVGSAFRVPD TLRFSADSSN VVPNPLAVPL
QHPFPQPPRY PLMLRNTLAR NQSSPFLPND VTLWNTMTLQ QQYQLRSQYV SPFPGSSPSV
FRSSPVLPTR APEDPRISIP DDGCPIVSKQ SLYTEDDYDE RSDSSDSRIL NTSS
