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Doublesex and mab-3 related transcription factor 3, truncated (Duplex and mab-3 related transcription factor 3 allele A)

 DMR3T_HORSE             Reviewed;         300 AA.
J7FCF0;
26-JUN-2013, integrated into UniProtKB/Swiss-Prot.
31-OCT-2012, sequence version 1.
22-NOV-2017, entry version 22.
RecName: Full=Doublesex and mab-3 related transcription factor 3, truncated;
AltName: Full=Duplex and mab-3 related transcription factor 3 allele A;
Name=DMRT3;
Equus caballus (Horse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus.
NCBI_TaxID=9796;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, TISSUE
SPECIFICITY, AND POLYMORPHISM.
STRAIN=Icelandic;
PubMed=22932389; DOI=10.1038/nature11399;
Andersson L.S., Larhammar M., Memic F., Wootz H., Schwochow D.,
Rubin C.-J., Patra K., Arnason T., Wellbring L., Hjalm G., Imsland F.,
Petersen J.L., McCue M.E., Mickelson J.R., Cothran G., Ahituv N.,
Roepstorff L., Mikko S., Vallstedt A., Lindgren G., Andersson L.,
Kullander K.;
"Mutations in DMRT3 affect locomotion in horses and spinal circuit
function in mice.";
Nature 488:642-646(2012).
-!- FUNCTION: Probable transcription factor that plays a role in
configuring the spinal circuits controlling stride in vertebrates.
Involved in neuronal specification within a specific subdivision
of spinal cord neurons and in the development of a coordinated
locomotor network controlling limb movements. May regulate
transcription during sexual development.
{ECO:0000269|PubMed:22932389}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000270|PROSITE-
ProRule:PRU00070}.
-!- TISSUE SPECIFICITY: Expressed in the spinal cord, in a small
population of neurons located in the ventral horn and around the
central canal. {ECO:0000269|PubMed:22932389}.
-!- POLYMORPHISM: This sequence corresponds to the allele A, which
contains a premature stop at position 301, and is linked to the
ability to perform alternate gaits, which can be either pace or
four-beat ambling gaits (the wild-type protein sequence: AC
F6W2R2). The allele A sequence has a favorable effect on harness
racing performance and on the diversification of the domestic
horse, as the altered gait characteristics of a number of breeds
apparently require this mutation. Homozygosity for the mutation is
required, but not sufficient for pacing, as many Standardbred
trotters and some Icelandic horses that are homozygous for this
mutation do not pace. Allele A has been shown to be present in the
following horse populations: Icelandic horses four-gaited and
five-gaited, Kentucky mountain saddle horse, Missouri fox trotter,
Paso fino, Peruvian paso, Rocky mountain horse, Tennessee walking
horse, Standardbred trotter (Sweden, USA), Standardbred pacer
(USA), and French trotter (France).
-!- MISCELLANEOUS: DMRT3 is a marker for a subset of spinal cord
neurons (dI6).
-!- SIMILARITY: Belongs to the DMRT family. {ECO:0000320}.
-!- WEB RESOURCE: Name=Protein Spotlight; Note=A gait on the wildside
- Issue 154 of November 2013;
URL="https://web.expasy.org/spotlight/back_issues/154/";
-!- WEB RESOURCE: Name=Protein Spotlight; Note=Bio-Art - Issue 53 of
December 2004;
URL="https://web.expasy.org/spotlight/back_issues/053/";
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EMBL; JQ922366; AFK83803.1; -; Genomic_DNA.
EMBL; JQ922370; AFK83805.1; -; mRNA.
SMR; J7FCF0; -.
PaxDb; J7FCF0; -.
eggNOG; KOG3815; Eukaryota.
eggNOG; ENOG410XSK9; LUCA.
GO; GO:0005634; C:nucleus; HDA:AgBase.
GO; GO:0003677; F:DNA binding; HDA:AgBase.
GO; GO:0046872; F:metal ion binding; RCA:UniProtKB-KW.
GO; GO:0043565; F:sequence-specific DNA binding; RCA:InterPro.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; RCA:InterPro.
GO; GO:0008344; P:adult locomotory behavior; HDA:AgBase.
GO; GO:0007548; P:sex differentiation; RCA:UniProtKB-KW.
GO; GO:0006351; P:transcription, DNA-templated; RCA:UniProtKB-KW.
GO; GO:0019226; P:transmission of nerve impulse; HMP:AgBase.
GO; GO:0021521; P:ventral spinal cord interneuron specification; HMP:AgBase.
Gene3D; 4.10.1040.10; -; 1.
InterPro; IPR001275; DM_DNA-bd.
InterPro; IPR036407; DM_DNA-bd_sf.
InterPro; IPR005173; DMA.
InterPro; IPR026607; DMRT/dsx/mab-3.
InterPro; IPR009060; UBA-like_sf.
PANTHER; PTHR12322; PTHR12322; 1.
Pfam; PF00751; DM; 1.
Pfam; PF03474; DMA; 1.
SMART; SM00301; DM; 1.
SUPFAM; SSF46934; SSF46934; 1.
SUPFAM; SSF82927; SSF82927; 1.
PROSITE; PS40000; DM_1; 1.
PROSITE; PS50809; DM_2; 1.
2: Evidence at transcript level;
Developmental protein; Differentiation; DNA-binding; Metal-binding;
Nucleus; Polymorphism; Sexual differentiation; Transcription;
Transcription regulation; Zinc.
CHAIN 1 300 Doublesex and mab-3 related transcription
factor 3, truncated.
/FTId=PRO_0000422702.
DNA_BIND 29 76 DM. {ECO:0000270|PROSITE-
ProRule:PRU00070}.
COMPBIAS 95 125 Pro-rich.
SEQUENCE 300 AA; 32100 MW; ECBADB9384DA2A64 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


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