SRY
entrez
6736
canonical
uniprot
Q05066
canonical
ensembl
ENSG00000184895
resolver
ensp
ENSP00000372547
resolver
enst
ENST00000383070
resolver
genesymbol
SRY
resolver
genesymbol_syn
TDF
resolver
hgnc
HGNC:11311
resolver
uniprot
A7WPU8
resolver
uniprot_entry
A7WPU8_HUMAN
resolver
uniprot_entry
SRY_HUMAN
resolver
amino_acid_sequence
MQSYASAMLSVFNSDDYSPAVQENIPALRRSSSFLCTESCNSKYQCETGENSKGNVQDRVKRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLPKNCSLLPADPASVLCSEVQLDNRLYRDDCTKATHSRMEHQLGHLPPINAASSPQQRDRYSHWTKL
uniprot
proteins
disease_involvement
DISEASE: 46,XY sex reversal 1 (SRXY1) [MIM:400044]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. {ECO:0000269|PubMed:10670762, ECO:0000269|PubMed:10721678, ECO:0000269|PubMed:10843173, ECO:0000269|PubMed:10852465, ECO:0000269|PubMed:11563911, ECO:0000269|PubMed:12107262, ECO:0000269|PubMed:12793612, ECO:0000269|PubMed:1339396, ECO:0000269|PubMed:1415266, ECO:0000269|PubMed:1483689, ECO:0000269|PubMed:1570829, ECO:0000269|PubMed:16762365, ECO:0000269|PubMed:17063144, ECO:0000269|PubMed:2247149, ECO:0000269|PubMed:28030592, ECO:0000269|PubMed:7717397, ECO:0000269|PubMed:7776083, ECO:0000269|PubMed:7985018, ECO:0000269|PubMed:8019555, ECO:0000269|PubMed:8105086, ECO:0000269|PubMed:8353496, ECO:0000269|PubMed:8447323, ECO:0000269|PubMed:9450909, ECO:0000269|PubMed:9521592, ECO:0000269|PubMed:9678356, ECO:0000269|Ref.42, ECO:0000269|Ref.48}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A 45,X chromosomal aberration involving SRY is found in Turner syndrome, a disease characterized by gonadal dysgenesis with short stature, 'streak gonads', variable abnormalities such as webbing of the neck, cubitus valgus, cardiac defects, low posterior hair line. The phenotype is female. {ECO:0000269|PubMed:10843173}.; DISEASE: 46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269|PubMed:10602113, ECO:0000269|PubMed:9652903}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (PubMed:16414182, PubMed:16996051). Involved in different aspects of gene regulation including promoter activation or repression (PubMed:9525897). Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (PubMed:11563911, PubMed:1425584, PubMed:15170344, PubMed:8159753, PubMed:8265659). SRY HMG box recognizes DNA by partial intercalation in the minor groove and promotes DNA bending (PubMed:11563911, PubMed:1425584, PubMed:15170344, PubMed:16762365, PubMed:8159753, PubMed:8265659). Also involved in pre-mRNA splicing (PubMed:11818535). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). {ECO:0000250|UniProtKB:P36394, ECO:0000269|PubMed:11563911, ECO:0000269|PubMed:11818535, ECO:0000269|PubMed:1425584, ECO:0000269|PubMed:15170344, ECO:0000269|PubMed:16762365, ECO:0000269|PubMed:8159753, ECO:0000269|PubMed:8265659, ECO:0000269|PubMed:9525897, ECO:0000303|PubMed:16414182, ECO:0000303|PubMed:16996051}.
uniprot
proteins
mass_dalton
23884
uniprot
proteins
mutagenesis
MUTAGEN 31..33; /note="SSS->AAA: Abolishes its phosphorylation by PKA. Does not enhance its DNA-binding activity. Abolishes stimulation of transcription repression."; /evidence="ECO:0000269|PubMed:9525897"; MUTAGEN 62; /note="R->G: Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1."; /evidence="ECO:0000269|PubMed:12764225, ECO:0000269|PubMed:19349578"; MUTAGEN 75; /note="R->N: Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML."; /evidence="ECO:0000269|PubMed:12764225, ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578"; MUTAGEN 76; /note="R->P: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML. Does not affectnuclear import."; /evidence="ECO:0000269|PubMed:12764225, ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578"; MUTAGEN 115; /note="K->R: Does not abolish acetylation activity."; /evidence="ECO:0000269|PubMed:15297880"; MUTAGEN 123; /note="K->R: Does not abolish acetylation."; /evidence="ECO:0000269|PubMed:15297880"; MUTAGEN 128; /note="K->R: Does not abolish acetylation."; /evidence="ECO:0000269|PubMed:15297880"; MUTAGEN 133; /note="R->W: Reduces nuclear localization. Strongly reduces nuclear localization; when associated with G-62. Reduces interaction with KPNB1. Does not reduce interaction with CAML. Does not abolish DNA-binding."; /evidence="ECO:0000269|PubMed:12764225, ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578"; MUTAGEN 134; /note="K->R: Does not abolish acetylation."; /evidence="ECO:0000269|PubMed:15297880"; MUTAGEN 136; /note="K->R: Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1."; /evidence="ECO:0000269|PubMed:15297880
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression. {ECO:0000269|PubMed:9525897}.; PTM: Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3. {ECO:0000269|PubMed:15297880}.; PTM: Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity. {ECO:0000269|PubMed:16904257}.
uniprot
proteins
protein_family
SRY family
uniprot
proteins
pubmed
10602113
uniprot
proteins
pubmed
10670762
uniprot
proteins
pubmed
10721678
uniprot
proteins
pubmed
10732804
uniprot
proteins
pubmed
10843173
uniprot
proteins
pubmed
10852465
uniprot
proteins
pubmed
11563911
uniprot
proteins
pubmed
11818535
uniprot
proteins
pubmed
12107262
uniprot
proteins
pubmed
12764225
uniprot
proteins
pubmed
12793612
uniprot
proteins
pubmed
12871148
uniprot
proteins
pubmed
12970737
uniprot
proteins
pubmed
1339396
uniprot
proteins
pubmed
1415266
uniprot
proteins
pubmed
1425584
uniprot
proteins
pubmed
1483689
uniprot
proteins
pubmed
15170344
uniprot
proteins
pubmed
15297880
uniprot
proteins
pubmed
15469996
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1570829
uniprot
proteins
pubmed
15746192
uniprot
proteins
pubmed
16414182
uniprot
proteins
pubmed
16762365
uniprot
proteins
pubmed
16813837
uniprot
proteins
pubmed
16904257
uniprot
proteins
pubmed
1695712
uniprot
proteins
pubmed
16996051
uniprot
proteins
pubmed
17063144
uniprot
proteins
pubmed
19349578
uniprot
proteins
pubmed
2247149
uniprot
proteins
pubmed
28030592
uniprot
proteins
pubmed
7557997
uniprot
proteins
pubmed
7717397
uniprot
proteins
pubmed
7774012
uniprot
proteins
pubmed
7776083
uniprot
proteins
pubmed
7985018
uniprot
proteins
pubmed
8019555
uniprot
proteins
pubmed
8105086
uniprot
proteins
pubmed
8159753
uniprot
proteins
pubmed
8244390
uniprot
proteins
pubmed
8257986
uniprot
proteins
pubmed
8265659
uniprot
proteins
pubmed
8353496
uniprot
proteins
pubmed
8434602
uniprot
proteins
pubmed
8447323
uniprot
proteins
pubmed
9054412
uniprot
proteins
pubmed
9143916
uniprot
proteins
pubmed
9450909
uniprot
proteins
pubmed
9521592
uniprot
proteins
pubmed
9525897
uniprot
proteins
pubmed
9652903
uniprot
proteins
pubmed
9678356
uniprot
proteins
sequence_length
204
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:11818535}. Cytoplasm {ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:19349578}. Nucleus {ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:16762365, ECO:0000269|PubMed:19349578, ECO:0000269|PubMed:28030592}. Note=Acetylation contributes to its nuclear localization and deacetylation by HDAC3 induces a cytoplasmic delocalization (PubMed:15297880). Colocalizes with SOX6 in speckles (PubMed:11818535). Colocalizes with CAML in the nucleus (PubMed:15746192). Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity). Nuclear import is facilitated by XPO4, a protein that usually acts as a nuclear export signal receptor (PubMed:19349578). {ECO:0000250|UniProtKB:Q05738, ECO:0000269|PubMed:11818535, ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578}.
uniprot
proteins