Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6907
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Transducin beta like 1 X-linked |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
TBL1X |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CHNG8, EBI, SMAP55, TBL1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
CHNG8 |
Chromosome
Chromosome number
|
X |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
Xp22.31-p22.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate prot |
UniProt ID |
O60907
|
Protein name |
F-box-like/WD repeat-containing protein TBL1X (SMAP55) (Transducin beta-like protein 1X) (Transducin-beta-like protein 1, X-linked) |
Protein function |
F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probab |
PDB |
2XTC
,
2XTD
,
2XTE
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF08513
|
LisH |
57 → 83 |
LisH |
Domain |
PF00400
|
WD40 |
223 → 260 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
273 → 316 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
319 → 357 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
402 → 440 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
444 → 491 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
495 → 533 |
WD domain, G-beta repeat |
Repeat |
|
Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10330347}. |
Sequence |
|
Sequence length |
577 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autism spectrum disorder |
Autism Spectrum Disorders |
rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 View all (51 more) |
22050706 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Hypothyroidism |
hypothyroidism, congenital, nongoitrous, 8 |
|
|
GenCC |
Diabetes |
Diabetes |
|
|
GWAS |
Coronary artery disease |
Coronary artery disease |
|
|
GWAS |
|
|