TBC1D7

GENE INFORMATION

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Gene name

TBC1D7 (HGNC Symbol)

Synonyms

dJ257A7.3, FLJ32666

Description

TBC1 domain family, member 7 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Chromosome

6

Cytoband

p24.1

Chromosome location (bp)

13266774 - 13328815

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000145979 (version 75.37)

Entrez gene

51256

UniProt

Q9P0N9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9P0N9

Antibodypedia

TBC1D7 antibodies
 

PROTEIN VIEW

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 « 
 
TBC1D7-001
 
TBC1D7-002
 
TBC1D7-003
 
TBC1D7-004
 
TBC1D7-005
 
TBC1D7-006
 
TBC1D7-008
 
TBC1D7-009
 
TBC1D7-010
 
TBC1D7-011
 
TBC1D7-012
 
TBC1D7-013
 
TBC1D7-014
 
TBC1D7-015
 
TBC1D7-016
 
TBC1D7-018
 
TBC1D7-020
 
TBC1D7-201
 
TBC1D7-202
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TBC1D7-001 ENSP00000401339
ENST00000416436
Q5SZM2
Show all »
Show » Show » 136 16 No 0
TBC1D7-002 ENSP00000414101
ENST00000428109
Q5SZM1
Show all »
Show » Show » 156 18.4 No 0
TBC1D7-003 ENSP00000412102
ENST00000420456
Q5SZL3
Show all »
Show » 194 22.8 No 0
TBC1D7-004 ENSP00000394425
ENST00000422136
Q5SZL4
Show all »
Show » Show » 249 29.2 No 0
TBC1D7-005 ENSP00000414292
ENST00000452989
Q5SZL6
Show all »
Show » Show » 238 27.7 No 1
TBC1D7-006 ENSP00000417005
ENST00000446018
Q5SZL5
Show all »
Show » Show » 207 24.2 No 0
TBC1D7-008 ENSP00000348813
ENST00000356436
Q9P0N9
Show all »
Show » Show » 293 34 No 1
TBC1D7-009 ENSP00000368602
ENST00000379300
Q9P0N9
Show all »
Show » Show » 293 34 No 1
TBC1D7-010 ENSP00000404680
ENST00000450347
Q5SZL6
Show all »
Show » Show » 238 27.7 No 1
TBC1D7-011 ENSP00000368593
ENST00000379291
Q5SZL8
Show all »
Show » Show » 130 15.3 No 0
TBC1D7-012 ENSP00000475727
ENST00000606214
Q9P0N9
Show all »
Show » Show » 293 34 No 0
TBC1D7-013 ENSP00000475355
ENST00000606370
U3KPY5
Show all »
Show » 164 19.4 No 1
TBC1D7-014 ENSP00000401438
ENST00000421203
B4DK47
Show all »
Show » Show » 179 21 No 0
TBC1D7-015 ENSP00000476109
ENST00000607230
U3KQQ0
Show all »
Show » 87 10.2 No 0
TBC1D7-016 ENSP00000475469
ENST00000606530
U3KQ23
Show all »
Show » 20 2.5 No 0
TBC1D7-018 ENSP00000475795
ENST00000606541
U3KQD8
Show all »
Show » Show » 152 17.8 No 0
TBC1D7-020 ENSP00000475191
ENST00000607658
U3KPS8
Show all »
Show » 199 23.3 No 0
TBC1D7-201 ENSP00000343100
ENST00000343141
Q9P0N9
Show all »
Show » Show » 247 28.5 No 0
TBC1D7-202 ENSP00000368609
ENST00000379307
Q9P0N9
Show all »
Show » Show » 266 30.7 No 0