Q5R5J7

PR
Gene name
TBCC
Protein name
Tubulin-specific chaperone C
Names
Tubulin-folding cofactor C, CFC
Species
Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii)
KEGG Pathway
pon:100173755
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-226 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q5R5J7

Entry ID Method Resolution Chain Position Source
AF-Q5R5J7-F1 Predicted AlphaFoldDB

No variants for Q5R5J7

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q5R5J7

1 associated diseases with Q5R5J7

[MIM: 607250]: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1)

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. {ECO:0000269|PubMed:12244316, ECO:0000269|PubMed:15647511, ECO:0000269|PubMed:15920477, ECO:0000269|PubMed:16141202, ECO:0000269|PubMed:17948061}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. {ECO:0000269|PubMed:12244316, ECO:0000269|PubMed:15647511, ECO:0000269|PubMed:15920477, ECO:0000269|PubMed:16141202, ECO:0000269|PubMed:17948061}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q5R5J7

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q5R5J7

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Detected predominantly in the photoreceptor connecting cilium
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
photoreceptor connecting cilium The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone.

2 GO annotations of molecular function

Name Definition
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
tubulin binding Binding to monomeric or multimeric forms of tubulin, including microtubules.

1 GO annotations of biological process

Name Definition
post-chaperonin tubulin folding pathway Completion of folding of alpha- and beta-tubulin; takes place subsequent to chaperonin-mediated partial folding; mediated by a complex of folding cofactors.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MESVSCSAAP VRSGDMESQR DMSLVPERLQ RREQERQLEV ERRKQKRQNQ EVEKENSHFF
70 80 90 100 110 120
AATFARERAA VEELLERAES VERLEEAASR LQGLQKLIND SVFFLAAYDL RQGQEALARL
130 140 150 160 170 180
QAALAERRRE LQPKKRFAFK TRGKDAASCT KVDAAPGIPP AVESIQDSPL PKKAEGDLGS
190 200 210 220 230 240
SWLCGFSNLE SQVLEKRASE LHQRDVLLTE LSNCTVRLYG NPNTLRLTKA HSCKLLCGPV
250 260 270 280 290 300
STSVFLEDCS DCVLAVACQQ LRIHSTKDTR IFLQVTSRAI VEDCSGIQFA PYTWSYPEID
310 320 330 340
KDFESSGLDR SKNNWNDVDD FNWLARDMAS PNWCILPEEE RNIQWD