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Protein

TBCC domain-containing protein 1

Gene

TBCCD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration.1 Publication

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
TBCC domain-containing protein 1
Gene namesi
Name:TBCCD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000113838.12
HGNCiHGNC:25546 TBCCD1
neXtProtiNX_Q9NVR7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000113838
PharmGKBiPA143485628

Polymorphism and mutation databases

BioMutaiTBCCD1
DMDMi74734544

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003049441 – 557TBCC domain-containing protein 1Add BLAST557

Proteomic databases

EPDiQ9NVR7
MaxQBiQ9NVR7
PaxDbiQ9NVR7
PeptideAtlasiQ9NVR7
PRIDEiQ9NVR7
ProteomicsDBi82851

PTM databases

iPTMnetiQ9NVR7
PhosphoSitePlusiQ9NVR7

Expressioni

Gene expression databases

BgeeiENSG00000113838 Expressed in 90 organ(s), highest expression level in testis
CleanExiHS_TBCCD1
ExpressionAtlasiQ9NVR7 baseline and differential
GenevisibleiQ9NVR7 HS

Interactioni

Protein-protein interaction databases

BioGridi120470, 19 interactors
IntActiQ9NVR7, 5 interactors
MINTiQ9NVR7

Structurei

3D structure databases

ProteinModelPortaliQ9NVR7
SMRiQ9NVR7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini290 – 435C-CAP/cofactor C-likePROSITE-ProRule annotationAdd BLAST146

Sequence similaritiesi

Belongs to the TBCC family.Curated

Phylogenomic databases

eggNOGiKOG4416 Eukaryota
ENOG410XRXF LUCA
GeneTreeiENSGT00470000042284
HOGENOMiHOG000008162
HOVERGENiHBG108549
InParanoidiQ9NVR7
KOiK16810
OMAiSCHNKNW
OrthoDBiEOG091G0C9O
PhylomeDBiQ9NVR7
TreeFamiTF329418

Family and domain databases

Gene3Di2.160.20.70, 1 hit
InterProiView protein in InterPro
IPR017901 C-CAP_CF_C-like
IPR016098 CAP/MinC_C
IPR036223 CAP_C_sf
IPR006599 CARP_motif
IPR039589 TBCC1
IPR012945 Tubulin-bd_cofactor_C_dom
PANTHERiPTHR16052 PTHR16052, 1 hit
PfamiView protein in Pfam
PF07986 TBCC, 1 hit
SMARTiView protein in SMART
SM00673 CARP, 2 hits
SUPFAMiSSF69340 SSF69340, 1 hit
PROSITEiView protein in PROSITE
PS51329 C_CAP_COFACTOR_C, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NVR7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDQSRVLLWV KAEPFIVGAL QVPPPSKFSL HYLRKISTYV QIRATEGAYP
60 70 80 90 100
RLYWSTWRHI ACGKLQLAKD LAWLYFEIFD SLSMKTPEER LEWSEVLSNC
110 120 130 140 150
MSEEEVEKQR NQLSVDTLQF LLFLYIQQLN KVSLRTSLIG EEWPSPRNKS
160 170 180 190 200
QSPDLTEKSN CHNKNWNDYS HQAFVYDHLS DLLELLLDPK QLTASFHSTH
210 220 230 240 250
SSLVSREAVV ALSFLIEGTI SRARKIYPLH ELALWQPLHA DSGFSKISKT
260 270 280 290 300
FSFYKLETWL RSCLTGNPFG TSACLKSGKK LAWAHQVEGT TKRAKIACNT
310 320 330 340 350
HVAPRMHRLV VMSQVYKQTL AKSSDTLAGA HVKIHRCNES FIYLLSPLRS
360 370 380 390 400
VTIEKCRNSI FVLGPVGTTL HLHSCDNVKV IAVCHRLSIS STTGCIFHVL
410 420 430 440 450
TPTRPLILSG NQTVTFAPFH THYPMLEDHM ARTGLATVPN YWDNPMVVCR
460 470 480 490 500
ENSDTRVFQL LPPCEFYVFI IPFEMEGDTT EIPGGLPSVY QKALGQREQK
510 520 530 540 550
IQIWQKTVKE AHLTKDQRKQ FQVLVENKFY EWLINTGHRQ QLDSLVPPAA

GSKQAAG
Length:557
Mass (Da):63,530
Last modified:October 1, 2000 - v1
Checksum:i8485765F466DCC95
GO
Isoform 2 (identifier: Q9NVR7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MDQSRVLLWVKAEPFI → MTDRLKFGFGFHRFLV
     17-112: Missing.

Note: No experimental confirmation available.
Show »
Length:461
Mass (Da):52,263
Checksum:iBB893F7C94E52485
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J4M0C9J4M0_HUMAN
TBCC domain-containing protein 1
TBCCD1
226Annotation score:
C9JUE9C9JUE9_HUMAN
TBCC domain-containing protein 1
TBCCD1
148Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti116D → G in BAG54031 (PubMed:14702039).Curated1
Sequence conflicti455T → A in BAG54031 (PubMed:14702039).Curated1
Sequence conflicti526E → D in BAG54031 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035123149K → R. Corresponds to variant dbSNP:rs7619912Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0540001 – 16MDQSR…AEPFI → MTDRLKFGFGFHRFLV in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_05400117 – 112Missing in isoform 2. 1 PublicationAdd BLAST96

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001422 mRNA Translation: BAA91682.1
AK124362 mRNA Translation: BAG54031.1
AC068631 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78191.1
CH471052 Genomic DNA Translation: EAW78192.1
CH471052 Genomic DNA Translation: EAW78193.1
BC025748 mRNA Translation: AAH25748.1
CCDSiCCDS3276.1 [Q9NVR7-1]
CCDS75061.1 [Q9NVR7-2]
RefSeqiNP_001127887.1, NM_001134415.1 [Q9NVR7-1]
NP_001273678.1, NM_001286749.1 [Q9NVR7-2]
NP_060608.1, NM_018138.4 [Q9NVR7-1]
UniGeneiHs.518469

Genome annotation databases

EnsembliENST00000338733; ENSP00000341652; ENSG00000113838 [Q9NVR7-1]
ENST00000424280; ENSP00000411253; ENSG00000113838 [Q9NVR7-1]
ENST00000446782; ENSP00000397091; ENSG00000113838 [Q9NVR7-2]
GeneIDi55171
KEGGihsa:55171
UCSCiuc003fqg.5 human [Q9NVR7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001422 mRNA Translation: BAA91682.1
AK124362 mRNA Translation: BAG54031.1
AC068631 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78191.1
CH471052 Genomic DNA Translation: EAW78192.1
CH471052 Genomic DNA Translation: EAW78193.1
BC025748 mRNA Translation: AAH25748.1
CCDSiCCDS3276.1 [Q9NVR7-1]
CCDS75061.1 [Q9NVR7-2]
RefSeqiNP_001127887.1, NM_001134415.1 [Q9NVR7-1]
NP_001273678.1, NM_001286749.1 [Q9NVR7-2]
NP_060608.1, NM_018138.4 [Q9NVR7-1]
UniGeneiHs.518469

3D structure databases

ProteinModelPortaliQ9NVR7
SMRiQ9NVR7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120470, 19 interactors
IntActiQ9NVR7, 5 interactors
MINTiQ9NVR7

PTM databases

iPTMnetiQ9NVR7
PhosphoSitePlusiQ9NVR7

Polymorphism and mutation databases

BioMutaiTBCCD1
DMDMi74734544

Proteomic databases

EPDiQ9NVR7
MaxQBiQ9NVR7
PaxDbiQ9NVR7
PeptideAtlasiQ9NVR7
PRIDEiQ9NVR7
ProteomicsDBi82851

Protocols and materials databases

DNASUi55171
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338733; ENSP00000341652; ENSG00000113838 [Q9NVR7-1]
ENST00000424280; ENSP00000411253; ENSG00000113838 [Q9NVR7-1]
ENST00000446782; ENSP00000397091; ENSG00000113838 [Q9NVR7-2]
GeneIDi55171
KEGGihsa:55171
UCSCiuc003fqg.5 human [Q9NVR7-1]

Organism-specific databases

CTDi55171
EuPathDBiHostDB:ENSG00000113838.12
GeneCardsiTBCCD1
HGNCiHGNC:25546 TBCCD1
neXtProtiNX_Q9NVR7
OpenTargetsiENSG00000113838
PharmGKBiPA143485628
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4416 Eukaryota
ENOG410XRXF LUCA
GeneTreeiENSGT00470000042284
HOGENOMiHOG000008162
HOVERGENiHBG108549
InParanoidiQ9NVR7
KOiK16810
OMAiSCHNKNW
OrthoDBiEOG091G0C9O
PhylomeDBiQ9NVR7
TreeFamiTF329418

Miscellaneous databases

GenomeRNAii55171
PROiPR:Q9NVR7

Gene expression databases

BgeeiENSG00000113838 Expressed in 90 organ(s), highest expression level in testis
CleanExiHS_TBCCD1
ExpressionAtlasiQ9NVR7 baseline and differential
GenevisibleiQ9NVR7 HS

Family and domain databases

Gene3Di2.160.20.70, 1 hit
InterProiView protein in InterPro
IPR017901 C-CAP_CF_C-like
IPR016098 CAP/MinC_C
IPR036223 CAP_C_sf
IPR006599 CARP_motif
IPR039589 TBCC1
IPR012945 Tubulin-bd_cofactor_C_dom
PANTHERiPTHR16052 PTHR16052, 1 hit
PfamiView protein in Pfam
PF07986 TBCC, 1 hit
SMARTiView protein in SMART
SM00673 CARP, 2 hits
SUPFAMiSSF69340 SSF69340, 1 hit
PROSITEiView protein in PROSITE
PS51329 C_CAP_COFACTOR_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBCC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NVR7
Secondary accession number(s): B3KW69, D3DNU6, G5E9J4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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