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Protein

TBC1 domain family member 14

Gene

TBC1D14

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

Functioni

Negative regulator of starvation-induced autophagosome formation.1 Publication

GO - Molecular functioni

  • GTPase activator activity Source: GO_Central
  • protein kinase binding Source: BHF-UCL
  • Rab GTPase binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 14
Gene namesi
Name:TBC1D14
Synonyms:KIAA1322
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000132405.18
HGNCiHGNC:29246 TBC1D14
MIMi614855 gene
neXtProtiNX_Q9P2M4

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

Golgi apparatus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi472R → A: Loss of inhibition of autophagosome formation; when associated with A-508. 1 Publication1
Mutagenesisi508Q → A: Loss of inhibition of autophagosome formation; when associated with A-472. 1 Publication1

Organism-specific databases

DisGeNETi57533
OpenTargetsiENSG00000132405
PharmGKBiPA128394697

Polymorphism and mutation databases

BioMutaiTBC1D14
DMDMi172044690

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080401 – 693TBC1 domain family member 14Add BLAST693

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei91PhosphoserineCombined sources1
Modified residuei295PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9P2M4
MaxQBiQ9P2M4
PaxDbiQ9P2M4
PeptideAtlasiQ9P2M4
PRIDEiQ9P2M4
ProteomicsDBi83847
83848 [Q9P2M4-2]

PTM databases

iPTMnetiQ9P2M4
PhosphoSitePlusiQ9P2M4

Expressioni

Gene expression databases

BgeeiENSG00000132405 Expressed in 200 organ(s), highest expression level in secondary oocyte
CleanExiHS_TBC1D14
ExpressionAtlasiQ9P2M4 baseline and differential
GenevisibleiQ9P2M4 HS

Organism-specific databases

HPAiHPA036930
HPA067398

Interactioni

Subunit structurei

Interacts with ULK1. May interact with RAB11A and RAB11B, but does not exhibit any GTPase-activating activity toward these proteins.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121592, 26 interactors
IntActiQ9P2M4, 16 interactors
MINTiQ9P2M4
STRINGi9606.ENSP00000386921

Structurei

Secondary structure

1693
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9P2M4
SMRiQ9P2M4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P2M4

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini401 – 611Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST211

Phylogenomic databases

eggNOGiKOG2223 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00750000117238
HOGENOMiHOG000016604
HOVERGENiHBG061665
InParanoidiQ9P2M4
KOiK20167
OMAiEYEDKAG
OrthoDBiEOG091G09QI
PhylomeDBiQ9P2M4
TreeFamiTF313318

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2M4-1) [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
MTDGKLSTST NGVAFMGILD GRPGNPLQNL QHVNLKAPRL LSAPEYGPKL
60 70 80 90 100
KLRALEDRHS LQSVDSGIPT LEIGNPEPVP CSAVHVRRKQ SDSDLIPERA
110 120 130 140 150
FQSACALPSC APPAPSSTER EQSVRKSSTF PRTGYDSVKL YSPTSKALTR
160 170 180 190 200
SDDVSVCSVS SLGTELSTTL SVSNEDILDL VVTSSSSAIV TLENDDDPQF
210 220 230 240 250
TNVTLSSIKE TRGLHQQDCV HEAEEGSKLK ILGPFSNFFA RNLLARKQSA
260 270 280 290 300
RLDKHNDLGW KLFGKAPLRE NAQKDSKRIQ KEYEDKAGRP SKPPSPKQNV
310 320 330 340 350
RKNLDFEPLS TTALILEDRP ANLPAKPAEE AQKHRQQYEE MVVQAKKREL
360 370 380 390 400
KEAQRRKKQL EERCRVEESI GNAVLTWNNE ILPNWETMWC SRKVRDLWWQ
410 420 430 440 450
GIPPSVRGKV WSLAIGNELN ITHELFDICL ARAKERWRSL STGGSEVENE
460 470 480 490 500
DAGFSAADRE ASLELIKLDI SRTFPNLCIF QQGGPYHDML HSILGAYTCY
510 520 530 540 550
RPDVGYVQGM SFIAAVLILN LDTADAFIAF SNLLNKPCQM AFFRVDHGLM
560 570 580 590 600
LTYFAAFEVF FEENLPKLFA HFKKNNLTPD IYLIDWIFTL YSKSLPLDLA
610 620 630 640 650
CRIWDVFCRD GEEFLFRTAL GILKLFEDIL TKMDFIHMAQ FLTRLPEDLP
660 670 680 690
AEELFASIAT IQMQSRNKKW AQVLTALQKD SREMEKGSPS LRH
Length:693
Mass (Da):78,137
Last modified:February 26, 2008 - v3
Checksum:i6E1332D236DE45BD
GO
Isoform 2 (identifier: Q9P2M4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-280: Missing.
     281-281: K → M

Note: No experimental confirmation available.
Show »
Length:413
Mass (Da):47,691
Checksum:iE3BF0E3B0730079C
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B9A071B9A071_HUMAN
TBC1 domain family member 14
TBC1D14
465Annotation score:
F5GXK4F5GXK4_HUMAN
TBC1 domain family member 14
TBC1D14
353Annotation score:
H7BZD7H7BZD7_HUMAN
TBC1 domain family member 14
TBC1D14
200Annotation score:
C9JP26C9JP26_HUMAN
TBC1 domain family member 14
TBC1D14
127Annotation score:
C9J541C9J541_HUMAN
TBC1 domain family member 14
TBC1D14
56Annotation score:

Sequence cautioni

The sequence AAH41167 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA92560 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06744241L → V2 PublicationsCorresponds to variant dbSNP:rs34860182Ensembl.1
Natural variantiVAR_059856446E → Q. Corresponds to variant dbSNP:rs11731231Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0414601 – 280Missing in isoform 2. CuratedAdd BLAST280
Alternative sequenceiVSP_041461281K → M in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449900 mRNA Translation: BAH16643.1
AB037743 mRNA Translation: BAA92560.1 Different initiation.
AC092463 Genomic DNA No translation available.
AC097382 Genomic DNA No translation available.
AC106045 Genomic DNA No translation available.
CH471131 Genomic DNA Translation: EAW82375.1
CH471131 Genomic DNA Translation: EAW82376.1
CH471131 Genomic DNA Translation: EAW82377.1
BC041167 mRNA Translation: AAH41167.1 Different initiation.
AL833868 mRNA Translation: CAD38726.1
CCDSiCCDS3394.2 [Q9P2M4-1]
CCDS47006.1 [Q9P2M4-2]
RefSeqiNP_001106832.1, NM_001113361.1 [Q9P2M4-1]
NP_001106834.1, NM_001113363.1 [Q9P2M4-2]
NP_001273734.1, NM_001286805.1
NP_001317567.1, NM_001330638.1
NP_065824.2, NM_020773.2 [Q9P2M4-1]
XP_006713958.1, XM_006713895.2 [Q9P2M4-1]
UniGeneiHs.518611

Genome annotation databases

EnsembliENST00000409757; ENSP00000386921; ENSG00000132405 [Q9P2M4-1]
ENST00000448507; ENSP00000404041; ENSG00000132405 [Q9P2M4-1]
ENST00000451522; ENSP00000388886; ENSG00000132405 [Q9P2M4-2]
GeneIDi57533
KEGGihsa:57533
UCSCiuc003gjs.5 human [Q9P2M4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449900 mRNA Translation: BAH16643.1
AB037743 mRNA Translation: BAA92560.1 Different initiation.
AC092463 Genomic DNA No translation available.
AC097382 Genomic DNA No translation available.
AC106045 Genomic DNA No translation available.
CH471131 Genomic DNA Translation: EAW82375.1
CH471131 Genomic DNA Translation: EAW82376.1
CH471131 Genomic DNA Translation: EAW82377.1
BC041167 mRNA Translation: AAH41167.1 Different initiation.
AL833868 mRNA Translation: CAD38726.1
CCDSiCCDS3394.2 [Q9P2M4-1]
CCDS47006.1 [Q9P2M4-2]
RefSeqiNP_001106832.1, NM_001113361.1 [Q9P2M4-1]
NP_001106834.1, NM_001113363.1 [Q9P2M4-2]
NP_001273734.1, NM_001286805.1
NP_001317567.1, NM_001330638.1
NP_065824.2, NM_020773.2 [Q9P2M4-1]
XP_006713958.1, XM_006713895.2 [Q9P2M4-1]
UniGeneiHs.518611

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2QQ8X-ray2.00A372-687[»]
ProteinModelPortaliQ9P2M4
SMRiQ9P2M4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121592, 26 interactors
IntActiQ9P2M4, 16 interactors
MINTiQ9P2M4
STRINGi9606.ENSP00000386921

PTM databases

iPTMnetiQ9P2M4
PhosphoSitePlusiQ9P2M4

Polymorphism and mutation databases

BioMutaiTBC1D14
DMDMi172044690

Proteomic databases

EPDiQ9P2M4
MaxQBiQ9P2M4
PaxDbiQ9P2M4
PeptideAtlasiQ9P2M4
PRIDEiQ9P2M4
ProteomicsDBi83847
83848 [Q9P2M4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409757; ENSP00000386921; ENSG00000132405 [Q9P2M4-1]
ENST00000448507; ENSP00000404041; ENSG00000132405 [Q9P2M4-1]
ENST00000451522; ENSP00000388886; ENSG00000132405 [Q9P2M4-2]
GeneIDi57533
KEGGihsa:57533
UCSCiuc003gjs.5 human [Q9P2M4-1]

Organism-specific databases

CTDi57533
DisGeNETi57533
EuPathDBiHostDB:ENSG00000132405.18
GeneCardsiTBC1D14
HGNCiHGNC:29246 TBC1D14
HPAiHPA036930
HPA067398
MIMi614855 gene
neXtProtiNX_Q9P2M4
OpenTargetsiENSG00000132405
PharmGKBiPA128394697
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2223 Eukaryota
COG5210 LUCA
GeneTreeiENSGT00750000117238
HOGENOMiHOG000016604
HOVERGENiHBG061665
InParanoidiQ9P2M4
KOiK20167
OMAiEYEDKAG
OrthoDBiEOG091G09QI
PhylomeDBiQ9P2M4
TreeFamiTF313318

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

Miscellaneous databases

ChiTaRSiTBC1D14 human
EvolutionaryTraceiQ9P2M4
GenomeRNAii57533
PROiPR:Q9P2M4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132405 Expressed in 200 organ(s), highest expression level in secondary oocyte
CleanExiHS_TBC1D14
ExpressionAtlasiQ9P2M4 baseline and differential
GenevisibleiQ9P2M4 HS

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBC14_HUMAN
AccessioniPrimary (citable) accession number: Q9P2M4
Secondary accession number(s): B9A6L5
, D3DVT4, E9PAZ6, Q8IW15, Q8NDK3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: February 26, 2008
Last modified: September 12, 2018
This is version 135 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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