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Protein

Tubby protein homolog

Gene

TUB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.By similarity1 Publication

GO - Molecular functioni

  • phosphatidylinositol binding Source: GO_Central
  • protein complex binding Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Phagocytosis, Sensory transduction

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166402-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Tubby protein homolog
Gene namesi
Name:TUB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:12406. TUB.

Subcellular locationi

  • Cytoplasm By similarity
  • Nucleus By similarity
  • Secreted By similarity
  • Cell membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity

  • Note: Binds phospholipid and is anchored to the plasma membrane through binding phosphatidylinositol 4,5-bisphosphate. Is released upon activation of phospholipase C. Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide-binding protein G(q) subunit alpha. Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity).By similarity

GO - Cellular componenti

  • cilium Source: GO_Central
  • cytoplasm Source: ProtInc
  • cytosol Source: Ensembl
  • extracellular region Source: UniProtKB-SubCell
  • nucleus Source: ProtInc
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Nucleus, Secreted

Pathology & Biotechi

Involvement in diseasei

Retinal dystrophy and obesity (RDOB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy.
See also OMIM:616188

Keywords - Diseasei

Obesity

Organism-specific databases

DisGeNETi7275.
MalaCardsiTUB.
MIMi616188. phenotype.
OpenTargetsiENSG00000166402.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA37070.

Polymorphism and mutation databases

BioMutaiTUB.
DMDMi1717821.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001864631 – 506Tubby protein homologAdd BLAST506

Proteomic databases

EPDiP50607.
PaxDbiP50607.
PeptideAtlasiP50607.
PRIDEiP50607.

PTM databases

iPTMnetiP50607.
PhosphoSitePlusiP50607.

Expressioni

Gene expression databases

BgeeiENSG00000166402.
CleanExiHS_TUB.
ExpressionAtlasiP50607. baseline and differential.
GenevisibleiP50607. HS.

Organism-specific databases

HPAiHPA017997.
HPA049019.

Interactioni

Subunit structurei

Interacts with GNAQ. Interacts with TULP1.By similarity

GO - Molecular functioni

  • protein complex binding Source: MGI

Protein-protein interaction databases

BioGridi113126. 5 interactors.
STRINGi9606.ENSP00000305426.

Structurei

Secondary structure

1506
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi251 – 255Combined sources5
Beta strandi265 – 272Combined sources8
Helixi276 – 278Combined sources3
Beta strandi283 – 289Combined sources7
Beta strandi295 – 303Combined sources9
Beta strandi311 – 316Combined sources6
Helixi318 – 322Combined sources5
Beta strandi329 – 334Combined sources6
Beta strandi338 – 348Combined sources11
Turni355 – 357Combined sources3
Beta strandi358 – 363Combined sources6
Beta strandi366 – 372Combined sources7
Beta strandi385 – 390Combined sources6
Helixi406 – 408Combined sources3
Helixi410 – 415Combined sources6
Beta strandi421 – 427Combined sources7
Beta strandi431 – 433Combined sources3
Turni434 – 437Combined sources4
Beta strandi438 – 440Combined sources3
Beta strandi455 – 459Combined sources5
Beta strandi467 – 474Combined sources8
Beta strandi477 – 482Combined sources6
Helixi488 – 500Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S31X-ray2.70A234-506[»]
ProteinModelPortaliP50607.
SMRiP50607.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50607.

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi197 – 204Asp/Glu-rich8
Compositional biasi206 – 210Poly-Ser5

Sequence similaritiesi

Belongs to the TUB family.Curated

Phylogenomic databases

eggNOGiKOG2502. Eukaryota.
ENOG410XQFT. LUCA.
GeneTreeiENSGT00610000085970.
HOGENOMiHOG000016044.
HOVERGENiHBG018010.
InParanoidiP50607.
OMAiATMQRKG.
OrthoDBiEOG091G04TF.
PhylomeDBiP50607.
TreeFamiTF314076.

Family and domain databases

Gene3Di3.20.90.10. 1 hit.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR005398. Tubby_N.
[Graphical view]
PfamiPF01167. Tub. 1 hit.
PF16322. Tub_N. 1 hit.
[Graphical view]
PRINTSiPR01573. SUPERTUBBY.
PR01574. TUBBYPROTEIN.
SUPFAMiSSF54518. SSF54518. 1 hit.
PROSITEiPS01200. TUB_1. 1 hit.
PS01201. TUB_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: P50607-1) [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
MTSKPHSDWI PYSVLDDEGR NLRQQKLDRQ RALLEQKQKK KRQEPLMVQA
60 70 80 90 100
NADGRPRSRR ARQSEEQAPL VESYLSSSGS TSYQVQEADS LASVQLGATR
110 120 130 140 150
PTAPASAKRT KAAATAGGQG GAARKEKKGK HKGTSGPAAL AEDKSEAQGP
160 170 180 190 200
VQILTVGQSD HAQDAGETAA GGGERPSGQD LRATMQRKGI SSSMSFDEDE
210 220 230 240 250
EDEEENSSSS SQLNSNTRPS SATSRKSVRE AASAPSPTAP EQPVDVEVQD
260 270 280 290 300
LEEFALRPAP QGITIKCRIT RDKKGMDRGM YPTYFLHLDR EDGKKVFLLA
310 320 330 340 350
GRKRKKSKTS NYLISVDPTD LSRGGDSYIG KLRSNLMGTK FTVYDNGVNP
360 370 380 390 400
QKASSSTLES GTLRQELAAV CYETNVLGFK GPRKMSVIVP GMNMVHERVS
410 420 430 440 450
IRPRNEHETL LARWQNKNTE SIIELQNKTP VWNDDTQSYV LNFHGRVTQA
460 470 480 490 500
SVKNFQIIHG NDPDYIVMQF GRVAEDVFTM DYNYPLCALQ AFAIALSSFD

SKLACE
Length:506
Mass (Da):55,651
Last modified:October 1, 1996 - v1
Checksum:iB2A7D230795346C3
GO
Isoform 2 (identifier: P50607-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MTSKPHSDWIPYS → MGARTPLPSF...YWKEGREIAR

Show »
Length:561
Mass (Da):62,091
Checksum:i1ADCBB761A60F6A6
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0230301 – 13MTSKP…WIPYS → MGARTPLPSFWVSFFAETGI LFPGGTPWPMGSQHSKQHRK PGPLKRGHRRDRRTTRRKYW KEGREIAR in isoform 2. 2 PublicationsAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U54644 mRNA. Translation: AAB53494.1.
U82467 mRNA. Translation: AAB53699.1.
CH471064 Genomic DNA. Translation: EAW68634.1.
BC075031 mRNA. Translation: AAH75031.1.
BC075032 mRNA. Translation: AAH75032.1.
CCDSiCCDS7786.1. [P50607-2]
CCDS7787.1. [P50607-1]
RefSeqiNP_003311.2. NM_003320.4. [P50607-2]
NP_813977.1. NM_177972.2. [P50607-1]
UniGeneiHs.568986.
Hs.733193.

Genome annotation databases

EnsembliENST00000299506; ENSP00000299506; ENSG00000166402. [P50607-1]
ENST00000305253; ENSP00000305426; ENSG00000166402. [P50607-2]
GeneIDi7275.
KEGGihsa:7275.
UCSCiuc001mfy.4. human. [P50607-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U54644 mRNA. Translation: AAB53494.1.
U82467 mRNA. Translation: AAB53699.1.
CH471064 Genomic DNA. Translation: EAW68634.1.
BC075031 mRNA. Translation: AAH75031.1.
BC075032 mRNA. Translation: AAH75032.1.
CCDSiCCDS7786.1. [P50607-2]
CCDS7787.1. [P50607-1]
RefSeqiNP_003311.2. NM_003320.4. [P50607-2]
NP_813977.1. NM_177972.2. [P50607-1]
UniGeneiHs.568986.
Hs.733193.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S31X-ray2.70A234-506[»]
ProteinModelPortaliP50607.
SMRiP50607.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113126. 5 interactors.
STRINGi9606.ENSP00000305426.

PTM databases

iPTMnetiP50607.
PhosphoSitePlusiP50607.

Polymorphism and mutation databases

BioMutaiTUB.
DMDMi1717821.

Proteomic databases

EPDiP50607.
PaxDbiP50607.
PeptideAtlasiP50607.
PRIDEiP50607.

Protocols and materials databases

DNASUi7275.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299506; ENSP00000299506; ENSG00000166402. [P50607-1]
ENST00000305253; ENSP00000305426; ENSG00000166402. [P50607-2]
GeneIDi7275.
KEGGihsa:7275.
UCSCiuc001mfy.4. human. [P50607-1]

Organism-specific databases

CTDi7275.
DisGeNETi7275.
GeneCardsiTUB.
HGNCiHGNC:12406. TUB.
HPAiHPA017997.
HPA049019.
MalaCardsiTUB.
MIMi601197. gene.
616188. phenotype.
neXtProtiNX_P50607.
OpenTargetsiENSG00000166402.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA37070.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2502. Eukaryota.
ENOG410XQFT. LUCA.
GeneTreeiENSGT00610000085970.
HOGENOMiHOG000016044.
HOVERGENiHBG018010.
InParanoidiP50607.
OMAiATMQRKG.
OrthoDBiEOG091G04TF.
PhylomeDBiP50607.
TreeFamiTF314076.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166402-MONOMER.

Miscellaneous databases

EvolutionaryTraceiP50607.
GeneWikiiTUB_(gene).
GenomeRNAii7275.
PROiP50607.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166402.
CleanExiHS_TUB.
ExpressionAtlasiP50607. baseline and differential.
GenevisibleiP50607. HS.

Family and domain databases

Gene3Di3.20.90.10. 1 hit.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR005398. Tubby_N.
[Graphical view]
PfamiPF01167. Tub. 1 hit.
PF16322. Tub_N. 1 hit.
[Graphical view]
PRINTSiPR01573. SUPERTUBBY.
PR01574. TUBBYPROTEIN.
SUPFAMiSSF54518. SSF54518. 1 hit.
PROSITEiPS01200. TUB_1. 1 hit.
PS01201. TUB_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTUB_HUMAN
AccessioniPrimary (citable) accession number: P50607
Secondary accession number(s): D3DQU4, O00293, Q6B007
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 133 of the entry and version 1 of the sequence. [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 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.