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Protein

Tubby protein homolog

Gene

TUB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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-containing complex binding Source: MGI

GO - Biological processi

Keywordsi

Biological processPhagocytosis, Sensory transduction

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

EuPathDBiHostDB:ENSG00000166402.8
HGNCiHGNC:12406 TUB
MIMi601197 gene
neXtProtiNX_P50607

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

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
ProteomicsDBi56256
56257 [P50607-2]

PTM databases

iPTMnetiP50607
PhosphoSitePlusiP50607

Expressioni

Gene expression databases

BgeeiENSG00000166402 Expressed in 182 organ(s), highest expression level in substantia nigra pars reticulata
CleanExiHS_TUB
ExpressionAtlasiP50607 baseline and differential
GenevisibleiP50607 HS

Organism-specific databases

HPAiHPA017997
HPA049019

Interactioni

Subunit structurei

Interacts with GNAQ. Interacts with TULP1.By similarity

Protein-protein interaction databases

BioGridi113126, 5 interactors
STRINGi9606.ENSP00000305426

Structurei

Secondary structure

1506
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiFQIIHGN
OrthoDBiEOG091G04TF
PhylomeDBiP50607
TreeFamiTF314076

Family and domain databases

Gene3Di3.20.90.10, 1 hit
InterProiView protein in InterPro
IPR025659 Tubby-like_C
IPR000007 Tubby_C
IPR018066 Tubby_C_CS
IPR005398 Tubby_N
PfamiView protein in Pfam
PF01167 Tub, 1 hit
PF16322 Tub_N, 1 hit
PRINTSiPR01573 SUPERTUBBY
PR01574 TUBBYPROTEIN
SUPFAMiSSF54518 SSF54518, 1 hit
PROSITEiView protein in PROSITE
PS01200 TUB_1, 1 hit
PS01201 TUB_2, 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 1 potential isoform that is computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PQR4E9PQR4_HUMAN
Tubby-like protein
TUB
512Annotation score:

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

Similar proteinsi

Entry informationi

Entry nameiTUB_HUMAN
AccessioniPrimary (citable) accession number: P50607
Secondary accession number(s): D3DQU4, O00293, Q6B007
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 12, 2018
This is version 142 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

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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