TULP1

Functionⁱ

Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.By similarity2 Publications

GO - Molecular functionⁱ

actin filament binding
Source: UniProtKB
Inferred from direct assayⁱ
- 16303976
phosphatidylinositol-4,5-bisphosphate binding
Source: UniProtKB
Inferred from direct assayⁱ
- 16303976
phosphatidylinositol binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

dendrite development Source: UniProtKB
detection of light stimulus involved in visual perception
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 15557452
eye photoreceptor cell development Source: UniProtKB
phagocytosis, recognition Source: Ensembl
photoreceptor cell maintenance Source: UniProtKB
positive regulation of phagocytosis
Source: UniProtKB
Inferred from direct assayⁱ
- 19837063
protein localization to cilium
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
protein localization to photoreceptor outer segment
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
receptor localization to non-motile cilium
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
retina development in camera-type eye Source: Ensembl
retina homeostasis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 15557452
visual perception
Source: ProtInc
Traceable author statementⁱ
- 9462750

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Phagocytosis, Sensory transduction, Vision

Biological process

Phagocytosis, Sensory transduction, Vision

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Tubby-related protein 1 Alternative name(s): Tubby-like protein 1
Gene namesⁱ	Name:TULP1 Synonyms:TUBL1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000112041.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:12423 TULP1
MIMⁱ	602280 gene
neXtProtⁱ	NX_O00294

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Cytoplasm, Membrane, Secreted, Synapse

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Retinitis pigmentosa 14 (RP14)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_013310	120 – 127	Missing in RP14. 1 Publication	8
Natural variantⁱVAR_008275	245	A → V in RP14. Corresponds to variant dbSNP:rs62636707EnsemblClinVar.	1
Natural variantⁱVAR_008277	261	K → T in RP14.	1
Natural variantⁱVAR_008278	378	R → H in RP14. Corresponds to variant dbSNP:rs148749577Ensembl.	1
Natural variantⁱVAR_037584	382	F → S in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909076EnsemblClinVar.	1
Natural variantⁱVAR_007941	420	R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909073EnsemblClinVar.	1
Natural variantⁱVAR_008279	454	T → M in RP14. Corresponds to variant dbSNP:rs138200747Ensembl.	1
Natural variantⁱVAR_007942	459	I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909075EnsemblClinVar.	1
Natural variantⁱVAR_065502	482	R → W in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909077EnsemblClinVar.	1
Natural variantⁱVAR_008280	489	K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs62636511EnsemblClinVar.	1
Natural variantⁱVAR_007943	491	F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909074EnsemblClinVar.	1
Natural variantⁱVAR_008281	496	A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs141980901EnsemblClinVar.	1

Leber congenital amaurosis 15 (LCA15)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_065500	368	G → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906837EnsemblClinVar.	1
Natural variantⁱVAR_065501	400	R → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906836EnsemblClinVar.	1
Natural variantⁱVAR_065503	529	A → AFA in LCA15. 1 Publication	1

Keywords - Diseaseⁱ

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7287
GeneReviewsⁱ	TULP1
MalaCards human disease database More...MalaCardsⁱ	TULP1
MIMⁱ	600132 phenotype 613843 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000112041
Orphanetⁱ	65 Leber congenital amaurosis 791 Retinitis pigmentosa
PharmGKBⁱ	PA37085

Polymorphism and mutation databases

BioMutaⁱ	TULP1

BioMutaⁱ

TULP1

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000186466	1 – 542	Tubby-related protein 1Add BLAST		542

Proteomic databases

PaxDbⁱ	O00294
PeptideAtlas More...PeptideAtlasⁱ	O00294
PRIDEⁱ	O00294
ProteomicsDBⁱ	47825 47826 [O00294-2]

PTM databases

iPTMnetⁱ	O00294
PhosphoSitePlusⁱ	O00294

Expressionⁱ

Tissue specificityⁱ

Retina-specific.

Gene expression databases

Bgeeⁱ	ENSG00000112041 Expressed in 68 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_TULP1
ExpressionAtlasⁱ	O00294 baseline and differential
Genevisibleⁱ	O00294 HS

Interactionⁱ

Subunit structureⁱ

Homodimer (Probable). May interact with ABCF1, PSIP1, ZEB1 and HMGB2 (Potential). Interacts with DNM1 (By similarity). Interacts with F-actin. Interacts with TUB (By similarity). Interacts with TYRO3 (By similarity).By similarityCurated

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
NCK1	P16333	2	EBI-1756778,EBI-389883

With

Entry

#Exp.

IntAct

Notes

NCK1

P16333

2

EBI-1756778,EBI-389883

GO - Molecular functionⁱ

actin filament binding
Source: UniProtKB
Inferred from direct assayⁱ
- 16303976

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	113138, 2 interactors
IntActⁱ	O00294, 5 interactors
STRINGⁱ	9606.ENSP00000229771

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	294 – 296	Combined sources	3
Beta strandⁱ	304 – 311	Combined sources	8
Beta strandⁱ	323 – 332	Combined sources	10
Beta strandⁱ	335 – 341	Combined sources	7
Beta strandⁱ	349 – 354	Combined sources	6
Beta strandⁱ	366 – 372	Combined sources	7
Beta strandⁱ	374 – 382	Combined sources	9
Beta strandⁱ	384 – 386	Combined sources	3
Helixⁱ	388 – 390	Combined sources	3
Helixⁱ	396 – 398	Combined sources	3
Beta strandⁱ	402 – 408	Combined sources	7
Beta strandⁱ	414 – 416	Combined sources	3
Beta strandⁱ	421 – 426	Combined sources	6
Helixⁱ	446 – 452	Combined sources	7
Beta strandⁱ	458 – 463	Combined sources	6
Beta strandⁱ	467 – 469	Combined sources	3
Turnⁱ	470 – 473	Combined sources	4
Beta strandⁱ	474 – 476	Combined sources	3
Beta strandⁱ	491 – 495	Combined sources	5
Beta strandⁱ	503 – 510	Combined sources	8
Beta strandⁱ	513 – 519	Combined sources	7
Helixⁱ	524 – 533	Combined sources	10

Show more details

3D structure databases

ProteinModelPortalⁱ	O00294
SMRⁱ	O00294
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ

O00294

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	115 – 131	Poly-GluAdd BLAST		17
Compositional biasⁱ	248 – 254	Poly-Glu		7

Sequence similaritiesⁱ

Belongs to the TUB family.Curated

Phylogenomic databases

eggNOGⁱ	KOG2502 Eukaryota ENOG410XQFT LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00610000085970
HOGENOMⁱ	HOG000016044
HOVERGENⁱ	HBG018010
InParanoidⁱ	O00294
KEGG Orthology (KO) More...KOⁱ	K19600
OMAⁱ	MPLQDDT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G04TF
PhylomeDBⁱ	O00294
TreeFamⁱ	TF314076

Family and domain databases

Gene3Dⁱ	3.20.90.10, 1 hit
InterProⁱ	View protein in InterPro IPR025659 Tubby-like_C IPR000007 Tubby_C IPR018066 Tubby_C_CS
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01167 Tub, 1 hit
PRINTSⁱ	PR01573 SUPERTUBBY
SUPFAMⁱ	SSF54518 SSF54518, 1 hit
PROSITEⁱ	View 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. Align Add to basket

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

Isoform 1 (identifier: O00294-1) [UniParc]FASTA Add 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
MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE 
        60         70         80         90        100
SPCPTGSKPR KPGAGRTGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR 
       110        120        130        140        150
DPRETFLVAR APDAEDEEEE EEEDEEDEEE EAEEKKEKIL LPPKKPLREK 
       160        170        180        190        200
SSADLKERRA KAQGPRGDLG SPDPPPKPLR VRNKEAPAGE GTKMRKTKKK 
       210        220        230        240        250
GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG TPKGARKEEE 
       260        270        280        290        300
EEEEAATVIK KSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP 
       310        320        330        340        350
QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY 
       360        370        380        390        400
LISIDPTNLS RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR 
       410        420        430        440        450
QELAAVIYET NVLGFRGPRR MTVIIPGMSA ENERVPIRPR NASDGLLVRW 
       460        470        480        490        500
QNKTLESLIE LHNKPPVWND DSGSYTLNFQ GRVTQASVKN FQIVHADDPD 
       510        520        530        540 
YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA CE

Length:542

Mass (Da):60,609

Last modified:September 23, 2008 - v3

Checksum:ⁱ65320103E2674B60

GO

Isoform 2 (identifier: O00294-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
64-116: Missing.

« Hide

        10         20         30         40         50
MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE 
        60         70         80         90        100
SPCPTGSKPR KPGEEEEEEE DEEDEEEEAE EKKEKILLPP KKPLREKSSA 
       110        120        130        140        150
DLKERRAKAQ GPRGDLGSPD PPPKPLRVRN KEAPAGEGTK MRKTKKKGSG 
       160        170        180        190        200
EADKDPSGSP ASARKSPAAM FLVGEGSPDK KALKKKGTPK GARKEEEEEE 
       210        220        230        240        250
EAATVIKKSN QKGKAKGKGK KKAKEERAPS PPVEVDEPRE FVLRPAPQGR 
       260        270        280        290        300
TVRCRLTRDK KGMDRGMYPS YFLHLDTEKK VFLLAGRKRK RSKTANYLIS 
       310        320        330        340        350
IDPTNLSRGG ENFIGKLRSN LLGNRFTVFD NGQNPQRGYS TNVASLRQEL 
       360        370        380        390        400
AAVIYETNVL GFRGPRRMTV IIPGMSAENE RVPIRPRNAS DGLLVRWQNK 
       410        420        430        440        450
TLESLIELHN KPPVWNDDSG SYTLNFQGRV TQASVKNFQI VHADDPDYIV 
       460        470        480 
LQFGRVAEDA FTLDYRYPLC ALQAFAIALS SFDGKLACE

Show »

Length:489

Mass (Da):54,667

Checksum:ⁱA687CD39AB3E8000

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A087WT25	A0A087WT25_HUMAN	Tubby-like protein Tubby-like protein	TULP1	540	Annotation score:
Q5TGM7	Q5TGM7_HUMAN	Tubby-related protein 1 Tubby-related protein 1	TULP1	161	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_008274	67	T → R2 PublicationsCorresponds to variant dbSNP:rs7764472EnsemblClinVar.	1
Natural variantⁱVAR_013310	120 – 127	Missing in RP14. 1 Publication	8
Natural variantⁱVAR_008275	245	A → V in RP14. Corresponds to variant dbSNP:rs62636707EnsemblClinVar.	1
Natural variantⁱVAR_008276	259	I → T1 PublicationCorresponds to variant dbSNP:rs2064317EnsemblClinVar.	1
Natural variantⁱVAR_034575	261	K → N4 PublicationsCorresponds to variant dbSNP:rs2064318EnsemblClinVar.	1
Natural variantⁱVAR_008277	261	K → T in RP14.	1
Natural variantⁱVAR_065500	368	G → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906837EnsemblClinVar.	1
Natural variantⁱVAR_008278	378	R → H in RP14. Corresponds to variant dbSNP:rs148749577Ensembl.	1
Natural variantⁱVAR_037584	382	F → S in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909076EnsemblClinVar.	1
Natural variantⁱVAR_065501	400	R → W in LCA15. 1 PublicationCorresponds to variant dbSNP:rs387906836EnsemblClinVar.	1
Natural variantⁱVAR_007941	420	R → P in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909073EnsemblClinVar.	1
Natural variantⁱVAR_008279	454	T → M in RP14. Corresponds to variant dbSNP:rs138200747Ensembl.	1
Natural variantⁱVAR_007942	459	I → K in RP14; no effect on RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909075EnsemblClinVar.	1
Natural variantⁱVAR_065502	482	R → W in RP14. 1 PublicationCorresponds to variant dbSNP:rs121909077EnsemblClinVar.	1
Natural variantⁱVAR_008280	489	K → R in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs62636511EnsemblClinVar.	1
Natural variantⁱVAR_007943	491	F → L in RP14; abolishes RPE phagocytosis. 2 PublicationsCorresponds to variant dbSNP:rs121909074EnsemblClinVar.	1
Natural variantⁱVAR_008281	496	A → T in RP14; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs141980901EnsemblClinVar.	1
Natural variantⁱVAR_065503	529	A → AFA in LCA15. 1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_023031	64 – 116	Missing in isoform 2. 1 PublicationAdd BLAST		53

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U82468 mRNA Translation: AAB53700.1 AF034923 AF034922 Genomic DNA Translation: AAB97966.1 AL033519 Genomic DNA No translation available. BC032714 mRNA Translation: AAH32714.1 BC065261 mRNA Translation: AAH65261.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4807.1 [O00294-1] CCDS75436.1 [O00294-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001276324.1, NM_001289395.1 [O00294-2] NP_003313.3, NM_003322.5 [O00294-1]
UniGeneⁱ	Hs.485208

Genome annotation databases

Ensemblⁱ	ENST00000229771; ENSP00000229771; ENSG00000112041 [O00294-1] ENST00000322263; ENSP00000319414; ENSG00000112041 [O00294-2]
GeneIDⁱ	7287
KEGGⁱ	hsa:7287
UCSC genome browser More...UCSCⁱ	uc003okv.6 human [O00294-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O00294	Tubby like protein 1 (Fragment)		HUMAN		20	UniRef100_O00294
UPI0001754651		HUMAN		246

Protein	Similar proteins		Species	Score	Length	Source
O00294	Tubby like protein 1 (Fragment)		HUMAN		20	UniRef90_O00294
Tubby-like protein		CALJA		544
Tubby-like protein		AOTNA		543
Tubby-like protein		CERAT		542
Tubby-like protein		GORGO		542
+42
O00294-2	Tubby-like protein		AOTNA		500	UniRef90_O00294-2
Tubby-like protein		PANTR		492
Tubby-like protein		PONAB		492
Tubby-like protein		CALJA		491
Tubby-like protein		RHIRO		489
+19

Protein	Similar proteins		Species	Score	Length	Source
O00294	Tubby-related protein 1		MOUSE		543	UniRef50_O00294
Tubby like protein 1 (Fragment)		HUMAN		20
Tubby-like protein		CALJA		544
Tubby-like protein		AOTNA		543
Tubby-like protein		MACMU		542
+278
O00294-2	Tubby-like protein		AOTNA		500	UniRef50_O00294-2
Tubby-like protein		PONAB		492
Tubby-like protein		PANTR		492
Tubby-like protein		CALJA		491
Tubby-like protein		COLAP		489
+73

Cross-referencesⁱ

Web resourcesⁱ

Mutations of the TULP1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U82468 mRNA Translation: AAB53700.1 AF034923 AF034922 Genomic DNA Translation: AAB97966.1 AL033519 Genomic DNA No translation available. BC032714 mRNA Translation: AAH32714.1 BC065261 mRNA Translation: AAH65261.1
CCDSⁱ	CCDS4807.1 [O00294-1] CCDS75436.1 [O00294-2]
RefSeqⁱ	NP_001276324.1, NM_001289395.1 [O00294-2] NP_003313.3, NM_003322.5 [O00294-1]
UniGeneⁱ	Hs.485208

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2FIM	X-ray	1.90	A/B	290-542	[»]
	3C5N	X-ray	1.80	A/B	291-536	[»]
ProteinModelPortalⁱ	O00294
SMRⁱ	O00294
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113138, 2 interactors
IntActⁱ	O00294, 5 interactors
STRINGⁱ	9606.ENSP00000229771

PTM databases

iPTMnetⁱ	O00294
PhosphoSitePlusⁱ	O00294

Polymorphism and mutation databases

BioMutaⁱ	TULP1

BioMutaⁱ

TULP1

Proteomic databases

PaxDbⁱ	O00294
PeptideAtlasⁱ	O00294
PRIDEⁱ	O00294
ProteomicsDBⁱ	47825 47826 [O00294-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	7287
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000229771; ENSP00000229771; ENSG00000112041 [O00294-1] ENST00000322263; ENSP00000319414; ENSG00000112041 [O00294-2]
GeneIDⁱ	7287
KEGGⁱ	hsa:7287
UCSCⁱ	uc003okv.6 human [O00294-1]

Organism-specific databases

CTDⁱ	7287
DisGeNETⁱ	7287
EuPathDBⁱ	HostDB:ENSG00000112041.12
GeneCardsⁱ	TULP1
GeneReviewsⁱ	TULP1
H-InvDBⁱ	HIX0005807
HGNCⁱ	HGNC:12423 TULP1
MalaCardsⁱ	TULP1
MIMⁱ	600132 phenotype 602280 gene 613843 phenotype
neXtProtⁱ	NX_O00294
OpenTargetsⁱ	ENSG00000112041
Orphanetⁱ	65 Leber congenital amaurosis 791 Retinitis pigmentosa
PharmGKBⁱ	PA37085
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2502 Eukaryota ENOG410XQFT LUCA
GeneTreeⁱ	ENSGT00610000085970
HOGENOMⁱ	HOG000016044
HOVERGENⁱ	HBG018010
InParanoidⁱ	O00294
KOⁱ	K19600
OMAⁱ	MPLQDDT
OrthoDBⁱ	EOG091G04TF
PhylomeDBⁱ	O00294
TreeFamⁱ	TF314076

Miscellaneous databases

EvolutionaryTraceⁱ	O00294
GeneWikiⁱ	TULP1
GenomeRNAiⁱ	7287
Protein Ontology More...PROⁱ	PR:O00294
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000112041 Expressed in 68 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_TULP1
ExpressionAtlasⁱ	O00294 baseline and differential
Genevisibleⁱ	O00294 HS

Family and domain databases

Gene3Dⁱ	3.20.90.10, 1 hit
InterProⁱ	View protein in InterPro IPR025659 Tubby-like_C IPR000007 Tubby_C IPR018066 Tubby_C_CS
Pfamⁱ	View protein in Pfam PF01167 Tub, 1 hit
PRINTSⁱ	PR01573 SUPERTUBBY
SUPFAMⁱ	SSF54518 SSF54518, 1 hit
PROSITEⁱ	View protein in PROSITE PS01200 TUB_1, 1 hit PS01201 TUB_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TULP1_HUMAN
Accessionⁱ	O00294Primary (citable) accession number: O00294 Secondary accession number(s): O43536, Q5TGM5, Q8N571
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
	Last sequence update:	September 23, 2008
	Last modified:	November 7, 2018
	This is version 157 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM

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Supporting data

UniProtKB - O00294 (TULP1_HUMAN)

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Tubby-related protein 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Extracellular region or secreted

Other locations

Cytosol

Extracellular region or secreted

Plasma Membrane

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ