Reviewed, UniProtKB/Swiss-Prot O00294 (TULP1_HUMAN)

Names and origin

Protein names

Recommended name:
    Tubby-related protein 1
Alternative name(s):
    Tubby-like protein 1

Gene names

Name:	TULP1
Synonyms:	TUBL1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	542 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Not known; probably plays an essential role in the physiology of photoreceptors.
Tissue specificity	Retinal specific.
Involvement in disease	Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) [MIM:600132]. RP leads to degeneration of retinal photoreceptor cells. 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. RP14 inheritance is autosomal recessive. Ref.5 Ref.6 Ref.7
Sequence similarities	Belongs to the TUB family.
Sequence caution	The sequence CAI20251.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Retinitis pigmentosa
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Ref.6 Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FYN	P06241	1	EBI-1756778,EBI-515315
GRB2	P62993	1	EBI-1756778,EBI-401755
NCK1	P16333	1	EBI-1756778,EBI-389883

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O00294-1)

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.

Isoform 2 (identifier: O00294-2)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 542

542

Tubby-related protein 1

PRO_0000186466

Regions

Compositional bias

115 – 131

17

Poly-Glu

Compositional bias

248 – 254

7

Poly-Glu

Natural variations

Alternative sequence

64 – 116

53

Missing in isoform 2.

VSP_023031

Natural variant

67

1

T → R: dbSNP rs7764472. Ref.1 Ref.2

VAR_008274

Natural variant

120 – 127

8

Missing in RP14.

VAR_013310

Natural variant

245

1

A → V in RP14.

VAR_008275

Natural variant

259

1

I → T in RP14. dbSNP rs2064317.

VAR_008276

Natural variant

261

1

K → N: dbSNP rs2064318. Ref.1 Ref.2 Ref.4

VAR_034575

Natural variant

261

1

K → T in RP14.

VAR_008277

Natural variant

378

1

R → H in RP14.

VAR_008278

Natural variant

382

1

F → S in RP14. Ref.7

VAR_037584

Natural variant

420

1

R → P in RP14. Ref.6

VAR_007941

Natural variant

454

1

T → M in RP14.

VAR_008279

Natural variant

459

1

I → K in RP14. Ref.6

VAR_007942

Natural variant

489

1

K → R in RP14. Ref.5

VAR_008280

Natural variant

491

1

F → L in RP14. Ref.6

VAR_007943

Natural variant

496

1

A → T in RP14. Ref.5

VAR_008281

Secondary structure

1

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542

Helix Strand Turn

Details...

Helix

294 – 296

3

Beta strand

305 – 312

8

Beta strand

323 – 328

6

Beta strand

330 – 332

3

Beta strand

334 – 341

8

Beta strand

349 – 354

6

Beta strand

366 – 372

7

Beta strand

374 – 382

9

Beta strand

384 – 386

3

Helix

388 – 390

3

Helix

396 – 398

3

Beta strand

402 – 408

7

Beta strand

421 – 426

6

Helix

446 – 452

7

Beta strand

458 – 463

6

Beta strand

467 – 469

3

Turn

470 – 473

4

Beta strand

474 – 476

3

Beta strand

491 – 494

4

Beta strand

503 – 510

8

Beta strand

513 – 518

6

Helix

524 – 533

10

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 23, 2008. Version 3. Checksum: 65320103E2674B60	FASTA	542	60,609
	10 20 30 40 50 60 MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE SPCPTGSKPR 70 80 90 100 110 120 KPGAGRTGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR DPRETFLVAR APDAEDEEEE 130 140 150 160 170 180 EEEDEEDEEE EAEEKKEKIL LPPKKPLREK SSADLKERRA KAQGPRGDLG SPDPPPKPLR 190 200 210 220 230 240 VRNKEAPAGE GTKMRKTKKK GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG 250 260 270 280 290 300 TPKGARKEEE EEEEAATVIK KSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP 310 320 330 340 350 360 QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY LISIDPTNLS 370 380 390 400 410 420 RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR QELAAVIYET NVLGFRGPRR 430 440 450 460 470 480 MTVIIPGMSA ENERVPIRPR NASDGLLVRW QNKTLESLIE LHNKPPVWND DSGSYTLNFQ 490 500 510 520 530 540 GRVTQASVKN FQIVHADDPD YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA CE
	Isoform 2. Checksum: A687CD39AB3E8000	FASTA	489	54,667
	10 20 30 40 50 60 MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE SPCPTGSKPR 70 80 90 100 110 120 KPGEEEEEEE DEEDEEEEAE EKKEKILLPP KKPLREKSSA DLKERRAKAQ GPRGDLGSPD 130 140 150 160 170 180 PPPKPLRVRN KEAPAGEGTK MRKTKKKGSG EADKDPSGSP ASARKSPAAM FLVGEGSPDK 190 200 210 220 230 240 KALKKKGTPK GARKEEEEEE EAATVIKKSN QKGKAKGKGK KKAKEERAPS PPVEVDEPRE 250 260 270 280 290 300 FVLRPAPQGR TVRCRLTRDK KGMDRGMYPS YFLHLDTEKK VFLLAGRKRK RSKTANYLIS 310 320 330 340 350 360 IDPTNLSRGG ENFIGKLRSN LLGNRFTVFD NGQNPQRGYS TNVASLRQEL AAVIYETNVL 370 380 390 400 410 420 GFRGPRRMTV IIPGMSAENE RVPIRPRNAS DGLLVRWQNK TLESLIELHN KPPVWNDDSG 430 440 450 460 470 480 SYTLNFQGRV TQASVKNFQI VHADDPDYIV LQFGRVAEDA FTLDYRYPLC ALQAFAIALS SFDGKLACE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases." North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M. Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997) [PubMed: 9096357] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-67 AND ASN-261. Tissue: Retina.
[2]	"TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa." Banerjee P., Kleyn P.W., Knowles J.A., Lewis C.A., Ross B.M., Parano E., Kovats S.G., Lee J.J., Penchaszadeh G.K., Ott J., Jacobson S.G., Gilliam T.C. Nat. Genet. 18:177-179(1998) [PubMed: 9462751] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-67 AND ASN-261.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASN-261. Tissue: Eye.
[5]	"Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa." Gu S., Lennon A., Li Y., Lorenz B., Fossarello M., North M., Gal A., Wright A. Lancet 351:1103-1104(1998) [PubMed: 9660588] [Abstract] Cited for: VARIANTS RP14 120-GLU--ASP-127 DEL; ARG-489 AND THR-496.
[6]	"Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa." Hagstrom S.A., North M.A., Nishina P.M., Berson E.L., Dryja T.P. Nat. Genet. 18:174-176(1998) [PubMed: 9462750] [Abstract] Cited for: VARIANTS RP14 PRO-420; LYS-459 AND LEU-491.
[7]	"A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers." Kondo H., Qin M., Mizota A., Kondo M., Hayashi H., Hayashi K., Oshima K., Tahira T., Hayashi K. Invest. Ophthalmol. Vis. Sci. 45:4433-4439(2004) [PubMed: 15557452] [Abstract] Cited for: VARIANT RP14 SER-382.
+	Additional computationally mapped references.

Web resources

Mutations of the TULP1 gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBLGenBankDDBJ

U82468 mRNA. Translation: AAB53700.1.
AF034923 , AF034919, AF034920, AF034921, AF034922 Genomic DNA. Translation: AAB97966.1.
AL033519 Genomic DNA. Translation: CAI20251.1. Sequence problems.
BC032714 mRNA. Translation: AAH32714.1.
BC065261 mRNA. Translation: AAH65261.1.

IPI

IPI00010894.
IPI00827823.

RefSeq

NP_003313.3.

UniGene

Hs.485208

3D structure databases

PDBPDBe

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	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

O00294. 3 interactions.

STRING

O00294.

PTM databases

PhosphoSite

O00294.

Genome annotation databases

Ensembl

ENST00000229771; ENSP00000229771; ENSG00000112041; Homo sapiens. [Genome view]
ENST00000322263; ENSP00000319414; ENSG00000112041; Homo sapiens. [Genome view]
ENST00000373892; ENSP00000362999; ENSG00000112041; Homo sapiens. [Genome view]
ENST00000428978; ENSP00000406765; ENSG00000112041; Homo sapiens. [Genome view]
ENST00000448446; ENSP00000406503; ENSG00000112041; Homo sapiens. [Genome view]

GeneID

7287.

KEGG

hsa:7287.

UCSC

uc003okv.2. human.
uc003okw.2. human.

Organism-specific databases

CTD

7287.

GeneCards

GC06M035573.

H-InvDB

HIX0005807.

HGNC

HGNC:12423. TULP1.

MIM

600132. phenotype.
602280. gene.

Orphanet

65. Leber amaurosis, congenital.
791. Retinitis pigmentosa.

PharmGKB

PA37085.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

O00294.

HOVERGEN

O00294.

OMA

GQNPQRG.

Gene expression databases

ArrayExpress

O00294.

Bgee

O00294.

CleanEx

HS_TULP1.

Genevestigator

O00294.

GermOnline

ENSG00000112041. Homo sapiens.

Family and domain databases

InterPro

IPR000007. Tubby_C.
IPR018066. Tubby_C_CS.
[Graphical view]

Gene3D

G3DSA:3.20.90.10. Tubby_C. 1 hit.

Pfam

PF01167. Tub. 1 hit.
[Graphical view]

PRINTS

PR01573. SUPERTUBBY.

PROSITE

PS01200. TUB_1. 1 hit.
PS01201. TUB_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

28491.

SOURCE

Search...

Entry information

Entry name

TULP1_HUMAN

Accession

Primary (citable) accession number: O00294
Secondary accession number(s): O43536, Q5TGM5, Q8N571

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	September 23, 2008
Last modified:	November 3, 2009
This is version 84 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.