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Q9NRJ4 (TULP4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tubby-related protein 4
Alternative name(s):
Tubby superfamily protein
Tubby-like protein 4
Gene names
Name:TULP4
Synonyms:KIAA1397, TUBL4, TUSP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1543 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins By similarity.

Pathway

Protein modification; protein ubiquitination.

Subcellular location

Cytoplasm.

Tissue specificity

Expressed mainly in the brain, skeletal muscle, testis and kidney.

Domain

The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes By similarity.

Sequence similarities

Belongs to the TUB family.

Contains 1 SOCS box domain.

Contains 3 WD repeats.

Sequence caution

The sequence AAF87975.1 differs from that shown. Reason: Frameshift at positions 740 and 744.

The sequence BAA92635.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NRJ4-1)

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: Q9NRJ4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     672-678: VTGASGV → GDAVWTD
     679-1543: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15431543Tubby-related protein 4
PRO_0000186472

Regions

Repeat80 – 11940WD 1
Repeat123 – 16240WD 2
Repeat165 – 20440WD 3
Domain364 – 41451SOCS box
Region1466 – 154378TUB

Natural variations

Alternative sequence672 – 6787VTGASGV → GDAVWTD in isoform 2.
VSP_006676
Alternative sequence679 – 1543865Missing in isoform 2.
VSP_006677
Natural variant1991R → S.
Corresponds to variant rs705956 [ dbSNP | Ensembl ].
VAR_059841
Natural variant2141G → S.
Corresponds to variant rs35262826 [ dbSNP | Ensembl ].
VAR_052417
Natural variant5221S → N.
Corresponds to variant rs12206717 [ dbSNP | Ensembl ].
VAR_052418
Natural variant9791D → N.
Corresponds to variant rs34622886 [ dbSNP | Ensembl ].
VAR_052419
Natural variant10841V → I.
Corresponds to variant rs34559793 [ dbSNP | Ensembl ].
VAR_052420
Natural variant12811P → T.
Corresponds to variant rs3749852 [ dbSNP | Ensembl ].
VAR_052421

Experimental info

Sequence conflict7451P → Q in AAF87975. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 4, 2008. Version 2.
Checksum: 803AB78FF8DF2E98

FASTA1,543169,000
        10         20         30         40         50         60 
MYAAVEHGPV LCSDSNILCL SWKGRVPKSE KEKPVCRRRY YEEGWLATGN GRGVVGVTFT 

        70         80         90        100        110        120 
SSHCRRDRST PQRINFNLRG HNSEVVLVRW NEPYQKLATC DADGGIFVWI QYEGRWSVEL 

       130        140        150        160        170        180 
VNDRGAQVSD FTWSHDGTQA LISYRDGFVL VGSVSGQRHW SSEINLESQI TCGIWTPDDQ 

       190        200        210        220        230        240 
QVLFGTADGQ VIVMDCHGRM LAHVLLHESD GVLGMSWNYP IFLVEDSSES DTDSDDYAPP 

       250        260        270        280        290        300 
QDGPAAYPIP VQNIKPLLTV SFTSGDISLM NNYDDLSPTV IRSGLKEVVA QWCTQGDLLA 

       310        320        330        340        350        360 
VAGMERQTQL GELPNGPLLK SAMVKFYNVR GEHIFTLDTL VQRPIISICW GHRDSRLLMA 

       370        380        390        400        410        420 
SGPALYVVRV EHRVSSLQLL CQQAIASTLR EDKDVSKLTL PPRLCSYLST AFIPTIKPPI 

       430        440        450        460        470        480 
PDPNNMRDFV SYPSAGNERL HCTMKRTEDD PEVGGPCYTL YLEYLGGLVP ILKGRRISKL 

       490        500        510        520        530        540 
RPEFVIMDPR TDSKPDEIYG NSLISTVIDS CNCSDSSDIE LSDDWAAKKS PKISRASKSP 

       550        560        570        580        590        600 
KLPRISIEAR KSPKLPRAAQ ELSRSPRLPL RKPSVGSPSL TRREFPFEDI TQHNYLAQVT 

       610        620        630        640        650        660 
SNIWGTKFKI VGLAAFLPTN LGAVIYKTSL LHLQPRQMTI YLPEVRKISM DYINLPVFNP 

       670        680        690        700        710        720 
NVFSEDEDDL PVTGASGVPE NSPPCTVNIP IAPIHSSAQA MSPTQSIGLV QSLLANQNVQ 

       730        740        750        760        770        780 
LDVLTNQTTA VGTAEHAGDS ATQYPVSNRY SNPGQVIFGS VEMGRIIQNP PPLSLPPPPQ 

       790        800        810        820        830        840 
GPMQLSTVGH GDRDHEHLQK SAKALRPTPQ LAAEGDAVVF SAPQEVQVTK INPPPPYPGT 

       850        860        870        880        890        900 
IPAAPTTAAP PPPLPPPQPP VDVCLKKGDF SLYPTSVHYQ TPLGYERITT FDSSGNVEEV 

       910        920        930        940        950        960 
CRPRTRMLCS QNTYTLPGPG SSATLRLTAT EKKVPQPCSS ATLNRLTVPR YSIPTGDPPP 

       970        980        990       1000       1010       1020 
YPEIASQLAQ GRGAAQRSDN SLIHATLRRN NREATLKMAQ LADSPRAPLQ PLAKSKGGPG 

      1030       1040       1050       1060       1070       1080 
GVVTQLPARP PPALYTCSQC SGTGPSSQPG ASLAHTASAS PLASQSSYSL LSPPDSARDR 

      1090       1100       1110       1120       1130       1140 
TDYVNSAFTE DEALSQHCQL EKPLRHPPLP EAAVTLKRPP PYQWDPMLGE DVWVPQERTA 

      1150       1160       1170       1180       1190       1200 
QTSGPNPLKL SSLMLSQGQH LDVSRLPFIS PKSPASPTAT FQTGYGMGVP YPGSYNNPPL 

      1210       1220       1230       1240       1250       1260 
PGVQAPCSPK DALSPTQFAQ QEPAVVLQPL YPPSLSYCTL PPMYPGSSTC SSLQLPPVAL 

      1270       1280       1290       1300       1310       1320 
HPWSSYSACP PMQNPQGTLP PKPHLVVEKP LVSPPPADLQ SHLGTEVMVE TADNFQEVLS 

      1330       1340       1350       1360       1370       1380 
LTESPVPQRT EKFGKKNRKR LDSRAEEGSV QAITEGKVKK EARTLSDFNS LISSPHLGRE 

      1390       1400       1410       1420       1430       1440 
KKKVKSQKDQ LKSKKLNKTN EFQDSSESEP ELFISGDELM NQSQGSRKGW KSKRSPRAAG 

      1450       1460       1470       1480       1490       1500 
ELEEAKCRRA SEKEDGRLGS QGFVYVMANK QPLWNEATQV YQLDFGGRVT QESAKNFQIE 

      1510       1520       1530       1540 
LEGRQVMQFG RIDGSAYILD FQYPFSAVQA FAVALANVTQ RLK 

« Hide

Isoform 2 [UniParc].

Checksum: 6C2EA8130490EE32
Show »

FASTA67875,852

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of the mouse and human TUSP gene, a novel member of the tubby superfamily."
Li Q.-Z., Wang C.-Y., Shi J.-D., Ruan Q.-G., Eckenrode S., Davoodi-Semiromi A., Kukar T., Gu Y., Lian W., Wu D., She J.-X.
Gene 273:275-284(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING.
Tissue: Brain.
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF219946 mRNA. Translation: AAF87975.1. Frameshift.
AF288480 mRNA. Translation: AAG01020.1.
AB037818 mRNA. Translation: BAA92635.1. Different initiation.
AL360169, AL353800 Genomic DNA. Translation: CAI16559.1.
AL360169, AL353800 Genomic DNA. Translation: CAI16560.1.
AL353800, AL360169 Genomic DNA. Translation: CAI20993.1.
AL353800, AL360169 Genomic DNA. Translation: CAI20994.1.
CH471051 Genomic DNA. Translation: EAW47661.1.
CH471051 Genomic DNA. Translation: EAW47662.1.
BC152476 mRNA. Translation: AAI52477.1.
RefSeqNP_001007467.1. NM_001007466.2.
NP_064630.2. NM_020245.4.
XP_005267114.1. XM_005267057.1.
UniGeneHs.486993.

3D structure databases

ProteinModelPortalQ9NRJ4.
SMRQ9NRJ4. Positions 45-218, 1483-1537.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121310. 2 interactions.
IntActQ9NRJ4. 4 interactions.

PTM databases

PhosphoSiteQ9NRJ4.

Polymorphism databases

DMDM212276475.

Proteomic databases

PaxDbQ9NRJ4.
PRIDEQ9NRJ4.

Protocols and materials databases

DNASU56995.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367094; ENSP00000356061; ENSG00000130338. [Q9NRJ4-2]
ENST00000367097; ENSP00000356064; ENSG00000130338. [Q9NRJ4-1]
GeneID56995.
KEGGhsa:56995.
UCSCuc003qrf.3. human. [Q9NRJ4-1]
uc003qrg.3. human. [Q9NRJ4-2]

Organism-specific databases

CTD56995.
GeneCardsGC06P158733.
H-InvDBHIX0006328.
HGNCHGNC:15530. TULP4.
HPAHPA005445.
neXtProtNX_Q9NRJ4.
PharmGKBPA134880863.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG255100.
HOGENOMHOG000060128.
HOVERGENHBG058280.
InParanoidQ9NRJ4.
OMAPPYPEIA.
OrthoDBEOG78H3SJ.
PhylomeDBQ9NRJ4.
TreeFamTF314076.

Enzyme and pathway databases

SignaLinkQ9NRJ4.
UniPathwayUPA00143.

Gene expression databases

BgeeQ9NRJ4.
CleanExHS_TULP4.
GenevestigatorQ9NRJ4.

Family and domain databases

Gene3D2.130.10.10. 2 hits.
3.20.90.10. 3 hits.
InterProIPR001496. SOCS_C.
IPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR008983. Tumour_necrosis_fac-like_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF07525. SOCS_box. 1 hit.
PF01167. Tub. 1 hit.
PF00400. WD40. 1 hit.
[Graphical view]
SMARTSM00969. SOCS_box. 1 hit.
SM00320. WD40. 2 hits.
[Graphical view]
SUPFAMSSF49842. SSF49842. 1 hit.
SSF50978. SSF50978. 2 hits.
SSF54518. SSF54518. 2 hits.
PROSITEPS50225. SOCS. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTULP4. human.
GenomeRNAi56995.
NextBio62701.
PROQ9NRJ4.

Entry information

Entry nameTULP4_HUMAN
AccessionPrimary (citable) accession number: Q9NRJ4
Secondary accession number(s): Q5T3M2 expand/collapse secondary AC list , Q5T3M3, Q9HD22, Q9P2F0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: November 4, 2008
Last modified: April 16, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM