Q5JSH3 (WDR44_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 80.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: WD repeat-containing protein 44 Alternative name(s): Rabphilin-11 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 913 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Downstream effector for RAB11. May be involved in vesicle recycling By similarity. |
| Subunit structure | Interacts with the GTP-bound form of RAB11 when membrane-associated. Does not bind to other Rab and Rho small G proteins By similarity. |
| Subcellular location | Cytoplasm › cytosol. Cytoplasm › perinuclear region. Endosome membrane. Golgi apparatus › trans-Golgi network. Note: Colocalized with RAB11 along microtubules oriented toward lamellipodia By similarity. |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 |
| Sequence similarities | Contains 7 WD repeats. |
| Sequence caution | The sequence BAA92015.1 differs from that shown. Reason: Frameshift at position 792. The sequence BAC03799.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Endosome Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Repeat WD repeat |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell cytosolInferred from electronic annotation. Source: UniProtKB-SubCell endosome membraneInferred from electronic annotation. Source: UniProtKB-SubCell perinuclear region of cytoplasmInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5JSH3-1) 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: Q5JSH3-2) The sequence of this isoform differs from the canonical sequence as follows: 796-803: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q5JSH3-3) The sequence of this isoform differs from the canonical sequence as follows: 1-473: Missing. 474-477: DEGM → MVNV 884-913: IMKTDNTEVLLSADFTGAIKVFVNKRKNVS → AVAHACNPSTLGGRGRRIT | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||
| Chain | 2 – 913 | 912 | WD repeat-containing protein 44 | PRO_0000262769 | |||||
Regions | |||||||||
| Repeat | 509 – 548 | 40 | WD 1 | ||||||
| Repeat | 605 – 643 | 39 | WD 2 | ||||||
| Repeat | 645 – 685 | 41 | WD 3 | ||||||
| Repeat | 690 – 729 | 40 | WD 4 | ||||||
| Repeat | 740 – 779 | 40 | WD 5 | ||||||
| Repeat | 784 – 823 | 40 | WD 6 | ||||||
| Repeat | 876 – 913 | 38 | WD 7 | ||||||
| Region | 2 – 170 | 169 | Binding activity | ||||||
| Coiled coil | 119 – 184 | 66 | Potential | ||||||
| Compositional bias | 211 – 257 | 47 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.12 | ||||||
| Modified residue | 5 | 1 | Phosphoserine Ref.5 Ref.12 | ||||||
| Modified residue | 27 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 50 | 1 | Phosphoserine Ref.6 Ref.7 Ref.11 Ref.12 Ref.13 | ||||||
| Modified residue | 90 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 96 | 1 | Phosphoserine Ref.6 Ref.9 Ref.11 Ref.12 Ref.13 | ||||||
| Modified residue | 158 | 1 | Phosphothreonine Ref.12 | ||||||
| Modified residue | 161 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 162 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 163 | 1 | Phosphothreonine Ref.12 | ||||||
| Modified residue | 219 | 1 | Phosphothreonine Ref.11 | ||||||
| Modified residue | 262 | 1 | Phosphoserine Ref.5 Ref.7 Ref.11 | ||||||
| Modified residue | 271 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 344 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 349 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 403 | 1 | Phosphoserine Ref.5 Ref.11 Ref.12 Ref.13 | ||||||
| Modified residue | 470 | 1 | Phosphoserine Ref.10 Ref.11 | ||||||
| Modified residue | 471 | 1 | Phosphoserine Ref.10 Ref.11 | ||||||
| Modified residue | 472 | 1 | Phosphoserine Ref.10 Ref.11 | ||||||
| Modified residue | 561 | 1 | Phosphoserine Ref.8 Ref.10 Ref.12 | ||||||
| Modified residue | 563 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 565 | 1 | Phosphoserine Ref.8 Ref.12 | ||||||
| Modified residue | 568 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 783 | 1 | Phosphotyrosine Ref.7 | ||||||
| Modified residue | 799 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 800 | 1 | Phosphotyrosine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 473 | 473 | Missing in isoform 3. | VSP_021807 | |||||
| Alternative sequence | 474 – 477 | 4 | DEGM → MVNV in isoform 3. | VSP_021808 | |||||
| Alternative sequence | 796 – 803 | 8 | Missing in isoform 2. | VSP_021809 | |||||
| Alternative sequence | 884 – 913 | 30 | IMKTD…RKNVS → AVAHACNPSTLGGRGRRIT in isoform 3. | VSP_021810 | |||||
| Natural variant | 289 | 1 | A → T. Ref.2 Corresponds to variant rs17271416 [ dbSNP | Ensembl ]. | VAR_029538 | |||||
| Natural variant | 296 | 1 | T → A. Ref.4 Corresponds to variant rs17855531 [ dbSNP | Ensembl ]. | VAR_029539 | |||||
Experimental info | |||||||||
| Sequence conflict | 89 | 1 | L → P in CAD97788. Ref.2 | ||||||
| Sequence conflict | 96 | 1 | S → G in CAL38210. Ref.2 | ||||||
| Sequence conflict | 194 | 1 | S → P in AAH28697. Ref.4 | ||||||
| Sequence conflict | 206 | 1 | V → A in CAL38662. Ref.2 | ||||||
| Sequence conflict | 250 | 1 | P → L in CAL38662. Ref.2 | ||||||
| Sequence conflict | 331 | 1 | A → P in CAD98010. Ref.2 | ||||||
| Sequence conflict | 380 | 1 | G → D in CAL38210. Ref.2 | ||||||
| Sequence conflict | 473 | 1 | D → N in CAL38662. Ref.2 | ||||||
| Sequence conflict | 534 | 1 | V → A in CAD97788. Ref.2 | ||||||
| Sequence conflict | 539 | 1 | A → L in CAD97788. Ref.2 | ||||||
| Sequence conflict | 586 | 1 | E → G in CAD97788. Ref.2 | ||||||
| Sequence conflict | 613 | 1 | L → P in CAL38662. Ref.2 | ||||||
| Sequence conflict | 649 – 650 | 2 | Missing in BAA92015. Ref.1 | ||||||
| Sequence conflict | 740 | 1 | K → R in CAL38210. Ref.2 | ||||||
| Sequence conflict | 740 | 1 | K → R in CAL38662. Ref.2 | ||||||
| Sequence conflict | 858 | 1 | L → S in CAL38662. Ref.2 | ||||||
Sequences
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References
| [1] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 190-913 (ISOFORM 1). Tissue: Teratocarcinoma and Tongue. |
| [2] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT THR-289. Tissue: Colon endothelium and Endometrial tumor. |
| [3] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [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 1), VARIANT ALA-296. Tissue: Testis. |
| [5] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-5; SER-27; SER-262 AND SER-403, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [6] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50 AND SER-96, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [7] | "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50; SER-262; THR-271; TYR-783; THR-799 AND TYR-800, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [8] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-561; SER-565 AND SER-568, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [9] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-96, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-470; SER-471; SER-472 AND SER-561, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50; SER-96; THR-219; SER-262; SER-403; SER-470; SER-471 AND SER-472, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-5; SER-50; SER-90; SER-96; THR-158; SER-161; SER-162; THR-163; SER-403; SER-561; SER-563 AND SER-565, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [13] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50; SER-96 AND SER-403, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [14] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK001978 mRNA. Translation: BAA92015.1. Sequence problems. AK092077 mRNA. Translation: BAC03799.1. Different initiation. AK127556 mRNA. Translation: BAC87033.1. AM393332 mRNA. Translation: CAL38210.1. AM393787 mRNA. Translation: CAL38662.1. BX537578 mRNA. Translation: CAD97788.1. BX538087 mRNA. Translation: CAD98010.1. AL391474, AL391803, AL391830 Genomic DNA. Translation: CAI41402.1. AL391474, AL391803, AL391830 Genomic DNA. Translation: CAI41403.1. AL391803, AL391474, AL391830 Genomic DNA. Translation: CAI41482.1. AL391803, AL391474, AL391830 Genomic DNA. Translation: CAI41483.1. AL391830, AL391474, AL391803 Genomic DNA. Translation: CAI41512.1. AL391830, AL391474, AL391803 Genomic DNA. Translation: CAI41513.1. BC028697 mRNA. Translation: AAH28697.3. |
| IPI | IPI00444371. IPI00807730. IPI00872729. |
| RefSeq | NP_001171894.1. NM_001184965.1. NP_001171895.1. NM_001184966.1. NP_061918.3. NM_019045.4. |
| UniGene | Hs.98510. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1R5M based on UniProtKB P38262. |
| ProteinModelPortal | Q5JSH3. |
| SMR | Q5JSH3. Positions 494-814. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q5JSH3. 1 interaction. |
| STRING | Q5JSH3. |
PTM databases | |
| PhosphoSite | Q5JSH3. |
Polymorphism databases | |
| DMDM | 74762196. |
Proteomic databases | |
| PRIDE | Q5JSH3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000254029; ENSP00000254029; ENSG00000131725. |
| GeneID | 54521. |
| KEGG | hsa:54521. |
| NMPDR | fig|9606.3.peg.33281. |
| UCSC | uc004eqn.1. human. uc004eqo.1. human. |
Organism-specific databases | |
| CTD | 54521. |
| GeneCards | GC0XP117480. |
| H-InvDB | HIX0017006. |
| HGNC | HGNC:30512. WDR44. |
| HPA | HPA038084. |
| neXtProt | NX_Q5JSH3. |
| PharmGKB | PA128394668. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG17842. |
| GeneTree | ENSGT00530000063479. |
| HOVERGEN | HBG080376. |
| InParanoid | Q5JSH3. |
| OMA | DHTEVLL. |
| OrthoDB | EOG4K6G3H. |
| PhylomeDB | Q5JSH3. |
Gene expression databases | |
| ArrayExpress | Q5JSH3. |
| Bgee | Q5JSH3. |
| CleanEx | HS_WDR44. |
| Genevestigator | Q5JSH3. |
| GermOnline | ENSG00000131725. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR020472. G-protein_beta_WD-40_rep. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR017986. WD40_repeat_dom. [Graphical view] |
| Gene3D | G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 3 hits. |
| Pfam | PF00400. WD40. 4 hits. [Graphical view] |
| PRINTS | PR00320. GPROTEINBRPT. |
| SMART | SM00320. WD40. 6 hits. [Graphical view] |
| SUPFAM | SSF50978. WD40_like. 1 hit. |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 4 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 56920. |
Entry information
| Entry name | WDR44_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5JSH3 Secondary accession number(s): Q0JS52 Q9NUV4 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with