A2RRH5 (WDR27_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 40.
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 27 | ||
| 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 | 827 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Sequence similarities | Contains 10 WD repeats. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat WD repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: A2RRH5-1) 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: A2RRH5-2) The sequence of this isoform differs from the canonical sequence as follows: 111-207: Missing. | ||||||
| Isoform 3 (identifier: A2RRH5-3) The sequence of this isoform differs from the canonical sequence as follows: 111-112: GL → GK 113-827: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: A2RRH5-4) The sequence of this isoform differs from the canonical sequence as follows: 152-152: E → EQRFSVTYIERPDVNNRHKVPPPTFLHTFSQ 812-827: LATATLDGKLQLFLAE → MESCSVAHAGVQWHDLGSLQPPPSRFKQFFCLSFPSSWDYSLPQLPWMVNSSSF | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 827 | 827 | WD repeat-containing protein 27 | PRO_0000306831 | |||||
Regions | |||||||||
| Repeat | 26 – 65 | 40 | WD 1 | ||||||
| Repeat | 69 – 109 | 41 | WD 2 | ||||||
| Repeat | 162 – 202 | 41 | WD 3 | ||||||
| Repeat | 206 – 245 | 40 | WD 4 | ||||||
| Repeat | 511 – 550 | 40 | WD 5 | ||||||
| Repeat | 553 – 592 | 40 | WD 6 | ||||||
| Repeat | 655 – 695 | 41 | WD 7 | ||||||
| Repeat | 699 – 748 | 50 | WD 8 | ||||||
| Repeat | 753 – 792 | 40 | WD 9 | ||||||
| Repeat | 795 – 827 | 33 | WD 10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 111 – 207 | 97 | Missing in isoform 2. | VSP_028510 | |||||
| Alternative sequence | 111 – 112 | 2 | GL → GK in isoform 3. | VSP_028511 | |||||
| Alternative sequence | 113 – 827 | 715 | Missing in isoform 3. | VSP_028512 | |||||
| Alternative sequence | 152 | 1 | E → EQRFSVTYIERPDVNNRHKV PPPTFLHTFSQ in isoform 4. | VSP_040796 | |||||
| Alternative sequence | 812 – 827 | 16 | LATAT…LFLAE → MESCSVAHAGVQWHDLGSLQ PPPSRFKQFFCLSFPSSWDY SLPQLPWMVNSSSF in isoform 4. | VSP_040797 | |||||
| Natural variant | 133 | 1 | L → P. Ref.2 Corresponds to variant rs4236176 [ dbSNP | Ensembl ]. | VAR_035317 | |||||
| Natural variant | 393 | 1 | V → L. Corresponds to variant rs35895089 [ dbSNP | Ensembl ]. | VAR_035318 | |||||
| Natural variant | 437 | 1 | R → H. Ref.2 Corresponds to variant rs3800544 [ dbSNP | Ensembl ]. | VAR_035319 | |||||
| Natural variant | 470 | 1 | P → L. Corresponds to variant rs34313252 [ dbSNP | Ensembl ]. | VAR_035320 | |||||
| Natural variant | 697 | 1 | A → V. Corresponds to variant rs9396946 [ dbSNP | Ensembl ]. | VAR_035321 | |||||
Experimental info | |||||||||
| Sequence conflict | 153 | 1 | T → A in BC040606. Ref.2 | ||||||
| Sequence conflict | 512 | 1 | T → S in AAI31634. Ref.2 | ||||||
| Sequence conflict | 512 | 1 | T → S in AAI42983. Ref.2 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||
References
| [1] | "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. Beck S.Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "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] (ISOFORMS 2; 3 AND 4), VARIANTS PRO-133 AND HIS-437. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL031315 Genomic DNA. No translation available. AL135910 Genomic DNA. No translation available. AL441927 Genomic DNA. No translation available. AL513547 Genomic DNA. Translation: CAI12313.1. BC040606 mRNA. No translation available. BC131633 mRNA. Translation: AAI31634.1. BC142982 mRNA. Translation: AAI42983.1. |
| IPI | IPI00867634. IPI00902979. IPI00908536. IPI01008842. |
| RefSeq | NP_001189479.1. NM_001202550.1. |
| UniGene | Hs.131903. |
3D structure databases | |
| ProteinModelPortal | A2RRH5. |
| SMR | A2RRH5. Positions 116-242, 517-584, 673-825. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | A2RRH5. |
Proteomic databases | |
| PRIDE | A2RRH5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000401031; ENSP00000383811; ENSG00000184465. |
| GeneID | 253769. |
| KEGG | hsa:253769. |
| UCSC | uc003qwy.2. human. uc010kkw.1. human. uc010kkx.1. human. |
Organism-specific databases | |
| CTD | 253769. |
| GeneCards | GC06M169857. |
| HGNC | HGNC:21248. WDR27. |
| HPA | HPA037497. |
| neXtProt | NX_A2RRH5. |
| PharmGKB | PA134875091. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG18973. |
| HOVERGEN | HBG108668. |
Gene expression databases | |
| CleanEx | HS_WDR27. |
| Genevestigator | A2RRH5. |
Family and domain databases | |
| InterPro | 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. 2 hits. |
| Pfam | PF00400. WD40. 4 hits. [Graphical view] |
| SMART | SM00320. WD40. 10 hits. [Graphical view] |
| SUPFAM | SSF50978. WD40_like. 1 hit. |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 3 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 92163. |
Entry information
| Entry name | WDR27_HUMAN | ||||||||
| Accession | Primary (citable) accession number: A2RRH5 Secondary accession number(s): A5PLM8, Q5T066 | ||||||||
| 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 6 Human chromosome 6: 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