Q6ZS81 (WDFY4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 65.
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- and FYVE domain-containing protein 4 | ||||
| Gene names |
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| 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 | 3184 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Sequence similarities | Contains 1 BEACH domain. Contains 5 WD repeats. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane Transmembrane helix WD repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6ZS81-1) 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: Q6ZS81-2) The sequence of this isoform differs from the canonical sequence as follows: 627-654: SLLRILVTPKGRAAFRVSSGFNGLLSLL → VISSPPLRLASLWICTKRSTFAQAFVFM 655-3184: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q6ZS81-3) The sequence of this isoform differs from the canonical sequence as follows: 1007-1042: SPRNLQPQRAALAPSFVEFDMSVEGYGCLFIPTLST → FPACWKPNIWKDNLAQKPVAGDAAQCNIFPPASSVL 1043-3184: Missing. | ||||||
| Isoform 4 (identifier: Q6ZS81-4) The sequence of this isoform differs from the canonical sequence as follows: 3111-3184: RPAGEEPPAQ...GRIFCWSADG → LQMGRKREAA...QPSPWPMGLL | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q6ZS81-5) The sequence of this isoform differs from the canonical sequence as follows: 2862-2920: DMYLFSLGSE...DFSCCLGSYG → GDSLAMHCLV...SRGVSSLGSV 2921-3184: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3184 | 3184 | WD repeat- and FYVE domain-containing protein 4 | PRO_0000251254 | |||||
Regions | |||||||||
| Transmembrane | 1627 – 1647 | 21 | Helical; Potential | ||||||
| Transmembrane | 2048 – 2068 | 21 | Helical; Potential | ||||||
| Domain | 2527 – 2821 | 295 | BEACH | ||||||
| Repeat | 2930 – 2970 | 41 | WD 1 | ||||||
| Repeat | 2980 – 3019 | 40 | WD 2 | ||||||
| Repeat | 3022 – 3061 | 40 | WD 3 | ||||||
| Repeat | 3071 – 3109 | 39 | WD 4 | ||||||
| Repeat | 3151 – 3184 | 34 | WD 5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 627 – 654 | 28 | SLLRI…LLSLL → VISSPPLRLASLWICTKRST FAQAFVFM in isoform 2. | VSP_020750 | |||||
| Alternative sequence | 655 – 3184 | 2530 | Missing in isoform 2. | VSP_020751 | |||||
| Alternative sequence | 1007 – 1042 | 36 | SPRNL…PTLST → FPACWKPNIWKDNLAQKPVA GDAAQCNIFPPASSVL in isoform 3. | VSP_035683 | |||||
| Alternative sequence | 1043 – 3184 | 2142 | Missing in isoform 3. | VSP_035684 | |||||
| Alternative sequence | 2862 – 2920 | 59 | DMYLF…LGSYG → GDSLAMHCLVSCPRVVPSVA GFLWRSSTTYLGKVLGTDFE WLHLQSQPDSRGVSSLGSV in isoform 5. | VSP_035685 | |||||
| Alternative sequence | 2921 – 3184 | 264 | Missing in isoform 5. | VSP_035686 | |||||
| Alternative sequence | 3111 – 3184 | 74 | RPAGE…WSADG → LQMGRKREAAEALAQQCQAE GGRGDWGLSSAYRRNPQGLL PHSSQGRASGNHSSAAQPSP WPMGLL in isoform 4. | VSP_035687 | |||||
| Natural variant | 214 | 1 | S → P. Ref.1 Corresponds to variant rs7072606 [ dbSNP | Ensembl ]. | VAR_027684 | |||||
| Natural variant | 944 | 1 | S → F. Corresponds to variant rs12242384 [ dbSNP | Ensembl ]. | VAR_027685 | |||||
| Natural variant | 2527 | 1 | S → N. Ref.3 Ref.4 Ref.5 Corresponds to variant rs2663046 [ dbSNP | Ensembl ]. | VAR_047261 | |||||
Experimental info | |||||||||
| Sequence conflict | 1337 | 1 | A → G in BAB84911. Ref.4 | ||||||
| Sequence conflict | 2595 | 1 | D → G in AAH47574. Ref.3 | ||||||
| Sequence conflict | 2683 | 1 | E → K in AAH47574. Ref.3 | ||||||
| Sequence conflict | 3118 | 1 | P → L in AAH47574. Ref.3 | ||||||
| Sequence conflict | 3118 | 1 | P → L in BAB13433. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' 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 2587-3184 (ISOFORM 5), VARIANT PRO-214. Tissue: Spleen. |
| [2] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2286-3184 (ISOFORM 1), VARIANT ASN-2527. Tissue: B-cell, Brain and Lymph. |
| [4] | "The nucleotide sequence of a long cDNA clone isolated from human spleen." Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O. Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1290-3184 (ISOFORM 4), VARIANT ASN-2527. Tissue: Spleen. |
| [5] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1915-3184 (ISOFORM 1), VARIANT ASN-2527. Tissue: Brain. |
| [6] | "Identification and characterization of ARHGAP24 and ARHGAP25 genes in silico." Katoh M., Katoh M. Int. J. Mol. Med. 14:333-338(2004) [PubMed: 15254788] [Abstract] Cited for: IDENTIFICATION. |
| [7] | "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 | AK024502 mRNA. Translation: BAB15792.1. AK127650 mRNA. Translation: BAC87073.1. AC035139 Genomic DNA. No translation available. AC060234 Genomic DNA. No translation available. AC068898 Genomic DNA. No translation available. BC015694 mRNA. Translation: AAH15694.2. BC034937 mRNA. Translation: AAH34937.1. BC047574 mRNA. Translation: AAH47574.1. AK074085 mRNA. Translation: BAB84911.1. AB046827 mRNA. Translation: BAB13433.1. |
| IPI | IPI00472883. IPI00550834. IPI00641442. IPI00887548. IPI00914858. |
| RefSeq | NP_065996.1. NM_020945.1. |
| UniGene | Hs.287379. |
3D structure databases | |
| ProteinModelPortal | Q6ZS81. |
| SMR | Q6ZS81. Positions 2389-2821, 2904-3183. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q6ZS81. 1 interaction. |
| STRING | Q6ZS81. |
PTM databases | |
| PhosphoSite | Q6ZS81. |
Polymorphism databases | |
| DMDM | 215274123. |
Proteomic databases | |
| PRIDE | Q6ZS81. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000325239; ENSP00000320563; ENSG00000128815. |
| GeneID | 57705. |
| KEGG | hsa:57705. |
| UCSC | uc001jgy.2. human. |
Organism-specific databases | |
| CTD | 57705. |
| GeneCards | GC10P049892. |
| HGNC | HGNC:29323. WDFY4. |
| HPA | HPA040634. |
| MIM | 613316. gene. |
| neXtProt | NX_Q6ZS81. |
| PharmGKB | PA134967634. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00600000084290. |
| OMA | IATPRVW. |
| PhylomeDB | Q6ZS81. |
Gene expression databases | |
| ArrayExpress | Q6ZS81. |
| Bgee | Q6ZS81. |
| CleanEx | HS_WDFY4. |
| Genevestigator | Q6ZS81. |
| GermOnline | ENSG00000128815. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR000409. BEACH_dom. IPR023362. PH-BEACH_dom. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view] |
| Gene3D | G3DSA:1.25.10.10. ARM-like. 2 hits. G3DSA:1.10.1540.10. Beige_BEACH. 1 hit. G3DSA:2.30.29.40. G3DSA:2.30.29.40. 1 hit. G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 2 hits. |
| Pfam | PF02138. Beach. 1 hit. PF00400. WD40. 2 hits. [Graphical view] |
| SMART | SM01026. Beach. 1 hit. SM00320. WD40. 5 hits. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. SSF81837. Beige_BEACH. 1 hit. SSF50978. WD40_like. 1 hit. |
| PROSITE | PS50197. BEACH. 1 hit. PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 2 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| SOURCE | Search... |
Entry information
| Entry name | WDFY4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ZS81 Secondary accession number(s): B9ZVP2 Q9HCG5 | ||||||||
| Entry history |
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| 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 10 Human chromosome 10: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with