Q14D04 (MELT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 55.
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: Ventricular zone-expressed PH domain-containing protein homolog 1 Alternative name(s): Protein melted | ||||
| 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 | 833 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | Cell membrane; Peripheral membrane protein; Cytoplasmic side By similarity. |
| Domain | The PH domain is required for membrane targeting By similarity. |
| Sequence similarities | Belongs to the MELT/VEPH family. Contains 1 PH domain. |
| Sequence caution | The sequence BAB14165.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB21783.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | plasma membrane Inferred 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: Q14D04-1) 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: Q14D04-2) The sequence of this isoform differs from the canonical sequence as follows: 626-670: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q14D04-3) The sequence of this isoform differs from the canonical sequence as follows: 178-213: NTMLLRVLPAVYEKQPQPINRHLTELLALMSQLEQP → MVRKLSLGTCFGRYLKVFSSSIYGLWEARPRVLEAN 214-833: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 833 | 833 | Ventricular zone-expressed PH domain-containing protein homolog 1 | PRO_0000297955 | |||||
Regions | |||||||||
| Domain | 716 – 819 | 104 | PH | ||||||
Amino acid modifications | |||||||||
| Modified residue | 783 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 178 – 213 | 36 | NTMLL…QLEQP → MVRKLSLGTCFGRYLKVFSS SIYGLWEARPRVLEAN in isoform 3. | VSP_027431 | |||||
| Alternative sequence | 214 – 833 | 620 | Missing in isoform 3. | VSP_027432 | |||||
| Alternative sequence | 626 – 670 | 45 | Missing in isoform 2. | VSP_027433 | |||||
| Natural variant | 208 | 1 | S → C. Corresponds to variant rs34559487 [ dbSNP | Ensembl ]. | VAR_034692 | |||||
| Natural variant | 263 | 1 | V → G. Ref.3 Corresponds to variant rs1378796 [ dbSNP | Ensembl ]. | VAR_034693 | |||||
| Natural variant | 271 | 1 | S → C. Corresponds to variant rs1378795 [ dbSNP | Ensembl ]. | VAR_034694 | |||||
| Natural variant | 319 | 1 | M → V. Corresponds to variant rs11923380 [ dbSNP | Ensembl ]. | VAR_034695 | |||||
| Natural variant | 329 | 1 | L → V. Corresponds to variant rs34823544 [ dbSNP | Ensembl ]. | VAR_034696 | |||||
| Natural variant | 365 | 1 | R → Q. Corresponds to variant rs16827563 [ dbSNP | Ensembl ]. | VAR_034697 | |||||
| Natural variant | 501 | 1 | S → L. Corresponds to variant rs59504298 [ dbSNP | Ensembl ]. | VAR_061683 | |||||
| Natural variant | 522 | 1 | S → P. Ref.5 Corresponds to variant rs11918974 [ dbSNP | Ensembl ]. | VAR_034698 | |||||
Experimental info | |||||||||
| Sequence conflict | 259 | 1 | I → M in BAB55243. Ref.2 | ||||||
| Sequence conflict | 808 | 1 | E → A in BAB55243. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed: 11214970] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "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 1). |
| [3] | "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] (ISOFORM 1), VARIANT GLY-263. Tissue: Brain. |
| [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. 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT PRO-522. Tissue: Brain, Kidney and Skin. |
| [6] | "Identification and characterization of Veph, a novel gene encoding a PH domain-containing protein expressed in the developing central nervous system of vertebrates." Muto E., Tabata Y., Taneda T., Aoki Y., Muto A., Arai K., Watanabe S. Biochimie 86:523-531(2004) [PubMed: 15388229] [Abstract] Cited for: IDENTIFICATION. |
| [7] | "Drosophila Melted modulates FOXO and TOR activity." Teleman A.A., Chen Y.-W., Cohen S.M. Dev. Cell 9:271-281(2005) [PubMed: 16054033] [Abstract] Cited for: IDENTIFICATION. |
| [8] | "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-783, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB051479 mRNA. Translation: BAB21783.1. Different initiation. AK022666 mRNA. Translation: BAB14165.1. Different initiation. AK027625 mRNA. Translation: BAB55243.1. AL713656 mRNA. Translation: CAD28465.2. CH471052 Genomic DNA. Translation: EAW78705.1. CH471052 Genomic DNA. Translation: EAW78706.1. CH471052 Genomic DNA. Translation: EAW78707.1. BC042159 mRNA. Translation: AAH42159.1. BC057999 mRNA. Translation: AAH57999.1. BC101660 mRNA. Translation: AAI01661.1. BC111017 mRNA. Translation: AAI11018.1. BC113555 mRNA. Translation: AAI13556.1. |
| IPI | IPI00447507. IPI00478192. IPI00855826. |
| RefSeq | NP_001161383.1. NM_001167911.1. NP_001161384.1. NM_001167912.1. NP_001161387.1. NM_001167915.1. NP_001161388.1. NM_001167916.1. NP_078897.2. NM_024621.2. |
| UniGene | Hs.658046. |
3D structure databases | |
| ProteinModelPortal | Q14D04. |
| SMR | Q14D04. Positions 713-822. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q14D04. |
PTM databases | |
| PhosphoSite | Q14D04. |
Polymorphism databases | |
| DMDM | 121946695. |
Proteomic databases | |
| PRIDE | Q14D04. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000362010; ENSP00000354919; ENSG00000197415. ENST00000392832; ENSP00000376577; ENSG00000197415. |
| GeneID | 79674. |
| KEGG | hsa:79674. |
| UCSC | uc003fbj.1. human. uc003fbm.2. human. uc010hvu.1. human. |
Organism-specific databases | |
| CTD | 79674. |
| GeneCards | GC03M156977. |
| H-InvDB | HIX0003801. |
| HGNC | HGNC:25735. VEPH1. |
| HPA | HPA026645. |
| MIM | 609594. gene. |
| neXtProt | NX_Q14D04. |
| PharmGKB | PA134952229. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG06055. |
| GeneTree | ENSGT00390000018660. |
| HOVERGEN | HBG097059. |
| InParanoid | Q14D04. |
| OMA | IPFLIGH. |
| OrthoDB | EOG40K7Z5. |
| PhylomeDB | Q14D04. |
Gene expression databases | |
| ArrayExpress | Q14D04. |
| Bgee | Q14D04. |
| Genevestigator | Q14D04. |
Family and domain databases | |
| InterPro | IPR011993. PH_type. IPR001849. Pleckstrin_homology. [Graphical view] |
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. |
| Pfam | PF00169. PH. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. [Graphical view] |
| PROSITE | PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 68910. |
| SOURCE | Search... |
Entry information
| Entry name | MELT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q14D04 Secondary accession number(s): D3DNL0 Q9H9Q7 | ||||||||
| 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 3 Human chromosome 3: 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