Description: Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 1, mRNA. RefSeq Summary (NM_014733): This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Transcript (Including UTRs) Position: hg19 chr5:79,703,838-79,775,498 Size: 71,661 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr5:79,729,967-79,773,196 Size: 43,230 Coding Exon Count: 17
ID:ZFY16_HUMAN DESCRIPTION: RecName: Full=Zinc finger FYVE domain-containing protein 16; AltName: Full=Endofin; AltName: Full=Endosome-associated FYVE domain protein; FUNCTION: May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes. SUBUNIT: Interacts with the C-terminus of TOM1. Does not interact with TOM1L1 or TOM1L2. INTERACTION: O60784:TOM1; NbExp=5; IntAct=EBI-298055, EBI-74634; SUBCELLULAR LOCATION: Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Localized to early endosomes. Membrane-associated, probably via its association with phosphatidylinositol 3-phosphate (PI3P). TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, placenta and lung. Expressed at intermediate level in heart, brain, skeletal muscle, spleen and liver. Weakly expressed in colon, thymus and peripheral blood lymphocytes. DOMAIN: The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and mediates the association with PI3P. SIMILARITY: Contains 1 FYVE-type zinc finger. SEQUENCE CAUTION: Sequence=BAA20764.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ZFYVE16 CDC HuGE Published Literature: ZFYVE16 Positive Disease Associations: Body Weights and Measures Related Studies:
Body Weights and Measures Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7Z3T8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0005545 1-phosphatidylinositol binding GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding GO:0008565 protein transporter activity GO:0046872 metal ion binding
LP895515 - Sequence 379 from Patent EP3253886. BC032227 - Homo sapiens zinc finger, FYVE domain containing 16, mRNA (cDNA clone IMAGE:5204515), with apparent retained intron. BX537424 - Homo sapiens mRNA; cDNA DKFZp686K236 (from clone DKFZp686K236); complete cds. CR933621 - Homo sapiens mRNA; cDNA DKFZp686E13162 (from clone DKFZp686E13162). AB002303 - Homo sapiens mRNA for KIAA0305 gene. BC030808 - Homo sapiens zinc finger, FYVE domain containing 16, mRNA (cDNA clone MGC:22300 IMAGE:4701661), complete cds. JD404787 - Sequence 385811 from Patent EP1572962. CU689306 - Synthetic construct Homo sapiens gateway clone IMAGE:100020577 5' read ZFYVE16 mRNA. CU689018 - Synthetic construct Homo sapiens gateway clone IMAGE:100021997 5' read ZFYVE16 mRNA. KJ904632 - Synthetic construct Homo sapiens clone ccsbBroadEn_14026 ZFYVE16 gene, encodes complete protein. AB384456 - Synthetic construct DNA, clone: pF1KA0305, Homo sapiens ZFYVE16 gene for zinc finger FYVE domain-containing protein 16, complete cds, without stop codon, in Flexi system. AF434817 - Homo sapiens endofin mRNA, complete cds. AL833087 - Homo sapiens mRNA; cDNA DKFZp451M1519 (from clone DKFZp451M1519). AK127003 - Homo sapiens cDNA FLJ45058 fis, clone BRAWH3023172, highly similar to Zinc finger FYVE domain-containing protein 16. BX649172 - Homo sapiens mRNA; cDNA DKFZp686G0694 (from clone DKFZp686G0694). AK090896 - Homo sapiens cDNA FLJ33577 fis, clone BRAMY2011480. JD541378 - Sequence 522402 from Patent EP1572962. JD166948 - Sequence 147972 from Patent EP1572962. JD053194 - Sequence 34218 from Patent EP1572962. JD312610 - Sequence 293634 from Patent EP1572962. JD276926 - Sequence 257950 from Patent EP1572962. JD299049 - Sequence 280073 from Patent EP1572962. JD539543 - Sequence 520567 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04144 - Endocytosis hsa04350 - TGF-beta signaling pathway
Reactome (by CSHL, EBI, and GO)
Protein Q7Z3T8 (Reactome details) participates in the following event(s):
R-HSA-201648 An anchoring protein, Endofin, recruits R-Smad1/5/8 R-HSA-201453 Phospho-R-Smad1/5/8 dissociates from the receptor complex R-HSA-201476 Activated type I receptor phosphorylates R-Smad1/5/8 directly R-HSA-201451 Signaling by BMP R-HSA-9006936 Signaling by TGF-beta family members R-HSA-162582 Signal Transduction