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During a study on the endocytic system, a weak but specific association with SEPTIN4 in the regulation of endocytosis was found. Knockdown of SEPTIN4 caused decreased epidermal growth factor endocytosis as well as decreased transferrin endocytosis. In another experiment, knockdown of SEPTIN4 resulted
640:
Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I,
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There is positive differential mRNA and protein expression of SEPTIN4 in normal tissue of testis. Specifically, nucleolar expression of the gene product occurs in the seminiferous ducts of the testis. While SEPTIN4 is not currently associated with any diseases, several cases of carcinoids displayed
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characteristic of that DUF family There are three predicted regions of low complexity in SEPTIN4. These regions of low complexity may contain stress-response related terms which involve flexible binding for specific functions. There are three known polymorphic SNPs in SEPTIN4. There are 6 sites of
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is a protein that in humans is encoded by the gene SEPTIN4. The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons, and the predicted protein is 570 amino acids long. There are currently no experimental structures for
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The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons, and the predicted protein is 570 amino acids long. There are currently no experimental structures for the SEPTIN4 gene product with a sequence identity >90%.
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Although SEPTIN4 is predicted to be an intracellular protein, its exact location is unknown. There is some confidence that the subcellular locations of SEPTIN4 include the cytosol, the nucleus, and mitochondrion. C17orf47 contains a domain of unknown function DUF4655, which has a length
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strong SEPTIN4 expression via staining with HPA028424 antibody provided by Sigma-Aldrich. Polyphen predicts C17orf47 variants to be benign.
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545:"Transcript: C17orf47-001 (ENST00000321691) - Domains & features - Homo sapiens - Ensembl genome browser 83"
643:"Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation"
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479:"C17orf47 chromosome 17 open reading frame 47 [Homo sapiens (human)] - Gene - NCBI"
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National Center for
Biotechnology Information, U.S. National Library of Medicine
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Sixty-eight other organisms, mostly mammals, have orthologs with SPETIN4.
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617:"Expression of C17orf47 in cancer - Summary - The Human Protein Atlas"
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569:"C17orf47 Gene(Protein Coding) – Chromosome 17 Open Reading Frame 47"
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593:"Tissue expression of C17orf47 - Summary - The Human Protein Atlas"
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the SEPTIN4 gene product with a sequence identity >90%.
691:"GenomeRNAi - a database for RNAi phenotypes and reagents"
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supported by multiple records, according to
Phosphosite.
431:in decreased infection of cells by vaccinia virus.
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16:Protein-coding gene in the species Homo sapiens
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497:"Pfam: Family: DUF4655 (PF15548)"
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659:10.1016/j.ajhg.2013.11.008
641:Tiranti V (January 2014).
461:"Human PubMed Reference:"
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698:. Retrieved
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653:(1): 11–22.
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53:External IDs
721:Human genes
31:Identifiers
700:2016-02-29
626:2016-02-29
602:2016-02-29
578:2016-02-29
554:2016-02-29
530:2016-02-29
506:2016-02-29
447:References
422:Expression
58:HomoloGene
90:Orthologs
66:GeneCards
715:Category
677:24360804
414:Homology
390:Septin 4
365:Wikidata
70:C17orf47
45:C17orf47
22:C17orf47
668:3882905
198:UniProt
155:Ensembl
96:Species
38:Aliases
675:
665:
348:search
346:PubMed
212:Q8NEP4
126:284083
112:Entrez
62:134614
105:Mouse
100:Human
673:PMID
663:PMC
655:doi
354:n/a
339:n/a
334:n/a
319:n/a
274:n/a
230:n/a
187:n/a
144:n/a
74:OMA
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
