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    C11orf65 chromosome 11 open reading frame 65 [ Homo sapiens (human) ]

    Gene ID: 160140, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C11orf65provided by HGNC
    Official Full Name
    chromosome 11 open reading frame 65provided by HGNC
    Primary source
    HGNC:HGNC:28519
    See related
    Ensembl:ENSG00000166323 AllianceGenome:HGNC:28519
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFI
    Summary
    Predicted to be involved in negative regulation of mitochondrial fission and negative regulation of protein targeting to mitochondrion. Predicted to be located in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 4.7), lymph node (RPKM 0.9) and 11 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See C11orf65 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108308519..108469881, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108316028..108477364, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (108179246..108338256, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:107991956-107992494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5482 Neighboring gene MPRA-validated peak1447 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108021496-108021664 Neighboring gene acetyl-CoA acetyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108047982 Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108089151 Neighboring gene NANOG hESC enhancer GRCh37_chr11:108089784-108090285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5487 Neighboring gene MPRA-validated peak1449 silencer Neighboring gene MPRA-validated peak1450 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108140516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108147863-108148662 Neighboring gene ATM serine/threonine kinase Neighboring gene MPRA-validated peak1451 silencer Neighboring gene MPRA-validated peak1452 silencer Neighboring gene MPRA-validated peak1453 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108273376 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108294773 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108301322 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108309656 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108323261 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108333620 Neighboring gene Sharpr-MPRA regulatory region 13200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108337475-108338327 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108344264 Neighboring gene uncharacterized LOC124902749 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108353409-108353587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3878 Neighboring gene uncharacterized LOC112267909 Neighboring gene protein O-glucosyltransferase 3 Neighboring gene exophilin 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Does metformin work for everyone? A genome-wide association study for metformin response. Florez JC. Curr Diab Rep, 2011 Dec. PMID 21845381
    2. Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group, et al. Nat Genet, 2011 Feb. PMID 21186350, Free PMC Article
    3. A Genetic Interaction Map of Insulin Production Identifies Mfi as an Inhibitor of Mitochondrial Fission. Lee J, et al. Endocrinology, 2018 Sep 1. PMID 30059978, Free PMC Article
    4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    5. Genetic susceptibility to distinct bladder cancer subphenotypes. Guey LT, et al. Eur Urol, 2010 Feb. PMID 19692168, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.
    EBI GWAS Catalog
    Does metformin work for everyone? A genome-wide association study for metformin response.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33948

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of mitochondrial fission ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein targeting to mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein MFI
    Names
    mitochondrial fission factor interactor
    uncharacterized protein C11orf65

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054724.1 RefSeqGene

      Range
      7304..92078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330368.2 → NP_001317297.1  protein MFI isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK303096
      Consensus CDS
      CCDS81622.1
      UniProtKB/Swiss-Prot
      Q8NCR3
      Related
      ENSP00000433395.1, ENST00000525729.5

    2. NM_001351110.2 → NP_001338039.1  protein MFI isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP001925, AP005718

    3. NM_152587.5 → NP_689800.3  protein MFI isoform 1

      See identical proteins and their annotated locations for NP_689800.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP005718, BC029536, DB104722
      Consensus CDS
      CCDS8340.1
      UniProtKB/Swiss-Prot
      B4DZU4, Q6PCA8, Q8NCR3
      Related
      ENSP00000376799.1, ENST00000393084.6

    RNA

    1. NR_147053.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP005718

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      108308519..108469881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426461.1 → XP_047282417.1  protein MFI isoform X1

    2. XM_047426467.1 → XP_047282423.1  protein MFI isoform X7

    3. XM_047426463.1 → XP_047282419.1  protein MFI isoform X3

    4. XM_047426473.1 → XP_047282429.1  protein MFI isoform X14

    5. XM_047426462.1 → XP_047282418.1  protein MFI isoform X2

    6. XM_047426459.1 → XP_047282415.1  protein MFI isoform X1

    7. XM_047426458.1 → XP_047282414.1  protein MFI isoform X1

    8. XM_047426466.1 → XP_047282422.1  protein MFI isoform X6

    9. XM_047426460.1 → XP_047282416.1  protein MFI isoform X1

    10. XM_047426471.1 → XP_047282427.1  protein MFI isoform X12

    11. XM_047426470.1 → XP_047282426.1  protein MFI isoform X11

    12. XM_047426476.1 → XP_047282432.1  protein MFI isoform X17

    13. XM_047426477.1 → XP_047282433.1  protein MFI isoform X18

    14. XM_011542643.3 → XP_011540945.1  protein MFI isoform X16

    15. XM_047426469.1 → XP_047282425.1  protein MFI isoform X10

    16. XM_047426464.1 → XP_047282420.1  protein MFI isoform X4

    17. XM_047426478.1 → XP_047282434.1  protein MFI isoform X19

    18. XM_047426474.1 → XP_047282430.1  protein MFI isoform X15

    19. XM_011542641.3 → XP_011540943.1  protein MFI isoform X13

      See identical proteins and their annotated locations for XP_011540943.1

    20. XM_005271413.4 → XP_005271470.1  protein MFI isoform X9

    21. XM_005271412.4 → XP_005271469.1  protein MFI isoform X5

      See identical proteins and their annotated locations for XP_005271469.1

    22. XM_047426472.1 → XP_047282428.1  protein MFI isoform X13

    23. XM_047426465.1 → XP_047282421.1  protein MFI isoform X5

    24. XM_047426468.1 → XP_047282424.1  protein MFI isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      108316028..108477364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367842.1 → XP_054223817.1  protein MFI isoform X1

    2. XM_054367849.1 → XP_054223824.1  protein MFI isoform X7

    3. XM_054367844.1 → XP_054223819.1  protein MFI isoform X3

    4. XM_054367856.1 → XP_054223831.1  protein MFI isoform X14

    5. XM_054367843.1 → XP_054223818.1  protein MFI isoform X2

    6. XM_054367840.1 → XP_054223815.1  protein MFI isoform X1

    7. XM_054367839.1 → XP_054223814.1  protein MFI isoform X1

    8. XM_054367848.1 → XP_054223823.1  protein MFI isoform X6

    9. XM_054367841.1 → XP_054223816.1  protein MFI isoform X1

    10. XM_054367854.1 → XP_054223829.1  protein MFI isoform X12

    11. XM_054367853.1 → XP_054223828.1  protein MFI isoform X11

    12. XM_054367860.1 → XP_054223835.1  protein MFI isoform X17

    13. XM_054367861.1 → XP_054223836.1  protein MFI isoform X18

    14. XM_054367859.1 → XP_054223834.1  protein MFI isoform X16

    15. XM_054367852.1 → XP_054223827.1  protein MFI isoform X10

    16. XM_054367845.1 → XP_054223820.1  protein MFI isoform X4

    17. XM_054367862.1 → XP_054223837.1  protein MFI isoform X19

    18. XM_054367858.1 → XP_054223833.1  protein MFI isoform X15

    19. XM_054367857.1 → XP_054223832.1  protein MFI isoform X13

    20. XM_054367851.1 → XP_054223826.1  protein MFI isoform X9

    21. XM_054367847.1 → XP_054223822.1  protein MFI isoform X5

    22. XM_054367855.1 → XP_054223830.1  protein MFI isoform X13

    23. XM_054367846.1 → XP_054223821.1  protein MFI isoform X5

    24. XM_054367850.1 → XP_054223825.1  protein MFI isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCR3.1 GenPept UniProtKB/Swiss-Prot:Q8NCR3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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