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    FKTN fukutin [ Homo sapiens (human) ]

    Gene ID: 2218, updated on 20-Feb-2017
    Official Symbol
    FKTNprovided by HGNC
    Official Full Name
    fukutinprovided by HGNC
    Primary source
    HGNC:HGNC:3622
    See related
    Ensembl:ENSG00000106692 MIM:607440; Vega:OTTHUMG00000020425
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4
    Summary
    The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
    Orthologs
    Location:
    9q31.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (105558117..105655950)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (108320411..108403399)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 1 Neighboring gene fibronectin type III and SPRY domain containing 1 like Neighboring gene Ral GTPase activating protein catalytic alpha subunit 1 pseudogene 1 Neighboring gene uncharacterized LOC105376199 Neighboring gene uncharacterized LOC107987107 Neighboring gene serine and arginine rich splicing factor 10 pseudogene Neighboring gene TAL bHLH transcription factor 2 Neighboring gene transmembrane protein 38B

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126857, MGC134944, MGC134945, MGC138243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein glycosylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    fukutin
    Names
    Fukuyama type congenital muscular dystrophy protein
    patient fukutin

    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_008754.1 RefSeqGene

      Range
      5001..87989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_434

    mRNA and Protein(s)

    1. NM_001079802.1NP_001073270.1  fukutin isoform a

      See identical proteins and their annotated locations for NP_001073270.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (a). Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL158070, AL601876, BC117699, DA917113
      Consensus CDS
      CCDS6766.1
      UniProtKB/Swiss-Prot
      O75072
      Related
      ENSP00000473540, OTTHUMP00000021843, ENST00000602661, OTTHUMT00000053508
      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    2. NM_001198963.1NP_001185892.1  fukutin isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AK300840, AL158070, AL601876, AW014603, BC117699
      UniProtKB/Swiss-Prot
      O75072
      Related
      ENSP00000399140, OTTHUMP00000272188, ENST00000448551, OTTHUMT00000467578
      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    3. NM_006731.2NP_006722.2  fukutin isoform a

      See identical proteins and their annotated locations for NP_006722.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL158070, AL601876, BC117699
      Consensus CDS
      CCDS6766.1
      UniProtKB/Swiss-Prot
      O75072
      Related
      ENSP00000223528, OTTHUMP00000021841, ENST00000223528, OTTHUMT00000053505
      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      105558117..105655950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014469.1XP_016869958.1  fukutin isoform X6

    2. XM_017014464.1XP_016869953.1  fukutin isoform X3

    3. XM_017014470.1XP_016869959.1  fukutin isoform X7

    4. XM_017014471.1XP_016869960.1  fukutin isoform X8

    5. XM_017014476.1XP_016869965.1  fukutin isoform X14

    6. XM_017014466.1XP_016869955.1  fukutin isoform X5

      UniProtKB/Swiss-Prot
      O75072
      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    7. XM_011518391.2XP_011516693.1  fukutin isoform X15

      See identical proteins and their annotated locations for XP_011516693.1

      UniProtKB/TrEMBL
      B4E2W4
      Conserved Domains (1) summary
      PRK11568
      Location:230260
      PRK11568; hypothetical protein; Provisional
    8. XM_017014477.1XP_016869966.1  fukutin isoform X14

    9. XM_011518378.2XP_011516680.1  fukutin isoform X2

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    10. XM_011518387.2XP_011516689.1  fukutin isoform X11

    11. XM_017014472.1XP_016869961.1  fukutin isoform X9

      Conserved Domains (1) summary
      cl01378
      Location:227265
      LicD; LicD family
    12. XM_011518368.2XP_011516670.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516670.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    13. XM_011518373.2XP_011516675.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516675.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    14. XM_011518389.2XP_011516691.1  fukutin isoform X12

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    15. XM_017014475.1XP_016869964.1  fukutin isoform X11

    16. XM_017014479.1XP_016869968.1  fukutin isoform X14

    17. XM_006717014.2XP_006717077.1  fukutin isoform X15

      See identical proteins and their annotated locations for XP_006717077.1

      UniProtKB/TrEMBL
      B4E2W4
      Conserved Domains (1) summary
      PRK11568
      Location:230260
      PRK11568; hypothetical protein; Provisional
    18. XM_011518381.2XP_011516683.1  fukutin isoform X9

      See identical proteins and their annotated locations for XP_011516683.1

      Conserved Domains (1) summary
      cl01378
      Location:227265
      LicD; LicD family
    19. XM_011518374.2XP_011516676.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516676.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    20. XM_017014474.1XP_016869963.1  fukutin isoform X10

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    21. XM_017014462.1XP_016869951.1  fukutin isoform X1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    22. XM_017014465.1XP_016869954.1  fukutin isoform X3

    23. XM_011518369.2XP_011516671.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516671.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    24. XM_017014478.1XP_016869967.1  fukutin isoform X14

    25. XM_017014467.1XP_016869956.1  fukutin isoform X5

      UniProtKB/Swiss-Prot
      O75072
      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    26. XM_017014468.1XP_016869957.1  fukutin isoform X5

      UniProtKB/Swiss-Prot
      O75072
      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    27. XM_011518371.2XP_011516673.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516673.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    28. XM_011518376.2XP_011516678.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516678.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    29. XM_017014463.1XP_016869952.1  fukutin isoform X1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    30. XM_011518370.2XP_011516672.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516672.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    31. XM_011518375.2XP_011516677.1  fukutin isoform X1

      See identical proteins and their annotated locations for XP_011516677.1

      Conserved Domains (1) summary
      cl01378
      Location:289327
      LicD; LicD family
    32. XM_011518379.2XP_011516681.1  fukutin isoform X4

      Conserved Domains (1) summary
      cl01378
      Location:266304
      LicD; LicD family
    33. XM_017014473.1XP_016869962.1  fukutin isoform X9

      Conserved Domains (1) summary
      cl01378
      Location:227265
      LicD; LicD family
    34. XM_011518390.2XP_011516692.1  fukutin isoform X13

      Conserved Domains (1) summary
      cl01378
      Location:157195
      LicD; LicD family

    RNA

    1. XR_001746242.1 RNA Sequence

    2. XR_001746244.1 RNA Sequence

    3. XR_001746243.1 RNA Sequence

    4. XR_001746246.1 RNA Sequence

      Related
      ENST00000602526, OTTHUMT00000467579
    5. XR_001746245.1 RNA Sequence

    6. XR_001746247.1 RNA Sequence

    7. XR_001746248.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      108467406..108550392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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