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FKTN fukutin [ Homo sapiens (human) ]

Gene ID: 2218, updated on 5-Aug-2018

Summary

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]
Expression
Ubiquitous expression in thyroid (RPKM 2.6), brain (RPKM 2.5) and 25 other tissues See more
Orthologs

Genomic context

See FKTN in Genome Data Viewer
Location:
9q31.2
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC112268038 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 GATA motif-containing MPRA enhancer 228 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126857, MGC134944, MGC134945, MGC138243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 glycosylation IMP
Inferred from Mutant Phenotype
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 
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 Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
fukutin
Names
Fukuyama type congenital muscular dystrophy protein
patient fukutin

NCBI Reference Sequences (RefSeq)

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, 2 and 4 encode the same isoform (a).
    Source sequence(s)
    AL158070, AL601876, BC117699, DA917113
    Consensus CDS
    CCDS6766.1
    UniProtKB/Swiss-Prot
    O75072
    Related
    ENSP00000473540.1, OTTHUMP00000021843, ENST00000602661.5, OTTHUMT00000053508
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029
  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
    ENSP00000399140.2, OTTHUMP00000272188, ENST00000448551.6, OTTHUMT00000467578
    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  3. NM_001351496.1NP_001338425.1  fukutin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (a).
    Source sequence(s)
    AL158070, AL601876, AW014603, BC117699, BX508406, DA917113
    Consensus CDS
    CCDS6766.1
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029
  4. NM_001351497.1NP_001338426.1  fukutin isoform c

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, AW014603, BC117699, BX508406, DA917113
    Conserved Domains (2) summary
    cl01378
    Location:266304
    LicD; LicD family
    cl27593
    Location:207238
    UPF0029; Uncharacterized protein family UPF0029
  5. NM_001351498.1NP_001338427.1  fukutin isoform d

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, AW014603, BC117699
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029
  6. NM_001351499.1NP_001338428.1  fukutin isoform e

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, AW014603, BC117699, BP354825, BX508406, DA917113
    Conserved Domains (2) summary
    cl01378
    Location:157195
    LicD; LicD family
    cl27593
    Location:98129
    UPF0029; Uncharacterized protein family UPF0029
  7. NM_001351500.1NP_001338429.1  fukutin isoform e

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, AW014603, BC117699, BP354825, DA917113
    Conserved Domains (2) summary
    cl01378
    Location:157195
    LicD; LicD family
    cl27593
    Location:98129
    UPF0029; Uncharacterized protein family UPF0029
  8. NM_001351501.1NP_001338430.1  fukutin isoform e

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, AW014603, BC117699, BP354825, DA917113, DW425749
    Conserved Domains (2) summary
    cl01378
    Location:157195
    LicD; LicD family
    cl27593
    Location:98129
    UPF0029; Uncharacterized protein family UPF0029
  9. NM_001351502.1NP_001338431.1  fukutin isoform e

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, AW014603, BC117699, BP354825, BX508406, DA917113
    Conserved Domains (2) summary
    cl01378
    Location:157195
    LicD; LicD family
    cl27593
    Location:98129
    UPF0029; Uncharacterized protein family UPF0029
  10. 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, 2 and 4 encode the same isoform (a).
    Source sequence(s)
    AL158070, AL601876, BC117699
    Consensus CDS
    CCDS6766.1
    UniProtKB/Swiss-Prot
    O75072
    Related
    ENSP00000223528.2, OTTHUMP00000021841, ENST00000223528.6, OTTHUMT00000053505
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029

RNA

  1. NR_147213.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, BC117699, DA917113, DB344919
  2. NR_147214.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, BC117699, DB344919, DC419237
    Related
    ENST00000602526.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 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_011518391.2XP_011516693.1  fukutin isoform X11

    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
  5. XM_011518378.2XP_011516680.1  fukutin isoform X2

    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  6. XM_011518387.2XP_011516689.1  fukutin isoform X9

  7. XM_017014472.2XP_016869961.1  fukutin isoform X8

    Conserved Domains (1) summary
    cl01378
    Location:227265
    LicD; LicD family
  8. 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
  9. 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
  10. XM_017014475.1XP_016869964.1  fukutin isoform X9

  11. XM_006717014.2XP_006717077.1  fukutin isoform X11

    See identical proteins and their annotated locations for XP_006717077.1

    UniProtKB/TrEMBL
    B4E2W4
  12. XM_011518381.3XP_011516683.1  fukutin isoform X8

    See identical proteins and their annotated locations for XP_011516683.1

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

    See identical proteins and their annotated locations for XP_011516676.1

    Related
    ENSP00000495864.1, ENST00000642177.1
    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  14. XM_017014462.1XP_016869951.1  fukutin isoform X1

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

  16. 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
  17. XM_017014467.1XP_016869956.1  fukutin isoform X5

    UniProtKB/Swiss-Prot
    O75072
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029
  18. XM_017014468.1XP_016869957.1  fukutin isoform X5

    UniProtKB/Swiss-Prot
    O75072
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029
  19. 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
  20. 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
  21. XM_017014463.1XP_016869952.1  fukutin isoform X1

    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  22. 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
  23. 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
  24. XM_011518379.2XP_011516681.1  fukutin isoform X4

    Conserved Domains (1) summary
    cl01378
    Location:266304
    LicD; LicD family
  25. XM_017014473.2XP_016869962.1  fukutin isoform X8

    Conserved Domains (1) summary
    cl01378
    Location:227265
    LicD; LicD family
  26. XM_011518390.2XP_011516692.1  fukutin isoform X10

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

RNA

  1. XR_001746242.2 RNA Sequence

  2. XR_001746244.2 RNA Sequence

  3. XR_001746243.2 RNA Sequence

  4. XR_002956770.1 RNA Sequence

  5. XR_001746245.1 RNA Sequence

  6. XR_001746248.1 RNA Sequence

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