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FKTN fukutin [ Homo sapiens (human) ]

Gene ID: 2218, updated on 22-Sep-2022

Summary

Official Symbol
FKTNprovided by HGNC
Official Full Name
fukutinprovided by HGNC
Primary source
HGNC:HGNC:3622
See related
Ensembl:ENSG00000106692 MIM:607440; AllianceGenome:HGNC:3622
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; LGMDR13
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FKTN in Genome Data Viewer
Location:
9q31.2
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (105558130..105641118)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (117732799..117815798)
105.20220307 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 RALGAPA1 pseudogene 1 Neighboring gene FKTN antisense RNA 1 Neighboring gene GATA motif-containing MPRA enhancer 228 Neighboring gene TAL bHLH transcription factor 2

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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
enables phosphotransferase activity, for other substituted phosphate groups IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cis-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space TAS
Traceable Author Statement
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ribitol-5-phosphate transferase FKTN
Names
Fukuyama type congenital muscular dystrophy protein
patient fukutin
ribitol-5-phosphate transferase

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001079802.2NP_001073270.1  ribitol-5-phosphate transferase FKTN 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, Q9P295
    Related
    ENSP00000350687.6, ENST00000357998.10
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029
  2. NM_001198963.2NP_001185892.1  ribitol-5-phosphate transferase FKTN 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, ENST00000448551.6
    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  3. NM_001351496.2NP_001338425.1  ribitol-5-phosphate transferase FKTN 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
    UniProtKB/Swiss-Prot
    Q9P295
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029
  4. NM_001351497.2NP_001338426.1  ribitol-5-phosphate transferase FKTN 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_001351498.2NP_001338427.1  ribitol-5-phosphate transferase FKTN 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_001351499.2NP_001338428.1  ribitol-5-phosphate transferase FKTN 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_001351500.2NP_001338429.1  ribitol-5-phosphate transferase FKTN 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_001351501.2NP_001338430.1  ribitol-5-phosphate transferase FKTN 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_001351502.2NP_001338431.1  ribitol-5-phosphate transferase FKTN 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  ribitol-5-phosphate transferase FKTN 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, Q9P295
    Related
    ENSP00000223528.2, ENST00000223528.6
    Conserved Domains (2) summary
    cl01378
    Location:289327
    LicD; LicD family
    cl27593
    Location:230261
    UPF0029; Uncharacterized protein family UPF0029

RNA

  1. NR_147213.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL158070, AL601876, BC117699, DA917113, DB344919
    Related
    ENST00000675695.1
  2. NR_147214.2 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    105558130..105641118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422979.1XP_047278935.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  2. XM_047422974.1XP_047278930.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  3. XM_047422978.1XP_047278934.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  4. XM_047422971.1XP_047278927.1  ribitol-5-phosphate transferase FKTN isoform X2

  5. XM_047422986.1XP_047278942.1  ribitol-5-phosphate transferase FKTN isoform X7

  6. XM_047422975.1XP_047278931.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  7. XM_047422999.1XP_047278955.1  ribitol-5-phosphate transferase FKTN isoform X13

    UniProtKB/TrEMBL
    B4E2W4
  8. XM_047422985.1XP_047278941.1  ribitol-5-phosphate transferase FKTN isoform X7

  9. XM_011518391.3XP_011516693.1  ribitol-5-phosphate transferase FKTN isoform X13

    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
  10. XM_047422987.1XP_047278943.1  ribitol-5-phosphate transferase FKTN isoform X7

  11. XM_047422977.1XP_047278933.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  12. XM_047423001.1XP_047278957.1  ribitol-5-phosphate transferase FKTN isoform X13

    UniProtKB/TrEMBL
    B4E2W4
  13. XM_047422984.1XP_047278940.1  ribitol-5-phosphate transferase FKTN isoform X7

  14. XM_047422991.1XP_047278947.1  ribitol-5-phosphate transferase FKTN isoform X11

  15. XM_047422998.1XP_047278954.1  ribitol-5-phosphate transferase FKTN isoform X13

    UniProtKB/TrEMBL
    B4E2W4
  16. XM_047422972.1XP_047278928.1  ribitol-5-phosphate transferase FKTN isoform X2

  17. XM_047422990.1XP_047278946.1  ribitol-5-phosphate transferase FKTN isoform X10

  18. XM_047422993.1XP_047278949.1  ribitol-5-phosphate transferase FKTN isoform X11

  19. XM_006717014.3XP_006717077.1  ribitol-5-phosphate transferase FKTN isoform X13

    See identical proteins and their annotated locations for XP_006717077.1

    UniProtKB/TrEMBL
    B4E2W4
  20. XM_017014475.2XP_016869964.1  ribitol-5-phosphate transferase FKTN isoform X8

  21. XM_017014462.2XP_016869951.1  ribitol-5-phosphate transferase FKTN isoform X1

    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  22. XM_047422969.1XP_047278925.1  ribitol-5-phosphate transferase FKTN isoform X1

  23. XM_047422967.1XP_047278923.1  ribitol-5-phosphate transferase FKTN isoform X1

  24. XM_047422970.1XP_047278926.1  ribitol-5-phosphate transferase FKTN isoform X1

  25. XM_011518368.3XP_011516670.1  ribitol-5-phosphate transferase FKTN isoform X1

    See identical proteins and their annotated locations for XP_011516670.1

    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  26. XM_011518373.3XP_011516675.1  ribitol-5-phosphate transferase FKTN isoform X1

    See identical proteins and their annotated locations for XP_011516675.1

    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  27. XM_011518369.3XP_011516671.1  ribitol-5-phosphate transferase FKTN isoform X1

    See identical proteins and their annotated locations for XP_011516671.1

    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  28. XM_011518374.3XP_011516676.1  ribitol-5-phosphate transferase FKTN isoform X1

    See identical proteins and their annotated locations for XP_011516676.1

    Conserved Domains (1) summary
    cl01378
    Location:289327
    LicD; LicD family
  29. XM_047422988.1XP_047278944.1  ribitol-5-phosphate transferase FKTN isoform X9

    UniProtKB/TrEMBL
    A0A2R8Y768
  30. XM_047422989.1XP_047278945.1  ribitol-5-phosphate transferase FKTN isoform X9

    UniProtKB/TrEMBL
    A0A2R8Y768
    Related
    ENSP00000502153.1, ENST00000674563.1
  31. XM_047422996.1XP_047278952.1  ribitol-5-phosphate transferase FKTN isoform X12

  32. XM_047422994.1XP_047278950.1  ribitol-5-phosphate transferase FKTN isoform X12

    Related
    ENSP00000502113.1, ENST00000675668.1
  33. XM_047422995.1XP_047278951.1  ribitol-5-phosphate transferase FKTN isoform X12

  34. XM_047422997.1XP_047278953.1  ribitol-5-phosphate transferase FKTN isoform X12

  35. XM_047422976.1XP_047278932.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  36. XM_047422980.1XP_047278936.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  37. XM_047423002.1XP_047278958.1  ribitol-5-phosphate transferase FKTN isoform X13

    UniProtKB/TrEMBL
    B4E2W4
  38. XM_047422973.1XP_047278929.1  ribitol-5-phosphate transferase FKTN isoform X4

    UniProtKB/Swiss-Prot
    Q9P295
  39. XM_047423000.1XP_047278956.1  ribitol-5-phosphate transferase FKTN isoform X13

    UniProtKB/TrEMBL
    B4E2W4
  40. XM_047422968.1XP_047278924.1  ribitol-5-phosphate transferase FKTN isoform X1

  41. XM_047422992.1XP_047278948.1  ribitol-5-phosphate transferase FKTN isoform X11

  42. XM_011518379.3XP_011516681.1  ribitol-5-phosphate transferase FKTN isoform X3

    Conserved Domains (1) summary
    cl01378
    Location:266304
    LicD; LicD family
  43. XM_047422983.1XP_047278939.1  ribitol-5-phosphate transferase FKTN isoform X6

  44. XM_047422981.1XP_047278937.1  ribitol-5-phosphate transferase FKTN isoform X5

  45. XM_047422982.1XP_047278938.1  ribitol-5-phosphate transferase FKTN isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    117732799..117815798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)