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    KTN1 kinectin 1 [ Homo sapiens (human) ]

    Gene ID: 3895, updated on 7-Apr-2024

    Summary

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    Official Symbol
    KTN1provided by HGNC
    Official Full Name
    kinectin 1provided by HGNC
    Primary source
    HGNC:HGNC:6467
    See related
    Ensembl:ENSG00000126777 MIM:600381; AllianceGenome:HGNC:6467
    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
    CG1; KNT; MU-RMS-40.19
    Summary
    This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]
    Expression
    Ubiquitous expression in testis (RPKM 35.7), thyroid (RPKM 26.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q22.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (55580207..55684584)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (49785926..49890300)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (56046925..56151302)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene abl interactor 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5786 Neighboring gene Sharpr-MPRA regulatory region 13870 Neighboring gene KTN1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:56166391-56166991 Neighboring gene uncharacterized LOC124903320 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:56219189-56219804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:56219806-56220357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:56220358-56220908 Neighboring gene ribosomal protein L13a pseudogene 3

    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
    • 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. Associations of attention distractibility with attention deficit and with variation in the KTN1 gene. Tuvi I, et al. Neurosci Lett, 2020 Nov 1. PMID 32956741
    2. KTN1 variants and risk for attention deficit hyperactivity disorder. Luo X, et al. Am J Med Genet B Neuropsychiatr Genet, 2020 Jun. PMID 32190980, Free PMC Article
    3. Significant, replicable, and functional associations between KTN1 variants and alcohol and drug codependence. Luo X, et al. Addict Biol, 2021 Mar. PMID 32115811, Free PMC Article
    4. Kinectin-dependent ER transport supports the focal complex maturation required for chemotaxis in shallow gradients. Ng IC, et al. J Cell Sci, 2016 Jul 1. PMID 27221621
    5. Kinectin-dependent assembly of translation elongation factor-1 complex on endoplasmic reticulum regulates protein synthesis. Ong LL, et al. J Biol Chem, 2006 Nov 3. PMID 16950774

    See all (144) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A genetic and transcriptomic assessment of the KTN1 gene in Parkinson's disease risk.
      Title: A genetic and transcriptomic assessment of the KTN1 gene in Parkinson's disease risk.
    2. Significant, replicable, and functional associations between KTN1 variants and alcohol and drug codependence.
      Title: Significant, replicable, and functional associations between KTN1 variants and alcohol and drug codependence.
    3. Kinectin 1 promotes the growth of triple-negative breast cancer via directly co-activating NF-kappaB/p65 and enhancing its transcriptional activity.
      Title: Kinectin 1 promotes the growth of triple-negative breast cancer via directly co-activating NF-kappaB/p65 and enhancing its transcriptional activity.
    4. Human microRNA-182-5p and kinectin 1: Potential biomarkers for prognosis in oral squamous cell carcinoma.
      Title: Human microRNA-182-5p and kinectin 1: Potential biomarkers for prognosis in oral squamous cell carcinoma.
    5. Associations of attention distractibility with attention deficit and with variation in the KTN1 gene.
      Title: Associations of attention distractibility with attention deficit and with variation in the KTN1 gene.
    6. Rab18 regulates focal adhesion dynamics by interacting with kinectin-1 at the endoplasmic reticulum.
      Title: Rab18 regulates focal adhesion dynamics by interacting with kinectin-1 at the endoplasmic reticulum.
    7. KTN1 variants and risk for attention deficit hyperactivity disorder.
      Title: KTN1 variants and risk for attention deficit hyperactivity disorder.
    8. Erbb2 interacting protein (ERBB2IP), a known target of miR-23c, was positively regulated by KTN1-AS1.
      Title: LncRNA KTN1-AS1 promotes tumor growth of hepatocellular carcinoma by targeting miR-23c/ERBB2IP axis.
    9. Significant association between rs12895072 and rs12434554 within the KTN1 gene and accelerated decline in Cognition performance in Chinese elderly male Gout population.
      Title: Potential contribution of the neurodegenerative disorders risk loci to cognitive performance in an elderly male gout population.
    10. Our results show that kinectin-dependent ER distribution can be localized by chemoattractants and provide a mechanism for biased protrusion choices during chemotaxis in shallow gradients of chemoattractants.
      Title: Kinectin-dependent ER transport supports the focal complex maturation required for chemotaxis in shallow gradients.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0004, MGC133337

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables cadherin binding HDA PubMed 
    enables kinesin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule-based movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kinectin
    Names
    CG-1 antigen
    kinesin receptor

    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.

    mRNA and Protein(s)

    1. NM_001079521.2 → NP_001072989.1  kinectin isoform a

      See identical proteins and their annotated locations for NP_001072989.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (a).
      Source sequence(s)
      AL138499, AY536375, BQ014936, DA769269, Z22551
      Consensus CDS
      CCDS41957.1
      UniProtKB/Swiss-Prot
      B4DZ88, Q13999, Q14707, Q15387, Q17RZ5, Q5GGW3, Q86UP2, Q86W57
      Related
      ENSP00000378725.3, ENST00000395314.8
      Conserved Domains (3) summary
      COG1196
      Location:667 → 1352
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12128
      Location:319 → 991
      DUF3584; Protein of unknown function (DUF3584)
      cl23763
      Location:1013 → 1202
      MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain

    2. NM_001079522.2 → NP_001072990.1  kinectin isoform b

      See identical proteins and their annotated locations for NP_001072990.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region compared to variant 2. This variant encodes isoform b, which is shorter than isoform a.
      Source sequence(s)
      BC117132, BQ014936, DA452468, DA769269
      Consensus CDS
      CCDS41959.1
      UniProtKB/Swiss-Prot
      Q86UP2
      Related
      ENSP00000378722.1, ENST00000395311.5
      Conserved Domains (2) summary
      TIGR02168
      Location:458 → 1246
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl23763
      Location:990 → 1179
      MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain

    3. NM_001271014.2 → NP_001257943.1  kinectin isoform d

      See identical proteins and their annotated locations for NP_001257943.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region compared to variant 2. This variant encodes isoform d, which is shorter than isoform a.
      Source sequence(s)
      AK302797, BC143720, BM981127, DA769269
      UniProtKB/Swiss-Prot
      Q86UP2
      Conserved Domains (2) summary
      COG1196
      Location:326 → 1084
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl23763
      Location:1013 → 1202
      MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain

    4. NM_001402682.1 → NP_001389611.1  kinectin isoform a

      Status: REVIEWED

      Source sequence(s)
      AL138499
      Consensus CDS
      CCDS41957.1
      UniProtKB/Swiss-Prot
      B4DZ88, Q13999, Q14707, Q15387, Q17RZ5, Q5GGW3, Q86UP2, Q86W57

    5. NM_001402683.1 → NP_001389612.1  kinectin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL138499

    6. NM_001402684.1 → NP_001389613.1  kinectin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL138499

    7. NM_001402685.1 → NP_001389614.1  kinectin isoform d

      Status: REVIEWED

      Source sequence(s)
      AL138499

    8. NM_001402686.1 → NP_001389615.1  kinectin isoform d

      Status: REVIEWED

      Source sequence(s)
      AL138499

    9. NM_001402687.1 → NP_001389616.1  kinectin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL138499

    10. NM_001402688.1 → NP_001389617.1  kinectin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL138499

    11. NM_001402689.1 → NP_001389618.1  kinectin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL138499

    12. NM_001402690.1 → NP_001389619.1  kinectin isoform 21

      Status: REVIEWED

      Source sequence(s)
      AL138499

    13. NM_001402691.1 → NP_001389620.1  kinectin isoform b

      Status: REVIEWED

      Source sequence(s)
      AL138499
      Related
      ENSP00000394992.2, ENST00000413890.6

    14. NM_001402692.1 → NP_001389621.1  kinectin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL138499

    15. NM_001402693.1 → NP_001389622.1  kinectin isoform c

      Status: REVIEWED

      Source sequence(s)
      AL138499

    16. NM_001402694.1 → NP_001389623.1  kinectin isoform c

      Status: REVIEWED

      Source sequence(s)
      AL138499
      Consensus CDS
      CCDS41958.1

    17. NM_001402696.1 → NP_001389625.1  kinectin isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL138499

    18. NM_001402698.1 → NP_001389627.1  kinectin isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL138499

    19. NM_001402699.1 → NP_001389628.1  kinectin isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL138499

    20. NM_001402700.1 → NP_001389629.1  kinectin isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL138499

    21. NM_001402701.1 → NP_001389630.1  kinectin isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL138499

    22. NM_001402702.1 → NP_001389631.1  kinectin isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL138499

    23. NM_001402703.1 → NP_001389632.1  kinectin isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL138499

    24. NM_001402704.1 → NP_001389633.1  kinectin isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL138499

    25. NM_001402705.1 → NP_001389634.1  kinectin isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL138499

    26. NM_001402706.1 → NP_001389635.1  kinectin isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL138499

    27. NM_001402707.1 → NP_001389636.1  kinectin isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL138499

    28. NM_001402708.1 → NP_001389637.1  kinectin isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL138499

    29. NM_001402709.1 → NP_001389638.1  kinectin isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL138499

    30. NM_001402710.1 → NP_001389639.1  kinectin isoform 19

      Status: REVIEWED

      Source sequence(s)
      AL138499

    31. NM_001402711.1 → NP_001389640.1  kinectin isoform 20

      Status: REVIEWED

      Source sequence(s)
      AL138499

    32. NM_004986.4 → NP_004977.2  kinectin isoform c

      See identical proteins and their annotated locations for NP_004977.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region compared to variant 2. This variant encodes isoform c, which is shorter than isoform a.
      Source sequence(s)
      BM981127, DA769269, L25616
      Consensus CDS
      CCDS41958.1
      UniProtKB/Swiss-Prot
      Q86UP2
      Related
      ENSP00000391964.2, ENST00000438792.6
      Conserved Domains (1) summary
      COG1196
      Location:326 → 1050
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. NR_073128.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses two and lacks two alternate internal exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY264265, BC050555, BC112337, BM981127, DA769269

    2. NR_073129.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses two alternate internal exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY264265, DA769269
      Related
      ENST00000459737.5

    3. NR_175283.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    4. NR_175284.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    5. NR_175285.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    6. NR_175286.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    7. NR_175287.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    8. NR_175288.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    9. NR_175289.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    10. NR_175290.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL138499

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      55580207..55684584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431361.1 → XP_047287317.1  kinectin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      49785926..49890300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376038.1 → XP_054232013.1  kinectin isoform X1

    2. XM_054376040.1 → XP_054232015.1  kinectin isoform X6

    3. XM_054376031.1 → XP_054232006.1  kinectin isoform X2

      UniProtKB/Swiss-Prot
      B4DZ88, Q13999, Q14707, Q15387, Q17RZ5, Q5GGW3, Q86UP2, Q86W57

    4. XM_054376030.1 → XP_054232005.1  kinectin isoform X2

      UniProtKB/Swiss-Prot
      B4DZ88, Q13999, Q14707, Q15387, Q17RZ5, Q5GGW3, Q86UP2, Q86W57

    5. XM_054376034.1 → XP_054232009.1  kinectin isoform X3

    6. XM_054376039.1 → XP_054232014.1  kinectin isoform X1

    7. XM_054376029.1 → XP_054232004.1  kinectin isoform X2

      UniProtKB/Swiss-Prot
      B4DZ88, Q13999, Q14707, Q15387, Q17RZ5, Q5GGW3, Q86UP2, Q86W57

    8. XM_054376032.1 → XP_054232007.1  kinectin isoform X3

    9. XM_054376036.1 → XP_054232011.1  kinectin isoform X4

    10. XM_054376033.1 → XP_054232008.1  kinectin isoform X3

    11. XM_054376035.1 → XP_054232010.1  kinectin isoform X4

    12. XM_054376037.1 → XP_054232012.1  kinectin isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182926.2: Suppressed sequence

      Description
      NM_182926.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UP2.1 GenPept UniProtKB/Swiss-Prot:Q86UP2

    Gene LinkOut

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

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