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 fact... See more...

Aliases for KTN1 Gene

Aliases for KTN1 Gene

  • Kinectin 1 2 3 5
  • Kinesin Receptor 3 4
  • CG-1 Antigen 3 4
  • Kinectin 3 4
  • CG1 3 4
  • Kinectin 1 (Kinesin Receptor) 2
  • MU-RMS-40.19 3
  • KIAA0004 4
  • KNT 3

External Ids for KTN1 Gene

Previous GeneCards Identifiers for KTN1 Gene

  • GC14P053370
  • GC14P049842
  • GC14P054037
  • GC14P055116
  • GC14P056046
  • GC14P036232

Summaries for KTN1 Gene

Entrez Gene Summary for KTN1 Gene

  • 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]

GeneCards Summary for KTN1 Gene

KTN1 (Kinectin 1) is a Protein Coding gene. Diseases associated with KTN1 include Aplastic Anemia. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include kinesin binding.

UniProtKB/Swiss-Prot Summary for KTN1 Gene

  • Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin.

Gene Wiki entry for KTN1 Gene

Additional gene information for KTN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KTN1 Gene

Genomics for KTN1 Gene

GeneHancer (GH) Regulatory Elements for KTN1 Gene

Promoters and enhancers for KTN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J055578 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 510.8 +22.0 21969 5.7 TCF12 POLR2G SP1 BCLAF1 PHF8 JUND ZFX POLR2A ZBTB10 ZBTB26 KTN1-AS1 KTN1 JX046911 hsa-miR-5095-132 ATG14 TBPL2 NONHSAG015045.2-001
GH14J055270 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.1 -286.1 -286071 5.2 RXRA ZBTB40 ZNF217 EP300 CTCF NRF1 POLR2G SP1 PHF8 JUND ENSG00000258413 FBXO34 LOC105370509 KTN1 LGALS3 ENSG00000259318 lnc-ATG14-3 RPL34P28
GH14J055598 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 511.5 +41.4 41357 3.7 ZNF217 TCF12 ZNF300 NCOR1 JUND FOS ZNF639 KDM6A TCF7 FOXA1 KTN1 ENSG00000259318 ATG14 WDHD1 KTN1-AS1 TBPL2 SOCS4 NONHSAG015045.2-001
GH14J055556 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 500.7 -1.6 -1606 1.9 REST CTBP1 MXI1 SIN3A NR3C1 USF1 ESR1 GATA3 STAT3 MAX KTN1 KTN1-AS1 TBPL2 ABI1P1
GH14J055671 Promoter 0.3 EPDnew 500.1 +112.8 112758 0.1 KTN1 RF00017-1563 NONHSAG015045.2-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KTN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KTN1

Top Transcription factor binding sites by QIAGEN in the KTN1 gene promoter:
  • aMEF-2
  • AML1a
  • c-Myc
  • CUTL1
  • Max1
  • MEF-2A
  • Pax-4a
  • Roaz
  • SRF
  • SRF (504 AA)

Genomic Locations for KTN1 Gene

Genomic Locations for KTN1 Gene
chr14:55,559,072-55,701,526
(GRCh38/hg38)
Size:
142,455 bases
Orientation:
Plus strand
chr14:56,025,790-56,168,244
(GRCh37/hg19)
Size:
142,455 bases
Orientation:
Plus strand

Genomic View for KTN1 Gene

Genes around KTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KTN1 Gene

Proteins for KTN1 Gene

  • Protein details for KTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UP2-KTN1_HUMAN
    Recommended name:
    Kinectin
    Protein Accession:
    Q86UP2
    Secondary Accessions:
    • B4DZ88
    • Q13999
    • Q14707
    • Q15387
    • Q17RZ5
    • Q5GGW3
    • Q86W57

    Protein attributes for KTN1 Gene

    Size:
    1357 amino acids
    Molecular mass:
    156275 Da
    Quaternary structure:
    • Parallel homodimers formed between the membrane-bound and the cytosolic form, and also between 2 cytosolic forms.
    SequenceCaution:
    • Sequence=AAH50555.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA02794.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for KTN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KTN1 Gene

Post-translational modifications for KTN1 Gene

  • Glycosylation at Asn172, Asn435, Asn772, Asn904, Asn1055, Asn1088, Asn1263, and Asn1329
  • Ubiquitination at Lys285 and Lys1296
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KTN1 Gene

Domains & Families for KTN1 Gene

Gene Families for KTN1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KTN1 Gene

Blocks:
  • Spectrin repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KTN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61494, highly similar to Kinectin (B4DZ88_HUMAN)
  • Kinesin receptor (KTN1_HUMAN)
  • KTN1 protein (Q3SWV9_HUMAN)
  • KTN1 protein (Q6NZ46_HUMAN)
  • KTN1 protein (Q6PDF7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86UP2

UniProtKB/Swiss-Prot:

KTN1_HUMAN :
  • Belongs to the kinectin family.
Family:
  • Belongs to the kinectin family.
genes like me logo Genes that share domains with KTN1: view

Function for KTN1 Gene

Molecular function for KTN1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin.
GENATLAS Biochemistry:
kinectin 1,156kDa,vesicle membrane protein of the endoplasmic reticulum,binding vesicles to kinesin and promoting vesicle motility,expressed in diverse tissues

Phenotypes From GWAS Catalog for KTN1 Gene

Gene Ontology (GO) - Molecular Function for KTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 25416956
GO:0019894 kinesin binding IEA --
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with KTN1: view
genes like me logo Genes that share phenotypes with KTN1: view

Animal Model Products

CRISPR Products

miRNA for KTN1 Gene

miRTarBase miRNAs that target KTN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KTN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KTN1 Gene

Localization for KTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KTN1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Vesicle membrane protein anchored to the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KTN1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytoskeleton 2
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7787243
GO:0016020 membrane TAS,HDA 19946888
genes like me logo Genes that share ontologies with KTN1: view

Pathways & Interactions for KTN1 Gene

genes like me logo Genes that share pathways with KTN1: view

Pathways by source for KTN1 Gene

1 Qiagen pathway for KTN1 Gene
  • RhoA Pathway
1 Cell Signaling Technology pathway for KTN1 Gene

SIGNOR curated interactions for KTN1 Gene

Activates:

Gene Ontology (GO) - Biological Process for KTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement NAS,IEA --
GO:0015031 protein transport IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with KTN1: view

Drugs & Compounds for KTN1 Gene

(3) Drugs for KTN1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Kanamycin Approved, Investigational, Vet_approved Pharma Enzyme, substrate 14
genes like me logo Genes that share compounds with KTN1: view

Transcripts for KTN1 Gene

mRNA/cDNA for KTN1 Gene

5 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KTN1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KTN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: - -
SP11:
SP12:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b · 35c ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43a · 43b ^ 44a · 44b ^ 45a · 45b ^
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6:
SP7:
SP8: - -
SP9: -
SP10:
SP11:
SP12:

ExUns: 46 ^ 47
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for KTN1 Gene

GeneLoc Exon Structure for
KTN1

Expression for KTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KTN1 Gene

mRNA differential expression in normal tissues according to GTEx for KTN1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for KTN1 Gene

This gene is overexpressed in Lymph node (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KTN1 Gene



Protein tissue co-expression partners for KTN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KTN1

SOURCE GeneReport for Unigene cluster for KTN1 Gene:

Hs.509414

mRNA Expression by UniProt/SwissProt for KTN1 Gene:

Q86UP2-KTN1_HUMAN
Tissue specificity: High levels in peripheral blood lymphocytes, testis and ovary, lower levels in spleen, thymus, prostate, small intestine and colon.

Evidence on tissue expression from TISSUES for KTN1 Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Lung(4.7)
  • Blood(4.4)
  • Bone marrow(4.3)
  • Heart(4.2)
  • Adrenal gland(4)
  • Kidney(3.8)
  • Intestine(3.1)
  • Skin(2.8)
  • Muscle(2.6)
  • Spleen(2.6)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with KTN1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KTN1 Gene

Orthologs for KTN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KTN1 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KTN1 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KTN1 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ktn1 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KTN1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 77 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves KTN1 31
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KTN1 31
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2481 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11429 30
zebrafish
(Danio rerio)
Actinopterygii ktn1 31 30 30
  • 52.29 (n)
OneToOne
Species where no ortholog for KTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KTN1 Gene

ENSEMBL:
Gene Tree for KTN1 (if available)
TreeFam:
Gene Tree for KTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KTN1: view image

Paralogs for KTN1 Gene

(1) SIMAP similar genes for KTN1 Gene using alignment to 16 proteins:

  • KTN1_HUMAN
  • B4DZ88_HUMAN
  • B7Z6P3_HUMAN
  • G3V475_HUMAN
  • G3V4L8_HUMAN
  • G3V4Y7_HUMAN
  • G3V5G2_HUMAN
  • G3V5P0_HUMAN
  • G3V5Q0_HUMAN
  • H0YJB7_HUMAN
  • H0YJP2_HUMAN
  • H0YJV5_HUMAN
  • H0YJZ8_HUMAN
  • Q3SWV9_HUMAN
  • Q6NZ46_HUMAN
  • Q6PDF7_HUMAN
genes like me logo Genes that share paralogs with KTN1: view

No data available for Paralogs for KTN1 Gene

Variants for KTN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KTN1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
710034 Benign: not provided 55,639,190(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
710035 Benign: not provided 55,640,948(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
736860 Likely Benign: not provided 55,661,569(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
768655 Benign: not provided 55,671,640(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
769861 Likely Benign: not provided 55,617,996(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for KTN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KTN1 Gene

Variant ID Type Subtype PubMed ID
nsv1069796 CNV deletion 25765185
nsv1143750 CNV deletion 24896259
nsv1283 CNV deletion 18451855
nsv832804 CNV gain 17160897

Variation tolerance for KTN1 Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.12; 61.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KTN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KTN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KTN1 Gene

Disorders for KTN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KTN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aplastic anemia
  • aa
- elite association - COSMIC cancer census association via MalaCards
Search KTN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KTN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KTN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KTN1 Gene

Publications for KTN1 Gene

  1. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S … Nigro V (Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2008) 3 23 41 54
  2. Integrin clustering induces kinectin accumulation. (PMID: 11973345) Tran H … Yamada KM (Journal of cell science 2002) 3 4 23 54
  3. Assignment of the human kinectin gene (KTN1), encoding a kinesin-binding protein, to chromosome 14 band q22.1 by in situ hybridization. (PMID: 9605849) Rao PN … Sheetz MP (Cytogenetics and cell genetics 1997) 2 3 23 54
  4. The CG-1 gene, a member of the kinectin and ES/130 family, maps to human chromosome band 14q22. (PMID: 8575822) Print CG … Krissansen GW (Immunogenetics 1996) 3 4 23 54
  5. Molecular cloning and characterization of human kinectin. (PMID: 7787243) Fütterer A … Krönke M (Molecular biology of the cell 1995) 3 4 23 54

Products for KTN1 Gene

Sources for KTN1 Gene