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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]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Rho GTPases | ||
2 | Cytoskeletal Signaling | ||
3 | Actin Nucleation by ARP-WASP Complex |
RhoA Pathway
.35
|
|
4 | RHO GTPases activate KTN1 | ||
5 | Signaling by GPCR |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Kanamycin | Approved, Investigational, Vet_approved | Pharma | Enzyme, substrate | 14 |
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: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KTN1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KTN1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KTN1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ktn1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KTN1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | KTN1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KTN1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2481 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.11429 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ktn1 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114095603 | Benign: not provided | 55,640,948(+) |
G/C NM_001079521.2(KTN1):c.1999G>C (p.Glu667Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs115128151 | Benign: not provided | 55,678,416(+) |
T/C NM_001079521.2(KTN1):c.3920T>C (p.Ile1307Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs137964512 | Likely Benign: not provided | 55,617,996(+) |
A/G NM_001079521.2(KTN1):c.694A>G (p.Thr232Ala) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs149795430 | Likely Benign: not provided | 55,661,569(+) |
A/G NM_001079521.2(KTN1):c.3047A>G (p.Asp1016Gly) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs17128636 | Benign: not provided | 55,628,008(+) |
C/A NM_001079521.2(KTN1):c.1060C>A (p.Arg354=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1069796 | CNV | deletion | 25765185 |
nsv1143750 | CNV | deletion | 24896259 |
nsv1283 | CNV | deletion | 18451855 |
nsv832804 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aplastic anemia |
|
|