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The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]
SEC14L1 (SEC14 Like Lipid Binding 1) is a Protein Coding gene. Diseases associated with SEC14L1 include Complement Component 7 Deficiency and Amyotrophic Neuralgia. An important paralog of this gene is SEC14L5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17092608 |
GO:0039552 | RIG-I binding | IPI | 23843640 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 17092608 |
GO:0005758 | mitochondrial intermembrane space | IEA | -- |
GO:0005794 | colocalizes_with Golgi apparatus | IEA,IDA | 17092608 |
GO:0005829 | cytosol | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0009968 | negative regulation of signal transduction | IEA | -- |
GO:0015871 | choline transport | IDA | 17092608 |
GO:0039536 | negative regulation of RIG-I signaling pathway | IMP | 23843640 |
GO:0045087 | innate immune response | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SEC14L1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SEC14L1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SEC14L1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SEC14L1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sec14l1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sec14l1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SEC14L1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SEC14L1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SEC14L1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sec14l5 30 |
|
||
Str.7219 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6996 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SEC14L1 (2 of 2) 31 |
|
OneToMany | |
sec14l1 30 31 |
|
OneToMany | |||
zgc55783 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | retm 31 |
|
OneToMany | |
CG9528 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | T23G5.2 30 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
SEC14 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10399 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114161301 | Benign: not provided | 77,213,398(+) |
C/T NM_001143998.2(SEC14L1):c.1948C>T (p.Pro650Ser) |
MISSENSE | |
rs140813836 | Benign: not provided | 77,203,586(+) |
C/T NM_001143998.2(SEC14L1):c.1026C>T (p.Tyr342=) |
SYNONYMOUS | |
rs143199360 | Likely Benign: not provided | 77,213,409(+) |
C/T NM_001143998.2(SEC14L1):c.1959C>T (p.Asp653=) |
SYNONYMOUS | |
rs143320926 | Benign: not provided | 77,209,465(+) |
G/T NM_001143998.2(SEC14L1):c.1600G>T (p.Ala534Ser) |
MISSENSE | |
rs144815495 | Likely Benign: not provided | 77,190,913(+) |
C/G NM_001143998.2(SEC14L1):c.174C>G (p.Arg58=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3284n100 | CNV | gain | 25217958 |
dgv5784n54 | CNV | gain | 21841781 |
esv2050948 | CNV | deletion | 18987734 |
esv2635212 | CNV | insertion | 19546169 |
esv2675918 | CNV | deletion | 23128226 |
esv2716266 | CNV | deletion | 23290073 |
esv2716267 | CNV | deletion | 23290073 |
esv2758704 | CNV | gain | 17122850 |
esv3210300 | CNV | deletion | 24192839 |
esv34174 | CNV | loss | 18971310 |
esv3554806 | CNV | deletion | 23714750 |
esv3554810 | CNV | deletion | 23714750 |
esv3582914 | CNV | loss | 25503493 |
esv3641304 | CNV | gain | 21293372 |
esv6153 | CNV | loss | 19470904 |
nsv1063597 | CNV | gain | 25217958 |
nsv2147 | CNV | insertion | 18451855 |
nsv2148 | CNV | insertion | 18451855 |
nsv513482 | CNV | insertion | 21212237 |
nsv833551 | CNV | gain | 17160897 |
nsv960534 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
complement component 7 deficiency |
|
|
amyotrophic neuralgia |
|
|
brachial plexus neuropathy |
|
|
tylosis with esophageal cancer |
|
|