FAR1 (fatty acyl-CoA reductase 1) - Rat Genome Database

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Gene: FAR1 (fatty acyl-CoA reductase 1) Homo sapiens
Analyze
Symbol: FAR1
Name: fatty acyl-CoA reductase 1
RGD ID: 1315381
HGNC Page HGNC
Description: Enables fatty-acyl-CoA reductase (alcohol-forming) activity. Involved in ether lipid biosynthetic process; glycerophospholipid biosynthetic process; and long-chain fatty-acyl-CoA metabolic process. Located in peroxisome. Is integral component of peroxisomal membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CSPSD; DKFZp686A0370; DKFZp686P18247; fatty acyl CoA reductase 1; FLJ22728; FLJ33561; male sterility domain containing 2; male sterility domain-containing protein 2; MLSTD2; PFCRD; putative fatty acyl reductase; SDR10E1; short chain dehydrogenase/reductase family 10E, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: FAR1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1113,668,668 - 13,732,346 (+)EnsemblGRCh38hg38GRCh38
GRCh381113,668,666 - 13,732,346 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371113,690,215 - 13,753,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361113,646,847 - 13,710,469 (+)NCBINCBI36hg18NCBI36
Build 341113,646,846 - 13,710,467NCBI
Celera1113,815,947 - 13,879,631 (+)NCBI
Cytogenetic Map11p15.3NCBI
HuRef1113,370,035 - 13,433,296 (+)NCBIHuRef
CHM1_11113,688,782 - 13,752,465 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of pain sensation  (IAGP)
Abnormality of the dorsal column of the spinal cord  (IAGP)
Anarthria  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Chronic constipation  (IAGP)
Coarse facial features  (IAGP)
Complex febrile seizure  (IAGP)
Corpus callosum atrophy  (IAGP)
Dandy-Walker malformation  (IAGP)
Delayed ability to walk  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Difficulty standing  (IAGP)
Dysarthria  (IAGP)
Enlarged cisterna magna  (IAGP)
Falls  (IAGP)
Focal motor seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Highly arched eyebrow  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperreflexia in upper limbs  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Impaired executive functioning  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Juvenile cataract  (IAGP)
Long philtrum  (IAGP)
Low back pain  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb hypertonia  (IAGP)
Lower limb pain  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Mitral regurgitation  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Pes cavus  (IAGP)
Pollakisuria  (IAGP)
Postural instability  (IAGP)
Progressive microcephaly  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Smooth philtrum  (IAGP)
Spastic dysarthria  (IAGP)
Spastic gait  (IAGP)
Spastic paraparesis  (IAGP)
Spastic tetraparesis  (IAGP)
Thin upper lip vermilion  (IAGP)
Tremor  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
References

Additional References at PubMed
PMID:12975309   PMID:14702039   PMID:15220348   PMID:15220349   PMID:15489334   PMID:16344560   PMID:16396496   PMID:16756494   PMID:17353931   PMID:19027726   PMID:20071337   PMID:21145461  
PMID:21525035   PMID:21565611   PMID:21873635   PMID:22810586   PMID:23275563   PMID:23464991   PMID:24108123   PMID:24711643   PMID:24797263   PMID:25437307   PMID:25439727   PMID:26496610  
PMID:26618866   PMID:26972000   PMID:27025967   PMID:27591049   PMID:27609421   PMID:28330616   PMID:28675297   PMID:29053956   PMID:29180619   PMID:29467282   PMID:29509190   PMID:29560723  
PMID:29564676   PMID:29568061   PMID:29615496   PMID:29802200   PMID:30022168   PMID:30442662   PMID:30463901   PMID:30833792   PMID:30940648   PMID:30948266   PMID:31006538   PMID:31073040  
PMID:31091453   PMID:31240132   PMID:31343991   PMID:31527615   PMID:31586073   PMID:31753913   PMID:31980649   PMID:32031713   PMID:32060556   PMID:32513696   PMID:32814053   PMID:32941674  
PMID:33239752   PMID:33567341   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34709727  


Genomics

Comparative Map Data
FAR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1113,668,668 - 13,732,346 (+)EnsemblGRCh38hg38GRCh38
GRCh381113,668,666 - 13,732,346 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371113,690,215 - 13,753,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361113,646,847 - 13,710,469 (+)NCBINCBI36hg18NCBI36
Build 341113,646,846 - 13,710,467NCBI
Celera1113,815,947 - 13,879,631 (+)NCBI
Cytogenetic Map11p15.3NCBI
HuRef1113,370,035 - 13,433,296 (+)NCBIHuRef
CHM1_11113,688,782 - 13,752,465 (+)NCBICHM1_1
Far1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397113,113,008 - 113,170,713 (+)NCBIGRCm39mm39
GRCm39 Ensembl7113,113,041 - 113,170,718 (+)Ensembl
GRCm387113,513,719 - 113,571,506 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7113,513,834 - 113,571,511 (+)EnsemblGRCm38mm10GRCm38
MGSCv377120,657,376 - 120,713,972 (+)NCBIGRCm37mm9NCBIm37
MGSCv367113,305,043 - 113,361,639 (+)NCBImm8
Celera7113,477,286 - 113,533,885 (+)NCBICelera
Cytogenetic Map7F1NCBI
Far1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21167,644,622 - 167,705,868 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1167,644,677 - 167,705,730 (+)Ensembl
Rnor_6.01178,351,674 - 178,412,838 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1178,351,680 - 178,431,395 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01185,319,679 - 185,380,870 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41171,379,992 - 171,437,818 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11171,512,762 - 171,559,758 (+)NCBI
Celera1165,509,151 - 165,567,181 (+)NCBICelera
Cytogenetic Map1q33NCBI
Far1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541428,938,535 - 28,996,622 (+)NCBIChiLan1.0ChiLan1.0
FAR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11113,468,757 - 13,531,716 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1113,468,756 - 13,531,716 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01113,774,530 - 13,838,195 (+)NCBIMhudiblu_PPA_v0panPan3
FAR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12136,519,710 - 36,587,002 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2136,520,968 - 36,623,388 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2136,023,546 - 36,090,839 (+)NCBI
ROS_Cfam_1.02137,403,049 - 37,470,383 (+)NCBI
ROS_Cfam_1.0 Ensembl2137,403,493 - 37,471,216 (+)Ensembl
UMICH_Zoey_3.12136,661,379 - 36,728,648 (+)NCBI
UNSW_CanFamBas_1.02136,837,499 - 36,905,087 (+)NCBI
UU_Cfam_GSD_1.02137,126,652 - 37,193,960 (+)NCBI
Far1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494748,864,944 - 48,922,471 (-)NCBI
SpeTri2.0NW_0049365284,898,920 - 4,956,417 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl245,462,209 - 45,605,107 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1245,532,718 - 45,605,591 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2248,832,695 - 48,904,606 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1151,106,120 - 51,170,436 (-)NCBIChlSab1.1chlSab2
ChlSab1.1151,106,120 - 51,170,436 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl151,105,908 - 51,170,550 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038148,675,020 - 148,739,397 (-)NCBIVero_WHO_p1.0
Far1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247665,622,194 - 5,684,076 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S4062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,753,757 - 13,753,841UniSTSGRCh37
Build 361113,710,333 - 13,710,417RGDNCBI36
Celera1113,879,495 - 13,879,579RGD
Cytogenetic Map11p15.2UniSTS
HuRef1113,433,160 - 13,433,244UniSTS
STS-N63551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,753,517 - 13,753,642UniSTSGRCh37
Build 361113,710,093 - 13,710,218RGDNCBI36
Celera1113,879,255 - 13,879,380RGD
Cytogenetic Map11p15.2UniSTS
HuRef1371,418,302 - 71,418,426UniSTS
HuRef1113,432,921 - 13,433,046UniSTS
GeneMap99-GB4 RH Map1155.52UniSTS
NCBI RH Map1163.0UniSTS
MLSTD2__6323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,750,407 - 13,751,100UniSTSGRCh37
Build 361113,706,983 - 13,707,676RGDNCBI36
Celera1113,876,145 - 13,876,838RGD
HuRef1113,429,811 - 13,430,504UniSTS
RH68662  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.2UniSTS
HuRef1113,379,046 - 13,379,176UniSTS
GeneMap99-GB4 RH Map1153.09UniSTS
NCBI RH Map1163.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2595
Count of miRNA genes:832
Interacting mature miRNAs:997
Transcripts:ENST00000354817, ENST00000524933, ENST00000527202, ENST00000532502, ENST00000532701, ENST00000532769
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2416 2166 1279 203 1601 51 3294 1264 3102 302 1436 1601 167 1 1190 1957 4 1
Low 23 824 433 407 348 400 1062 933 632 117 23 11 8 14 831 2 1
Below cutoff 1 12 12 1 12 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY600449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA515509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354817   ⟹   ENSP00000346874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1113,668,668 - 13,732,346 (+)Ensembl
RefSeq Acc Id: ENST00000524933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1113,694,900 - 13,711,099 (+)Ensembl
RefSeq Acc Id: ENST00000527202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1113,710,724 - 13,715,843 (+)Ensembl
RefSeq Acc Id: ENST00000532502   ⟹   ENSP00000434624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1113,719,903 - 13,732,346 (+)Ensembl
RefSeq Acc Id: ENST00000532701   ⟹   ENSP00000437111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1113,668,711 - 13,713,084 (+)Ensembl
RefSeq Acc Id: ENST00000532769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1113,694,756 - 13,700,567 (+)Ensembl
RefSeq Acc Id: NM_032228   ⟹   NP_115604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,668,668 - 13,732,346 (+)NCBI
GRCh371113,690,206 - 13,753,893 (+)RGD
Build 361113,646,847 - 13,710,469 (+)NCBI Archive
Celera1113,815,947 - 13,879,631 (+)RGD
HuRef1113,370,035 - 13,433,296 (+)ENTREZGENE
CHM1_11113,688,782 - 13,752,465 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520400   ⟹   XP_011518702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,668,666 - 13,732,346 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115604   ⟸   NM_032228
- UniProtKB: Q8WVX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518702   ⟸   XM_011520400
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000437111   ⟸   ENST00000532701
RefSeq Acc Id: ENSP00000434624   ⟸   ENST00000532502
RefSeq Acc Id: ENSP00000346874   ⟸   ENST00000354817
Protein Domains
NAD_binding_4   Sterile

Promoters
RGD ID:6788917
Promoter ID:HG_KWN:12370
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355107,   UC001MLD.1,   UC009YGP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361113,646,246 - 13,646,912 (+)MPROMDB
RGD ID:7219701
Promoter ID:EPDNEW_H15597
Type:initiation region
Name:FAR1_1
Description:fatty acyl-CoA reductase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,668,689 - 13,668,749EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_032228.5(FAR1):c.784C>T (p.Leu262Phe) single nucleotide variant Malignant melanoma [RCV000062177] Chr11:13711943 [GRCh38]
Chr11:13733490 [GRCh37]
Chr11:13690066 [NCBI36]
Chr11:11p15.3
not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 copy number loss See cases [RCV000136773] Chr11:9989516..16825806 [GRCh38]
Chr11:10011063..16847353 [GRCh37]
Chr11:9967639..16803929 [NCBI36]
Chr11:11p15.4-15.2
pathogenic
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) indel Peroxisomal fatty acyl-coa reductase 1 disorder [RCV000149592]|not provided [RCV001264818] Chr11:13708029..13708041 [GRCh38]
Chr11:13729576..13729588 [GRCh37]
Chr11:11p15.3
pathogenic|uncertain significance|not provided
NM_032228.6(FAR1):c.787C>T (p.Arg263Ter) single nucleotide variant Peroxisomal fatty acyl-coa reductase 1 disorder [RCV000149593] Chr11:13711946 [GRCh38]
Chr11:13733493 [GRCh37]
Chr11:11p15.3
pathogenic|not provided
NM_032228.6(FAR1):c.1094A>G (p.Asp365Gly) single nucleotide variant Peroxisomal fatty acyl-coa reductase 1 disorder [RCV000149594] Chr11:13714647 [GRCh38]
Chr11:13736194 [GRCh37]
Chr11:11p15.3
pathogenic
NM_032228.6(FAR1):c.398G>A (p.Arg133Gln) single nucleotide variant not provided [RCV000324580] Chr11:13707932 [GRCh38]
Chr11:13729479 [GRCh37]
Chr11:11p15.3
uncertain significance
NM_032228.6(FAR1):c.1176A>G (p.Glu392=) single nucleotide variant not provided [RCV001574381] Chr11:13721778 [GRCh38]
Chr11:13743325 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.1439G>T (p.Arg480Leu) single nucleotide variant CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY [RCV001431540]|not provided [RCV000489959] Chr11:13728665 [GRCh38]
Chr11:13750212 [GRCh37]
Chr11:11p15.3
pathogenic|uncertain significance
NM_032228.6(FAR1):c.1439G>A (p.Arg480His) single nucleotide variant CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY [RCV001431536]|not provided [RCV000413132] Chr11:13728665 [GRCh38]
Chr11:13750212 [GRCh37]
Chr11:11p15.3
pathogenic|likely pathogenic
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys) single nucleotide variant CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY [RCV001431538]|FAR1-related neurodevelopmental disorder [RCV001796073]|not provided [RCV000484304] Chr11:13728664 [GRCh38]
Chr11:13750211 [GRCh37]
Chr11:11p15.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_032228.6(FAR1):c.545+14A>T single nucleotide variant not provided [RCV001679022] Chr11:13708093 [GRCh38]
Chr11:13729640 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.1127+226C>A single nucleotide variant not provided [RCV001549649] Chr11:13714906 [GRCh38]
Chr11:13736453 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.1440C>T (p.Arg480=) single nucleotide variant not provided [RCV000882619] Chr11:13728666 [GRCh38]
Chr11:13750213 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.286G>A (p.Glu96Lys) single nucleotide variant Peroxisomal fatty acyl-coa reductase 1 disorder [RCV001250049]|not provided [RCV000892483] Chr11:13700413 [GRCh38]
Chr11:13721960 [GRCh37]
Chr11:11p15.3
likely benign|uncertain significance
NM_032228.6(FAR1):c.1299T>C (p.Tyr433=) single nucleotide variant not provided [RCV000981811] Chr11:13727597 [GRCh38]
Chr11:13749144 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.876C>T (p.Ser292=) single nucleotide variant not provided [RCV000920891] Chr11:13712035 [GRCh38]
Chr11:13733582 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.175G>A (p.Val59Ile) single nucleotide variant not provided [RCV000959056] Chr11:13694940 [GRCh38]
Chr11:13716487 [GRCh37]
Chr11:11p15.3
benign|likely benign
NM_032228.6(FAR1):c.1332C>T (p.Tyr444=) single nucleotide variant not provided [RCV000924253] Chr11:13727630 [GRCh38]
Chr11:13749177 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.1482C>T (p.Tyr494=) single nucleotide variant not provided [RCV000980284] Chr11:13728708 [GRCh38]
Chr11:13750255 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.1128-10T>C single nucleotide variant not provided [RCV000927569] Chr11:13721720 [GRCh38]
Chr11:13743267 [GRCh37]
Chr11:11p15.3
benign
GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4 copy number gain not provided [RCV000847116] Chr11:13464883..14872063 [GRCh37]
Chr11:11p15.2
uncertain significance
GRCh37/hg19 11p15.2(chr11:13635916-13752798)x3 copy number gain not provided [RCV000849472] Chr11:13635916..13752798 [GRCh37]
Chr11:11p15.2
uncertain significance
NM_032228.6(FAR1):c.564A>G (p.Leu188=) single nucleotide variant not provided [RCV000898126] Chr11:13710711 [GRCh38]
Chr11:13732258 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.555T>C (p.Asp185=) single nucleotide variant not provided [RCV000891987] Chr11:13710702 [GRCh38]
Chr11:13732249 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.1016A>G (p.Asn339Ser) single nucleotide variant Peroxisomal fatty acyl-coa reductase 1 disorder [RCV001250080] Chr11:13714569 [GRCh38]
Chr11:13736116 [GRCh37]
Chr11:11p15.3
uncertain significance
NM_032228.6(FAR1):c.1258-216G>C single nucleotide variant not provided [RCV001610041] Chr11:13727340 [GRCh38]
Chr11:13748887 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.-7-124G>A single nucleotide variant not provided [RCV001635886] Chr11:13694635 [GRCh38]
Chr11:13716182 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.930T>C (p.Thr310=) single nucleotide variant not provided [RCV001653989] Chr11:13713008 [GRCh38]
Chr11:13734555 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.909T>C (p.Tyr303=) single nucleotide variant not provided [RCV000907112] Chr11:13712987 [GRCh38]
Chr11:13734534 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.1089G>T (p.Leu363=) single nucleotide variant not provided [RCV000940526] Chr11:13714642 [GRCh38]
Chr11:13736189 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.190-5G>T single nucleotide variant not provided [RCV000974260] Chr11:13700312 [GRCh38]
Chr11:13721859 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.772G>A (p.Gly258Arg) single nucleotide variant Peroxisomal fatty acyl-coa reductase 1 disorder [RCV000985084] Chr11:13711931 [GRCh38]
Chr11:13733478 [GRCh37]
Chr11:11p15.3
likely pathogenic
NM_032228.6(FAR1):c.1077C>G (p.Ala359=) single nucleotide variant not provided [RCV000935297] Chr11:13714630 [GRCh38]
Chr11:13736177 [GRCh37]
Chr11:11p15.3
likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_032228.6(FAR1):c.545+303dup duplication not provided [RCV001539752] Chr11:13708372..13708373 [GRCh38]
Chr11:13729919..13729920 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.888-197_888-195del microsatellite not provided [RCV001673289] Chr11:13712764..13712766 [GRCh38]
Chr11:13734311..13734313 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.1257+172T>G single nucleotide variant not provided [RCV001594072] Chr11:13722031 [GRCh38]
Chr11:13743578 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.887+258dup duplication not provided [RCV001659033] Chr11:13712291..13712292 [GRCh38]
Chr11:13733838..13733839 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.365+200A>G single nucleotide variant not provided [RCV001649846] Chr11:13700692 [GRCh38]
Chr11:13722239 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.1386-243A>T single nucleotide variant not provided [RCV001657180] Chr11:13728369 [GRCh38]
Chr11:13749916 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.189+118C>A single nucleotide variant not provided [RCV001698809] Chr11:13695072 [GRCh38]
Chr11:13716619 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.1386-113C>A single nucleotide variant not provided [RCV001669881] Chr11:13728499 [GRCh38]
Chr11:13750046 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.768+46C>T single nucleotide variant not provided [RCV001680731] Chr11:13711854 [GRCh38]
Chr11:13733401 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.189+29A>G single nucleotide variant not provided [RCV001671224] Chr11:13694983 [GRCh38]
Chr11:13716530 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.365+160TCT[5] microsatellite not provided [RCV001612312] Chr11:13700651..13700652 [GRCh38]
Chr11:13722198..13722199 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.545+13G>A single nucleotide variant not provided [RCV001669690] Chr11:13708092 [GRCh38]
Chr11:13729639 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.163C>T (p.Arg55Ter) single nucleotide variant not provided [RCV001066362] Chr11:13694928 [GRCh38]
Chr11:13716475 [GRCh37]
Chr11:11p15.3
pathogenic
NM_032228.6(FAR1):c.769G>T (p.Ala257Ser) single nucleotide variant not provided [RCV001041044] Chr11:13711928 [GRCh38]
Chr11:13733475 [GRCh37]
Chr11:11p15.3
uncertain significance
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_032228.6(FAR1):c.888-5T>C single nucleotide variant not provided [RCV001490685] Chr11:13712961 [GRCh38]
Chr11:13734508 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.189+117dup duplication not provided [RCV001687267] Chr11:13695067..13695068 [GRCh38]
Chr11:13716614..13716615 [GRCh37]
Chr11:11p15.3
benign
NM_032228.6(FAR1):c.902T>C (p.Met301Thr) single nucleotide variant not provided [RCV001755083] Chr11:13712980 [GRCh38]
Chr11:13734527 [GRCh37]
Chr11:11p15.3
uncertain significance
NM_032228.6(FAR1):c.887+258del deletion not provided [RCV001732723] Chr11:13712292 [GRCh38]
Chr11:13733839 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.12C>T (p.Ile4=) single nucleotide variant not provided [RCV001776598] Chr11:13694777 [GRCh38]
Chr11:13716324 [GRCh37]
Chr11:11p15.3
likely benign
NM_032228.6(FAR1):c.1511T>G (p.Leu504Trp) single nucleotide variant not provided [RCV001764782] Chr11:13728737 [GRCh38]
Chr11:13750284 [GRCh37]
Chr11:11p15.3
uncertain significance
NM_032228.6(FAR1):c.1258-218C>T single nucleotide variant not provided [RCV001779693] Chr11:13727338 [GRCh38]
Chr11:13748885 [GRCh37]
Chr11:11p15.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26222 AgrOrtholog
COSMIC FAR1 COSMIC
Ensembl Genes ENSG00000197601 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346874 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434624 UniProtKB/TrEMBL
  ENSP00000437111 UniProtKB/TrEMBL
Ensembl Transcript ENST00000354817 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532502 UniProtKB/TrEMBL
  ENST00000532701 UniProtKB/TrEMBL
GTEx ENSG00000197601 GTEx
HGNC ID HGNC:26222 ENTREZGENE
Human Proteome Map FAR1 Human Proteome Map
InterPro FAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAR_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Male_sterile_NAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84188 UniProtKB/Swiss-Prot
NCBI Gene 84188 ENTREZGENE
OMIM 616107 OMIM
  616154 OMIM
  619338 OMIM
PANTHER PTHR11011 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NAD_binding_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sterile UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388007 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PNW8_HUMAN UniProtKB/TrEMBL
  E9PPB8_HUMAN UniProtKB/TrEMBL
  FACR1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DQW8 UniProtKB/Swiss-Prot
  Q5CZA3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-05 FAR1  fatty acyl-CoA reductase 1    fatty acyl CoA reductase 1  Symbol and/or name change 5135510 APPROVED