DYNLL1 (dynein light chain LC8-type 1) - Rat Genome Database

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Gene: DYNLL1 (dynein light chain LC8-type 1) Homo sapiens
Analyze
Symbol: DYNLL1
Name: dynein light chain LC8-type 1
RGD ID: 731010
HGNC Page HGNC:15476
Description: Enables deoxyribonuclease inhibitor activity. Involved in negative regulation of DNA strand resection involved in replication fork processing and negative regulation of phosphorylation. Located in several cellular components, including COP9 signalosome; kinetochore; and microtubule cytoskeleton. Part of cytoplasmic dynein complex. Is active in site of double-strand break.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 8 kDa dynein light chain; cytoplasmic dynein light polypeptide; DLC1; DLC8; DNCL1; DNCLC1; dynein light chain 1, cytoplasmic; dynein, cytoplasmic, light polypeptide 1; dynein, light chain, LC8-type 1; hdlc1; LC8; LC8a; MGC126137; MGC126138; PIN; protein inhibitor of neuronal nitric oxide synthase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: DYNLL1P1   DYNLL1P2   DYNLL1P3   DYNLL1P4   DYNLL1P5   DYNLL1P6   DYNLL1P7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: DLC1 (Gene ID: 10395) and DYNLL1 (Gene ID: 8655) share the DLC1 symbol/alias in common. DLC1 is sometimes used as an alternative name for dynein light chain LC8-type 1 (DYNLL1), which can be confused with the official symbol for DLC1 Rho GTPase activating protein (DLC1). [05 Jul 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812120,469,842 - 120,498,493 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,469,850 - 120,498,493 (+)EnsemblGRCh38hg38GRCh38
GRCh3712120,907,645 - 120,936,296 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,392,043 - 119,420,681 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412119,396,652 - 119,399,010NCBI
Celera12120,542,375 - 120,570,391 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12117,917,550 - 117,946,088 (+)NCBIHuRef
CHM1_112120,876,465 - 120,905,100 (+)NCBICHM1_1
T2T-CHM13v2.012120,459,024 - 120,487,665 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-[3-acetyl-4-[3-(tert-butylamino)-2-hydroxypropoxy]phenyl]-1,1-diethylurea  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aconitine  (ISO)
acrylamide  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benidipine  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
Dibutyl phosphate  (EXP)
diethylstilbestrol  (ISO)
diuron  (EXP,ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
Mesaconitine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
N(4)-hydroxycytidine  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
p-toluidine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
sarin  (EXP)
sevoflurane  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sulfadimethoxine  (ISO)
sulindac  (ISO)
sulindac sulfide  (EXP)
T-2 toxin  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cytoplasmic dynein. Allan VJ, Biochem Soc Trans. 2011 Oct;39(5):1169-78. doi: 10.1042/BST0391169.
2. Induction of protein inhibitor of neuronal nitric oxide synthase/cytoplasmic dynein light chain following cerebral ischemia. Gillardon F, etal., Neuroscience. 1998 May;84(1):81-8.
3. PIN: an associated protein inhibitor of neuronal nitric oxide synthase. Jaffrey SR and Snyder SH, Science 1996 Nov 1;274(5288):774-7.
4. Antisense and short hairpin RNA (shRNA) constructs targeting PIN (Protein Inhibitor of NOS) ameliorate aging-related erectile dysfunction in the rat. Magee TR, etal., J Sex Med. 2007 May;4(3):633-43. Epub 2007 Apr 13.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Angiotensin II-mediated post-translational modification of nNOS in the PVN of rats with CHF: Role for PIN. Sharma NM, etal., Am J Physiol Heart Circ Physiol. 2013 Jul 5.
8. RNA silencing targeting PIN (protein inhibitor of neuronal nitric oxide synthase) attenuates the development of hypertension in young spontaneously hypertensive rats. Wang SC, etal., J Am Soc Hypertens. 2014 Jan;8(1):5-13. doi: 10.1016/j.jash.2013.07.010. Epub 2013 Sep 12.
9. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:7790358   PMID:7829101   PMID:8628263   PMID:9372968   PMID:9808041   PMID:9808772   PMID:9837926   PMID:10198631   PMID:10426949   PMID:10683380   PMID:10844022   PMID:11024152  
PMID:11056532   PMID:11069771   PMID:11076968   PMID:11122378   PMID:11148209   PMID:11157096   PMID:11178896   PMID:11243854   PMID:11978406   PMID:12097491   PMID:12221128   PMID:12475239  
PMID:12477932   PMID:12591950   PMID:12761050   PMID:12766061   PMID:12852856   PMID:14561217   PMID:14607843   PMID:14607844   PMID:14760703   PMID:14764673   PMID:15117959   PMID:15193260  
PMID:15504720   PMID:15560738   PMID:15611139   PMID:15891768   PMID:15937109   PMID:16098226   PMID:16169070   PMID:16260502   PMID:16341674   PMID:16462731   PMID:16684779   PMID:16781079  
PMID:16946704   PMID:17012239   PMID:17169380   PMID:17172455   PMID:17353931   PMID:18084006   PMID:18407958   PMID:18420585   PMID:18579519   PMID:18692162   PMID:18767155   PMID:18782753  
PMID:18850735   PMID:19032974   PMID:19156129   PMID:19454010   PMID:19557173   PMID:19615732   PMID:19946888   PMID:20133940   PMID:20360068   PMID:20379614   PMID:20412299   PMID:20444980  
PMID:20562859   PMID:20801876   PMID:20889982   PMID:20921139   PMID:20936810   PMID:21094642   PMID:21145461   PMID:21399614   PMID:21454704   PMID:21533121   PMID:21565611   PMID:21621319  
PMID:21873635   PMID:21900206   PMID:21971545   PMID:21988832   PMID:22167198   PMID:22430153   PMID:22514732   PMID:22810585   PMID:22863883   PMID:22926577   PMID:22939629   PMID:22965910  
PMID:23027904   PMID:23293355   PMID:23376485   PMID:23455922   PMID:23482567   PMID:23508102   PMID:23589491   PMID:23602568   PMID:23741361   PMID:24255178   PMID:24366813   PMID:24457600  
PMID:24981860   PMID:24986880   PMID:25272277   PMID:25416956   PMID:25437307   PMID:25568209   PMID:25659154   PMID:25693804   PMID:25741013   PMID:25830415   PMID:25852190   PMID:25959826  
PMID:25963833   PMID:26157129   PMID:26186194   PMID:26217791   PMID:26226419   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26652654   PMID:26923072   PMID:26972000   PMID:27173435  
PMID:27248496   PMID:27481317   PMID:27545878   PMID:27609421   PMID:27705803   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28718761   PMID:29053956   PMID:29128334  
PMID:29162697   PMID:29240760   PMID:29298432   PMID:29459360   PMID:29507755   PMID:29511261   PMID:29568061   PMID:29777862   PMID:29845934   PMID:29934401   PMID:30018294   PMID:30166453  
PMID:30196744   PMID:30209976   PMID:30217970   PMID:30258100   PMID:30463901   PMID:30464262   PMID:30804502   PMID:30833792   PMID:30884312   PMID:30982887   PMID:31024851   PMID:31091453  
PMID:31266884   PMID:31391242   PMID:31505170   PMID:31586073   PMID:31594818   PMID:31732153   PMID:32129710   PMID:32296183   PMID:32552912   PMID:32687490   PMID:32707033   PMID:32780723  
PMID:32807901   PMID:32814053   PMID:32891193   PMID:32989298   PMID:33171156   PMID:33301849   PMID:33306668   PMID:33476154   PMID:33644029   PMID:33916271   PMID:33947818   PMID:33961781  
PMID:34011540   PMID:34226595   PMID:34244565   PMID:34349018   PMID:34537242   PMID:34672954   PMID:34709727   PMID:35013218   PMID:35016035   PMID:35140242   PMID:35235311   PMID:35256949  
PMID:35271311   PMID:35439318   PMID:35446349   PMID:35563538   PMID:35575683   PMID:35619131   PMID:35676659   PMID:35696549   PMID:35831314   PMID:35914814   PMID:35944360   PMID:35989368  
PMID:36114006   PMID:36180891   PMID:36215168   PMID:36373674   PMID:36517590   PMID:36652389   PMID:36736316   PMID:36861887   PMID:36950384   PMID:37164154   PMID:37223481   PMID:37317656  
PMID:37640791   PMID:37689310   PMID:37696958   PMID:37827155   PMID:38113892   PMID:38280479   PMID:38334954   PMID:38580884   PMID:38960286   PMID:39098523  


Genomics

Comparative Map Data
DYNLL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812120,469,842 - 120,498,493 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,469,850 - 120,498,493 (+)EnsemblGRCh38hg38GRCh38
GRCh3712120,907,645 - 120,936,296 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,392,043 - 119,420,681 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412119,396,652 - 119,399,010NCBI
Celera12120,542,375 - 120,570,391 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12117,917,550 - 117,946,088 (+)NCBIHuRef
CHM1_112120,876,465 - 120,905,100 (+)NCBICHM1_1
T2T-CHM13v2.012120,459,024 - 120,487,665 (+)NCBIT2T-CHM13v2.0
Dynll1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395115,435,129 - 115,438,995 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5115,435,169 - 115,439,058 (-)EnsemblGRCm39 Ensembl
GRCm385115,297,110 - 115,300,990 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5115,297,110 - 115,300,999 (-)EnsemblGRCm38mm10GRCm38
MGSCv375115,747,119 - 115,750,999 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365115,559,422 - 115,561,933 (-)NCBIMGSCv36mm8
Celera5112,394,410 - 112,398,301 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map556.04NCBI
Dynll1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81246,945,291 - 46,976,867 (+)NCBIGRCr8
mRatBN7.21241,312,365 - 41,316,157 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1241,312,367 - 41,314,741 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1242,479,075 - 42,481,446 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01243,092,738 - 43,095,109 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01242,153,290 - 42,155,661 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01247,074,200 - 47,076,573 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,074,200 - 47,076,572 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01248,867,516 - 48,869,889 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,580,542 - 42,582,915 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,443,929 - 42,446,302 (+)NCBI
Celera1242,933,102 - 42,935,475 (+)NCBICelera
Cytogenetic Map12q16NCBI
Dynll1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545511,148,047 - 11,150,859 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545511,148,041 - 11,150,860 (-)NCBIChiLan1.0ChiLan1.0
DYNLL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210128,539,098 - 128,567,509 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112128,535,475 - 128,563,886 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012118,078,401 - 118,080,822 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112121,452,118 - 121,454,550 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12121,452,118 - 121,454,550 (+)Ensemblpanpan1.1panPan2
DYNLL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12616,369,878 - 16,402,302 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2616,398,886 - 16,402,021 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2616,399,889 - 16,402,458 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2616,373,479 - 16,405,461 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02616,637,042 - 16,669,452 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2616,667,035 - 16,670,006 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12616,597,102 - 16,629,472 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02616,673,811 - 16,705,772 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02616,715,648 - 16,747,621 (+)NCBIUU_Cfam_GSD_1.0
Dynll1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118145,952,956 - 145,985,917 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936668448,489 - 500,800 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936668451,846 - 484,841 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DYNLL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1440,455,985 - 40,459,104 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11440,455,954 - 40,458,352 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21442,956,562 - 42,958,960 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DYNLL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111115,851,020 - 115,855,526 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11115,851,381 - 115,851,647 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037129,247,006 - 129,249,444 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dynll1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474713,169,865 - 13,172,525 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474713,169,865 - 13,172,592 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DYNLL1
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31
uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)x3 copy number gain See cases [RCV000447605] Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3 copy number gain not provided [RCV000683452] Chr12:120516089..121376736 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33
likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382) copy number gain not specified [RCV002053027] Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31
likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3 copy number gain not provided [RCV002473613] Chr12:120665945..120951612 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4 copy number gain not provided [RCV002475870] Chr12:120761046..121280839 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33
pathogenic
NC_000012.11:g.(?_120270555)_(124242579_?)dup duplication Deficiency of butyryl-CoA dehydrogenase [RCV004578383] Chr12:120270555..124242579 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2374
Count of miRNA genes:882
Interacting mature miRNAs:1064
Transcripts:ENST00000242577, ENST00000392508, ENST00000392509, ENST00000548214, ENST00000548342, ENST00000549649, ENST00000549989, ENST00000550178, ENST00000550845, ENST00000552316, ENST00000552870
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407364774GWAS1013750_Hreticulocyte count QTL GWAS1013750 (human)5e-78reticulocyte counttotal reticulocyte count (CMO:0003020)12120482326120482327Human
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
407211047GWAS860023_Hcognitive function measurement QTL GWAS860023 (human)1e-08cognitive function measurement12120474407120474408Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
407177798GWAS826774_Hmean corpuscular volume QTL GWAS826774 (human)2e-52mean corpuscular volumemean corpuscular volume (CMO:0000038)12120485046120485047Human
407207558GWAS856534_Hmathematical ability QTL GWAS856534 (human)5e-11mathematical ability12120474407120474408Human
407218081GWAS867057_Hself reported educational attainment QTL GWAS867057 (human)1e-14self reported educational attainment12120487992120487993Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
406897765GWAS546741_Hreticulocyte count QTL GWAS546741 (human)2e-83reticulocyte counttotal reticulocyte count (CMO:0003020)12120472201120472202Human
407395213GWAS1044189_HC-reactive protein measurement QTL GWAS1044189 (human)9e-34C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12120479919120479920Human
407369889GWAS1018865_Hreticulocyte count QTL GWAS1018865 (human)2e-79reticulocyte counttotal reticulocyte count (CMO:0003020)12120482326120482327Human
407407680GWAS1056656_Hserum gamma-glutamyl transferase measurement QTL GWAS1056656 (human)3e-23serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)12120479919120479920Human
407175177GWAS824153_Hmean corpuscular hemoglobin QTL GWAS824153 (human)1e-26mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)12120485046120485047Human
407214984GWAS863960_Hmean corpuscular volume QTL GWAS863960 (human)2e-37mean corpuscular volumemean corpuscular volume (CMO:0000038)12120485046120485047Human
407219624GWAS868600_Hmathematical ability QTL GWAS868600 (human)5e-09mathematical ability12120474407120474408Human
406899631GWAS548607_Hreticulocyte count QTL GWAS548607 (human)4e-66reticulocyte counttotal reticulocyte count (CMO:0003020)12120472201120472202Human
407204778GWAS853754_Hmean reticulocyte volume QTL GWAS853754 (human)4e-33reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)12120485046120485047Human
407387771GWAS1036747_Hreticulocyte count QTL GWAS1036747 (human)9e-68reticulocyte counttotal reticulocyte count (CMO:0003020)12120482326120482327Human
407219633GWAS868609_Hmathematical ability QTL GWAS868609 (human)8e-16mathematical ability12120474407120474408Human
407404244GWAS1053220_HC-reactive protein measurement QTL GWAS1053220 (human)4e-33C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12120479919120479920Human

Markers in Region
UniSTS:472905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37118,839,597 - 18,839,666UniSTSGRCh37
Build 36118,712,184 - 18,712,253RGDNCBI36
Celera117,169,445 - 17,169,514RGD
HuRef117,085,917 - 17,085,986UniSTS
G29076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712120,923,592 - 120,923,918UniSTSGRCh37
Build 3612119,407,975 - 119,408,301RGDNCBI36
Celera12120,557,691 - 120,558,017RGD
Cytogenetic Map12q24.23UniSTS
HuRef12117,933,389 - 117,933,715UniSTS
RH67198  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q24.23UniSTS
G34959  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q24.23UniSTS
RH80827  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q24.23UniSTS
UniSTS:489754  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1461,880,193 - 61,880,776UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001037494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC063943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG474448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG705617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI491360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM817665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU598428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB992195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD678447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U32944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000242577   ⟹   ENSP00000242577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,496,113 - 120,498,493 (+)Ensembl
Ensembl Acc Id: ENST00000392508   ⟹   ENSP00000376296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,496,091 - 120,498,491 (+)Ensembl
Ensembl Acc Id: ENST00000392509   ⟹   ENSP00000376297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,469,850 - 120,498,493 (+)Ensembl
Ensembl Acc Id: ENST00000548214   ⟹   ENSP00000448608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,496,082 - 120,496,896 (+)Ensembl
Ensembl Acc Id: ENST00000548342   ⟹   ENSP00000447907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,469,883 - 120,498,237 (+)Ensembl
Ensembl Acc Id: ENST00000549649   ⟹   ENSP00000448834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,469,857 - 120,496,547 (+)Ensembl
Ensembl Acc Id: ENST00000549989   ⟹   ENSP00000446614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,496,113 - 120,498,350 (+)Ensembl
Ensembl Acc Id: ENST00000550178   ⟹   ENSP00000446596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,496,101 - 120,496,681 (+)Ensembl
Ensembl Acc Id: ENST00000550845   ⟹   ENSP00000447494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,496,113 - 120,497,673 (+)Ensembl
Ensembl Acc Id: ENST00000552316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,497,824 - 120,498,493 (+)Ensembl
Ensembl Acc Id: ENST00000552870   ⟹   ENSP00000449088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,496,113 - 120,498,472 (+)Ensembl
RefSeq Acc Id: NM_001037494   ⟹   NP_001032583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,469,842 - 120,498,493 (+)NCBI
GRCh3712120,907,660 - 120,936,298 (+)ENTREZGENE
Build 3612119,392,043 - 119,420,681 (+)NCBI Archive
HuRef12117,917,550 - 117,946,088 (+)ENTREZGENE
CHM1_112120,876,465 - 120,905,100 (+)NCBI
T2T-CHM13v2.012120,459,024 - 120,487,665 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001037495   ⟹   NP_001032584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,496,113 - 120,498,493 (+)NCBI
GRCh3712120,907,660 - 120,936,298 (+)ENTREZGENE
Build 3612119,418,242 - 119,420,681 (+)NCBI Archive
HuRef12117,917,550 - 117,946,088 (+)ENTREZGENE
CHM1_112120,902,661 - 120,905,100 (+)NCBI
T2T-CHM13v2.012120,485,285 - 120,487,665 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003746   ⟹   NP_003737
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,496,113 - 120,498,493 (+)NCBI
GRCh3712120,907,660 - 120,936,298 (+)ENTREZGENE
Build 3612119,418,242 - 119,420,681 (+)NCBI Archive
HuRef12117,917,550 - 117,946,088 (+)ENTREZGENE
CHM1_112120,902,661 - 120,905,100 (+)NCBI
T2T-CHM13v2.012120,485,285 - 120,487,665 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001032583   ⟸   NM_001037494
- UniProtKB: Q15701 (UniProtKB/Swiss-Prot),   P63167 (UniProtKB/Swiss-Prot),   Q6FGH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001032584   ⟸   NM_001037495
- UniProtKB: Q15701 (UniProtKB/Swiss-Prot),   P63167 (UniProtKB/Swiss-Prot),   Q6FGH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003737   ⟸   NM_003746
- UniProtKB: Q15701 (UniProtKB/Swiss-Prot),   P63167 (UniProtKB/Swiss-Prot),   Q6FGH9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000242577   ⟸   ENST00000242577
Ensembl Acc Id: ENSP00000447907   ⟸   ENST00000548342
Ensembl Acc Id: ENSP00000448608   ⟸   ENST00000548214
Ensembl Acc Id: ENSP00000446614   ⟸   ENST00000549989
Ensembl Acc Id: ENSP00000448834   ⟸   ENST00000549649
Ensembl Acc Id: ENSP00000376297   ⟸   ENST00000392509
Ensembl Acc Id: ENSP00000376296   ⟸   ENST00000392508
Ensembl Acc Id: ENSP00000447494   ⟸   ENST00000550845
Ensembl Acc Id: ENSP00000446596   ⟸   ENST00000550178
Ensembl Acc Id: ENSP00000449088   ⟸   ENST00000552870

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P63167-F1-model_v2 AlphaFold P63167 1-89 view protein structure

Promoters
RGD ID:6790487
Promoter ID:HG_KWN:16826
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:NM_001037494,   NM_003769,   UC009ZWY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612119,390,646 - 119,392,042 (-)MPROMDB
RGD ID:6790625
Promoter ID:HG_KWN:16827
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:NM_001037495,   NM_003746,   UC001TYK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612119,418,176 - 119,418,897 (-)MPROMDB
RGD ID:7225611
Promoter ID:EPDNEW_H18552
Type:initiation region
Name:DYNLL1_1
Description:dynein light chain LC8-type 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
GRCh3812120,496,113 - 120,496,173EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15476 AgrOrtholog
COSMIC DYNLL1 COSMIC
Ensembl Genes ENSG00000088986 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000242577 ENTREZGENE
  ENST00000242577.11 UniProtKB/Swiss-Prot
  ENST00000392508 ENTREZGENE
  ENST00000392508.2 UniProtKB/Swiss-Prot
  ENST00000392509 ENTREZGENE
  ENST00000392509.6 UniProtKB/Swiss-Prot
  ENST00000548214.1 UniProtKB/TrEMBL
  ENST00000548342.5 UniProtKB/Swiss-Prot
  ENST00000549649.5 UniProtKB/TrEMBL
  ENST00000549989.1 UniProtKB/Swiss-Prot
  ENST00000550178.1 UniProtKB/TrEMBL
  ENST00000550845.5 UniProtKB/TrEMBL
  ENST00000552870.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.740.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000088986 GTEx
HGNC ID HGNC:15476 ENTREZGENE
Human Proteome Map DYNLL1 Human Proteome Map
InterPro DLC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_light_1/2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dynein_light_chain_typ-1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8655 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8655 ENTREZGENE
OMIM 601562 OMIM
PANTHER DYNEIN LIGHT CHAIN 1, CYTOPLASMIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11886 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Dynein_light UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134972261 PharmGKB
PROSITE DYNEIN_LIGHT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Dynein_light UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54648 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt DYL1_HUMAN UniProtKB/Swiss-Prot
  F8VRV5_HUMAN UniProtKB/TrEMBL
  F8VXI7_HUMAN UniProtKB/TrEMBL
  F8VXL2_HUMAN UniProtKB/TrEMBL
  P63167 ENTREZGENE
  Q15701 ENTREZGENE
  Q6FGH9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q15701 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 DYNLL1  dynein light chain LC8-type 1  DYNLL1  dynein, light chain, LC8-type 1  Symbol and/or name change 5135510 APPROVED