CRYL1 (crystallin lambda 1) - Rat Genome Database

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Gene: CRYL1 (crystallin lambda 1) Homo sapiens
Analyze
Symbol: CRYL1
Name: crystallin lambda 1
RGD ID: 735568
HGNC Page HGNC:18246
Description: Enables L-gulonate 3-dehydrogenase activity; NAD+ binding activity; and protein homodimerization activity. Predicted to be involved in D-glucuronate catabolic process to D-xylulose 5-phosphate and fatty acid metabolic process. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: crystallin, lambda 1; crystallin, lamda 1; epididymis luminal protein 30; GDH; gul3DH; HEL30; L-gulonate 3-dehydrogenase; lambda-CRY; lambda-crystallin homolog; MGC149525; MGC149526; testicular tissue protein Li 44
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,403,669 - 20,525,857 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1320,403,666 - 20,525,873 (-)EnsemblGRCh38hg38GRCh38
GRCh371320,977,808 - 21,099,996 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,875,806 - 19,998,012 (-)NCBINCBI36Build 36hg18NCBI36
Build 341319,875,812 - 19,997,943NCBI
Celera132,039,633 - 2,161,963 (-)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef131,781,253 - 1,903,750 (-)NCBIHuRef
CHM1_11320,946,082 - 21,068,258 (-)NCBICHM1_1
T2T-CHM13v2.01319,596,766 - 19,719,067 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 18 of 18 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CRYL1Humanautosomal dominant nonsyndromic deafness 3B  IAGPRGD:147188858554872ClinVar Annotator: match by term: Deafness, autosomal dominant 3bClinVarPMID:28492532
CRYL1Humanautosomal dominant nonsyndromic deafness 3B  IAGPRGD:1564396028554872ClinVar Annotator: match by term: Deafness, autosomal dominant 3bClinVarPMID:27480936|PMID:28492532
CRYL1Humanautosomal recessive nonsyndromic deafness 1A  IAGPRGD:85587748554872ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6ClinVarPMID:15994881|PMID:17041943|PMID:18324688
CRYL1Humanautosomal recessive nonsyndromic deafness 1A  IAGPRGD:1564396028554872ClinVar Annotator: match by term: Deafness, autosomal recessive 1AClinVarPMID:27480936|PMID:28492532
CRYL1Humanautosomal recessive nonsyndromic deafness 1A  IAGPRGD:85587738554872ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6ClinVarPMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688
CRYL1Humanautosomal recessive nonsyndromic deafness 1A  IAGPRGD:147188858554872ClinVar Annotator: match by term: Deafness, autosomal recessive 1AClinVarPMID:28492532
CRYL1Humanautosomal recessive nonsyndromic deafness 1A  IAGPRGD:115312238554872ClinVar Annotator: match by term: Deafness, autosomal recessive 1AClinVarPMID:20236118
CRYL1Humanautosomal recessive nonsyndromic deafness 1B  IAGPRGD:3298489418554872ClinVar Annotator: match by term: Deafness, autosomal recessive 1bClinVarPMID:25741868
CRYL1Humanautosomal recessive nonsyndromic deafness 1B  IAGPRGD:1564396028554872ClinVar Annotator: match by term: Deafness, autosomal recessive 1bClinVarPMID:27480936|PMID:28492532
CRYL1Humanautosomal recessive nonsyndromic deafness 1B  IAGPRGD:85587738554872ClinVar Annotator: match by term: Deafness, autosomal recessive 1bClinVarPMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688
CRYL1Humanautosomal recessive nonsyndromic deafness 1B  IAGPRGD:147188858554872ClinVar Annotator: match by term: Deafness, autosomal recessive 1bClinVarPMID:28492532
CRYL1Humancataract 14 multiple types  IAGPRGD:268892668554872ClinVar Annotator: match by term: Cataract 14 multiple typesClinVarPMID:28492532
CRYL1HumanClouston syndrome  IAGPRGD:147188858554872ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasiaClinVarPMID:28492532
CRYL1HumanClouston syndrome  IAGPRGD:1564396028554872ClinVar Annotator: match by term: Hidrotic ectodermal dysplasiaClinVarPMID:27480936|PMID:28492532
CRYL1Humanectodermal dysplasia  IAGPRGD:147188858554872ClinVar Annotator: match by term: Hidrotic ectodermal dysplasiaClinVarPMID:28492532
CRYL1Humanectodermal dysplasia  IAGPRGD:1564396028554872ClinVar Annotator: match by term: Hidrotic ectodermal dysplasiaClinVarPMID:27480936|PMID:28492532
CRYL1Humannonsyndromic deafness  IAGPRGD:408159748554872ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafnessClinVarPMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:19047647|PMID:22098503|PMID:24158611|PMID:28823936|PMID:30311386
CRYL1Humannonsyndromic deafness  IAGPRGD:408159758554872ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafnessClinVarPMID:11807148|PMID:12917317|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:28823936|PMID:30311386
1 to 18 of 18 rows
Object Symbol
Species
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Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
CRYL1Humanperinatal necrotizing enterocolitis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18806098
CRYL1HumanProstatic Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:17013881

1 to 20 of 135 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CRYL1Human(1->4)-beta-D-glucan multiple interactionsISORGD:7355696480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of CRYL1 mRNACTDPMID:36331819
CRYL1Human1,1-dichloroethene decreases expressionISORGD:7355696480464vinylidene chloride results in decreased expression of CRYL1 mRNACTDPMID:26682919
CRYL1Human1,2-dichloroethane decreases expressionISORGD:7355696480464ethylene dichloride results in decreased expression of CRYL1 mRNACTDPMID:28960355
CRYL1Human1,2-dimethylhydrazine decreases expressionISORGD:73556964804641,2-Dimethylhydrazine results in decreased expression of CRYL1 mRNACTDPMID:22206623
CRYL1Human1,2-dimethylhydrazine multiple interactionsISORGD:7355696480464[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of CRYL1 mRNACTDPMID:22206623
CRYL1Human17alpha-ethynylestradiol increases expressionISORGD:7355696480464Ethinyl Estradiol results in increased expression of CRYL1 mRNACTDPMID:17942748
CRYL1Human17alpha-ethynylestradiol multiple interactionsISORGD:7355696480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CRYL1 mRNACTDPMID:17942748
CRYL1Human17beta-estradiol decreases expressionISORGD:6314276480464Estradiol results in decreased expression of CRYL1 mRNACTDPMID:32145629
CRYL1Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsEXP 6480464[Tetrachlorodibenzodioxin co-treated with Cycloheximide] results in increased expression of CRYL1 mRNACTDPMID:19684285
CRYL1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of CRYL1 mRNACTDPMID:19684285|PMID:20106945|PMID:21632981
CRYL1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:7355696480464Tetrachlorodibenzodioxin affects the expression of CRYL1 mRNACTDPMID:21570461
CRYL1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISORGD:6314276480464Tetrachlorodibenzodioxin results in decreased expression of CRYL1 mRNACTDPMID:21215274
CRYL1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:6314276480464Tetrachlorodibenzodioxin results in increased expression of CRYL1 mRNACTDPMID:20558275|PMID:32109520|PMID:33387578
CRYL1Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISORGD:7355696480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CRYL1 mRNACTDPMID:17942748
CRYL1Human2,4,6-trinitrotoluene affects expressionISORGD:6314276480464Trinitrotoluene affects the expression of CRYL1 mRNACTDPMID:21346803
CRYL1Human2-acetamidofluorene multiple interactionsISORGD:6314276480464[2-Acetylaminofluorene co-treated with Diethylnitrosamine] results in increased expression of CRYL1 mRNA; [Diethylnitrosamine co-treated with 2-Acetylaminofluorene] more ...CTDPMID:14656948|PMID:16158176
CRYL1Human2-amino-4,6-dinitrotoluene affects expressionISORGD:63142764804642-amino-4,6-dinitrotoluene affects the expression of CRYL1 mRNACTDPMID:21346803
CRYL1Human2-hydroxypropanoic acid decreases expressionEXP 6480464Lactic Acid results in decreased expression of CRYL1 mRNACTDPMID:30851411
CRYL1Human3,3',4,4',5-pentachlorobiphenyl decreases expressionISORGD:63142764804643,4,5,3',4'-pentachlorobiphenyl results in decreased expression of CRYL1 mRNACTDPMID:23196670
CRYL1Human3-chloropropane-1,2-diol increases expressionISORGD:6314276480464alpha-Chlorohydrin results in increased expression of CRYL1 mRNACTDPMID:28522335

1 to 20 of 135 rows

Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CRYL1HumanD-glucuronate catabolic process to D-xylulose 5-phosphate involved_inIEAUniProtKB:Q99KP3|ensembl:ENSMUSP00000022517150520179 EnsemblGO_REF:0000107
CRYL1Humanfatty acid metabolic process involved_inIEAInterPro:IPR006108|InterPro:IPR006176|InterPro:IPR006180|InterPro:IPR022694150520179 InterProGO_REF:0000002

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CRYL1Humancytoplasm located_inIEAUniProtKB-SubCell:SL-0086150520179 UniProtGO_REF:0000044
CRYL1Humancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
CRYL1Humancytosol located_inISSUniProtKB:P14755150520179 UniProtGO_REF:0000024
CRYL1Humancytosol is_active_inIEAUniProtKB:Q99KP3|ensembl:ENSMUSP00000022517150520179 EnsemblGO_REF:0000107
CRYL1Humancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-5661290
CRYL1Humanextracellular exosome located_inHDA 150520179 PMID:19056867, PMID:23533145UniProtPMID:19056867|PMID:23533145

Molecular Function
1 to 10 of 10 rows

  
Object Symbol
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Term
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Reference
Notes
Source
Original Reference(s)
CRYL1HumanL-gulonate 3-dehydrogenase activity enablesIEARHEA:12889150520179 RHEAGO_REF:0000116
CRYL1HumanL-gulonate 3-dehydrogenase activity enablesIBAFB:FBgn0286508|PANTHER:PTN000592731|UniProtKB:Q9Y2S2150520179 GO_CentralGO_REF:0000033
CRYL1HumanL-gulonate 3-dehydrogenase activity enablesIDA 150520179 PMID:15809331UniProtPMID:15809331
CRYL1HumanL-gulonate 3-dehydrogenase activity enablesIEAEC:1.1.1.45150520179 UniProtGO_REF:0000003
CRYL1HumanNAD+ binding enablesIDA 150520179 PMID:15809331UniProtPMID:15809331
CRYL1HumanNAD+ binding enablesIEAInterPro:IPR006176|InterPro:IPR022694150520179 InterProGO_REF:0000002
CRYL1Humanoxidoreductase activity enablesIEAInterPro:IPR006108|InterPro:IPR006180150520179 InterProGO_REF:0000002
CRYL1Humanoxidoreductase activity enablesIEAUniProtKB-KW:KW-0560150520179 UniProtGO_REF:0000043
CRYL1Humanoxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor enablesIEAInterPro:IPR006108|InterPro:IPR006180|InterPro:IPR022694150520179 InterProGO_REF:0000002
CRYL1Humanprotein homodimerization activity enablesIPIUniProtKB:Q9Y2S2150520179 PMID:15809331UniProtPMID:15809331
1 to 10 of 10 rows

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CRYL1Humanpentose and glucuronate interconversion pathway  IEA 6907045 KEGGhsa:00040
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CRYL1HumanHidrotic ectodermal dysplasia  IAGPRGD:147188858554872ClinVar Annotator: match by term: Hidrotic ectodermal dysplasiaClinVarPMID:28492532
CRYL1HumanHidrotic ectodermal dysplasia  IAGPRGD:1564396028554872ClinVar Annotator: match by term: Hidrotic ectodermal dysplasiaClinVarPMID:27480936|PMID:28492532

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:3170592   PMID:12477932   PMID:12527201   PMID:14702039   PMID:15057823   PMID:15809331   PMID:19056867   PMID:19322201   PMID:21873635   PMID:21988832   PMID:23251661   PMID:23376485  
PMID:23533145   PMID:23648065   PMID:27684187   PMID:28489570   PMID:28514442   PMID:31182584   PMID:33961781   PMID:35831314   PMID:35914814   PMID:36215168   PMID:37683890  



CRYL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,403,669 - 20,525,857 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1320,403,666 - 20,525,873 (-)EnsemblGRCh38hg38GRCh38
GRCh371320,977,808 - 21,099,996 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,875,806 - 19,998,012 (-)NCBINCBI36Build 36hg18NCBI36
Build 341319,875,812 - 19,997,943NCBI
Celera132,039,633 - 2,161,963 (-)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef131,781,253 - 1,903,750 (-)NCBIHuRef
CHM1_11320,946,082 - 21,068,258 (-)NCBICHM1_1
T2T-CHM13v2.01319,596,766 - 19,719,067 (-)NCBIT2T-CHM13v2.0
Cryl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391457,512,491 - 57,635,940 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1457,512,450 - 57,635,986 (-)EnsemblGRCm39 Ensembl
GRCm381457,275,034 - 57,398,483 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1457,274,993 - 57,398,529 (-)EnsemblGRCm38mm10GRCm38
MGSCv371457,893,871 - 58,017,320 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361456,229,144 - 56,352,593 (-)NCBIMGSCv36mm8
Celera1455,069,601 - 55,193,438 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1430.1NCBI
Cryl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81535,542,628 - 35,661,563 (-)NCBIGRCr8
mRatBN7.21531,427,011 - 31,545,997 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,427,054 - 31,545,997 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1533,418,360 - 33,537,311 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01534,569,025 - 34,687,978 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01532,827,144 - 32,946,073 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01537,543,727 - 37,663,586 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,543,727 - 37,663,584 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01541,389,673 - 41,509,443 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41536,320,075 - 36,440,579 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11536,335,774 - 36,456,279 (-)NCBI
Celera1531,137,966 - 31,257,153 (-)NCBICelera
Cytogenetic Map15p12NCBI
Cryl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554971,182,115 - 1,292,721 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554971,183,707 - 1,316,720 (-)NCBIChiLan1.0ChiLan1.0
CRYL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21420,032,859 - 20,155,259 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11311,145,280 - 11,267,611 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0131,729,724 - 1,852,031 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11320,043,630 - 20,165,344 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1320,043,630 - 20,165,344 (-)Ensemblpanpan1.1panPan2
CRYL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12517,551,586 - 17,733,754 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2517,562,926 - 17,733,630 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2517,619,089 - 17,764,441 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02517,726,192 - 17,871,609 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2517,700,683 - 17,871,604 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12517,597,124 - 17,742,462 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02517,608,651 - 17,753,939 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02517,665,268 - 17,810,580 (+)NCBIUU_Cfam_GSD_1.0
Cryl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945119,654,108 - 119,786,851 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367201,201,697 - 1,334,527 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367201,201,725 - 1,334,483 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRYL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl11845,475 - 931,648 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.111845,471 - 925,849 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2115,725 - 138,292 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CRYL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.13567,937 - 704,109 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl3567,931 - 688,388 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605743,881,123 - 44,023,426 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cryl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477617,127,002 - 17,312,348 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477617,127,362 - 17,312,271 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in CRYL1
96 total Variants

1 to 10 of 219 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|See cases [RCV000051347] Chr13:19837195..22574567 [GRCh38]
Chr13:20411335..23148706 [GRCh37]
Chr13:19309335..22046706 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1 copy number loss See cases [RCV000051348] Chr13:20026650..21967789 [GRCh38]
Chr13:20600790..22541928 [GRCh37]
Chr13:19498790..21439928 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11(chr13:20249154-20521759)x1 copy number loss See cases [RCV000051349] Chr13:20249154..20521759 [GRCh38]
Chr13:20823293..21095898 [GRCh37]
Chr13:19721293..19993898 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] Chr13:19837395..24884509 [GRCh38]
Chr13:20411535..25458647 [GRCh37]
Chr13:19309535..24356647 [NCBI36]
Chr13:13q12.11-12.12		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|See cases [RCV000053733] Chr13:19837395..22904755 [GRCh38]
Chr13:20411535..23478894 [GRCh37]
Chr13:19309535..22376894 [NCBI36]
Chr13:13q12.11-12.12		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
1 to 10 of 219 rows

Predicted Target Of
Summary Value
Count of predictions:851
Count of miRNA genes:375
Interacting mature miRNAs:406
Transcripts:ENST00000298248, ENST00000382812, ENST00000480748
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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597491068GWAS1587142_HCOVID-19 QTL GWAS1587142 (human)9e-10COVID-19132043184820431849Human
597147987GWAS1244061_HCOVID-19 QTL GWAS1244061 (human)5e-08COVID-19132043274620432747Human
597264849GWAS1360923_HProteinuria QTL GWAS1360923 (human)2e-08Proteinuria132046346920463470Human
407046315GWAS695291_Hbody mass index QTL GWAS695291 (human)0.000005body mass indexbody mass index (BMI) (CMO:0000105)132051946520519466Human
597144653GWAS1240727_HCOVID-19 QTL GWAS1240727 (human)2e-14COVID-19132043021220430213Human
407028616GWAS677592_Hresponse to carboplatin, response to antineoplastic agent QTL GWAS677592 (human)0.000005response to carboplatin, response to antineoplastic agent132047643620476437Human
597329415GWAS1425489_Hbreast cancer QTL GWAS1425489 (human)0.0000006breast cancer132046500320465004Human
597278486GWAS1374560_Hmannonate measurement QTL GWAS1374560 (human)4e-13mannonate measurement132046307920463080Human

WI-11739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371321,004,917 - 21,005,043UniSTSGRCh37
Build 361319,902,917 - 19,903,043RGDNCBI36
Celera132,066,765 - 2,066,891RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,808,382 - 1,808,508UniSTS
GeneMap99-GB4 RH Map1336.74UniSTS
NCBI RH Map1323.9UniSTS
RH123328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371320,980,218 - 20,980,537UniSTSGRCh37
Build 361319,878,218 - 19,878,537RGDNCBI36
Celera132,042,045 - 2,042,364RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,783,665 - 1,783,984UniSTS
TNG Radiation Hybrid Map13660.0UniSTS
D13S931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371320,988,433 - 20,988,564UniSTSGRCh37
Build 361319,886,433 - 19,886,564RGDNCBI36
Celera132,050,260 - 2,050,391RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,791,878 - 1,792,009UniSTS
D13S1023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371321,018,346 - 21,018,466UniSTSGRCh37
Build 361319,916,346 - 19,916,466RGDNCBI36
Celera132,080,196 - 2,080,316RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,821,813 - 1,821,933UniSTS
G64213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371321,100,704 - 21,100,959UniSTSGRCh37
Build 361319,998,704 - 19,998,959RGDNCBI36
Celera132,162,655 - 2,162,910RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,904,442 - 1,904,697UniSTS
SHGC-107200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371321,007,363 - 21,007,638UniSTSGRCh37
Build 361319,905,363 - 19,905,638RGDNCBI36
Celera132,069,211 - 2,069,486RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,810,828 - 1,811,103UniSTS
TNG Radiation Hybrid Map13653.0UniSTS
G23580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371320,977,861 - 20,977,964UniSTSGRCh37
Build 361319,875,861 - 19,875,964RGDNCBI36
Celera132,039,688 - 2,039,791RGD
Cytogenetic Map13q12.11UniSTS
HuRef131,781,308 - 1,781,411UniSTS




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 2438 2788 2248 4972 1726 2350 6 624 1936 465 2270 7295 6462 53 3731 1 852 1744 1616 175 1


1 to 22 of 22 rows
RefSeq Transcripts NM_001363647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF077049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF160216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 22 of 22 rows

Ensembl Acc Id: ENST00000298248   ⟹   ENSP00000298248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,669 - 20,525,857 (-)Ensembl
Ensembl Acc Id: ENST00000382812   ⟹   ENSP00000372262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,671 - 20,525,857 (-)Ensembl
Ensembl Acc Id: ENST00000480748   ⟹   ENSP00000479908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,426,695 - 20,489,436 (-)Ensembl
Ensembl Acc Id: ENST00000643035   ⟹   ENSP00000496154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,666 - 20,525,819 (-)Ensembl
Ensembl Acc Id: ENST00000643750   ⟹   ENSP00000493818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,674 - 20,525,873 (-)Ensembl
Ensembl Acc Id: ENST00000643887   ⟹   ENSP00000495342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,740 - 20,525,825 (-)Ensembl
Ensembl Acc Id: ENST00000644153   ⟹   ENSP00000494794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,702 - 20,525,803 (-)Ensembl
Ensembl Acc Id: ENST00000644167   ⟹   ENSP00000494114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,863 - 20,525,826 (-)Ensembl
Ensembl Acc Id: ENST00000644593   ⟹   ENSP00000493784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,667 - 20,525,865 (-)Ensembl
Ensembl Acc Id: ENST00000644872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,403,670 - 20,502,498 (-)Ensembl
Ensembl Acc Id: ENST00000645525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,431,618 - 20,439,904 (-)Ensembl
Ensembl Acc Id: ENST00000646414   ⟹   ENSP00000495054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1320,489,477 - 20,525,857 (-)Ensembl
RefSeq Acc Id: NM_001363647   ⟹   NP_001350576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381320,403,669 - 20,525,857 (-)NCBI
T2T-CHM13v2.01319,596,766 - 19,719,067 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015974   ⟹   NP_057058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381320,403,669 - 20,525,857 (-)NCBI
GRCh371320,977,806 - 21,100,012 (-)RGD
GRCh371320,977,806 - 21,100,012 (-)NCBI
Build 361319,875,806 - 19,998,012 (-)NCBI Archive
Celera132,039,633 - 2,161,963 (-)RGD
HuRef131,781,253 - 1,903,750 (-)RGD
CHM1_11320,946,082 - 21,068,258 (-)NCBI
T2T-CHM13v2.01319,596,766 - 19,719,067 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266416   ⟹   XP_005266473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381320,426,635 - 20,525,857 (-)NCBI
GRCh371320,977,806 - 21,100,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054374598   ⟹   XP_054230573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01319,619,774 - 19,719,067 (-)NCBI
1 to 5 of 14 rows
1 to 5 of 14 rows
RefSeq Acc Id: NP_057058   ⟸   NM_015974
- Peptide Label: isoform 1
- UniProtKB: Q7Z4Z9 (UniProtKB/Swiss-Prot),   Q0VDI1 (UniProtKB/Swiss-Prot),   B3KN92 (UniProtKB/Swiss-Prot),   A0PJ43 (UniProtKB/Swiss-Prot),   Q9P0G7 (UniProtKB/Swiss-Prot),   Q9Y2S2 (UniProtKB/Swiss-Prot),   V9HWG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266473   ⟸   XM_005266416
- Peptide Label: isoform X1
- UniProtKB: A0A2R8YFQ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350576   ⟸   NM_001363647
- Peptide Label: isoform 2
- UniProtKB: A0A2R8Y4K2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000298248   ⟸   ENST00000298248
Ensembl Acc Id: ENSP00000479908   ⟸   ENST00000480748
3-hydroxyacyl-CoA dehydrogenase C-terminal   3-hydroxyacyl-CoA dehydrogenase NAD binding

Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2S2-F1-model_v2 AlphaFold Q9Y2S2 1-319 view protein structure

RGD ID:6790765
Promoter ID:HG_KWN:17200
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015974,   UC001UNF.1,   UC001UNG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361319,997,876 - 19,998,376 (-)MPROMDB
RGD ID:6852160
Promoter ID:EP73886
Type:initiation region
Name:HS_CRYL1
Description:Crystallin, lambda 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361319,997,996 - 19,998,056EPD
RGD ID:7225973
Promoter ID:EPDNEW_H18732
Type:initiation region
Name:CRYL1_1
Description:crystallin lambda 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
GRCh381320,525,857 - 20,525,917EPDNEW


1 to 40 of 52 rows
Database
Acc Id
Source(s)
COSMIC CRYL1 COSMIC
Ensembl Genes ENSG00000165475 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000298248 ENTREZGENE
  ENST00000298248.12 UniProtKB/Swiss-Prot
  ENST00000382812.5 UniProtKB/Swiss-Prot
  ENST00000643750.1 UniProtKB/Swiss-Prot
  ENST00000643887 ENTREZGENE
  ENST00000644593 ENTREZGENE
Gene3D-CATH N-(1-d-carboxylethyl)-l-norvaline Dehydrogenase, domain 2 UniProtKB/Swiss-Prot
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot
GTEx ENSG00000165475 GTEx
HGNC ID HGNC:18246 ENTREZGENE
Human Proteome Map CRYL1 Human Proteome Map
InterPro 3-OHacyl-CoA_DH UniProtKB/Swiss-Prot
  3-OHacyl-CoA_DH_CS UniProtKB/Swiss-Prot
  3-OHacyl-CoA_DH_NAD-bd UniProtKB/Swiss-Prot
  3HC_DH_C UniProtKB/Swiss-Prot
  6-PGluconate_DH-like_C_sf UniProtKB/Swiss-Prot
  6PGD_dom2 UniProtKB/Swiss-Prot
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:51084 UniProtKB/Swiss-Prot
NCBI Gene 51084 ENTREZGENE
OMIM 609877 OMIM
PANTHER 3-HYDROXYACYL-COA DEHYDROGENASE FAMILY PROTEIN UniProtKB/Swiss-Prot
  LAMBDA-CRYSTALLIN HOMOLOG UniProtKB/Swiss-Prot
Pfam 3HCDH UniProtKB/Swiss-Prot
  3HCDH_N UniProtKB/Swiss-Prot
PharmGKB PA26923 PharmGKB
PIRSF HCDH UniProtKB/Swiss-Prot
PROSITE 3HCDH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48179 UniProtKB/Swiss-Prot
  SSF51735 UniProtKB/Swiss-Prot
UniProt A0A087WW38_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4K2 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y5S5_HUMAN UniProtKB/TrEMBL
  A0A2R8Y699_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7B4_HUMAN UniProtKB/TrEMBL
  A0A2R8YCZ4_HUMAN UniProtKB/TrEMBL
  A0A2R8YFQ7 ENTREZGENE, UniProtKB/TrEMBL
  A0PJ43 ENTREZGENE
1 to 40 of 52 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CRYL1  crystallin lambda 1  CRYL1  crystallin, lambda 1  Symbol and/or name change 5135510 APPROVED