KLHL33 (kelch like family member 33) - Rat Genome Database

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Gene: KLHL33 (kelch like family member 33) Homo sapiens
Analyze
Symbol: KLHL33
Name: kelch like family member 33
RGD ID: 1642111
HGNC Page HGNC:31952
Description: INTERACTS WITH aflatoxin B1; benzo[a]pyrene; bisphenol A
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: kelch-like 33; kelch-like family member 33; kelch-like protein 33
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
GRCh381420,425,852 - 20,436,166 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1420,425,852 - 20,436,166 (-)EnsemblGRCh38hg38GRCh38
GRCh371420,894,011 - 20,904,325 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361419,966,848 - 19,973,895 (-)NCBINCBI36Build 36hg18NCBI36
Celera14758,117 - 764,951 (-)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef141,018,704 - 1,025,556 (-)NCBIHuRef
CHM1_11420,898,350 - 20,905,181 (-)NCBICHM1_1
T2T-CHM13v2.01414,622,721 - 14,633,066 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16368877   PMID:23676014   PMID:28514442   PMID:33961781   PMID:36724073  


Genomics

Comparative Map Data
KLHL33
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381420,425,852 - 20,436,166 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1420,425,852 - 20,436,166 (-)EnsemblGRCh38hg38GRCh38
GRCh371420,894,011 - 20,904,325 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361419,966,848 - 19,973,895 (-)NCBINCBI36Build 36hg18NCBI36
Celera14758,117 - 764,951 (-)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef141,018,704 - 1,025,556 (-)NCBIHuRef
CHM1_11420,898,350 - 20,905,181 (-)NCBICHM1_1
T2T-CHM13v2.01414,622,721 - 14,633,066 (-)NCBIT2T-CHM13v2.0
Klhl33
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391451,126,038 - 51,134,940 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1451,126,039 - 51,134,964 (-)EnsemblGRCm39 Ensembl
GRCm381450,888,581 - 50,897,483 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1450,888,582 - 50,897,507 (-)EnsemblGRCm38mm10GRCm38
MGSCv371451,511,064 - 51,512,930 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361449,813,340 - 49,815,206 (-)NCBIMGSCv36mm8
Celera1447,180,595 - 47,182,461 (-)NCBICelera
Cytogenetic Map14C1NCBI
cM Map1426.29NCBI
Klhl33
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81526,579,473 - 26,589,766 (-)NCBIGRCr8
mRatBN7.21524,105,923 - 24,114,445 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1524,105,930 - 24,114,438 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01527,811,226 - 27,819,808 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1527,813,393 - 27,815,261 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01531,643,651 - 31,652,183 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41526,866,635 - 26,873,521 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1524,426,061 - 24,434,643 (-)NCBICelera
Cytogenetic Map15p14NCBI
Klhl33
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555501,240,038 - 1,246,438 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555501,239,143 - 1,247,570 (-)NCBIChiLan1.0ChiLan1.0
KLHL33
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21521,935,142 - 21,945,395 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11421,151,629 - 21,161,848 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0141,300,170 - 1,310,407 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11419,355,040 - 19,362,410 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1419,355,040 - 19,362,410 (-)Ensemblpanpan1.1panPan2
KLHL33
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11517,761,382 - 17,764,295 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1518,245,742 - 18,254,545 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01518,019,796 - 18,028,620 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11517,702,754 - 17,713,453 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01517,757,367 - 17,766,156 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01517,886,503 - 17,895,307 (-)NCBIUU_Cfam_GSD_1.0
Klhl33
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864077,649,713 - 77,670,866 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936877629,912 - 638,933 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936877630,870 - 638,957 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLHL33
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl778,470,321 - 78,479,959 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1778,470,250 - 78,479,963 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2783,498,590 - 83,508,302 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLHL33
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12920,942,839 - 20,954,113 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2920,943,234 - 20,945,059 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605925,470,448 - 25,478,906 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Klhl33
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248254,741,121 - 4,742,944 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248254,735,443 - 4,744,052 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KLHL33
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3 copy number gain not specified [RCV003987062] Chr14:20511672..20903963 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 copy number loss See cases [RCV000051483] Chr14:19755249..22741281 [GRCh38]
Chr14:20223408..23210490 [GRCh37]
Chr14:19293248..22280330 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 copy number gain See cases [RCV000053804] Chr14:20127290..21376436 [GRCh38]
Chr14:20595449..21844595 [GRCh37]
Chr14:19665289..20914435 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 copy number gain See cases [RCV000050914] Chr14:20151149..23442195 [GRCh38]
Chr14:20619308..23911404 [GRCh37]
Chr14:19689148..22981244 [NCBI36]
Chr14:14q11.2		 pathogenic
NM_001109997.2(KLHL33):c.905G>A (p.Trp302Ter) single nucleotide variant Malignant melanoma [RCV000070470] Chr14:20429646 [GRCh38]
Chr14:20897805 [GRCh37]
Chr14:19967645 [NCBI36]
Chr14:14q11.2		 not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2(chr14:20731947-20971784)x3 copy number gain not provided [RCV000750936] Chr14:20731947..20971784 [GRCh37]
Chr14:14q11.2		 benign
GRCh37/hg19 14q11.2(chr14:20743269-20969733)x3 copy number gain not provided [RCV000750937] Chr14:20743269..20969733 [GRCh37]
Chr14:14q11.2		 benign
GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3 copy number gain not provided [RCV000846276] Chr14:20511672..21174548 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3 copy number gain not provided [RCV000848234] Chr14:20511672..20903963 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1 copy number loss not provided [RCV001259176] Chr14:20511672..21915516 [GRCh37]
Chr14:14q11.2		 pathogenic
NC_000014.9:g.20013858_20436718dup duplication 14q11.2 microduplication syndrome [RCV001837230] Chr14:20013858..20436718 [GRCh38]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2(chr14:20664697-21017250) copy number gain not specified [RCV002053087] Chr14:20664697..21017250 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_001365790.2(KLHL33):c.1985G>A (p.Gly662Glu) single nucleotide variant not specified [RCV004110483] Chr14:20429258 [GRCh38]
Chr14:20897417 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1213C>T (p.Arg405Trp) single nucleotide variant not specified [RCV004090998] Chr14:20430255 [GRCh38]
Chr14:20898414 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1835T>C (p.Val612Ala) single nucleotide variant not specified [RCV004218706] Chr14:20429508 [GRCh38]
Chr14:20897667 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1643G>A (p.Ser548Asn) single nucleotide variant not specified [RCV004097512] Chr14:20429825 [GRCh38]
Chr14:20897984 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1 copy number loss not provided [RCV002474574] Chr14:20690196..23114522 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_001365790.2(KLHL33):c.2290C>A (p.Leu764Met) single nucleotide variant not specified [RCV004224595] Chr14:20428953 [GRCh38]
Chr14:20897112 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1310G>A (p.Arg437Gln) single nucleotide variant not specified [RCV004187139] Chr14:20430158 [GRCh38]
Chr14:20898317 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1151C>T (p.Ala384Val) single nucleotide variant not specified [RCV004106267] Chr14:20430317 [GRCh38]
Chr14:20898476 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1223T>C (p.Leu408Pro) single nucleotide variant not specified [RCV004139283] Chr14:20430245 [GRCh38]
Chr14:20898404 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1481G>A (p.Arg494Gln) single nucleotide variant not specified [RCV004224397] Chr14:20429987 [GRCh38]
Chr14:20898146 [GRCh37]
Chr14:14q11.2		 likely benign
NM_001365790.2(KLHL33):c.1105G>C (p.Val369Leu) single nucleotide variant not specified [RCV004201041] Chr14:20430363 [GRCh38]
Chr14:20898522 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2068C>A (p.Leu690Met) single nucleotide variant not specified [RCV004150599] Chr14:20429175 [GRCh38]
Chr14:20897334 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1402C>T (p.Arg468Trp) single nucleotide variant not specified [RCV004180209] Chr14:20430066 [GRCh38]
Chr14:20898225 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1592C>T (p.Ala531Val) single nucleotide variant not specified [RCV004158015] Chr14:20429876 [GRCh38]
Chr14:20898035 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1678G>A (p.Glu560Lys) single nucleotide variant not specified [RCV004212479] Chr14:20429665 [GRCh38]
Chr14:20897824 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1885G>A (p.Ala629Thr) single nucleotide variant not specified [RCV004126224] Chr14:20429358 [GRCh38]
Chr14:20897517 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2270G>A (p.Arg757Gln) single nucleotide variant not specified [RCV004158814] Chr14:20428973 [GRCh38]
Chr14:20897132 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1982C>T (p.Pro661Leu) single nucleotide variant not specified [RCV004103070] Chr14:20429261 [GRCh38]
Chr14:20897420 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1474C>T (p.Pro492Ser) single nucleotide variant not specified [RCV004135462] Chr14:20429994 [GRCh38]
Chr14:20898153 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1787A>G (p.Asn596Ser) single nucleotide variant not specified [RCV004245314] Chr14:20429556 [GRCh38]
Chr14:20897715 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1765T>A (p.Tyr589Asn) single nucleotide variant not specified [RCV004228978] Chr14:20429578 [GRCh38]
Chr14:20897737 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1192T>A (p.Phe398Ile) single nucleotide variant not specified [RCV004077061] Chr14:20430276 [GRCh38]
Chr14:20898435 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1091C>T (p.Thr364Ile) single nucleotide variant not specified [RCV004199730] Chr14:20430377 [GRCh38]
Chr14:20898536 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2105A>G (p.Tyr702Cys) single nucleotide variant not specified [RCV004115783] Chr14:20429138 [GRCh38]
Chr14:20897297 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1568C>T (p.Pro523Leu) single nucleotide variant not specified [RCV004107321] Chr14:20429900 [GRCh38]
Chr14:20898059 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2015G>A (p.Arg672Gln) single nucleotide variant not specified [RCV004233884] Chr14:20429228 [GRCh38]
Chr14:20897387 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1288C>T (p.Arg430Cys) single nucleotide variant not specified [RCV004236970] Chr14:20430180 [GRCh38]
Chr14:20898339 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2213G>A (p.Ser738Asn) single nucleotide variant not specified [RCV004103553] Chr14:20429030 [GRCh38]
Chr14:20897189 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1390G>A (p.Gly464Ser) single nucleotide variant not specified [RCV004211208] Chr14:20430078 [GRCh38]
Chr14:20898237 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1271G>A (p.Arg424Gln) single nucleotide variant not specified [RCV004083702] Chr14:20430197 [GRCh38]
Chr14:20898356 [GRCh37]
Chr14:14q11.2		 likely benign
NM_001365790.2(KLHL33):c.1309C>T (p.Arg437Trp) single nucleotide variant not specified [RCV004183091] Chr14:20430159 [GRCh38]
Chr14:20898318 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1042G>A (p.Ala348Thr) single nucleotide variant not specified [RCV004183255] Chr14:20430426 [GRCh38]
Chr14:20898585 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2279G>T (p.Cys760Phe) single nucleotide variant not specified [RCV004289480] Chr14:20428964 [GRCh38]
Chr14:20897123 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1279C>T (p.Arg427Cys) single nucleotide variant not specified [RCV004258795] Chr14:20430189 [GRCh38]
Chr14:20898348 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1318C>T (p.Arg440Trp) single nucleotide variant not specified [RCV004249790] Chr14:20430150 [GRCh38]
Chr14:20898309 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2155C>A (p.His719Asn) single nucleotide variant not specified [RCV004284042] Chr14:20429088 [GRCh38]
Chr14:20897247 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.892G>A (p.Gly298Arg) single nucleotide variant not specified [RCV004276553] Chr14:20430576 [GRCh38]
Chr14:20898735 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.902G>A (p.Arg301Gln) single nucleotide variant not specified [RCV004325298] Chr14:20430566 [GRCh38]
Chr14:20898725 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1469G>C (p.Arg490Thr) single nucleotide variant not specified [RCV004327559] Chr14:20429999 [GRCh38]
Chr14:20898158 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1426G>A (p.Val476Ile) single nucleotide variant not specified [RCV004342169] Chr14:20430042 [GRCh38]
Chr14:20898201 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2219G>A (p.Arg740His) single nucleotide variant not provided [RCV003400572] Chr14:20429024 [GRCh38]
Chr14:20897183 [GRCh37]
Chr14:14q11.2		 likely benign
NM_001365790.2(KLHL33):c.1503C>A (p.Ala501=) single nucleotide variant not provided [RCV003400573] Chr14:20429965 [GRCh38]
Chr14:20898124 [GRCh37]
Chr14:14q11.2		 likely benign
NM_001365790.2(KLHL33):c.1832A>C (p.Asn611Thr) single nucleotide variant not specified [RCV004346798] Chr14:20429511 [GRCh38]
Chr14:20897670 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_001365790.2(KLHL33):c.958T>C (p.Ser320Pro) single nucleotide variant not specified [RCV004409477] Chr14:20430510 [GRCh38]
Chr14:20898669 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.2386G>T (p.Ala796Ser) single nucleotide variant not specified [RCV004409476] Chr14:20428857 [GRCh38]
Chr14:20897016 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1832A>G (p.Asn611Ser) single nucleotide variant not specified [RCV004409474] Chr14:20429511 [GRCh38]
Chr14:20897670 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1498C>T (p.Arg500Trp) single nucleotide variant not specified [RCV004409482] Chr14:20429970 [GRCh38]
Chr14:20898129 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.845C>T (p.Thr282Met) single nucleotide variant not specified [RCV004409479] Chr14:20430623 [GRCh38]
Chr14:20898782 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1358T>C (p.Leu453Ser) single nucleotide variant not specified [RCV004409480] Chr14:20430110 [GRCh38]
Chr14:20898269 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1481G>C (p.Arg494Pro) single nucleotide variant not specified [RCV004409481] Chr14:20429987 [GRCh38]
Chr14:20898146 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1079A>G (p.His360Arg) single nucleotide variant not specified [RCV004409478] Chr14:20430389 [GRCh38]
Chr14:20898548 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1507C>T (p.Arg503Cys) single nucleotide variant not specified [RCV004409483] Chr14:20429961 [GRCh38]
Chr14:20898120 [GRCh37]
Chr14:14q11.2		 likely benign
NM_001365790.2(KLHL33):c.866G>T (p.Arg289Leu) single nucleotide variant not specified [RCV004409484] Chr14:20430602 [GRCh38]
Chr14:20898761 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1580G>A (p.Arg527Gln) single nucleotide variant not specified [RCV004409486] Chr14:20429888 [GRCh38]
Chr14:20898047 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_001365790.2(KLHL33):c.1674G>A (p.Arg558=) single nucleotide variant not specified [RCV004409487] Chr14:20429669 [GRCh38]
Chr14:20897828 [GRCh37]
Chr14:14q11.2		 likely benign
NM_001365790.2(KLHL33):c.1775G>A (p.Gly592Asp) single nucleotide variant not specified [RCV004409488] Chr14:20429568 [GRCh38]
Chr14:20897727 [GRCh37]
Chr14:14q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:133
Count of miRNA genes:125
Interacting mature miRNAs:127
Transcripts:ENST00000344581
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 adipose tissue appendage entire extraembryonic component
High
Medium 1 5 404 409 1 5 2 1 404
Low 1635 1007 637 84 475 11 1912 1435 1275 99 997 764 73 846 1352
Below cutoff 686 1823 935 416 1122 329 1877 302 2368 188 286 644 89 358 1025 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000344581   ⟹   ENSP00000341549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,428,811 - 20,435,642 (-)Ensembl
RefSeq Acc Id: ENST00000636854   ⟹   ENSP00000490040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,425,852 - 20,436,166 (-)Ensembl
RefSeq Acc Id: ENST00000637228   ⟹   ENSP00000489731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1420,425,870 - 20,435,811 (-)Ensembl
RefSeq Acc Id: NM_001109997   ⟹   NP_001103467
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381420,425,855 - 20,435,830 (-)NCBI
GRCh371420,895,866 - 20,904,354 (-)NCBI
Celera14758,117 - 764,951 (-)RGD
HuRef141,018,704 - 1,025,556 (-)RGD
CHM1_11420,898,350 - 20,905,181 (-)NCBI
T2T-CHM13v2.01414,622,724 - 14,632,730 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365790   ⟹   NP_001352719
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381420,425,852 - 20,436,166 (-)NCBI
T2T-CHM13v2.01414,622,721 - 14,633,066 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536450   ⟹   XP_011534752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381420,425,852 - 20,436,166 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054375429   ⟹   XP_054231404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01414,622,721 - 14,632,977 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001103467   ⟸   NM_001109997
- Peptide Label: isoform 2
- UniProtKB: A6NCF5 (UniProtKB/Swiss-Prot),   B2RUZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011534752   ⟸   XM_011536450
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GUB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352719   ⟸   NM_001365790
- Peptide Label: isoform 1
- UniProtKB: A0A1B0GUB7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000490040   ⟸   ENST00000636854
RefSeq Acc Id: ENSP00000489731   ⟸   ENST00000637228
RefSeq Acc Id: ENSP00000341549   ⟸   ENST00000344581
RefSeq Acc Id: XP_054231404   ⟸   XM_054375429
- Peptide Label: isoform X1
Protein Domains
BACK   BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NCF5-F1-model_v2 AlphaFold A6NCF5 1-533 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31952 AgrOrtholog
COSMIC KLHL33 COSMIC
Ensembl Genes ENSG00000185271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291793 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000344581 ENTREZGENE
  ENST00000344581.4 UniProtKB/Swiss-Prot
  ENST00000636854 ENTREZGENE
  ENST00000636854.3 UniProtKB/TrEMBL
  ENST00000637228.1 UniProtKB/TrEMBL
  ENST00000708773.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.120.10.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185271 GTEx
  ENSG00000291793 GTEx
HGNC ID HGNC:31952 ENTREZGENE
Human Proteome Map KLHL33 Human Proteome Map
InterPro BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB-kelch_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/TrEMBL
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KLHL33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:123103 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 123103 ENTREZGENE
PANTHER LD33804P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45632:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KLHL33-like_BTB_POZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162393579 PharmGKB
PIRSF Kelch-like_protein_gigaxonin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BTB UniProtKB/TrEMBL
SMART BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/TrEMBL
  Kelch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTK0_HUMAN UniProtKB/TrEMBL
  A0A1B0GUB7 ENTREZGENE, UniProtKB/TrEMBL
  A6NCF5 ENTREZGENE
  B2RUZ8 ENTREZGENE, UniProtKB/TrEMBL
  B9EKU7_HUMAN UniProtKB/TrEMBL
  KLH33_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 KLHL33  kelch like family member 33    kelch-like family member 33  Symbol and/or name change 5135510 APPROVED
2013-02-27 KLHL33  kelch-like family member 33    kelch-like 33 (Drosophila)  Symbol and/or name change 5135510 APPROVED