RHBDL3 (rhomboid like 3) - Rat Genome Database

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Gene: RHBDL3 (rhomboid like 3) Homo sapiens
Analyze
Symbol: RHBDL3
Name: rhomboid like 3
RGD ID: 1352464
HGNC Page HGNC:16502
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ45582; MGC119300; MGC119301; RHBDL4; rhomboid, veinlet-like 3; rhomboid, veinlet-like 3 (Drosophila); rhomboid, veinlet-like 4; rhomboid-related protein 3; ventrhoid transmembrane protein; VRHO
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381732,265,832 - 32,324,661 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1732,265,832 - 32,324,659 (+)EnsemblGRCh38hg38GRCh38
GRCh371730,592,851 - 30,651,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361727,617,308 - 27,675,793 (+)NCBINCBI36Build 36hg18NCBI36
Celera1727,503,536 - 27,561,889 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1726,782,764 - 26,838,459 (+)NCBIHuRef
CHM1_11730,655,694 - 30,714,172 (+)NCBICHM1_1
T2T-CHM13v2.01733,211,602 - 33,270,432 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
proteolysis  (IEA)

Cellular Component
membrane  (IEA)

Molecular Function

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:11900977   PMID:12477932   PMID:15489334   PMID:21873635   PMID:22035660   PMID:22795130   PMID:23369641   PMID:23562403   PMID:25062361   PMID:35436469  


Genomics

Comparative Map Data
RHBDL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381732,265,832 - 32,324,661 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1732,265,832 - 32,324,659 (+)EnsemblGRCh38hg38GRCh38
GRCh371730,592,851 - 30,651,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361727,617,308 - 27,675,793 (+)NCBINCBI36Build 36hg18NCBI36
Celera1727,503,536 - 27,561,889 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1726,782,764 - 26,838,459 (+)NCBIHuRef
CHM1_11730,655,694 - 30,714,172 (+)NCBICHM1_1
T2T-CHM13v2.01733,211,602 - 33,270,432 (+)NCBIT2T-CHM13v2.0
Rhbdl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,191,296 - 80,246,812 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,191,738 - 80,246,781 (+)EnsemblGRCm39 Ensembl
GRCm381180,300,471 - 80,355,986 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,300,912 - 80,355,955 (+)EnsemblGRCm38mm10GRCm38
MGSCv371180,114,414 - 80,169,488 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361180,117,271 - 80,172,150 (+)NCBIMGSCv36mm8
Celera1189,937,356 - 89,993,361 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1147.73NCBI
Rhbdl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81065,797,145 - 65,851,949 (+)NCBIGRCr8
mRatBN7.21065,299,250 - 65,354,099 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1065,299,194 - 65,354,099 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1069,927,814 - 69,982,382 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01069,433,113 - 69,487,682 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01064,896,807 - 64,951,358 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01067,676,999 - 67,731,670 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1067,677,071 - 67,731,670 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01067,333,731 - 67,387,701 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41068,525,172 - 68,579,955 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11068,538,794 - 68,591,860 (+)NCBI
Celera1064,260,010 - 64,314,177 (+)NCBICelera
Cytogenetic Map10q26NCBI
Rhbdl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554817,232,692 - 7,276,085 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554817,233,305 - 7,276,085 (+)NCBIChiLan1.0ChiLan1.0
RHBDL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21932,132,495 - 32,191,464 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11734,012,321 - 34,071,337 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01724,451,483 - 24,510,736 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11724,739,326 - 24,797,155 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1724,739,326 - 24,797,159 (-)Ensemblpanpan1.1panPan2
RHBDL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1940,629,989 - 40,676,369 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl940,633,277 - 40,675,234 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha939,788,915 - 39,835,852 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0941,446,671 - 41,493,639 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl941,446,696 - 41,493,627 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1940,232,275 - 40,279,204 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0940,526,390 - 40,573,535 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0940,601,234 - 40,648,166 (-)NCBIUU_Cfam_GSD_1.0
Rhbdl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560239,704,675 - 39,751,527 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365382,583,046 - 2,629,453 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365382,582,598 - 2,629,472 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHBDL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1242,627,456 - 42,676,900 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11242,623,648 - 42,676,312 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21244,387,594 - 44,417,991 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RHBDL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11625,835,300 - 25,894,497 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1625,835,428 - 25,894,871 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660754,151,058 - 4,211,199 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rhbdl3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624875343,478 - 392,374 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624875343,409 - 392,365 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHBDL3
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138328.2(RHBDL3):c.657C>T (p.Phe219=) single nucleotide variant Malignant melanoma [RCV000071401] Chr17:32294431 [GRCh38]
Chr17:30621450 [GRCh37]
Chr17:27645563 [NCBI36]
Chr17:17q11.2		 not provided
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 copy number loss See cases [RCV000143027] Chr17:28947825..32490020 [GRCh38]
Chr17:27274843..30817038 [GRCh37]
Chr17:24298969..27841151 [NCBI36]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2		 likely pathogenic
GRCh37/hg19 17q11.2(chr17:29782998-30651260)x1 copy number loss See cases [RCV000240147] Chr17:29782998..30651260 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.2(chr17:30131154-30594822)x1 copy number loss See cases [RCV000448285] Chr17:30131154..30594822 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)x1 copy number loss See cases [RCV000447945] Chr17:30497948..31819040 [GRCh37]
Chr17:17q11.2-12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1 copy number loss See cases [RCV000511107] Chr17:29578241..32142196 [GRCh37]
Chr17:17q11.2-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2		 drug response
GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3 copy number gain not provided [RCV000683916] Chr17:30484937..31108798 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_138328.3(RHBDL3):c.92T>C (p.Leu31Pro) single nucleotide variant Inborn genetic diseases [RCV003288851] Chr17:32266281 [GRCh38]
Chr17:30593300 [GRCh37]
Chr17:17q11.2		 likely benign
GRCh37/hg19 17q11.2(chr17:30443761-30620270)x3 copy number gain not provided [RCV000847922] Chr17:30443761..30620270 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
GRCh37/hg19 17q11.2-12(chr17:29989741-32355632) copy number loss Nanophthalmos 4 [RCV001260292] Chr17:29989741..32355632 [GRCh37]
Chr17:17q11.2-12		 pathogenic
GRCh37/hg19 17q11.2-12(chr17:30497948-31819040) copy number loss not specified [RCV002052592] Chr17:30497948..31819040 [GRCh37]
Chr17:17q11.2-12		 uncertain significance
NM_138328.3(RHBDL3):c.322C>G (p.Arg108Gly) single nucleotide variant Inborn genetic diseases [RCV003304728] Chr17:32288819 [GRCh38]
Chr17:30615838 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.308G>A (p.Arg103His) single nucleotide variant Inborn genetic diseases [RCV002729022] Chr17:32288805 [GRCh38]
Chr17:30615824 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.869C>A (p.Ala290Asp) single nucleotide variant Inborn genetic diseases [RCV002924387] Chr17:32305428 [GRCh38]
Chr17:30632447 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.347G>A (p.Arg116His) single nucleotide variant Inborn genetic diseases [RCV002919635] Chr17:32288844 [GRCh38]
Chr17:30615863 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.107A>C (p.Glu36Ala) single nucleotide variant Inborn genetic diseases [RCV002957005] Chr17:32266296 [GRCh38]
Chr17:30593315 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.1116G>T (p.Trp372Cys) single nucleotide variant Inborn genetic diseases [RCV002879389] Chr17:32321130 [GRCh38]
Chr17:30648149 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.298A>G (p.Ser100Gly) single nucleotide variant Inborn genetic diseases [RCV002964056] Chr17:32288795 [GRCh38]
Chr17:30615814 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.989C>T (p.Ser330Leu) single nucleotide variant Inborn genetic diseases [RCV002678874] Chr17:32321003 [GRCh38]
Chr17:30648022 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.962G>A (p.Arg321Gln) single nucleotide variant Inborn genetic diseases [RCV002723359] Chr17:32320976 [GRCh38]
Chr17:30647995 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.860C>T (p.Ala287Val) single nucleotide variant Inborn genetic diseases [RCV003219471] Chr17:32305419 [GRCh38]
Chr17:30632438 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.986C>T (p.Pro329Leu) single nucleotide variant Inborn genetic diseases [RCV003205673] Chr17:32321000 [GRCh38]
Chr17:30648019 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12		 pathogenic
NM_138328.3(RHBDL3):c.256G>A (p.Ala86Thr) single nucleotide variant Inborn genetic diseases [RCV003353764] Chr17:32284779 [GRCh38]
Chr17:30611798 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_138328.3(RHBDL3):c.1019T>C (p.Phe340Ser) single nucleotide variant Inborn genetic diseases [RCV003366923] Chr17:32321033 [GRCh38]
Chr17:30648052 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1 copy number loss not provided [RCV003483317] Chr17:28387597..30812008 [GRCh37]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17q11.2(chr17:30579124-30861865)x3 copy number gain not provided [RCV003485151] Chr17:30579124..30861865 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3 copy number gain not specified [RCV003987238] Chr17:29305509..31246638 [GRCh37]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1 copy number loss not specified [RCV003987216] Chr17:28277040..30903559 [GRCh37]
Chr17:17q11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5118
Count of miRNA genes:1183
Interacting mature miRNAs:1504
Transcripts:ENST00000269051, ENST00000431505, ENST00000536287, ENST00000538145, ENST00000578006, ENST00000582967
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.

Markers in Region
G30298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371730,651,531 - 30,651,663UniSTSGRCh37
Build 361727,675,644 - 27,675,776RGDNCBI36
Celera1727,561,740 - 27,561,872RGD
Cytogenetic Map17q11.2UniSTS
HuRef1726,838,310 - 26,838,442UniSTS
D17S1927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371730,651,406 - 30,651,556UniSTSGRCh37
Build 361727,675,519 - 27,675,669RGDNCBI36
Celera1727,561,615 - 27,561,765RGD
Cytogenetic Map17q11.2UniSTS
HuRef1726,838,185 - 26,838,335UniSTS
GeneMap99-GB4 RH Map17280.88UniSTS
Whitehead-RH Map17305.3UniSTS
Whitehead-YAC Contig Map17 UniSTS
RHBDL4__6922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371730,647,977 - 30,648,625UniSTSGRCh37
Build 361727,672,090 - 27,672,738RGDNCBI36
Celera1727,558,186 - 27,558,834RGD
HuRef1726,834,756 - 26,835,404UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 7 178 35 2 6 2 140 6 1098 5 28 38
Low 1838 622 925 84 325 30 1307 989 2288 142 1272 828 60 1 708 622 1
Below cutoff 519 1978 629 405 1234 300 2867 1162 341 236 122 696 112 496 2139 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ313480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000269051   ⟹   ENSP00000269051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1732,265,832 - 32,324,659 (+)Ensembl
RefSeq Acc Id: ENST00000431505   ⟹   ENSP00000394849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1732,266,176 - 32,321,363 (+)Ensembl
RefSeq Acc Id: ENST00000536287   ⟹   ENSP00000466508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1732,267,804 - 32,324,656 (+)Ensembl
RefSeq Acc Id: ENST00000538145   ⟹   ENSP00000442092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1732,266,177 - 32,321,363 (+)Ensembl
RefSeq Acc Id: ENST00000578006   ⟹   ENSP00000463941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1732,266,176 - 32,321,362 (+)Ensembl
RefSeq Acc Id: ENST00000582967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1732,284,152 - 32,316,274 (+)Ensembl
RefSeq Acc Id: NM_001330181   ⟹   NP_001317110
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,265,832 - 32,324,659 (+)NCBI
T2T-CHM13v2.01733,211,602 - 33,270,430 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363834   ⟹   NP_001350763
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,266,176 - 32,324,661 (+)NCBI
T2T-CHM13v2.01733,211,946 - 33,270,432 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363835   ⟹   NP_001350764
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,266,176 - 32,324,661 (+)NCBI
T2T-CHM13v2.01733,211,946 - 33,270,432 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363836   ⟹   NP_001350765
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,266,176 - 32,324,661 (+)NCBI
T2T-CHM13v2.01733,211,946 - 33,270,432 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138328   ⟹   NP_612201
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,265,832 - 32,324,659 (+)NCBI
GRCh371730,593,195 - 30,651,680 (+)RGD
Build 361727,617,308 - 27,675,793 (+)NCBI Archive
Celera1727,503,536 - 27,561,889 (+)RGD
HuRef1726,782,764 - 26,838,459 (+)RGD
CHM1_11730,655,694 - 30,714,172 (+)NCBI
T2T-CHM13v2.01733,211,602 - 33,270,430 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721734   ⟹   XP_006721797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,283,380 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024273   ⟹   XP_016879762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,265,832 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024274   ⟹   XP_016879763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,283,441 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024275   ⟹   XP_016879764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,265,832 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024276   ⟹   XP_016879765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,265,832 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024277   ⟹   XP_016879766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,284,739 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024278   ⟹   XP_016879767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,284,728 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024280   ⟹   XP_016879769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,289,075 - 32,324,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435507   ⟹   XP_047291463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,265,832 - 32,324,661 (+)NCBI
RefSeq Acc Id: XM_054315274   ⟹   XP_054171249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,211,602 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315275   ⟹   XP_054171250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,229,211 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315276   ⟹   XP_054171251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,211,602 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315277   ⟹   XP_054171252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,211,602 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315278   ⟹   XP_054171253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,229,150 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315279   ⟹   XP_054171254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,211,602 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315280   ⟹   XP_054171255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,230,509 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315281   ⟹   XP_054171256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,230,498 - 33,270,432 (+)NCBI
RefSeq Acc Id: XM_054315282   ⟹   XP_054171257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,234,845 - 33,270,432 (+)NCBI
RefSeq Acc Id: XR_001752439
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381732,265,832 - 32,316,292 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008484792
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01733,211,602 - 33,262,063 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001317110 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350763 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350764 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350765 (Get FASTA)   NCBI Sequence Viewer  
  NP_612201 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721797 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879762 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879763 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879764 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879765 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879766 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879767 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879769 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171251 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171253 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171254 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171256 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171257 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI00976 (Get FASTA)   NCBI Sequence Viewer  
  AAI00977 (Get FASTA)   NCBI Sequence Viewer  
  AAI00978 (Get FASTA)   NCBI Sequence Viewer  
  AAI00979 (Get FASTA)   NCBI Sequence Viewer  
  BAG54052 (Get FASTA)   NCBI Sequence Viewer  
  CAC86145 (Get FASTA)   NCBI Sequence Viewer  
  EAW80239 (Get FASTA)   NCBI Sequence Viewer  
  EAW80240 (Get FASTA)   NCBI Sequence Viewer  
  EAW80241 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000269051
  ENSP00000269051.4
  ENSP00000394849
  ENSP00000394849.2
  ENSP00000442092
  ENSP00000442092.1
  ENSP00000463941.1
  ENSP00000466508
  ENSP00000466508.1
GenBank Protein P58872 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_612201   ⟸   NM_138328
- Peptide Label: isoform 1
- UniProtKB: Q495Y5 (UniProtKB/Swiss-Prot),   Q495Y4 (UniProtKB/Swiss-Prot),   A6NMH1 (UniProtKB/Swiss-Prot),   Q495Y6 (UniProtKB/Swiss-Prot),   P58872 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721797   ⟸   XM_006721734
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016879764   ⟸   XM_017024275
- Peptide Label: isoform X3
- UniProtKB: A4FU16 (UniProtKB/TrEMBL),   E9PD28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879762   ⟸   XM_017024273
- Peptide Label: isoform X1
- UniProtKB: A4FU16 (UniProtKB/TrEMBL),   E9PD28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879765   ⟸   XM_017024276
- Peptide Label: isoform X4
- UniProtKB: A4FU16 (UniProtKB/TrEMBL),   E9PD28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879763   ⟸   XM_017024274
- Peptide Label: isoform X2
- UniProtKB: A4FU16 (UniProtKB/TrEMBL),   E9PD28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879767   ⟸   XM_017024278
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016879766   ⟸   XM_017024277
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016879769   ⟸   XM_017024280
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001317110   ⟸   NM_001330181
- Peptide Label: isoform 2
- UniProtKB: P58872 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350764   ⟸   NM_001363835
- Peptide Label: isoform 3
- UniProtKB: A4FU16 (UniProtKB/TrEMBL),   E9PD28 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350765   ⟸   NM_001363836
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001350763   ⟸   NM_001363834
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000269051   ⟸   ENST00000269051
RefSeq Acc Id: ENSP00000466508   ⟸   ENST00000536287
RefSeq Acc Id: ENSP00000442092   ⟸   ENST00000538145
RefSeq Acc Id: ENSP00000394849   ⟸   ENST00000431505
RefSeq Acc Id: ENSP00000463941   ⟸   ENST00000578006
RefSeq Acc Id: XP_047291463   ⟸   XM_047435507
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054171254   ⟸   XM_054315279
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054171251   ⟸   XM_054315276
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054171249   ⟸   XM_054315274
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054171252   ⟸   XM_054315277
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054171253   ⟸   XM_054315278
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054171250   ⟸   XM_054315275
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054171256   ⟸   XM_054315281
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054171255   ⟸   XM_054315280
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054171257   ⟸   XM_054315282
- Peptide Label: isoform X8
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58872-F1-model_v2 AlphaFold P58872 1-404 view protein structure

Promoters
RGD ID:7234557
Promoter ID:EPDNEW_H23024
Type:initiation region
Name:RHBDL3_1
Description:rhomboid like 3
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
GRCh381732,266,147 - 32,266,207EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16502 AgrOrtholog
COSMIC RHBDL3 COSMIC
Ensembl Genes ENSG00000141314 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269051 ENTREZGENE
  ENST00000269051.9 UniProtKB/Swiss-Prot
  ENST00000431505 ENTREZGENE
  ENST00000431505.6 UniProtKB/TrEMBL
  ENST00000536287 ENTREZGENE
  ENST00000536287.2 UniProtKB/Swiss-Prot
  ENST00000538145 ENTREZGENE
  ENST00000538145.5 UniProtKB/Swiss-Prot
  ENST00000578006.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141314 GTEx
HGNC ID HGNC:16502 ENTREZGENE
Human Proteome Map RHBDL3 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S54_rhomboid_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S54_rhomboid_met UniProtKB/Swiss-Prot
  Rhomboid-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:162494 UniProtKB/Swiss-Prot
NCBI Gene 162494 ENTREZGENE
OMIM 619017 OMIM
PANTHER RHOMBOID-RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOMBOID-RELATED PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhomboid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34384 PharmGKB
PIRSF Rhomboid UniProtKB/Swiss-Prot
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF144091 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4FU16 ENTREZGENE, UniProtKB/TrEMBL
  A6NMH1 ENTREZGENE
  E9PD28 ENTREZGENE
  J3QQX4_HUMAN UniProtKB/TrEMBL
  P58872 ENTREZGENE
  Q495Y4 ENTREZGENE
  Q495Y5 ENTREZGENE
  Q495Y6 ENTREZGENE
  RHBL3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NMH1 UniProtKB/Swiss-Prot
  E9PD28 UniProtKB/TrEMBL
  Q495Y4 UniProtKB/Swiss-Prot
  Q495Y5 UniProtKB/Swiss-Prot
  Q495Y6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 RHBDL3  rhomboid like 3    rhomboid, veinlet-like 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED