UNC50 (unc-50 inner nuclear membrane RNA binding protein) - Rat Genome Database

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Gene: UNC50 (unc-50 inner nuclear membrane RNA binding protein) Homo sapiens
Analyze
Symbol: UNC50
Name: unc-50 inner nuclear membrane RNA binding protein
RGD ID: 1343022
HGNC Page HGNC:16046
Description: Predicted to enable RNA binding activity. Predicted to be involved in protein localization to cell surface. Predicted to be located in nuclear inner membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp564G0222; geal-6 membrane-associated high-copy suppressor 1; GMH1; hGMH1; HSD23; PDLs22; periodontal ligament-specific protein 22; protein GMH1 homolog; unc-50 homolog; unc-50 homolog (C. elegans); unc-50 related; UNCL; uncoordinated-like protein; URP
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
GRCh38298,608,589 - 98,618,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl298,608,579 - 98,618,515 (+)EnsemblGRCh38hg38GRCh38
GRCh37299,225,052 - 99,234,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36298,591,474 - 98,601,410 (+)NCBINCBI36Build 36hg18NCBI36
Build 34298,683,559 - 98,693,493NCBI
Celera293,428,766 - 93,438,703 (+)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef292,989,630 - 92,999,566 (+)NCBIHuRef
CHM1_1299,229,365 - 99,239,301 (+)NCBICHM1_1
T2T-CHM13v2.0299,066,916 - 99,076,837 (+)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

Cellular Component

Molecular Function
protein binding  (IPI)
RNA binding  (IEA,ISO,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. UNCL, the mammalian homologue of UNC-50, is an inner nuclear membrane RNA-binding protein. Fitzgerald J, etal., Brain Res 2000 Sep 15;877(1):110-23.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11042152   PMID:11230166   PMID:12477932   PMID:17004066   PMID:17207965   PMID:21516116   PMID:21873635   PMID:24623722   PMID:25738771   PMID:26472760   PMID:26496610  
PMID:26760575   PMID:26871637   PMID:28883040   PMID:29016857   PMID:32296183   PMID:32694731   PMID:33845483   PMID:33961781   PMID:36949045  


Genomics

Comparative Map Data
UNC50
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38298,608,589 - 98,618,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl298,608,579 - 98,618,515 (+)EnsemblGRCh38hg38GRCh38
GRCh37299,225,052 - 99,234,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36298,591,474 - 98,601,410 (+)NCBINCBI36Build 36hg18NCBI36
Build 34298,683,559 - 98,693,493NCBI
Celera293,428,766 - 93,438,703 (+)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef292,989,630 - 92,999,566 (+)NCBIHuRef
CHM1_1299,229,365 - 99,239,301 (+)NCBICHM1_1
T2T-CHM13v2.0299,066,916 - 99,076,837 (+)NCBIT2T-CHM13v2.0
Unc50
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39137,469,220 - 37,478,068 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl137,469,220 - 37,478,205 (+)EnsemblGRCm39 Ensembl
GRCm38137,430,139 - 37,438,987 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl137,430,139 - 37,439,124 (+)EnsemblGRCm38mm10GRCm38
MGSCv37137,487,017 - 37,495,969 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36137,374,718 - 37,383,670 (+)NCBIMGSCv36mm8
Celera137,212,232 - 37,220,930 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map115.46NCBI
Unc50
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8947,160,723 - 47,169,710 (+)NCBIGRCr8
mRatBN7.2939,664,944 - 39,674,369 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl939,664,971 - 39,672,890 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx948,161,080 - 48,168,954 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0953,283,830 - 53,291,704 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0951,565,699 - 51,573,573 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0944,024,994 - 44,032,896 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl944,025,020 - 44,032,888 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0943,726,196 - 43,734,124 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4936,375,661 - 36,383,535 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1936,377,074 - 36,384,946 (+)NCBI
Celera937,419,271 - 37,427,145 (+)NCBICelera
RH 3.4 Map9365.9RGD
Cytogenetic Map9q21NCBI
Unc50
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554705,050,982 - 5,059,890 (+)NCBIChiLan1.0ChiLan1.0
UNC50
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21229,826,095 - 29,835,997 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A29,828,976 - 29,838,759 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A100,693,433 - 100,703,371 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A99,516,848 - 99,526,785 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A99,516,857 - 99,526,785 (+)Ensemblpanpan1.1panPan2
UNC50
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11044,057,617 - 44,073,153 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1044,057,775 - 44,073,074 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1043,980,524 - 43,995,508 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01044,931,041 - 44,946,061 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1044,931,025 - 44,945,866 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11044,641,462 - 44,656,444 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01044,932,398 - 44,947,410 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01045,108,149 - 45,123,136 (-)NCBIUU_Cfam_GSD_1.0
Unc50
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629284,449,010 - 84,457,064 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367441,701,632 - 1,709,826 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367441,701,988 - 1,710,007 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UNC50
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl355,667,826 - 55,676,978 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1355,667,821 - 55,676,995 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2358,220,278 - 58,229,446 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UNC50
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1142,322,167 - 2,333,518 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl142,322,206 - 2,333,495 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041169,842,761 - 169,858,697 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Unc50
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247493,645,869 - 3,655,666 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247493,646,365 - 3,655,666 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UNC50
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1		 pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2		 pathogenic
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 copy number gain See cases [RCV000138012] Chr2:95337458..99072953 [GRCh38]
Chr2:96003206..99689416 [GRCh37]
Chr2:95366933..99055848 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1 copy number loss See cases [RCV000139206] Chr2:98411773..101636907 [GRCh38]
Chr2:99028236..102253369 [GRCh37]
Chr2:98394668..101619801 [NCBI36]
Chr2:2q11.2		 likely pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3		 pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) copy number gain See cases [RCV000447723] Chr2:95691600..100587394 [GRCh37]
Chr2:2q11.1-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_014044.7(UNC50):c.164A>G (p.Tyr55Cys) single nucleotide variant Inborn genetic diseases [RCV003285365] Chr2:98609923 [GRCh38]
Chr2:99226386 [GRCh37]
Chr2:2q11.2		 uncertain significance
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_014044.7(UNC50):c.287C>G (p.Thr96Ser) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855487] Chr2:98610781 [GRCh38]
Chr2:99227244 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_014044.7(UNC50):c.-26C>T single nucleotide variant not provided [RCV000829133] Chr2:98608705 [GRCh38]
Chr2:99225168 [GRCh37]
Chr2:2q11.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_014044.7(UNC50):c.360A>G (p.Ile120Met) single nucleotide variant not provided [RCV001262020] Chr2:98610854 [GRCh38]
Chr2:99227317 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 copy number gain not provided [RCV002473932] Chr2:95341388..100340514 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
NM_014044.7(UNC50):c.119G>A (p.Arg40His) single nucleotide variant Inborn genetic diseases [RCV002864371] Chr2:98609878 [GRCh38]
Chr2:99226341 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_014044.7(UNC50):c.544G>A (p.Val182Ile) single nucleotide variant Inborn genetic diseases [RCV002887077] Chr2:98616434 [GRCh38]
Chr2:99232897 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_014044.7(UNC50):c.614A>T (p.Tyr205Phe) single nucleotide variant Inborn genetic diseases [RCV002757124] Chr2:98616504 [GRCh38]
Chr2:99232967 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_014044.7(UNC50):c.422T>C (p.Leu141Ser) single nucleotide variant Inborn genetic diseases [RCV002931219] Chr2:98616227 [GRCh38]
Chr2:99232690 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_014044.7(UNC50):c.313A>G (p.Met105Val) single nucleotide variant Inborn genetic diseases [RCV002957043] Chr2:98610807 [GRCh38]
Chr2:99227270 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_014044.7(UNC50):c.391A>T (p.Thr131Ser) single nucleotide variant Inborn genetic diseases [RCV002835471] Chr2:98610885 [GRCh38]
Chr2:99227348 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 copy number gain not provided [RCV003484069] Chr2:95773428..102550061 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
NM_014044.7(UNC50):c.696G>A (p.Leu232=) single nucleotide variant UNC50-related condition [RCV003961461] Chr2:98618220 [GRCh38]
Chr2:99234683 [GRCh37]
Chr2:2q11.2		 likely benign
NM_014044.7(UNC50):c.644-28_644-27dup duplication UNC50-related condition [RCV003979061] Chr2:98618138..98618139 [GRCh38]
Chr2:99234601..99234602 [GRCh37]
Chr2:2q11.2		 benign
NM_014044.7(UNC50):c.-4-46T>A single nucleotide variant UNC50-related condition [RCV003982392] Chr2:98609710 [GRCh38]
Chr2:99226173 [GRCh37]
Chr2:2q11.2		 benign
NM_014044.7(UNC50):c.644-27dup duplication UNC50-related condition [RCV003984547] Chr2:98618138..98618139 [GRCh38]
Chr2:99234601..99234602 [GRCh37]
Chr2:2q11.2		 benign
NM_014044.7(UNC50):c.644-30T>A single nucleotide variant UNC50-related condition [RCV003964318] Chr2:98618138 [GRCh38]
Chr2:99234601 [GRCh37]
Chr2:2q11.2		 benign
NM_014044.7(UNC50):c.640A>G (p.Ser214Gly) single nucleotide variant UNC50-related condition [RCV003969319] Chr2:98616530 [GRCh38]
Chr2:99232993 [GRCh37]
Chr2:2q11.2		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:363
Count of miRNA genes:101
Interacting mature miRNAs:103
Transcripts:ENST00000357765, ENST00000393493, ENST00000409347, ENST00000409975, ENST00000423713, ENST00000466492
Prediction methods:Microtar, 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
D2S1730E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37299,226,148 - 99,226,301UniSTSGRCh37
Build 36298,592,580 - 98,592,733RGDNCBI36
Celera293,429,872 - 93,430,025RGD
Cytogenetic Map2q11.2UniSTS
HuRef292,990,736 - 92,990,889UniSTS
A004H48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37299,234,751 - 99,234,874UniSTSGRCh37
Build 36298,601,183 - 98,601,306RGDNCBI36
Celera293,438,476 - 93,438,599RGD
Cytogenetic Map2q11.2UniSTS
HuRef292,999,339 - 92,999,462UniSTS
GeneMap99-GB4 RH Map2355.36UniSTS
NCBI RH Map2815.0UniSTS
MARC_7289-7290:992008307:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37299,226,467 - 99,227,266UniSTSGRCh37
Celera293,430,191 - 93,430,990UniSTS
HuRef292,991,055 - 92,991,854UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2435 2229 1656 560 1473 401 4100 1711 3351 399 1456 1610 174 1 1203 2531 6 2
Low 4 761 70 64 477 64 257 486 383 20 4 3 1 257
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC064860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY017215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY251534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357765   ⟹   ENSP00000350409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,608,589 - 98,618,515 (+)Ensembl
RefSeq Acc Id: ENST00000393493   ⟹   ENSP00000377131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,616,206 - 98,618,515 (+)Ensembl
RefSeq Acc Id: ENST00000409347   ⟹   ENSP00000386466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,608,844 - 98,618,515 (+)Ensembl
RefSeq Acc Id: ENST00000409975   ⟹   ENSP00000387146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,608,579 - 98,618,515 (+)Ensembl
RefSeq Acc Id: ENST00000423713   ⟹   ENSP00000412224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,616,206 - 98,618,515 (+)Ensembl
RefSeq Acc Id: ENST00000466492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,616,397 - 98,618,512 (+)Ensembl
RefSeq Acc Id: NM_001330353   ⟹   NP_001317282
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,608,589 - 98,618,515 (+)NCBI
T2T-CHM13v2.0299,066,916 - 99,076,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330354   ⟹   NP_001317283
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,608,589 - 98,618,515 (+)NCBI
T2T-CHM13v2.0299,066,916 - 99,076,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014044   ⟹   NP_054763
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,608,589 - 98,618,515 (+)NCBI
GRCh37299,225,032 - 99,234,978 (+)NCBI
Build 36298,591,474 - 98,601,410 (+)NCBI Archive
Celera293,428,766 - 93,438,703 (+)RGD
HuRef292,989,630 - 92,999,566 (+)ENTREZGENE
CHM1_1299,229,365 - 99,239,301 (+)NCBI
T2T-CHM13v2.0299,066,916 - 99,076,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712403   ⟹   XP_006712466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,608,589 - 98,618,515 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054341317   ⟹   XP_054197292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0299,066,916 - 99,076,837 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_054763   ⟸   NM_014044
- Peptide Label: isoform 3
- UniProtKB: Q9UQF4 (UniProtKB/Swiss-Prot),   Q6X7B9 (UniProtKB/Swiss-Prot),   Q5U5U2 (UniProtKB/Swiss-Prot),   Q53TD6 (UniProtKB/Swiss-Prot),   Q53S98 (UniProtKB/Swiss-Prot),   D3DVH4 (UniProtKB/Swiss-Prot),   Q9Y4S6 (UniProtKB/Swiss-Prot),   Q53HI1 (UniProtKB/Swiss-Prot),   A0A0S2Z612 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712466   ⟸   XM_006712403
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001317283   ⟸   NM_001330354
- Peptide Label: isoform 1
- UniProtKB: J3KQ47 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317282   ⟸   NM_001330353
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000412224   ⟸   ENST00000423713
RefSeq Acc Id: ENSP00000377131   ⟸   ENST00000393493
RefSeq Acc Id: ENSP00000387146   ⟸   ENST00000409975
RefSeq Acc Id: ENSP00000386466   ⟸   ENST00000409347
RefSeq Acc Id: ENSP00000350409   ⟸   ENST00000357765
RefSeq Acc Id: XP_054197292   ⟸   XM_054341317
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q53HI1-F1-model_v2 AlphaFold Q53HI1 1-259 view protein structure

Promoters
RGD ID:6796907
Promoter ID:HG_KWN:34063
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409347,   ENST00000409975,   ENST00000409997,   OTTHUMT00000252987,   OTTHUMT00000329529,   OTTHUMT00000329531
Position:
Human AssemblyChrPosition (strand)Source
Build 36298,590,601 - 98,592,482 (-)MPROMDB
RGD ID:6861126
Promoter ID:EPDNEW_H3728
Type:initiation region
Name:UNC50_1
Description:unc-50 inner nuclear membrane RNA binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3729  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,608,613 - 98,608,673EPDNEW
RGD ID:6861128
Promoter ID:EPDNEW_H3729
Type:initiation region
Name:UNC50_2
Description:unc-50 inner nuclear membrane RNA binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3728  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,608,848 - 98,608,908EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16046 AgrOrtholog
COSMIC UNC50 COSMIC
Ensembl Genes ENSG00000115446 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357765 ENTREZGENE
  ENST00000357765.7 UniProtKB/Swiss-Prot
  ENST00000393493.6 UniProtKB/TrEMBL
  ENST00000409347 ENTREZGENE
  ENST00000409347.5 UniProtKB/TrEMBL
  ENST00000409975.5 UniProtKB/TrEMBL
  ENST00000423713.1 UniProtKB/TrEMBL
GTEx ENSG00000115446 GTEx
HGNC ID HGNC:16046 ENTREZGENE
Human Proteome Map UNC50 Human Proteome Map
InterPro UNC-50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25972 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 25972 ENTREZGENE
OMIM 617826 OMIM
PANTHER PROTEIN UNC-50 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12841 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UNC-50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134984566 PharmGKB
UniProt A0A0S2Z5D7_HUMAN UniProtKB/TrEMBL
  A0A0S2Z612 ENTREZGENE, UniProtKB/TrEMBL
  D3DVH4 ENTREZGENE
  H7BYK3_HUMAN UniProtKB/TrEMBL
  H7C3J5_HUMAN UniProtKB/TrEMBL
  J3KQ47 ENTREZGENE, UniProtKB/TrEMBL
  Q53HI1 ENTREZGENE
  Q53S98 ENTREZGENE
  Q53TD6 ENTREZGENE
  Q5U5U2 ENTREZGENE
  Q6X7B9 ENTREZGENE
  Q9UQF4 ENTREZGENE
  Q9Y4S6 ENTREZGENE
  UNC50_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DVH4 UniProtKB/Swiss-Prot
  Q53S98 UniProtKB/Swiss-Prot
  Q53TD6 UniProtKB/Swiss-Prot
  Q5U5U2 UniProtKB/Swiss-Prot
  Q6X7B9 UniProtKB/Swiss-Prot
  Q9UQF4 UniProtKB/Swiss-Prot
  Q9Y4S6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 UNC50  unc-50 inner nuclear membrane RNA binding protein    unc-50 homolog (C. elegans)  Symbol and/or name change 5135510 APPROVED