PSMC3IP (PSMC3 interacting protein) - Rat Genome Database

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Gene: PSMC3IP (PSMC3 interacting protein) Homo sapiens
Analyze
Symbol: PSMC3IP
Name: PSMC3 interacting protein
RGD ID: 730859
HGNC Page HGNC:17928
Description: Enables nuclear receptor coactivator activity. Involved in homologous chromosome pairing at meiosis and reciprocal meiotic recombination. Located in nucleoplasm. Implicated in ovarian dysgenesis 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DBD-interacting; GT198; GT198 alternative; homologous-pairing protein 2 homolog; HOP2; HUMGT198A; nuclear receptor coactivator GT198; ODG3; proteasome 26S ATPase subunit 3-interacting protein; PSMC3-interacting protein; tat-binding protein 1-interacting protein; TBP-1 interacting protein; TBP-1-interacting protein; TBPIP
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
GRCh381742,572,310 - 42,577,831 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,572,310 - 42,577,831 (-)EnsemblGRCh38hg38GRCh38
GRCh371740,724,328 - 40,729,849 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,977,859 - 37,983,380 (-)NCBINCBI36Build 36hg18NCBI36
Celera1737,380,262 - 37,385,646 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBIHuRef
CHM1_11740,960,160 - 40,965,647 (-)NCBICHM1_1
T2T-CHM13v2.01743,429,498 - 43,434,985 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-colchicine  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
adenine  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bezafibrate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
hexadecanoic acid  (EXP)
indole-3-methanol  (ISO)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lucanthone  (EXP)
methimazole  (ISO)
methoxyacetic acid  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
Monobutylphthalate  (ISO)
niclosamide  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7490091   PMID:9345291   PMID:10806355   PMID:11739747   PMID:12477932   PMID:14702039   PMID:16407260   PMID:17639080   PMID:18941885   PMID:19325002   PMID:21873635   PMID:21963259  
PMID:24097974   PMID:24481226   PMID:25640309   PMID:25820426   PMID:26344197   PMID:26496610   PMID:27432908   PMID:28514442   PMID:29117863   PMID:29240891   PMID:30021884   PMID:30362169  
PMID:30406445   PMID:30415952   PMID:32694731   PMID:33961781   PMID:34079088   PMID:34878148   PMID:35271311   PMID:35559673   PMID:36180891  


Genomics

Comparative Map Data
PSMC3IP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381742,572,310 - 42,577,831 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1742,572,310 - 42,577,831 (-)EnsemblGRCh38hg38GRCh38
GRCh371740,724,328 - 40,729,849 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,977,859 - 37,983,380 (-)NCBINCBI36Build 36hg18NCBI36
Celera1737,380,262 - 37,385,646 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBIHuRef
CHM1_11740,960,160 - 40,965,647 (-)NCBICHM1_1
T2T-CHM13v2.01743,429,498 - 43,434,985 (-)NCBIT2T-CHM13v2.0
Psmc3ip
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,981,238 - 100,986,261 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11100,982,649 - 100,986,262 (-)EnsemblGRCm39 Ensembl
GRCm3811101,092,141 - 101,095,435 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11101,091,823 - 101,095,436 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711100,953,471 - 100,956,715 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611100,908,247 - 100,911,493 (-)NCBIMGSCv36mm8
Celera11112,388,259 - 112,391,503 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1164.19NCBI
Psmc3ip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81086,524,546 - 86,527,764 (-)NCBIGRCr8
mRatBN7.21086,024,281 - 86,027,928 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1086,023,950 - 86,027,423 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1091,060,790 - 91,063,894 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01090,539,567 - 90,542,667 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01085,932,734 - 85,935,834 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01089,002,109 - 89,006,075 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1089,002,116 - 89,005,213 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01088,800,605 - 88,804,246 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41090,108,909 - 90,112,013 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11090,123,476 - 90,126,383 (-)NCBI
Celera1084,741,976 - 84,745,080 (-)NCBICelera
Cytogenetic Map10q31NCBI
Psmc3ip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545116,464,233 - 16,467,896 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545116,464,233 - 16,467,896 (-)NCBIChiLan1.0ChiLan1.0
PSMC3IP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21922,405,221 - 22,412,282 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11724,296,755 - 24,302,282 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01714,738,205 - 14,744,215 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11714,961,602 - 14,967,639 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1714,961,602 - 14,967,639 (+)Ensemblpanpan1.1panPan2
PSMC3IP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1920,386,635 - 20,391,293 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl920,386,758 - 20,390,701 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha919,848,489 - 19,853,157 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0921,105,591 - 21,110,259 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl921,105,713 - 21,109,656 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1919,891,441 - 19,896,094 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0920,156,657 - 20,161,330 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0920,260,704 - 20,265,373 (+)NCBIUU_Cfam_GSD_1.0
Psmc3ip
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560219,741,308 - 19,746,944 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649017,328,494 - 17,333,657 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649017,328,195 - 17,333,700 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMC3IP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1220,244,304 - 20,250,159 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11220,244,243 - 20,250,151 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21220,456,944 - 20,462,859 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PSMC3IP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11663,709,351 - 63,715,338 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1663,709,982 - 63,714,804 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607734,504,161 - 34,511,003 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psmc3ip
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247951,536,148 - 1,539,866 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247951,535,350 - 1,540,249 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSMC3IP
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_016556.4(PSMC3IP):c.225+89C>T single nucleotide variant not provided [RCV001766244] Chr17:42577124 [GRCh38]
Chr17:40729142 [GRCh37]
Chr17:17q21.2		 likely benign
NM_198204.2(MLX):c.*1418CCT[1] microsatellite Ovarian dysgenesis 3 [RCV000023720] Chr17:42573020..42573022 [GRCh38]
Chr17:40725038..40725040 [GRCh37]
Chr17:17q21.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
NM_001256016.1(PSMC3IP):c.332G>A (p.Gly111Glu) single nucleotide variant Malignant melanoma [RCV000063223] Chr17:42573135 [GRCh38]
Chr17:40725153 [GRCh37]
Chr17:37978679 [NCBI36]
Chr17:17q21.2		 not provided
NM_016556.4(PSMC3IP):c.614del (p.Glu205fs) deletion Ovarian dysgenesis 3 [RCV001002738] Chr17:42573008 [GRCh38]
Chr17:40725026 [GRCh37]
Chr17:17q21.2		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_016556.4(PSMC3IP):c.280G>A (p.Val94Met) single nucleotide variant not provided [RCV000593144] Chr17:42574156 [GRCh38]
Chr17:40726174 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.136-10C>T single nucleotide variant not provided [RCV002061479]|not specified [RCV000444704] Chr17:42577312 [GRCh38]
Chr17:40729330 [GRCh37]
Chr17:17q21.2		 benign
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
NM_016556.4(PSMC3IP):c.487T>A (p.Tyr163Asn) single nucleotide variant not provided [RCV002064376]|not specified [RCV000610270] Chr17:42573361 [GRCh38]
Chr17:40725379 [GRCh37]
Chr17:17q21.2		 benign
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 17q21.2(chr17:40570771-40797461)x3 copy number gain not provided [RCV000683935] Chr17:40570771..40797461 [GRCh37]
Chr17:17q21.2		 uncertain significance
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
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
NM_016556.4(PSMC3IP):c.363G>A (p.Leu121=) single nucleotide variant not provided [RCV000902557] Chr17:42573598 [GRCh38]
Chr17:40725616 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.30G>A (p.Ala10=) single nucleotide variant not provided [RCV000899632] Chr17:42577657 [GRCh38]
Chr17:40729675 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.-35C>T single nucleotide variant Ovarian dysgenesis 3 [RCV000986186] Chr17:42577721 [GRCh38]
Chr17:40729739 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.323G>A (p.Arg108His) single nucleotide variant PSMC3IP-related condition [RCV003926138]|not provided [RCV000960972] Chr17:42574113 [GRCh38]
Chr17:40726131 [GRCh37]
Chr17:17q21.2		 likely benign
GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3 copy number gain not provided [RCV000847110] Chr17:40595473..40785031 [GRCh37]
Chr17:17q21.2		 uncertain significance
GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3 copy number gain not provided [RCV000846911] Chr17:40583927..40778487 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.136-38_136-37del deletion not provided [RCV001608651] Chr17:42577339..42577340 [GRCh38]
Chr17:40729357..40729358 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.338-15C>G single nucleotide variant Ovarian dysgenesis 3 [RCV001789540]|not provided [RCV001708092] Chr17:42573638 [GRCh38]
Chr17:40725656 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.246T>C (p.Ser82=) single nucleotide variant not provided [RCV000957966] Chr17:42574190 [GRCh38]
Chr17:40726208 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.337+88C>T single nucleotide variant not provided [RCV001635997] Chr17:42574011 [GRCh38]
Chr17:40726029 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.225+79G>A single nucleotide variant not provided [RCV001648664] Chr17:42577134 [GRCh38]
Chr17:40729152 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.34+1G>A single nucleotide variant Ovarian dysgenesis 3 [RCV001336354] Chr17:42577652 [GRCh38]
Chr17:40729670 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_016556.4(PSMC3IP):c.338-158G>A single nucleotide variant not provided [RCV001645972] Chr17:42573781 [GRCh38]
Chr17:40725799 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.*9C>T single nucleotide variant not provided [RCV001538870] Chr17:42572959 [GRCh38]
Chr17:40724977 [GRCh37]
Chr17:17q21.2		 benign
NM_016556.4(PSMC3IP):c.338-147T>C single nucleotide variant not provided [RCV001618137] Chr17:42573770 [GRCh38]
Chr17:40725788 [GRCh37]
Chr17:17q21.2		 benign
NC_000017.10:g.(?_40688291)_(40729741_?)dup duplication Mucopolysaccharidosis, MPS-III-B [RCV003109258] Chr17:40688291..40729741 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.189G>T (p.Lys63Asn) single nucleotide variant not provided [RCV002045047] Chr17:42577249 [GRCh38]
Chr17:40729267 [GRCh37]
Chr17:17q21.2		 uncertain significance
NC_000017.11:g.42577849G>A single nucleotide variant not provided [RCV002292089] Chr17:42577849 [GRCh38]
Chr17:40729867 [GRCh37]
Chr17:17q21.2		 likely benign
NM_016556.4(PSMC3IP):c.13C>T (p.Arg5Trp) single nucleotide variant not provided [RCV002904028]|not specified [RCV004066198] Chr17:42577674 [GRCh38]
Chr17:40729692 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.481C>G (p.Gln161Glu) single nucleotide variant not provided [RCV002785415] Chr17:42573480 [GRCh38]
Chr17:40725498 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.14G>A (p.Arg5Gln) single nucleotide variant not specified [RCV004078020] Chr17:42577673 [GRCh38]
Chr17:40729691 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.100G>C (p.Gly34Arg) single nucleotide variant not specified [RCV004313438] Chr17:42577496 [GRCh38]
Chr17:40729514 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.379C>G (p.Gln127Glu) single nucleotide variant not specified [RCV004268995] Chr17:42573582 [GRCh38]
Chr17:40725600 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.509G>A (p.Cys170Tyr) single nucleotide variant not specified [RCV004348923] Chr17:42573339 [GRCh38]
Chr17:40725357 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.634G>T (p.Val212Phe) single nucleotide variant not specified [RCV004348924] Chr17:42572988 [GRCh38]
Chr17:40725006 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.597+19_597+22del microsatellite not provided [RCV003879876] Chr17:42573085..42573088 [GRCh38]
Chr17:40725103..40725106 [GRCh37]
Chr17:17q21.2		 likely benign
NM_016556.4(PSMC3IP):c.226G>A (p.Asp76Asn) single nucleotide variant not provided [RCV003698632] Chr17:42574210 [GRCh38]
Chr17:40726228 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.69G>A (p.Gln23=) single nucleotide variant not provided [RCV003555871] Chr17:42577527 [GRCh38]
Chr17:40729545 [GRCh37]
Chr17:17q21.2		 likely benign
NM_016556.4(PSMC3IP):c.262G>C (p.Val88Leu) single nucleotide variant not specified [RCV004513314] Chr17:42574174 [GRCh38]
Chr17:40726192 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.383A>G (p.Lys128Arg) single nucleotide variant not specified [RCV004513316] Chr17:42573578 [GRCh38]
Chr17:40725596 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.474G>C (p.Glu158Asp) single nucleotide variant not specified [RCV004513317] Chr17:42573487 [GRCh38]
Chr17:40725505 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.13C>G (p.Arg5Gly) single nucleotide variant not specified [RCV004513313] Chr17:42577674 [GRCh38]
Chr17:40729692 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.340C>G (p.Leu114Val) single nucleotide variant not specified [RCV004513315] Chr17:42573621 [GRCh38]
Chr17:40725639 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.617C>T (p.Thr206Met) single nucleotide variant not specified [RCV004513318] Chr17:42573005 [GRCh38]
Chr17:40725023 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_016556.4(PSMC3IP):c.411C>T (p.Cys137=) single nucleotide variant PSMC3IP-related condition [RCV003904244] Chr17:42573550 [GRCh38]
Chr17:40725568 [GRCh37]
Chr17:17q21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2467
Count of miRNA genes:748
Interacting mature miRNAs:851
Transcripts:ENST00000253789, ENST00000393795, ENST00000586337, ENST00000587209, ENST00000587268, ENST00000588544, ENST00000589505, ENST00000590760, ENST00000590931
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
D17S1663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,724,364 - 40,724,614UniSTSGRCh37
Build 361737,977,890 - 37,978,140RGDNCBI36
Celera1737,380,297 - 37,380,547RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21.1UniSTS
HuRef1736,489,033 - 36,489,283UniSTS
GeneMap99-GB4 RH Map17307.89UniSTS
Whitehead-RH Map17346.0UniSTS
G43000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,724,252 - 40,724,418UniSTSGRCh37
Build 361737,977,778 - 37,977,944RGDNCBI36
Celera1737,380,185 - 37,380,351RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21.1UniSTS
HuRef1736,488,921 - 36,489,087UniSTS
D17S1440E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,726,097 - 40,726,224UniSTSGRCh37
Build 361737,979,623 - 37,979,750RGDNCBI36
Celera1737,382,030 - 37,382,157RGD
Cytogenetic Map17q21.2UniSTS
HuRef1736,490,766 - 36,490,893UniSTS
STS-U18014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,724,362 - 40,724,564UniSTSGRCh37
Build 361737,977,888 - 37,978,090RGDNCBI36
Celera1737,380,295 - 37,380,497RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map17q21.1UniSTS
HuRef1736,489,031 - 36,489,233UniSTS
GeneMap99-GB4 RH Map17311.36UniSTS


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 217 103 67 28 398 31 866 91 863 65 676 304 10 7 609 1
Low 2221 2797 1608 548 1483 386 3491 2083 2871 351 782 1307 165 1 1197 2179 5 2
Below cutoff 1 91 51 48 68 48 23 3 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB030304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF440240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI115923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB494067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ952179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ952180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ952181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ952182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ952183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ851964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ851965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253789   ⟹   ENSP00000253789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,323 - 42,577,831 (-)Ensembl
RefSeq Acc Id: ENST00000393795   ⟹   ENSP00000377384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,310 - 42,577,729 (-)Ensembl
RefSeq Acc Id: ENST00000586337   ⟹   ENSP00000466031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,896 - 42,577,688 (-)Ensembl
RefSeq Acc Id: ENST00000587209   ⟹   ENSP00000468188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,343 - 42,577,697 (-)Ensembl
RefSeq Acc Id: ENST00000587268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,576,677 - 42,577,672 (-)Ensembl
RefSeq Acc Id: ENST00000588544   ⟹   ENSP00000465409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,962 - 42,577,795 (-)Ensembl
RefSeq Acc Id: ENST00000589505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,962 - 42,577,795 (-)Ensembl
RefSeq Acc Id: ENST00000590760   ⟹   ENSP00000466381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,962 - 42,577,696 (-)Ensembl
RefSeq Acc Id: ENST00000590931   ⟹   ENSP00000467952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1742,572,962 - 42,577,795 (-)Ensembl
RefSeq Acc Id: NM_001256014   ⟹   NP_001242943
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,729 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,532 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256015   ⟹   NP_001242944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,729 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,647 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256016   ⟹   NP_001242945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,729 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,647 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013290   ⟹   NP_037422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,729 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
Build 361737,977,874 - 37,983,380 (-)NCBI Archive
Celera1737,380,262 - 37,385,646 (-)RGD
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,647 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,883 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016556   ⟹   NP_057640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,729 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
Build 361737,977,859 - 37,983,273 (-)NCBI Archive
Celera1737,380,262 - 37,385,646 (-)RGD
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,647 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,883 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045669
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,831 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,647 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,985 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045670
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,831 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,647 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,985 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045671
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,572,310 - 42,577,729 (-)NCBI
GRCh371740,724,328 - 40,729,849 (-)NCBI
HuRef1736,488,997 - 36,494,484 (-)NCBI
CHM1_11740,960,160 - 40,965,532 (-)NCBI
T2T-CHM13v2.01743,429,498 - 43,434,883 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_037422   ⟸   NM_013290
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_057640   ⟸   NM_016556
- Peptide Label: isoform 2
- UniProtKB: Q8WXG2 (UniProtKB/Swiss-Prot),   Q14458 (UniProtKB/Swiss-Prot),   C5ILB7 (UniProtKB/Swiss-Prot),   Q96HA2 (UniProtKB/Swiss-Prot),   Q9P2W1 (UniProtKB/Swiss-Prot),   A0A158RUX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242945   ⟸   NM_001256016
- Peptide Label: isoform 4
- UniProtKB: Q9P2W1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242944   ⟸   NM_001256015
- Peptide Label: isoform 4
- UniProtKB: Q9P2W1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242943   ⟸   NM_001256014
- Peptide Label: isoform 3
- UniProtKB: K7ERB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000253789   ⟸   ENST00000253789
RefSeq Acc Id: ENSP00000466031   ⟸   ENST00000586337
RefSeq Acc Id: ENSP00000468188   ⟸   ENST00000587209
RefSeq Acc Id: ENSP00000465409   ⟸   ENST00000588544
RefSeq Acc Id: ENSP00000377384   ⟸   ENST00000393795
RefSeq Acc Id: ENSP00000466381   ⟸   ENST00000590760
RefSeq Acc Id: ENSP00000467952   ⟸   ENST00000590931
Protein Domains
Homologous-pairing protein 2 winged helix   Leucine zipper with capping helix

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2W1-F1-model_v2 AlphaFold Q9P2W1 1-217 view protein structure

Promoters
RGD ID:6811333
Promoter ID:HG_ACW:34597
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PSMC3IP.HAPR07-UNSPLICED,   SKOYPLA.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,978,726 - 37,979,226 (+)MPROMDB
RGD ID:6794642
Promoter ID:HG_KWN:26204
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:ENST00000253789,   ENST00000393795,   UC002IAI.1,   UC002IAJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,983,316 - 37,984,207 (-)MPROMDB
RGD ID:7235103
Promoter ID:EPDNEW_H23297
Type:initiation region
Name:PSMC3IP_1
Description:PSMC3 interacting protein
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
GRCh381742,577,684 - 42,577,744EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17928 AgrOrtholog
COSMIC PSMC3IP COSMIC
Ensembl Genes ENSG00000131470 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000253789 ENTREZGENE
  ENST00000253789.9 UniProtKB/Swiss-Prot
  ENST00000393795 ENTREZGENE
  ENST00000393795.8 UniProtKB/Swiss-Prot
  ENST00000586337.5 UniProtKB/TrEMBL
  ENST00000587209 ENTREZGENE
  ENST00000587209.5 UniProtKB/TrEMBL
  ENST00000588544.5 UniProtKB/TrEMBL
  ENST00000590760.5 UniProtKB/Swiss-Prot
  ENST00000590931.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131470 GTEx
HGNC ID HGNC:17928 ENTREZGENE
Human Proteome Map PSMC3IP Human Proteome Map
InterPro Hop2_WH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LZ3wCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/TrEMBL
KEGG Report hsa:29893 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 29893 ENTREZGENE
OMIM 608665 OMIM
PANTHER HOMOLOGOUS-PAIRING PROTEIN 2 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15938 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LZ3wCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBPIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485584 PharmGKB
Superfamily-SCOP SSF46785 UniProtKB/TrEMBL
UniProt A0A158RUX1 ENTREZGENE, UniProtKB/TrEMBL
  C5ILB7 ENTREZGENE
  HOP2_HUMAN UniProtKB/Swiss-Prot
  K7EK12_HUMAN UniProtKB/TrEMBL
  K7ELD8_HUMAN UniProtKB/TrEMBL
  K7EQS1_HUMAN UniProtKB/TrEMBL
  K7ERB6 ENTREZGENE, UniProtKB/TrEMBL
  Q14458 ENTREZGENE
  Q8WXG2 ENTREZGENE
  Q96HA2 ENTREZGENE
  Q9P2W1 ENTREZGENE
UniProt Secondary C5ILB7 UniProtKB/Swiss-Prot
  Q14458 UniProtKB/Swiss-Prot
  Q8WXG2 UniProtKB/Swiss-Prot
  Q96HA2 UniProtKB/Swiss-Prot