PIH1D1 (PIH1 domain containing 1) - Rat Genome Database

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Gene: PIH1D1 (PIH1 domain containing 1) Homo sapiens
Analyze
Symbol: PIH1D1
Name: PIH1 domain containing 1
RGD ID: 1605995
HGNC Page HGNC:26075
Description: Enables several functions, including enzyme binding activity; histone binding activity; and phosphoprotein binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of signal transduction; and protein-containing complex assembly. Located in cytoplasm and nucleolus. Part of R2TP complex; RPAP3/R2TP/prefoldin-like complex; and pre-snoRNP complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DNAAF14; dynein axonemal assembly factor 14; FLJ20643; MOT48; NOP17; nucleolar protein 17 homolog; Pih1; PIH1 domain-containing protein 1
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
GRCh381949,446,298 - 49,451,814 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,446,298 - 49,453,497 (-)Ensemblhg38GRCh38
GRCh371949,949,555 - 49,955,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,641,368 - 54,646,879 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1946,817,056 - 46,822,614 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,326,202 - 46,331,760 (-)NCBIHuRef
CHM1_11949,951,377 - 49,956,935 (-)NCBICHM1_1
T2T-CHM13v2.01952,443,763 - 52,449,272 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889549   PMID:12477932   PMID:14676191   PMID:15670595   PMID:16189514   PMID:17207965   PMID:17636026   PMID:17643375   PMID:19450687   PMID:19875381   PMID:20078948   PMID:20371770  
PMID:20801936   PMID:20864032   PMID:21078300   PMID:21492153   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22368283   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23159623  
PMID:23667685   PMID:24036451   PMID:24366813   PMID:24656813   PMID:24981860   PMID:25036637   PMID:25404746   PMID:25416956   PMID:25659891   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26638075   PMID:26673895   PMID:26711270   PMID:26760575   PMID:26990986   PMID:27173435   PMID:27432908   PMID:27780869   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28515276  
PMID:28561026   PMID:28718761   PMID:28986522   PMID:29229926   PMID:29395067   PMID:29662061   PMID:30021884   PMID:30033218   PMID:30344098   PMID:30572598   PMID:30884312   PMID:31048545  
PMID:31586073   PMID:31617661   PMID:31738558   PMID:32296183   PMID:32513696   PMID:32640226   PMID:32707033   PMID:32877691   PMID:33001583   PMID:33397691   PMID:33417871   PMID:33853758  
PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34315543   PMID:34597346   PMID:34709727   PMID:35007762   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35676246  
PMID:35844135   PMID:35944360   PMID:35973513   PMID:36215168   PMID:36674791   PMID:37108203   PMID:37478862   PMID:37528093   PMID:37682707   PMID:37689310   PMID:37827155   PMID:38803224  
PMID:38943005  


Genomics

Comparative Map Data
PIH1D1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,446,298 - 49,451,814 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,446,298 - 49,453,497 (-)Ensemblhg38GRCh38
GRCh371949,949,555 - 49,955,071 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,641,368 - 54,646,879 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1946,817,056 - 46,822,614 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,326,202 - 46,331,760 (-)NCBIHuRef
CHM1_11949,951,377 - 49,956,935 (-)NCBICHM1_1
T2T-CHM13v2.01952,443,763 - 52,449,272 (-)NCBIT2T-CHM13v2.0
Pih1d1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,800,036 - 44,809,489 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,803,727 - 44,809,489 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38745,150,613 - 45,160,065 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,154,303 - 45,160,065 (+)Ensemblmm10GRCm38
MGSCv37752,409,768 - 52,415,434 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36745,022,440 - 45,028,106 (+)NCBIMGSCv36mm8
Celera740,610,286 - 40,615,950 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.16NCBI
Pih1d1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,774,562 - 104,781,757 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1104,776,082 - 104,781,756 (+)EnsemblGRCr8
mRatBN7.2195,639,597 - 95,645,295 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,639,592 - 95,645,290 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1101,026,613 - 101,030,686 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,499,280 - 109,503,353 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,789,689 - 102,793,758 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01101,151,240 - 101,156,806 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1101,152,734 - 101,156,805 (+)Ensemblrn6Rnor6.0
Rnor_5.01102,216,207 - 102,221,753 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4195,632,212 - 95,636,284 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera189,899,502 - 89,903,575 (+)NCBICelera
RGSC_v3.1195,710,322 - 95,714,394 (+)NCBI
Cytogenetic Map1q22NCBI
Pih1d1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,391,314 - 1,396,329 (+)Ensembl
ChiLan1.0NW_0049555591,390,823 - 1,395,550 (+)NCBIChiLan1.0ChiLan1.0
PIH1D1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,562,919 - 55,569,494 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,483,262 - 57,489,336 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,459,855 - 46,465,882 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,382,078 - 55,387,663 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,381,803 - 55,387,664 (-)EnsemblpanPan2panpan1.1
PIH1D1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,045,466 - 107,051,281 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,045,697 - 107,051,236 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1106,628,774 - 106,634,554 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01107,565,568 - 107,571,349 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,565,763 - 107,571,345 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11107,238,579 - 107,244,359 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01106,880,914 - 106,886,696 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,721,786 - 107,727,567 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Pih1d1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,703,088 - 21,708,453 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,321,136 - 3,326,093 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,321,278 - 3,326,720 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIH1D1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,524,172 - 54,535,249 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1654,524,172 - 54,529,700 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,253,127 - 50,258,631 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIH1D1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,627,125 - 42,633,467 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl642,627,097 - 42,632,932 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607322,554,872 - 22,561,331 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pih1d1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,757,344 - 4,762,181 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248324,757,367 - 4,761,974 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in PIH1D1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_017916.3(PIH1D1):c.728G>A (p.Arg243His) single nucleotide variant not specified [RCV004320696] Chr19:49446654 [GRCh38]
Chr19:49949911 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_017916.3(PIH1D1):c.503G>A (p.Arg168Gln) single nucleotide variant not specified [RCV004286502] Chr19:49447446 [GRCh38]
Chr19:49950703 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_017916.3(PIH1D1):c.443A>T (p.Glu148Val) single nucleotide variant not specified [RCV004320775] Chr19:49447865 [GRCh38]
Chr19:49951122 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.530A>G (p.Gln177Arg) single nucleotide variant not specified [RCV004183412] Chr19:49447419 [GRCh38]
Chr19:49950676 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.786G>T (p.Gln262His) single nucleotide variant not specified [RCV004093131] Chr19:49446596 [GRCh38]
Chr19:49949853 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.250G>A (p.Glu84Lys) single nucleotide variant not specified [RCV004164228] Chr19:49449562 [GRCh38]
Chr19:49952819 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.584C>T (p.Thr195Met) single nucleotide variant not specified [RCV004225553] Chr19:49447365 [GRCh38]
Chr19:49950622 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.488G>A (p.Arg163His) single nucleotide variant not specified [RCV004078794] Chr19:49447461 [GRCh38]
Chr19:49950718 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.791A>C (p.Asn264Thr) single nucleotide variant not specified [RCV004276320] Chr19:49446591 [GRCh38]
Chr19:49949848 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.433A>T (p.Ile145Phe) single nucleotide variant not specified [RCV004308620] Chr19:49447875 [GRCh38]
Chr19:49951132 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.323C>A (p.Ala108Glu) single nucleotide variant not specified [RCV004306655] Chr19:49449489 [GRCh38]
Chr19:49952746 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.362A>C (p.Asp121Ala) single nucleotide variant not specified [RCV004358775] Chr19:49448038 [GRCh38]
Chr19:49951295 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.212A>G (p.His71Arg) single nucleotide variant not specified [RCV004361255] Chr19:49449600 [GRCh38]
Chr19:49952857 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_017916.3(PIH1D1):c.553C>T (p.Pro185Ser) single nucleotide variant not specified [RCV004503784] Chr19:49447396 [GRCh38]
Chr19:49950653 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.133T>A (p.Ser45Thr) single nucleotide variant not specified [RCV004503782] Chr19:49450806 [GRCh38]
Chr19:49954063 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.835T>G (p.Leu279Val) single nucleotide variant not specified [RCV004503786] Chr19:49446420 [GRCh38]
Chr19:49949677 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.296T>C (p.Ile99Thr) single nucleotide variant not specified [RCV004503783] Chr19:49449516 [GRCh38]
Chr19:49952773 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.784C>A (p.Gln262Lys) single nucleotide variant not specified [RCV004503785] Chr19:49446598 [GRCh38]
Chr19:49949855 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49713446)_(50413064_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV004581120] Chr19:49713446..50413064 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.247G>A (p.Glu83Lys) single nucleotide variant not specified [RCV004648210] Chr19:49449565 [GRCh38]
Chr19:49952822 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.27G>A (p.Met9Ile) single nucleotide variant not specified [RCV004850438] Chr19:49451548 [GRCh38]
Chr19:49954805 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.68G>T (p.Arg23Leu) single nucleotide variant not specified [RCV004844464] Chr19:49451507 [GRCh38]
Chr19:49954764 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.280C>A (p.Gln94Lys) single nucleotide variant not specified [RCV004844463] Chr19:49449532 [GRCh38]
Chr19:49952789 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.502C>T (p.Arg168Trp) single nucleotide variant not specified [RCV004844462] Chr19:49447447 [GRCh38]
Chr19:49950704 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.368C>T (p.Ala123Val) single nucleotide variant not specified [RCV004844461] Chr19:49448032 [GRCh38]
Chr19:49951289 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.266T>C (p.Met89Thr) single nucleotide variant not specified [RCV005389349] Chr19:49449546 [GRCh38]
Chr19:49952803 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_017916.3(PIH1D1):c.524C>T (p.Ser175Leu) single nucleotide variant not specified [RCV005389350] Chr19:49447425 [GRCh38]
Chr19:49950682 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:6690
Count of miRNA genes:1005
Interacting mature miRNAs:1264
Transcripts:ENST00000262265, ENST00000593629, ENST00000593900, ENST00000594845, ENST00000595074, ENST00000595516, ENST00000595550, ENST00000595633, ENST00000596049, ENST00000596651, ENST00000596895, ENST00000596916, ENST00000597415, ENST00000597577, ENST00000598175, ENST00000598889, ENST00000599366, ENST00000599791, ENST00000600875, ENST00000601053, ENST00000601807, ENST00000601825, ENST00000602076, ENST00000602226
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
A002I45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,949,600 - 49,949,885UniSTSGRCh37
Build 361954,641,412 - 54,641,697RGDNCBI36
Celera1946,817,106 - 46,817,391RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,326,252 - 46,326,537UniSTS
GeneMap99-GB4 RH Map19268.11UniSTS
Whitehead-RH Map19349.9UniSTS
RH16140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,949,662 - 49,949,918UniSTSGRCh37
Build 361954,641,474 - 54,641,730RGDNCBI36
Celera1946,817,168 - 46,817,424RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,326,314 - 46,326,570UniSTS
GeneMap99-GB4 RH Map19267.69UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7305 6471 53 3734 1 851 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_017916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA018444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC385084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262265   ⟹   ENSP00000262265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,298 - 49,451,814 (-)Ensembl
Ensembl Acc Id: ENST00000593629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,448,574 (-)Ensembl
Ensembl Acc Id: ENST00000593900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,447,710 - 49,451,817 (-)Ensembl
Ensembl Acc Id: ENST00000594845   ⟹   ENSP00000470322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,448,062 (-)Ensembl
Ensembl Acc Id: ENST00000595074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,448,992 - 49,451,791 (-)Ensembl
Ensembl Acc Id: ENST00000595516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,447,287 - 49,451,800 (-)Ensembl
Ensembl Acc Id: ENST00000595550   ⟹   ENSP00000472571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,450,891 - 49,451,901 (-)Ensembl
Ensembl Acc Id: ENST00000595633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,298 - 49,447,177 (-)Ensembl
Ensembl Acc Id: ENST00000596049   ⟹   ENSP00000470445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,369 - 49,453,494 (-)Ensembl
Ensembl Acc Id: ENST00000596651   ⟹   ENSP00000470639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,449,643 (-)Ensembl
Ensembl Acc Id: ENST00000596895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,447,214 - 49,448,010 (-)Ensembl
Ensembl Acc Id: ENST00000596916   ⟹   ENSP00000472065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,298 - 49,450,836 (-)Ensembl
Ensembl Acc Id: ENST00000597415   ⟹   ENSP00000469793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,447,424 - 49,453,497 (-)Ensembl
Ensembl Acc Id: ENST00000597577   ⟹   ENSP00000472715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,448,041 (-)Ensembl
Ensembl Acc Id: ENST00000598175   ⟹   ENSP00000470875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,448,010 (-)Ensembl
Ensembl Acc Id: ENST00000598889   ⟹   ENSP00000470947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,449,520 (-)Ensembl
Ensembl Acc Id: ENST00000599366   ⟹   ENSP00000469087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,447,375 - 49,453,495 (-)Ensembl
Ensembl Acc Id: ENST00000599791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,449,111 - 49,451,748 (-)Ensembl
Ensembl Acc Id: ENST00000600875   ⟹   ENSP00000473095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,449,587 (-)Ensembl
Ensembl Acc Id: ENST00000601053   ⟹   ENSP00000473100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,742 - 49,451,530 (-)Ensembl
Ensembl Acc Id: ENST00000601807   ⟹   ENSP00000469693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,401 - 49,451,601 (-)Ensembl
Ensembl Acc Id: ENST00000601825   ⟹   ENSP00000471275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,449,566 - 49,453,493 (-)Ensembl
Ensembl Acc Id: ENST00000602076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,446,899 (-)Ensembl
Ensembl Acc Id: ENST00000602226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,299 - 49,447,045 (-)Ensembl
Ensembl Acc Id: ENST00000715674   ⟹   ENSP00000520492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,369 - 49,453,494 (-)Ensembl
Ensembl Acc Id: ENST00000715675   ⟹   ENSP00000520493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,446,369 - 49,453,494 (-)Ensembl
RefSeq Acc Id: NM_017916   ⟹   NP_060386
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,446,298 - 49,451,814 (-)NCBI
GRCh371949,949,550 - 49,955,266 (-)NCBI
Build 361954,641,368 - 54,646,879 (-)NCBI Archive
Celera1946,817,056 - 46,822,614 (-)RGD
HuRef1946,326,202 - 46,331,760 (-)ENTREZGENE
CHM1_11949,951,377 - 49,956,935 (-)NCBI
T2T-CHM13v2.01952,443,763 - 52,449,272 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451570   ⟹   XP_024307338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,446,298 - 49,449,654 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439024   ⟹   XP_047294980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,446,656 - 49,451,814 (-)NCBI
RefSeq Acc Id: XM_047439025   ⟹   XP_047294981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,447,430 - 49,451,814 (-)NCBI
RefSeq Acc Id: XM_054321344   ⟹   XP_054177319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,444,121 - 52,449,272 (-)NCBI
RefSeq Acc Id: XM_054321345   ⟹   XP_054177320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,444,895 - 52,449,272 (-)NCBI
RefSeq Acc Id: XM_054321346   ⟹   XP_054177321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,443,763 - 52,447,119 (-)NCBI
RefSeq Acc Id: NP_060386   ⟸   NM_017916
- UniProtKB: B4E2X7 (UniProtKB/Swiss-Prot),   B4DGN7 (UniProtKB/Swiss-Prot),   Q9BVL0 (UniProtKB/Swiss-Prot),   Q9NWS0 (UniProtKB/Swiss-Prot),   M0QYA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307338   ⟸   XM_024451570
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000470322   ⟸   ENST00000594845
Ensembl Acc Id: ENSP00000472571   ⟸   ENST00000595550
Ensembl Acc Id: ENSP00000472065   ⟸   ENST00000596916
Ensembl Acc Id: ENSP00000470639   ⟸   ENST00000596651
Ensembl Acc Id: ENSP00000470445   ⟸   ENST00000596049
Ensembl Acc Id: ENSP00000472715   ⟸   ENST00000597577
Ensembl Acc Id: ENSP00000469793   ⟸   ENST00000597415
Ensembl Acc Id: ENSP00000470947   ⟸   ENST00000598889
Ensembl Acc Id: ENSP00000470875   ⟸   ENST00000598175
Ensembl Acc Id: ENSP00000469087   ⟸   ENST00000599366
Ensembl Acc Id: ENSP00000473095   ⟸   ENST00000600875
Ensembl Acc Id: ENSP00000469693   ⟸   ENST00000601807
Ensembl Acc Id: ENSP00000471275   ⟸   ENST00000601825
Ensembl Acc Id: ENSP00000473100   ⟸   ENST00000601053
Ensembl Acc Id: ENSP00000262265   ⟸   ENST00000262265
RefSeq Acc Id: XP_047294980   ⟸   XM_047439024
- Peptide Label: isoform X1
- UniProtKB: M0QXD5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047294981   ⟸   XM_047439025
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177321   ⟸   XM_054321346
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054177319   ⟸   XM_054321344
- Peptide Label: isoform X1
- UniProtKB: M0QXD5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177320   ⟸   XM_054321345
- Peptide Label: isoform X2
Ensembl Acc Id: ENSP00000520493   ⟸   ENST00000715675
Ensembl Acc Id: ENSP00000520492   ⟸   ENST00000715674
Protein Domains
PIH1 N-terminal   PIH1D1/2/3 CS-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NWS0-F1-model_v2 AlphaFold Q9NWS0 1-290 view protein structure

Promoters
RGD ID:13205123
Promoter ID:EPDNEW_H26142
Type:initiation region
Name:PIH1D1_1
Description:PIH1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26144  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,451,814 - 49,451,874EPDNEW
RGD ID:13205129
Promoter ID:EPDNEW_H26144
Type:initiation region
Name:PIH1D1_2
Description:PIH1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26142  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,453,483 - 49,453,543EPDNEW
RGD ID:6795890
Promoter ID:HG_KWN:30540
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:NM_017916
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,646,636 - 54,647,136 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26075 AgrOrtholog
COSMIC PIH1D1 COSMIC
Ensembl Genes ENSG00000104872 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262265 ENTREZGENE
  ENST00000262265.10 UniProtKB/Swiss-Prot
  ENST00000596049.5 UniProtKB/Swiss-Prot
  ENST00000715674 ENTREZGENE
GTEx ENSG00000104872 GTEx
HGNC ID HGNC:26075 ENTREZGENE
Human Proteome Map PIH1D1 Human Proteome Map
InterPro PIH1/Kintoun_subfamily UniProtKB/Swiss-Prot
  PIH1_N UniProtKB/Swiss-Prot
  PIH1D1/2/3_CS-like UniProtKB/Swiss-Prot
KEGG Report hsa:55011 UniProtKB/Swiss-Prot
NCBI Gene 55011 ENTREZGENE
OMIM 611480 OMIM
PANTHER PIH1 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  UNCHARACTERIZED UniProtKB/Swiss-Prot
Pfam PIH1 UniProtKB/Swiss-Prot
  PIH1_CS UniProtKB/Swiss-Prot
PharmGKB PA162399535 PharmGKB
UniProt A0AAQ5BIG8_HUMAN UniProtKB/TrEMBL
  A0AAQ5BIK2_HUMAN UniProtKB/TrEMBL
  B4DGN7 ENTREZGENE
  B4E2X7 ENTREZGENE
  M0QXD5 ENTREZGENE, UniProtKB/TrEMBL
  M0QYA2 ENTREZGENE, UniProtKB/TrEMBL
  M0QYF4_HUMAN UniProtKB/TrEMBL
  M0QZ61_HUMAN UniProtKB/TrEMBL
  M0QZM3_HUMAN UniProtKB/TrEMBL
  M0QZZ1_HUMAN UniProtKB/TrEMBL
  M0R028_HUMAN UniProtKB/TrEMBL
  M0R0J2_HUMAN UniProtKB/TrEMBL
  M0R1R3_HUMAN UniProtKB/TrEMBL
  M0R2H3_HUMAN UniProtKB/TrEMBL
  M0R2P8_HUMAN UniProtKB/TrEMBL
  M0R3A4_HUMAN UniProtKB/TrEMBL
  M0R3A8_HUMAN UniProtKB/TrEMBL
  PIHD1_HUMAN UniProtKB/Swiss-Prot
  Q9BVL0 ENTREZGENE
  Q9NWS0 ENTREZGENE
UniProt Secondary B4DGN7 UniProtKB/Swiss-Prot
  B4E2X7 UniProtKB/Swiss-Prot
  Q9BVL0 UniProtKB/Swiss-Prot