H1-1 (H1.1 linker histone, cluster member) - Rat Genome Database

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Gene: H1-1 (H1.1 linker histone, cluster member) Homo sapiens
Analyze
Symbol: H1-1
Name: H1.1 linker histone, cluster member
RGD ID: 1313894
HGNC Page HGNC:4715
Description: Enables chromatin DNA binding activity. Predicted to be involved in chromosome condensation; negative regulation of DNA recombination; and spermatogenesis. Located in euchromatin and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H1 histone family, member 1; H1.1; H1A; H1F1; HIST1; HIST1H1A; histone 1, H1a; histone cluster 1 H1 family member a; histone cluster 1, H1a; histone H1.1; histone H1a; MGC126642; MGC138345
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
GRCh38626,017,032 - 26,017,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl626,017,032 - 26,017,787 (-)EnsemblGRCh38hg38GRCh38
GRCh37626,017,260 - 26,018,015 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,125,239 - 26,126,019 (-)NCBINCBI36Build 36hg18NCBI36
Build 34626,125,238 - 26,125,995NCBI
Celera627,244,484 - 27,245,264 (-)NCBICelera
Cytogenetic Map6p22.2NCBI
HuRef625,960,326 - 25,961,106 (-)NCBIHuRef
CHM1_1626,019,536 - 26,020,316 (-)NCBICHM1_1
T2T-CHM13v2.0625,882,972 - 25,883,727 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell surface  (IEA)
chromatin  (IDA)
chromosome  (IEA)
euchromatin  (IDA)
nucleoplasm  (IDA)
nucleosome  (IEA)
nucleus  (IBA,IEA)
vesicle  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1989977   PMID:2759094   PMID:7499230   PMID:7629134   PMID:7790358   PMID:7989039   PMID:8003976   PMID:8325638   PMID:8393783   PMID:8397206   PMID:8397207   PMID:8463339  
PMID:8537403   PMID:8565853   PMID:8606778   PMID:8641969   PMID:8647086   PMID:8692842   PMID:8814229   PMID:8867812   PMID:8868473   PMID:9053846   PMID:9119399   PMID:9149941  
PMID:9178893   PMID:9199321   PMID:9325046   PMID:9380407   PMID:9380698   PMID:9464540   PMID:9546435   PMID:9632134   PMID:9744860   PMID:9760185   PMID:9840927   PMID:9860976  
PMID:9873047   PMID:9885575   PMID:9886493   PMID:10022855   PMID:10198259   PMID:10336450   PMID:10362260   PMID:10393546   PMID:10447003   PMID:10523312   PMID:10604467   PMID:10783242  
PMID:10891493   PMID:10891508   PMID:10893414   PMID:11060286   PMID:11063125   PMID:11130728   PMID:11132966   PMID:11160398   PMID:11266453   PMID:11461916   PMID:11467742   PMID:11521189  
PMID:11687586   PMID:11836499   PMID:11940657   PMID:12056906   PMID:12408966   PMID:12477932   PMID:12686141   PMID:12734188   PMID:12963725   PMID:13678583   PMID:14521924   PMID:14595808  
PMID:14597612   PMID:14691455   PMID:14985337   PMID:14985713   PMID:14993289   PMID:15064750   PMID:15205535   PMID:15308690   PMID:15456770   PMID:15489334   PMID:15554878   PMID:15574121  
PMID:15583032   PMID:15595731   PMID:15619620   PMID:15695403   PMID:15911621   PMID:15927069   PMID:15998794   PMID:16029324   PMID:16203725   PMID:16314418   PMID:16314512   PMID:16431907  
PMID:16431923   PMID:16622419   PMID:16696975   PMID:16854430   PMID:16878158   PMID:16962592   PMID:17048991   PMID:17214964   PMID:17254966   PMID:17293600   PMID:17369848   PMID:17371838  
PMID:17431037   PMID:17620599   PMID:18667424   PMID:18695677   PMID:19107194   PMID:19223857   PMID:19631451   PMID:19882353   PMID:19895577   PMID:20064938   PMID:20110360   PMID:20236090  
PMID:20356835   PMID:20431927   PMID:20551309   PMID:20800603   PMID:20923784   PMID:20974803   PMID:21044950   PMID:21078675   PMID:21088490   PMID:21145483   PMID:21241890   PMID:21282530  
PMID:21425800   PMID:21871177   PMID:21873635   PMID:21924351   PMID:21940793   PMID:22158041   PMID:22539978   PMID:22586326   PMID:22650316   PMID:23455924   PMID:23463506   PMID:23776205  
PMID:23933584   PMID:24189400   PMID:24360965   PMID:24525734   PMID:24571573   PMID:24601643   PMID:25315684   PMID:25417162   PMID:25482132   PMID:25860957   PMID:25948554   PMID:25963833  
PMID:26182371   PMID:26186194   PMID:26206088   PMID:26318153   PMID:26468281   PMID:26598620   PMID:26689747   PMID:27068241   PMID:27166195   PMID:27316643   PMID:28302793   PMID:28361854  
PMID:28514442   PMID:28521470   PMID:29180619   PMID:29229926   PMID:29467282   PMID:29568061   PMID:29651006   PMID:29764937   PMID:29845934   PMID:30021884   PMID:30745168   PMID:30884312  
PMID:30902546   PMID:31006538   PMID:31048545   PMID:31343991   PMID:31586073   PMID:32687490   PMID:33288900   PMID:33567341   PMID:33961781   PMID:34299191   PMID:34349018   PMID:34663856  
PMID:35182466   PMID:35235311   PMID:35575683   PMID:35831314   PMID:36180920   PMID:36282215   PMID:36607699   PMID:36897778   PMID:37071682   PMID:37223481   PMID:37317656   PMID:37689310  
PMID:38334954  


Genomics

Comparative Map Data
H1-1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38626,017,032 - 26,017,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl626,017,032 - 26,017,787 (-)EnsemblGRCh38hg38GRCh38
GRCh37626,017,260 - 26,018,015 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,125,239 - 26,126,019 (-)NCBINCBI36Build 36hg18NCBI36
Build 34626,125,238 - 26,125,995NCBI
Celera627,244,484 - 27,245,264 (-)NCBICelera
Cytogenetic Map6p22.2NCBI
HuRef625,960,326 - 25,961,106 (-)NCBIHuRef
CHM1_1626,019,536 - 26,020,316 (-)NCBICHM1_1
T2T-CHM13v2.0625,882,972 - 25,883,727 (-)NCBIT2T-CHM13v2.0
H1f1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391323,947,651 - 23,948,395 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1323,947,649 - 23,948,389 (+)EnsemblGRCm39 Ensembl
GRCm381323,763,668 - 23,764,412 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1323,763,666 - 23,764,406 (+)EnsemblGRCm38mm10GRCm38
MGSCv371323,855,537 - 23,856,283 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361323,771,133 - 23,771,879 (+)NCBIMGSCv36mm8
Celera1323,995,434 - 23,996,176 (+)NCBICelera
Cytogenetic Map13A3.1NCBI
cM Map139.91NCBI
H1f1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81741,762,278 - 41,794,876 (-)NCBIGRCr8
mRatBN7.21741,366,268 - 41,367,011 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1741,366,268 - 41,367,011 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1741,440,327 - 41,441,067 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01743,044,373 - 43,045,113 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01741,323,040 - 41,323,783 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01743,614,101 - 43,614,844 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1743,614,101 - 43,614,844 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01745,468,486 - 45,469,229 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41748,526,427 - 48,527,170 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11748,529,313 - 48,530,006 (+)NCBI
Celera1740,997,741 - 40,998,484 (-)NCBICelera
Cytogenetic Map17p11NCBI
H1-1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955483996,019 - 1,008,034 (+)NCBIChiLan1.0ChiLan1.0
H1-1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2540,660,272 - 40,666,076 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1636,664,358 - 36,665,112 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0625,850,443 - 25,851,223 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1626,508,422 - 26,509,202 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl626,508,481 - 26,509,128 (-)Ensemblpanpan1.1panPan2
H1-1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13523,973,893 - 23,974,739 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3523,844,635 - 23,853,151 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03524,081,162 - 24,089,678 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3524,088,968 - 24,089,615 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13523,897,517 - 23,906,023 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03523,950,255 - 23,957,087 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03525,381,155 - 25,389,674 (-)NCBIUU_Cfam_GSD_1.0
H1-1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049461,743,534 - 1,745,376 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366711,877,303 - 1,877,959 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366711,876,497 - 1,878,006 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
H1-1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1720,717,123 - 20,717,916 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
H1-1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11746,235,596 - 46,239,777 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1746,237,985 - 46,238,629 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604425,952,657 - 25,953,597 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
H1-1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624756885,994 - 886,641 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624756885,994 - 901,354 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in H1-1
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33
pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33
pathogenic
GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3 copy number gain See cases [RCV000139521] Chr6:25991402..26280693 [GRCh38]
Chr6:25991630..26280921 [GRCh37]
Chr6:26099609..26388900 [NCBI36]
Chr6:6p22.2
likely benign
GRCh38/hg38 6p22.2(chr6:25991391-26116829)x3 copy number gain See cases [RCV000140950] Chr6:25991391..26116829 [GRCh38]
Chr6:25991619..26117057 [GRCh37]
Chr6:26099598..26225036 [NCBI36]
Chr6:6p22.2
likely benign
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p22.2(chr6:25839165-26536884)x4 copy number gain See cases [RCV000447433] Chr6:25839165..26536884 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_005325.4(H1-1):c.541G>A (p.Ala181Thr) single nucleotide variant not specified [RCV004324360] Chr6:26017192 [GRCh38]
Chr6:26017420 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3 copy number gain not provided [RCV000682656] Chr6:25851789..26319486 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.2(chr6:25996066-26303969)x3 copy number gain not provided [RCV000847447] Chr6:25996066..26303969 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:25896585-26287389)x4 copy number gain not provided [RCV000845790] Chr6:25896585..26287389 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:26008259-26168230)x1 copy number loss not provided [RCV001834493] Chr6:26008259..26168230 [GRCh37]
Chr6:6p22.2
pathogenic
GRCh37/hg19 6p22.2(chr6:25839165-26536884) copy number gain not specified [RCV002053562] Chr6:25839165..26536884 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.127G>A (p.Val43Met) single nucleotide variant not specified [RCV004250622] Chr6:26017606 [GRCh38]
Chr6:26017834 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.28G>A (p.Ala10Thr) single nucleotide variant not specified [RCV004255311] Chr6:26017705 [GRCh38]
Chr6:26017933 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.148G>A (p.Ala50Thr) single nucleotide variant not specified [RCV004336491] Chr6:26017585 [GRCh38]
Chr6:26017813 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.218G>A (p.Gly73Asp) single nucleotide variant not specified [RCV004355635] Chr6:26017515 [GRCh38]
Chr6:26017743 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.588G>C (p.Lys196Asn) single nucleotide variant not specified [RCV004357769] Chr6:26017145 [GRCh38]
Chr6:26017373 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.78A>C (p.Lys26Asn) single nucleotide variant not specified [RCV004352980] Chr6:26017655 [GRCh38]
Chr6:26017883 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.200A>T (p.Lys67Met) single nucleotide variant not specified [RCV004356117] Chr6:26017533 [GRCh38]
Chr6:26017761 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1 copy number loss not provided [RCV003485505] Chr6:21704602..26187420 [GRCh37]
Chr6:6p22.3-22.2
likely pathogenic
NM_005325.4(H1-1):c.30C>T (p.Ala10=) single nucleotide variant not provided [RCV003430095] Chr6:26017703 [GRCh38]
Chr6:26017931 [GRCh37]
Chr6:6p22.2
likely benign
NM_005325.4(H1-1):c.603G>A (p.Lys201=) single nucleotide variant not provided [RCV003428763] Chr6:26017130 [GRCh38]
Chr6:26017358 [GRCh37]
Chr6:6p22.2
likely benign
NM_005325.4(H1-1):c.16C>T (p.Pro6Ser) single nucleotide variant not specified [RCV004388815] Chr6:26017717 [GRCh38]
Chr6:26017945 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.193C>T (p.Leu65Phe) single nucleotide variant not specified [RCV004388816] Chr6:26017540 [GRCh38]
Chr6:26017768 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.194T>C (p.Leu65Pro) single nucleotide variant not specified [RCV004388817] Chr6:26017539 [GRCh38]
Chr6:26017767 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.22G>T (p.Ala8Ser) single nucleotide variant not specified [RCV004388818] Chr6:26017711 [GRCh38]
Chr6:26017939 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.259A>C (p.Ile87Leu) single nucleotide variant not specified [RCV004388819] Chr6:26017474 [GRCh38]
Chr6:26017702 [GRCh37]
Chr6:6p22.2
likely benign
NM_005325.4(H1-1):c.266G>A (p.Ser89Asn) single nucleotide variant not specified [RCV004388820] Chr6:26017467 [GRCh38]
Chr6:26017695 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.281G>A (p.Gly94Glu) single nucleotide variant not specified [RCV004388821] Chr6:26017452 [GRCh38]
Chr6:26017680 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.307G>C (p.Gly103Arg) single nucleotide variant not specified [RCV004388822] Chr6:26017426 [GRCh38]
Chr6:26017654 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.35C>T (p.Ser12Phe) single nucleotide variant not specified [RCV004388823] Chr6:26017698 [GRCh38]
Chr6:26017926 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.472A>G (p.Lys158Glu) single nucleotide variant not specified [RCV004388824] Chr6:26017261 [GRCh38]
Chr6:26017489 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.494C>T (p.Ser165Phe) single nucleotide variant not specified [RCV004388825] Chr6:26017239 [GRCh38]
Chr6:26017467 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.53C>T (p.Pro18Leu) single nucleotide variant not specified [RCV004388826] Chr6:26017680 [GRCh38]
Chr6:26017908 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.106A>G (p.Lys36Glu) single nucleotide variant not specified [RCV004388807] Chr6:26017627 [GRCh38]
Chr6:26017855 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.11C>G (p.Thr4Arg) single nucleotide variant not specified [RCV004388808] Chr6:26017722 [GRCh38]
Chr6:26017950 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.122C>T (p.Pro41Leu) single nucleotide variant not specified [RCV004388809] Chr6:26017611 [GRCh38]
Chr6:26017839 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.133G>A (p.Glu45Lys) single nucleotide variant not specified [RCV004388811] Chr6:26017600 [GRCh38]
Chr6:26017828 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.142G>A (p.Val48Met) single nucleotide variant not specified [RCV004388812] Chr6:26017591 [GRCh38]
Chr6:26017819 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.155C>T (p.Ser52Phe) single nucleotide variant not specified [RCV004388813] Chr6:26017578 [GRCh38]
Chr6:26017806 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.158C>T (p.Ser53Phe) single nucleotide variant not specified [RCV004388814] Chr6:26017575 [GRCh38]
Chr6:26017803 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.589G>T (p.Ala197Ser) single nucleotide variant not specified [RCV004388828] Chr6:26017144 [GRCh38]
Chr6:26017372 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.62G>C (p.Gly21Ala) single nucleotide variant not specified [RCV004388829] Chr6:26017671 [GRCh38]
Chr6:26017899 [GRCh37]
Chr6:6p22.2
likely benign
NM_005325.4(H1-1):c.64A>G (p.Lys22Glu) single nucleotide variant not specified [RCV004388830] Chr6:26017669 [GRCh38]
Chr6:26017897 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.69G>C (p.Lys23Asn) single nucleotide variant not specified [RCV004388831] Chr6:26017664 [GRCh38]
Chr6:26017892 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.71C>A (p.Ala24Glu) single nucleotide variant not specified [RCV004627226] Chr6:26017662 [GRCh38]
Chr6:26017890 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.29C>T (p.Ala10Val) single nucleotide variant not specified [RCV004627227] Chr6:26017704 [GRCh38]
Chr6:26017932 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.323T>C (p.Phe108Ser) single nucleotide variant not specified [RCV004627229] Chr6:26017410 [GRCh38]
Chr6:26017638 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.79C>T (p.Pro27Ser) single nucleotide variant not specified [RCV004627223] Chr6:26017654 [GRCh38]
Chr6:26017882 [GRCh37]
Chr6:6p22.2
uncertain significance
NM_005325.4(H1-1):c.103A>G (p.Lys35Glu) single nucleotide variant not specified [RCV004627228] Chr6:26017630 [GRCh38]
Chr6:26017858 [GRCh37]
Chr6:6p22.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:138
Count of miRNA genes:136
Interacting mature miRNAs:138
Transcripts:ENST00000244573
Prediction methods: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
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
407185958GWAS834934_Hpeptide measurement QTL GWAS834934 (human)0.000006peptide metabolism trait (VT:0010634)62601731426017315Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
406992347GWAS641323_Hserum IgA measurement QTL GWAS641323 (human)0.000002serum IgA measurementserum immunoglobulin A level (CMO:0002095)62601731426017315Human
407235100GWAS884076_HInguinal hernia QTL GWAS884076 (human)4e-08Inguinal hernia62601731426017315Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human

Markers in Region
STS-Z46261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,021,118 - 26,021,257UniSTSGRCh37
Build 36626,129,097 - 26,129,236RGDNCBI36
Celera627,248,342 - 27,248,481RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6p22.1UniSTS
HuRef625,964,184 - 25,964,323UniSTS
GeneMap99-GB4 RH Map6105.5UniSTS
PMC316937P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,020,520 - 26,020,693UniSTSGRCh37
Build 36626,128,499 - 26,128,672RGDNCBI36
Celera627,247,744 - 27,247,917RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6p22.1UniSTS
HuRef625,963,586 - 25,963,759UniSTS
RH46871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,021,119 - 26,021,256UniSTSGRCh37
Build 36626,129,098 - 26,129,235RGDNCBI36
Celera627,248,343 - 27,248,480RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6p22.1UniSTS
HuRef625,964,185 - 25,964,322UniSTS
GeneMap99-GB4 RH Map6105.5UniSTS
UniSTS:481727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,017,263 - 26,018,010UniSTSGRCh37
Celera627,244,487 - 27,245,234UniSTS
HuRef625,960,329 - 25,961,076UniSTS
UniSTS:486945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,017,248 - 26,018,040UniSTSGRCh37
Celera627,244,472 - 27,245,264UniSTS
HuRef625,960,314 - 25,961,106UniSTS


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
renal system
reproductive system
respiratory system
sensory system
174 357 341 501 980 796 902 2 225 360 207 449 1469 1212 25 701 201 858 638 31

Sequence


Ensembl Acc Id: ENST00000244573   ⟹   ENSP00000244573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,017,032 - 26,017,787 (-)Ensembl
RefSeq Acc Id: NM_005325   ⟹   NP_005316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,017,032 - 26,017,787 (-)NCBI
GRCh37626,017,260 - 26,018,040 (-)ENTREZGENE
Build 36626,125,239 - 26,126,019 (-)NCBI Archive
HuRef625,960,326 - 25,961,106 (-)ENTREZGENE
CHM1_1626,019,536 - 26,020,316 (-)NCBI
T2T-CHM13v2.0625,882,972 - 25,883,727 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005316   ⟸   NM_005325
- UniProtKB: Q3MJ34 (UniProtKB/Swiss-Prot),   Q02539 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000244573   ⟸   ENST00000244573
Protein Domains
H15

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02539-F1-model_v2 AlphaFold Q02539 1-215 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4715 AgrOrtholog
COSMIC H1-1 COSMIC
Ensembl Genes ENSG00000124610 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000244573 ENTREZGENE
  ENST00000244573.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000124610 GTEx
HGNC ID HGNC:4715 ENTREZGENE
Human Proteome Map H1-1 Human Proteome Map
InterPro Histone_H1/H5_H15 UniProtKB/Swiss-Prot
  Histone_H5 UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3024 UniProtKB/Swiss-Prot
NCBI Gene 3024 ENTREZGENE
OMIM 142709 OMIM
PANTHER HISTONE H1 UniProtKB/Swiss-Prot
  HISTONE H1.1 UniProtKB/Swiss-Prot
Pfam Linker_histone UniProtKB/Swiss-Prot
PharmGKB PA166351832 PharmGKB
PRINTS HISTONEH5 UniProtKB/Swiss-Prot
PROSITE H15 UniProtKB/Swiss-Prot
SMART H15 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
UniProt H11_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3MJ34 ENTREZGENE
UniProt Secondary Q3MJ34 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-30 H1-1  H1.1 linker histone, cluster member  HIST1H1A  histone cluster 1 H1 family member a  Symbol and/or name change 5135510 APPROVED
2016-08-23 HIST1H1A  histone cluster 1 H1 family member a    histone cluster 1, H1a  Symbol and/or name change 5135510 APPROVED