SAMD1 (sterile alpha motif domain containing 1) - Rat Genome Database

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Gene: SAMD1 (sterile alpha motif domain containing 1) Homo sapiens
Analyze
Symbol: SAMD1
Name: sterile alpha motif domain containing 1
RGD ID: 1343473
HGNC Page HGNC:17958
Description: Enables chromatin binding activity. Involved in negative regulation of transcription initiation-coupled chromatin remodeling and protein homooligomerization. Is active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: atherin; SAM domain containing 1; SAM domain-containing protein 1; sterile alpha motif 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
NCBI Annotation Information: Annotation category: suggests misassembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381914,087,851 - 14,090,751 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1914,087,851 - 14,091,036 (-)EnsemblGRCh38hg38GRCh38
GRCh371914,198,663 - 14,201,563 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361914,060,229 - 14,062,232 (-)NCBINCBI36Build 36hg18NCBI36
Build 341914,060,228 - 14,062,232NCBI
Celera1914,093,031 - 14,122,123 (-)NCBICelera
Cytogenetic Map19p13.12NCBI
HuRef1913,770,885 - 13,799,416 (-)NCBIHuRef
CHM1_11914,199,799 - 14,201,760 (-)NCBICHM1_1
T2T-CHM13v2.01914,214,143 - 14,217,618 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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:12477932   PMID:16159594   PMID:19322201   PMID:19531213   PMID:21653829   PMID:21873635   PMID:22939629   PMID:24163370   PMID:24292625   PMID:24981860   PMID:25593309   PMID:25609649  
PMID:25665578   PMID:26186194   PMID:26496610   PMID:26949251   PMID:27703004   PMID:27705803   PMID:27976729   PMID:28514442   PMID:29509190   PMID:30804502   PMID:31091453   PMID:31527615  
PMID:31586073   PMID:31753913   PMID:32694731   PMID:32891193   PMID:32971831   PMID:33961781   PMID:33980486   PMID:34006929   PMID:34709266   PMID:34917906   PMID:35016035   PMID:35271311  
PMID:35563538   PMID:35915203   PMID:36089195   PMID:36543142   PMID:36574265   PMID:37317656   PMID:37609425   PMID:37904675  


Genomics

Comparative Map Data
SAMD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381914,087,851 - 14,090,751 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1914,087,851 - 14,091,036 (-)EnsemblGRCh38hg38GRCh38
GRCh371914,198,663 - 14,201,563 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361914,060,229 - 14,062,232 (-)NCBINCBI36Build 36hg18NCBI36
Build 341914,060,228 - 14,062,232NCBI
Celera1914,093,031 - 14,122,123 (-)NCBICelera
Cytogenetic Map19p13.12NCBI
HuRef1913,770,885 - 13,799,416 (-)NCBIHuRef
CHM1_11914,199,799 - 14,201,760 (-)NCBICHM1_1
T2T-CHM13v2.01914,214,143 - 14,217,618 (-)NCBIT2T-CHM13v2.0
Samd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39884,724,145 - 84,727,044 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl884,724,130 - 84,727,038 (+)EnsemblGRCm39 Ensembl
GRCm38883,997,516 - 84,000,415 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl883,997,501 - 84,000,409 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl883,997,672 - 84,000,409 (+)EnsemblGRCm38mm10GRCm38
MGSCv37886,521,571 - 86,524,285 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36886,887,777 - 86,890,491 (+)NCBIMGSCv36mm8
Celera888,278,279 - 88,293,704 (+)NCBICelera
Cytogenetic Map8C2NCBI
cM Map840.24NCBI
Samd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81941,055,898 - 41,059,243 (-)NCBIGRCr8
mRatBN7.21924,151,136 - 24,154,475 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1924,151,128 - 24,154,488 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01925,119,560 - 25,122,781 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1925,120,128 - 25,122,233 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01936,096,683 - 36,099,659 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41925,837,118 - 25,839,193 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11925,841,978 - 25,843,961 (-)NCBI
Celera1923,699,355 - 23,701,352 (-)NCBICelera
Cytogenetic Map19q11NCBI
Samd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541532,789,937 - 32,791,421 (-)NCBIChiLan1.0ChiLan1.0
SAMD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22019,019,983 - 19,023,265 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11918,021,672 - 18,024,901 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01913,653,166 - 13,656,397 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11914,380,192 - 14,381,843 (-)NCBIpanpan1.1PanPan1.1panPan2
SAMD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12048,427,935 - 48,430,703 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2048,302,467 - 48,305,418 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02048,945,742 - 48,948,700 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12048,156,927 - 48,159,873 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02048,583,486 - 48,586,439 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02048,826,306 - 48,829,256 (+)NCBIUU_Cfam_GSD_1.0
Samd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118207,608,258 - 207,609,749 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366592,744,967 - 2,750,135 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SAMD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl265,096,187 - 65,099,794 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1265,096,499 - 65,099,799 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2265,371,876 - 65,373,944 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SAMD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1612,735,255 - 12,743,871 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660746,916,107 - 6,919,352 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Samd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249011,315,854 - 1,318,152 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249011,315,309 - 1,318,167 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SAMD1
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1 copy number loss See cases [RCV000051051] Chr19:13533925..14258833 [GRCh38]
Chr19:13644739..14369645 [GRCh37]
Chr19:13505739..14230645 [NCBI36]
Chr19:19p13.13-13.12		 uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1 copy number loss See cases [RCV000136502] Chr19:13533925..15371089 [GRCh38]
Chr19:13644739..15481900 [GRCh37]
Chr19:13505739..15342900 [NCBI36]
Chr19:19p13.13-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.12(chr19:14194074-14239226)x1 copy number loss not provided [RCV000752568] Chr19:14194074..14239226 [GRCh37]
Chr19:19p13.12		 benign
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)x1 copy number loss See cases [RCV000448818] Chr19:14124666..16431349 [GRCh37]
Chr19:19p13.12-13.11		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1 copy number loss See cases [RCV000511445] Chr19:13592592..14717528 [GRCh37]
Chr19:19p13.2-13.12		 likely pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12		 uncertain significance
NM_138352.3(SAMD1):c.64G>A (p.Ala22Thr) single nucleotide variant not specified [RCV004333864] Chr19:14090357 [GRCh38]
Chr19:14201169 [GRCh37]
Chr19:19p13.12		 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(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.12(chr19:14194936-14202071)x1 copy number loss not provided [RCV000752569] Chr19:14194936..14202071 [GRCh37]
Chr19:19p13.12		 benign
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
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
NM_138352.3(SAMD1):c.83C>A (p.Ser28Tyr) single nucleotide variant not specified [RCV004296546] Chr19:14090338 [GRCh38]
Chr19:14201150 [GRCh37]
Chr19:19p13.12		 uncertain significance
GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349) copy number loss not specified [RCV002052675] Chr19:14124666..16431349 [GRCh37]
Chr19:19p13.12-13.11		 pathogenic
NM_138352.3(SAMD1):c.86C>T (p.Pro29Leu) single nucleotide variant not specified [RCV004162133] Chr19:14090335 [GRCh38]
Chr19:14201147 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_138352.3(SAMD1):c.52A>C (p.Thr18Pro) single nucleotide variant not specified [RCV004222408] Chr19:14090369 [GRCh38]
Chr19:14201181 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_138352.3(SAMD1):c.99G>C (p.Glu33Asp) single nucleotide variant not specified [RCV004124729] Chr19:14090322 [GRCh38]
Chr19:14201134 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_138352.3(SAMD1):c.663A>C (p.Pro221=) single nucleotide variant not provided [RCV003406869] Chr19:14090076 [GRCh38]
Chr19:14200888 [GRCh37]
Chr19:19p13.12		 likely benign
NM_138352.3(SAMD1):c.807C>T (p.Thr269=) single nucleotide variant not provided [RCV003423379] Chr19:14089932 [GRCh38]
Chr19:14200744 [GRCh37]
Chr19:19p13.12		 likely benign
GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3 copy number gain not specified [RCV003986122] Chr19:13970692..18139376 [GRCh37]
Chr19:19p13.13-13.11		 uncertain significance
NM_138352.3(SAMD1):c.660G>C (p.Pro220=) single nucleotide variant not provided [RCV004546039] Chr19:14090079 [GRCh38]
Chr19:14200891 [GRCh37]
Chr19:19p13.12		 likely benign
NM_138352.3(SAMD1):c.49A>C (p.Thr17Pro) single nucleotide variant not specified [RCV004449943] Chr19:14090372 [GRCh38]
Chr19:14201184 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_138352.3(SAMD1):c.50C>G (p.Thr17Ser) single nucleotide variant not specified [RCV004449944] Chr19:14090371 [GRCh38]
Chr19:14201183 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_138352.3(SAMD1):c.17C>G (p.Ala6Gly) single nucleotide variant not specified [RCV004661390] Chr19:14090404 [GRCh38]
Chr19:14201216 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_138352.3(SAMD1):c.38C>G (p.Ala13Gly) single nucleotide variant not specified [RCV004674450] Chr19:14090383 [GRCh38]
Chr19:14201195 [GRCh37]
Chr19:19p13.12		 uncertain significance
NM_138352.3(SAMD1):c.77C>T (p.Ala26Val) single nucleotide variant not specified [RCV004863690] Chr19:14090344 [GRCh38]
Chr19:14201156 [GRCh37]
Chr19:19p13.12		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1253
Count of miRNA genes:678
Interacting mature miRNAs:789
Transcripts:ENST00000269724, ENST00000533683, ENST00000541938
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
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH65125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,207,232 - 14,207,428UniSTSGRCh37
Build 361914,068,232 - 14,068,428RGDNCBI36
Celera1914,101,509 - 14,101,705RGD
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map19p13.12UniSTS
HuRef1913,779,112 - 13,779,308UniSTS
PRKACA__2119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,202,516 - 14,203,371UniSTSGRCh37
Build 361914,063,516 - 14,064,371RGDNCBI36
Celera1914,096,793 - 14,097,648RGD
HuRef1913,774,395 - 13,775,250UniSTS
RH47780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,213,691 - 14,213,838UniSTSGRCh37
Build 361914,074,691 - 14,074,838RGDNCBI36
Celera1914,107,968 - 14,108,115RGD
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map19p13.12UniSTS
HuRef1913,785,571 - 13,785,718UniSTS
GeneMap99-GB4 RH Map1975.35UniSTS
D1S3205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,208,074 - 14,208,214UniSTSGRCh37
Build 361914,069,074 - 14,069,214RGDNCBI36
Celera1914,102,351 - 14,102,491RGD
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map19p13.12UniSTS
HuRef1913,779,954 - 13,780,094UniSTS
Stanford-G3 RH Map19410.0UniSTS
NCBI RH Map1991.5UniSTS
GeneMap99-G3 RH Map19410.0UniSTS
STS-N57750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,207,403 - 14,207,532UniSTSGRCh37
Build 361914,068,403 - 14,068,532RGDNCBI36
Celera1914,101,680 - 14,101,809RGD
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map19p13.12UniSTS
HuRef1913,779,283 - 13,779,412UniSTS
GeneMap99-GB4 RH Map1973.1UniSTS
SHGC-64129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,200,174 - 14,200,315UniSTSGRCh37
Build 361914,061,174 - 14,061,315RGDNCBI36
Celera1914,093,976 - 14,094,117RGD
Cytogenetic Map19p13.12UniSTS
HuRef1913,771,830 - 13,771,971UniSTS
TNG Radiation Hybrid Map195029.0UniSTS
RH69574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,202,582 - 14,202,704UniSTSGRCh37
GRCh37884,883,126 - 84,883,248UniSTSGRCh37
Build 36885,045,681 - 85,045,803RGDNCBI36
Celera880,887,179 - 80,887,301RGD
Celera1914,096,859 - 14,096,981UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map19p13.1UniSTS
HuRef1913,774,461 - 13,774,583UniSTS
HuRef880,374,724 - 80,374,846UniSTS
GeneMap99-GB4 RH Map8400.81UniSTS
NCBI RH Map8878.0UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000269724   ⟹   ENSP00000269724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,088,429 - 14,091,036 (-)Ensembl
Ensembl Acc Id: ENST00000533683   ⟹   ENSP00000431971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,087,851 - 14,090,751 (-)Ensembl
Ensembl Acc Id: ENST00000541938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1914,090,509 - 14,091,013 (-)Ensembl
RefSeq Acc Id: NM_138352   ⟹   NP_612361
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,087,851 - 14,090,751 (-)NCBI
GRCh371914,199,229 - 14,201,232 (-)RGD
Build 361914,060,229 - 14,062,232 (-)NCBI Archive
Celera1914,093,031 - 14,122,123 (-)RGD
HuRef1913,770,885 - 13,799,416 (-)ENTREZGENE
CHM1_11914,199,799 - 14,201,760 (-)NCBI
T2T-CHM13v2.01914,214,143 - 14,217,361 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054322551   ⟹   XP_054178526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01914,214,143 - 14,217,618 (-)NCBI
RefSeq Acc Id: NP_612361   ⟸   NM_138352
- UniProtKB: Q96IM4 (UniProtKB/Swiss-Prot),   Q6SPF0 (UniProtKB/Swiss-Prot),   Q6PIS7 (UniProtKB/Swiss-Prot),   Q6P0R3 (UniProtKB/Swiss-Prot),   E9PIW9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000269724   ⟸   ENST00000269724
Ensembl Acc Id: ENSP00000431971   ⟸   ENST00000533683
RefSeq Acc Id: XP_054178526   ⟸   XM_054322551
- Peptide Label: isoform X1
- UniProtKB: Q96IM4 (UniProtKB/Swiss-Prot),   Q6SPF0 (UniProtKB/Swiss-Prot),   Q6PIS7 (UniProtKB/Swiss-Prot),   Q6P0R3 (UniProtKB/Swiss-Prot),   E9PIW9 (UniProtKB/TrEMBL)
Protein Domains
SAM   SAMD1-like winged helix (WH)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6SPF0-F1-model_v2 AlphaFold Q6SPF0 1-538 view protein structure

Promoters
RGD ID:6796018
Promoter ID:HG_KWN:29094
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000269724,   NM_138352,   UC002MYA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361914,061,721 - 14,063,202 (-)MPROMDB
RGD ID:6796014
Promoter ID:HG_KWN:29095
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000397471
Position:
Human AssemblyChrPosition (strand)Source
Build 361914,063,389 - 14,063,889 (-)MPROMDB
RGD ID:7238819
Promoter ID:EPDNEW_H25155
Type:multiple initiation site
Name:SAMD1_1
Description:sterile alpha motif domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25156  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,090,580 - 14,090,640EPDNEW
RGD ID:7238821
Promoter ID:EPDNEW_H25156
Type:initiation region
Name:SAMD1_2
Description:sterile alpha motif domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25155  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381914,090,703 - 14,090,763EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17958 AgrOrtholog
COSMIC SAMD1 COSMIC
Ensembl Genes ENSG00000141858 Ensembl, ENTREZGENE
  ENSG00000288488 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000533683 ENTREZGENE
  ENST00000673075.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot
GTEx ENSG00000141858 GTEx
  ENSG00000288488 GTEx
HGNC ID HGNC:17958 ENTREZGENE
Human Proteome Map SAMD1 Human Proteome Map
InterPro SAM UniProtKB/Swiss-Prot
  SAM/pointed_sf UniProtKB/Swiss-Prot
  SAMD1-like_WH UniProtKB/Swiss-Prot
KEGG Report hsa:90378 UniProtKB/Swiss-Prot
NCBI Gene SAMD1 ENTREZGENE
OMIM 620206 OMIM
PANTHER ATHERIN UniProtKB/Swiss-Prot
  UPF0575 PROTEIN C19ORF67 UniProtKB/Swiss-Prot
Pfam SAM_1 UniProtKB/Swiss-Prot
  SAMD1_WH UniProtKB/Swiss-Prot
PharmGKB PA34937 PharmGKB
PROSITE SAM_DOMAIN UniProtKB/Swiss-Prot
  SAMD1_WH UniProtKB/Swiss-Prot
RNAcentral URS0000CD9A70 RNACentral
SMART SAM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot
UniProt E9PIW9 ENTREZGENE, UniProtKB/TrEMBL
  F8WDT5_HUMAN UniProtKB/TrEMBL
  Q6P0R3 ENTREZGENE
  Q6PIS7 ENTREZGENE
  Q6SPF0 ENTREZGENE
  Q96IM4 ENTREZGENE
  SAMD1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6P0R3 UniProtKB/Swiss-Prot
  Q6PIS7 UniProtKB/Swiss-Prot
  Q96IM4 UniProtKB/Swiss-Prot