SNAPIN (SNAP associated protein) - Rat Genome Database

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Gene: SNAPIN (SNAP associated protein) Homo sapiens
Analyze
Symbol: SNAPIN
Name: SNAP associated protein
RGD ID: 1351269
HGNC Page HGNC:17145
Description: Enables SNARE binding activity. Involved in lysosome localization and synaptic vesicle transport. Acts upstream of or within endosome to lysosome transport and synaptic vesicle exocytosis. Located in perinuclear region of cytoplasm and synaptic vesicle. Part of BLOC-1 complex and BORC complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: biogenesis of lysosomal organelles complex-1, subunit 7; biogenesis of lysosome-related organelles complex 1 subunit 7; BLOC-1 related complex subunit 3; BLOC-1 subunit 7; BLOC1S7; BLOS7; BORCS3; SNAP-25-binding protein; SNAPAP; SNARE associated protein snapin; SNARE-associated protein Snapin; synaptosomal-associated protein 25-binding protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,658,654 - 153,661,852 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,658,703 - 153,661,852 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,631,130 - 153,634,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,897,824 - 151,900,930 (+)NCBINCBI36Build 36hg18NCBI36
Build 341150,444,272 - 150,447,378NCBI
Celera1126,702,324 - 126,705,505 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,994,466 - 124,997,664 (+)NCBIHuRef
CHM1_11155,027,119 - 155,030,317 (+)NCBICHM1_1
T2T-CHM13v2.01152,795,919 - 152,799,117 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
protein binding  (IPI,ISO)
SNARE binding  (IBA,IDA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10195194   PMID:11283605   PMID:12107412   PMID:12477932   PMID:12659861   PMID:12809483   PMID:12877659   PMID:14702039   PMID:15066994   PMID:15102850   PMID:15231748   PMID:15489334  
PMID:15546961   PMID:15635093   PMID:15862967   PMID:16169070   PMID:16330323   PMID:16448387   PMID:16980328   PMID:17101137   PMID:17684020   PMID:17702749   PMID:18029348   PMID:18068530  
PMID:18167355   PMID:18624398   PMID:19168546   PMID:19515809   PMID:20237496   PMID:20360068   PMID:21102408   PMID:21356520   PMID:21873635   PMID:21917956   PMID:21988832   PMID:22203680  
PMID:22471585   PMID:22523426   PMID:22779921   PMID:22797916   PMID:22890573   PMID:23414517   PMID:23949442   PMID:24751478   PMID:25476789   PMID:25898167   PMID:25907116   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26514267   PMID:26638075   PMID:26687946   PMID:26972000   PMID:27240978   PMID:27915047   PMID:27929705   PMID:28514442   PMID:28923824   PMID:29568061  
PMID:31314175   PMID:31694235   PMID:31871319   PMID:32296183   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34194388   PMID:34432599   PMID:34681928   PMID:34709727   PMID:35914814  
PMID:35944360   PMID:36300783  


Genomics

Comparative Map Data
SNAPIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381153,658,654 - 153,661,852 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1153,658,703 - 153,661,852 (+)EnsemblGRCh38hg38GRCh38
GRCh371153,631,130 - 153,634,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361151,897,824 - 151,900,930 (+)NCBINCBI36Build 36hg18NCBI36
Build 341150,444,272 - 150,447,378NCBI
Celera1126,702,324 - 126,705,505 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1124,994,466 - 124,997,664 (+)NCBIHuRef
CHM1_11155,027,119 - 155,030,317 (+)NCBICHM1_1
T2T-CHM13v2.01152,795,919 - 152,799,117 (+)NCBIT2T-CHM13v2.0
Snapin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39390,395,333 - 90,398,320 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl390,395,333 - 90,398,340 (-)EnsemblGRCm39 Ensembl
GRCm38390,488,026 - 90,491,013 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl390,488,026 - 90,491,033 (-)EnsemblGRCm38mm10GRCm38
MGSCv37390,291,948 - 90,294,935 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36390,573,961 - 90,576,931 (-)NCBIMGSCv36mm8
Celera390,525,872 - 90,528,858 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.24NCBI
Snapin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82178,269,157 - 178,271,746 (-)NCBIGRCr8
mRatBN7.22175,971,575 - 175,974,164 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2175,971,257 - 175,974,231 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2183,111,652 - 183,114,246 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02181,133,916 - 181,136,510 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02175,734,232 - 175,736,824 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02189,878,159 - 189,880,743 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2189,878,168 - 189,880,743 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02209,309,032 - 209,311,616 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42182,762,310 - 182,764,481 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2169,907,172 - 169,909,756 (-)NCBICelera
Cytogenetic Map2q34NCBI
Snapin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955545306,546 - 308,229 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955545306,546 - 308,229 (+)NCBIChiLan1.0ChiLan1.0
SNAPIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2196,170,659 - 96,173,840 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1195,903,764 - 95,909,036 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01129,014,668 - 129,018,428 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11132,644,319 - 132,647,095 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1132,644,320 - 132,647,095 (+)Ensemblpanpan1.1panPan2
SNAPIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1743,410,554 - 43,411,929 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl743,410,998 - 43,412,323 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha742,903,507 - 42,904,962 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0743,360,183 - 43,361,638 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl743,358,154 - 43,362,026 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1743,062,261 - 43,063,711 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0743,115,755 - 43,117,214 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0743,399,406 - 43,400,865 (-)NCBIUU_Cfam_GSD_1.0
Snapin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505824,433,043 - 24,436,084 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365803,462,987 - 3,464,214 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365803,449,585 - 3,464,709 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNAPIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl495,984,358 - 95,989,474 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1495,987,524 - 95,989,527 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24104,880,697 - 104,882,699 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SNAPIN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12010,147,577 - 10,150,721 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2010,148,099 - 10,150,641 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660389,524,858 - 9,528,002 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snapin
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248853,490,321 - 3,491,946 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248853,490,321 - 3,491,963 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNAPIN
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 copy number gain See cases [RCV000051530] Chr1:153641117..153752390 [GRCh38]
Chr1:153613593..153724866 [GRCh37]
Chr1:151880217..151991490 [NCBI36]
Chr1:1q21.3		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 copy number gain See cases [RCV000148158] Chr1:153641117..153752390 [GRCh38]
Chr1:153613593..153724866 [GRCh37]
Chr1:151880217..151991490 [NCBI36]
Chr1:1q21.3		 uncertain significance
NM_012437.6(SNAPIN):c.163C>T (p.Arg55Trp) single nucleotide variant Abnormal brain morphology [RCV000454257] Chr1:153659157 [GRCh38]
Chr1:153631633 [GRCh37]
Chr1:1q21.3		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_012437.6(SNAPIN):c.238C>G (p.Pro80Ala) single nucleotide variant Inborn genetic diseases [RCV003304854] Chr1:153659495 [GRCh38]
Chr1:153631971 [GRCh37]
Chr1:1q21.3		 uncertain significance
Single allele duplication not provided [RCV000677956] Chr1:153615996..153724866 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.3(chr1:153488723-153750339)x3 copy number gain not provided [RCV000749192] Chr1:153488723..153750339 [GRCh37]
Chr1:1q21.3		 benign
GRCh37/hg19 1q21.3(chr1:153321482-153835605)x3 copy number gain not provided [RCV000847221] Chr1:153321482..153835605 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3 copy number gain not provided [RCV001005141] Chr1:153061323..153904594 [GRCh37]
Chr1:1q21.3		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
GRCh37/hg19 1q21.3(chr1:153460453-153737619)x3 copy number gain not provided [RCV003484040] Chr1:153460453..153737619 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.3(chr1:153354333-153703053)x3 copy number gain not specified [RCV003987106] Chr1:153354333..153703053 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:739
Count of miRNA genes:496
Interacting mature miRNAs:535
Transcripts:ENST00000368685, ENST00000462880, ENST00000474959, ENST00000478558
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
RH12842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,634,673 - 153,634,802UniSTSGRCh37
Build 361151,901,297 - 151,901,426RGDNCBI36
Celera1126,705,852 - 126,705,981RGD
Cytogenetic Map1q21.3UniSTS
HuRef1124,998,009 - 124,998,138UniSTS
GeneMap99-GB4 RH Map1555.98UniSTS
NCBI RH Map11222.2UniSTS
WI-15073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,634,149 - 153,634,273UniSTSGRCh37
Build 361151,900,773 - 151,900,897RGDNCBI36
Celera1126,705,328 - 126,705,452RGD
Cytogenetic Map1q21.3UniSTS
HuRef1124,997,485 - 124,997,609UniSTS
GeneMap99-GB4 RH Map1552.65UniSTS
GeneMap99-GB4 RH Map1557.59UniSTS
Whitehead-RH Map1672.3UniSTS
NCBI RH Map11270.6UniSTS
Cda0cg07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,634,303 - 153,634,387UniSTSGRCh37
Build 361151,900,927 - 151,901,011RGDNCBI36
Celera1126,705,482 - 126,705,566RGD
Cytogenetic Map1q21.3UniSTS
HuRef1124,997,639 - 124,997,723UniSTS
GeneMap99-GB4 RH Map1552.61UniSTS
GeneMap99-GB4 RH Map1555.98UniSTS
NCBI RH Map11261.4UniSTS
NCBI RH Map11081.0UniSTS
WI-17491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,633,740 - 153,633,889UniSTSGRCh37
Build 361151,900,364 - 151,900,513RGDNCBI36
Celera1126,704,919 - 126,705,068RGD
Cytogenetic Map1q21.3UniSTS
HuRef1124,997,076 - 124,997,225UniSTS
GeneMap99-GB4 RH Map1552.5UniSTS
GeneMap99-GB4 RH Map1552.65UniSTS
Whitehead-RH Map1677.7UniSTS
NCBI RH Map11102.0UniSTS
A007E12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371153,634,066 - 153,634,276UniSTSGRCh37
Build 361151,900,690 - 151,900,900RGDNCBI36
Celera1126,705,245 - 126,705,455RGD
Cytogenetic Map1q21.3UniSTS
HuRef1124,997,402 - 124,997,612UniSTS
GeneMap99-GB4 RH Map1558.07UniSTS
NCBI RH Map11301.1UniSTS
D14S1187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371436,523,120 - 36,523,222UniSTSGRCh37
GRCh371153,634,600 - 153,634,699UniSTSGRCh37
Build 361151,901,224 - 151,901,323RGDNCBI36
Celera1416,386,306 - 16,386,408UniSTS
Celera1126,705,779 - 126,705,878RGD
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1124,997,936 - 124,998,035UniSTS
HuRef1416,636,859 - 16,636,961UniSTS
Stanford-G3 RH Map141054.0UniSTS
NCBI RH Map14188.4UniSTS
GeneMap99-G3 RH Map141054.0UniSTS


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 1
Medium 2428 2654 1706 605 1671 446 4357 2140 3687 414 1459 1611 175 1 1204 2788 6 2
Low 11 337 20 19 280 19 57 47 5 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA173972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI018675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE278772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI117540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM051828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD671119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368685   ⟹   ENSP00000357674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,658,703 - 153,661,852 (+)Ensembl
RefSeq Acc Id: ENST00000462880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,658,714 - 153,661,829 (+)Ensembl
RefSeq Acc Id: ENST00000474959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,658,712 - 153,661,250 (+)Ensembl
RefSeq Acc Id: ENST00000478558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1153,658,727 - 153,661,564 (+)Ensembl
RefSeq Acc Id: NM_012437   ⟹   NP_036569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,658,703 - 153,661,852 (+)NCBI
GRCh371153,631,130 - 153,634,328 (+)NCBI
Build 361151,897,824 - 151,900,930 (+)NCBI Archive
HuRef1124,994,466 - 124,997,664 (+)NCBI
CHM1_11155,027,119 - 155,030,317 (+)NCBI
T2T-CHM13v2.01152,795,968 - 152,799,117 (+)NCBI
Sequence:
RefSeq Acc Id: NR_052019
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,658,654 - 153,661,852 (+)NCBI
GRCh371153,631,130 - 153,634,328 (+)NCBI
HuRef1124,994,466 - 124,997,664 (+)NCBI
CHM1_11155,027,119 - 155,030,317 (+)NCBI
T2T-CHM13v2.01152,795,919 - 152,799,117 (+)NCBI
Sequence:
RefSeq Acc Id: NR_052020
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381153,658,654 - 153,661,852 (+)NCBI
GRCh371153,631,130 - 153,634,328 (+)NCBI
HuRef1124,994,466 - 124,997,664 (+)NCBI
CHM1_11155,027,119 - 155,030,317 (+)NCBI
T2T-CHM13v2.01152,795,919 - 152,799,117 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_036569   ⟸   NM_012437
- UniProtKB: D3DV56 (UniProtKB/Swiss-Prot),   Q5SXU8 (UniProtKB/Swiss-Prot),   O95295 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000357674   ⟸   ENST00000368685

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95295-F1-model_v2 AlphaFold O95295 1-136 view protein structure

Promoters
RGD ID:6786900
Promoter ID:HG_KWN:5208
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000090036,   OTTHUMT00000090037,   OTTHUMT00000090038,   OTTHUMT00000090039
Position:
Human AssemblyChrPosition (strand)Source
Build 361151,897,666 - 151,898,166 (+)MPROMDB
RGD ID:6857262
Promoter ID:EPDNEW_H1796
Type:initiation region
Name:SNAPIN_1
Description:SNAP associated 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
GRCh381153,658,705 - 153,658,765EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17145 AgrOrtholog
COSMIC SNAPIN COSMIC
Ensembl Genes ENSG00000143553 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368685 ENTREZGENE
  ENST00000368685.6 UniProtKB/Swiss-Prot
  ENST00000462880 ENTREZGENE
GTEx ENSG00000143553 GTEx
HGNC ID HGNC:17145 ENTREZGENE
Human Proteome Map SNAPIN Human Proteome Map
InterPro Snapin UniProtKB/Swiss-Prot
  Snapin/Pallidin/Snn1 UniProtKB/Swiss-Prot
KEGG Report hsa:23557 UniProtKB/Swiss-Prot
NCBI Gene 23557 ENTREZGENE
OMIM 607007 OMIM
PANTHER PTHR31305 UniProtKB/Swiss-Prot
  SNARE-ASSOCIATED PROTEIN SNAPIN UniProtKB/Swiss-Prot
Pfam Snapin_Pallidin UniProtKB/Swiss-Prot
PharmGKB PA162404012 PharmGKB
PIRSF Snapin UniProtKB/Swiss-Prot
UniProt D3DV56 ENTREZGENE
  O95295 ENTREZGENE
  Q5SXU8 ENTREZGENE
  SNAPN_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DV56 UniProtKB/Swiss-Prot
  Q5SXU8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 SNAPIN  SNAP associated protein    SNAP-associated protein  Symbol and/or name change 5135510 APPROVED