SPAG17 (sperm associated antigen 17) - Rat Genome Database

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Gene: SPAG17 (sperm associated antigen 17) Homo sapiens
Analyze
Symbol: SPAG17
Name: sperm associated antigen 17
RGD ID: 1601710
HGNC Page HGNC
Description: Predicted to be involved in axonemal central apparatus assembly and epithelial cilium movement involved in extracellular fluid movement. Predicted to be located in extracellular region; microtubule; and motile cilium. Predicted to be active in axonemal central apparatus. Implicated in spermatogenic failure.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CT143; DKFZp434B0610; FLJ34497; FLJ44343; FLJ44353; PF6; projection protein PF6 homolog; RP4-776P7.2; sperm-associated antigen 17; SPGF55
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
GRCh38.p13 Ensembl1117,953,590 - 118,185,228 (-)EnsemblGRCh38hg38GRCh38
GRCh381117,953,590 - 118,185,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371118,496,213 - 118,727,851 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,297,811 - 118,529,357 (-)NCBINCBI36hg18NCBI36
Celera1116,723,952 - 116,955,535 (-)NCBI
Cytogenetic Map1p12NCBI
HuRef1116,352,708 - 116,584,124 (-)NCBIHuRef
CHM1_11118,611,575 - 118,843,130 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15827353   PMID:16344560   PMID:18029348   PMID:18391952   PMID:18559567   PMID:19266077   PMID:20546612   PMID:20846217   PMID:20881960   PMID:21150711  
PMID:21873635   PMID:23251661   PMID:23563607   PMID:23708190   PMID:25281659   PMID:25429064   PMID:25798074   PMID:26017218   PMID:26785425   PMID:28548327   PMID:29117863   PMID:29174089  
PMID:30021884   PMID:30575818   PMID:31586073  


Genomics

Comparative Map Data
SPAG17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1117,953,590 - 118,185,228 (-)EnsemblGRCh38hg38GRCh38
GRCh381117,953,590 - 118,185,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371118,496,213 - 118,727,851 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,297,811 - 118,529,357 (-)NCBINCBI36hg18NCBI36
Celera1116,723,952 - 116,955,535 (-)NCBI
Cytogenetic Map1p12NCBI
HuRef1116,352,708 - 116,584,124 (-)NCBIHuRef
CHM1_11118,611,575 - 118,843,130 (-)NCBICHM1_1
Spag17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39399,792,653 - 100,050,638 (+)NCBIGRCm39mm39
GRCm39 Ensembl399,792,722 - 100,050,638 (+)Ensembl
GRCm38399,885,417 - 100,143,322 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl399,885,406 - 100,143,322 (+)EnsemblGRCm38mm10GRCm38
MGSCv37399,689,340 - 99,947,245 (+)NCBIGRCm37mm9NCBIm37
MGSCv363100,014,493 - 100,271,849 (+)NCBImm8
Celera3102,093,645 - 102,348,668 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
Spag17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22187,264,004 - 187,511,061 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2187,264,009 - 187,510,501 (+)Ensembl
Rnor_6.02202,159,659 - 202,452,361 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2202,200,797 - 202,443,026 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02221,837,514 - 221,849,735 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02221,858,583 - 221,903,718 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02221,623,554 - 221,784,884 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42194,845,206 - 195,089,225 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2179,716,884 - 179,959,180 (+)NCBICelera
Cytogenetic Map2q34NCBI
Spag17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543521,078,646 - 21,282,043 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543521,063,005 - 21,281,997 (-)NCBIChiLan1.0ChiLan1.0
SPAG17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11119,335,369 - 119,556,711 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0184,339,906 - 84,571,723 (+)NCBIMhudiblu_PPA_v0panPan3
SPAG17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11755,248,136 - 55,468,036 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1755,248,137 - 55,467,902 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1754,891,599 - 55,114,823 (-)NCBI
ROS_Cfam_1.01756,127,507 - 56,346,757 (-)NCBI
UMICH_Zoey_3.11755,161,427 - 55,381,719 (-)NCBI
UNSW_CanFamBas_1.01755,199,577 - 55,419,614 (-)NCBI
UU_Cfam_GSD_1.01755,774,338 - 56,001,496 (-)NCBI
Spag17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505811,287,645 - 11,496,064 (+)NCBI
SpeTri2.0NW_0049366273,002,893 - 3,201,294 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPAG17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14102,596,465 - 102,826,213 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24112,361,404 - 112,451,393 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPAG17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12015,545,340 - 15,780,126 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2015,579,532 - 15,767,354 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603818,210,829 - 18,453,389 (+)NCBIVero_WHO_p1.0
Spag17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477213,626,247 - 13,836,442 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D1S2669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,502,705 - 118,502,869UniSTSGRCh37
Build 361118,304,228 - 118,304,392RGDNCBI36
Celera1116,730,369 - 116,730,533RGD
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map1p12UniSTS
HuRef1417,331,910 - 17,333,164UniSTS
HuRef1116,359,125 - 116,359,291UniSTS
Marshfield Genetic Map1151.34UniSTS
Marshfield Genetic Map1151.34RGD
Genethon Genetic Map1156.1UniSTS
TNG Radiation Hybrid Map165200.0UniSTS
deCODE Assembly Map1139.9UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL033783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,600,304 - 118,600,450UniSTSGRCh37
Build 361118,401,827 - 118,401,973RGDNCBI36
Celera1116,827,968 - 116,828,114RGD
Cytogenetic Map1p12UniSTS
HuRef1116,456,720 - 116,456,866UniSTS
WDR3__5087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,502,336 - 118,503,092UniSTSGRCh37
Build 361118,303,859 - 118,304,615RGDNCBI36
Celera1116,730,000 - 116,730,756RGD
AL009508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,706,969 - 118,707,138UniSTSGRCh37
Build 361118,508,492 - 118,508,661RGDNCBI36
Celera1116,934,660 - 116,934,829RGD
Cytogenetic Map1p12UniSTS
HuRef1116,563,249 - 116,563,418UniSTS
UniSTS:64952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,645,610 - 118,645,714UniSTSGRCh37
Build 361118,447,133 - 118,447,237RGDNCBI36
Celera1116,873,277 - 116,873,381RGD
HuRef1116,501,866 - 116,501,970UniSTS
AL009658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,597,153 - 118,597,292UniSTSGRCh37
Build 361118,398,676 - 118,398,815RGDNCBI36
Celera1116,824,817 - 116,824,956RGD
Cytogenetic Map1p12UniSTS
HuRef1116,453,569 - 116,453,708UniSTS
PF6__5669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,496,135 - 118,496,668UniSTSGRCh37
Build 361118,297,658 - 118,298,191RGDNCBI36
Celera1116,723,799 - 116,724,332RGD
HuRef1116,352,555 - 116,353,088UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1820
Count of miRNA genes:854
Interacting mature miRNAs:996
Transcripts:ENST00000336338, ENST00000437255, ENST00000463628, ENST00000465053, ENST00000466857, ENST00000469128, ENST00000470550, ENST00000473472, ENST00000477444, ENST00000478697, ENST00000483383, ENST00000486589, ENST00000492438
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 46 1 1 1 93 3 375 69 1
Low 220 5 924 79 21 19 715 211 907 313 407 1061 65 220 288 3
Below cutoff 2041 2524 604 401 1271 303 3418 1811 2687 83 633 407 106 981 2339 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK091816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY555274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB060943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB340825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF989715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM370394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336338   ⟹   ENSP00000337804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,953,590 - 118,185,228 (-)Ensembl
RefSeq Acc Id: ENST00000437255   ⟹   ENSP00000402749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,965,097 - 118,008,070 (-)Ensembl
RefSeq Acc Id: ENST00000463628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1118,085,978 - 118,087,162 (-)Ensembl
RefSeq Acc Id: ENST00000465053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1118,150,397 - 118,185,223 (-)Ensembl
RefSeq Acc Id: ENST00000466857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,953,861 - 117,964,810 (-)Ensembl
RefSeq Acc Id: ENST00000469128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,953,873 - 117,970,118 (-)Ensembl
RefSeq Acc Id: ENST00000470550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1118,025,264 - 118,040,767 (-)Ensembl
RefSeq Acc Id: ENST00000473472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1118,073,941 - 118,081,296 (-)Ensembl
RefSeq Acc Id: ENST00000477444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1118,054,054 - 118,081,486 (-)Ensembl
RefSeq Acc Id: ENST00000478697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,953,864 - 117,966,752 (-)Ensembl
RefSeq Acc Id: ENST00000483383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,973,482 - 117,987,992 (-)Ensembl
RefSeq Acc Id: ENST00000486589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1118,031,746 - 118,039,342 (-)Ensembl
RefSeq Acc Id: ENST00000492438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1117,971,780 - 117,984,748 (-)Ensembl
RefSeq Acc Id: NM_206996   ⟹   NP_996879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,590 - 118,185,228 (-)NCBI
GRCh371118,496,288 - 118,727,848 (-)RGD
Build 361118,297,811 - 118,529,357 (-)NCBI Archive
Celera1116,723,952 - 116,955,535 (-)RGD
HuRef1116,352,708 - 116,584,124 (-)RGD
CHM1_11118,611,575 - 118,843,130 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710426   ⟹   XP_006710489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,185,225 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710427   ⟹   XP_006710490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,185,225 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710428   ⟹   XP_006710491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,076,499 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710429   ⟹   XP_006710492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,081,486 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710431   ⟹   XP_006710494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,055,764 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540934   ⟹   XP_011539236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,851 - 118,185,225 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540935   ⟹   XP_011539237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,150,626 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540936   ⟹   XP_011539238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,088,163 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540937   ⟹   XP_011539239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,091,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540939   ⟹   XP_011539241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,076,499 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540941   ⟹   XP_011539243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,081,296 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540942   ⟹   XP_011539244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,861 - 118,076,499 (-)NCBI
Sequence:
RefSeq Acc Id: XR_946574
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381117,953,851 - 118,185,225 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_996879   ⟸   NM_206996
- UniProtKB: Q6Q759 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006710490   ⟸   XM_006710427
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006710489   ⟸   XM_006710426
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006710492   ⟸   XM_006710429
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006710491   ⟸   XM_006710428
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006710494   ⟸   XM_006710431
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011539236   ⟸   XM_011540934
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011539237   ⟸   XM_011540935
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011539239   ⟸   XM_011540937
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011539238   ⟸   XM_011540936
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011539243   ⟸   XM_011540941
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011539241   ⟸   XM_011540939
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011539244   ⟸   XM_011540942
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000337804   ⟸   ENST00000336338
RefSeq Acc Id: ENSP00000402749   ⟸   ENST00000437255

Promoters
RGD ID:6856772
Promoter ID:EPDNEW_H1551
Type:initiation region
Name:SPAG17_1
Description:sperm associated antigen 17
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
GRCh381118,185,207 - 118,185,267EPDNEW
RGD ID:6786916
Promoter ID:HG_KWN:4361
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_206996,   OTTHUMT00000033725
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,528,886 - 118,529,386 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_206996.4(SPAG17):c.4343G>A (p.Arg1448Gln) single nucleotide variant SPERMATOGENIC FAILURE 55 [RCV001526834] Chr1:118012317 [GRCh38]
Chr1:118554940 [GRCh37]
Chr1:1p12
pathogenic
GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1 copy number loss See cases [RCV000051079] Chr1:116679122..119290029 [GRCh38]
Chr1:117221744..119832652 [GRCh37]
Chr1:117023267..119634175 [NCBI36]
Chr1:1p13.1-12
pathogenic
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 copy number gain See cases [RCV000051831] Chr1:116059621..120130051 [GRCh38]
Chr1:116602242..120672637 [GRCh37]
Chr1:116403765..120474160 [NCBI36]
Chr1:1p13.1-12
pathogenic
NM_206996.2(SPAG17):c.1411C>T (p.Pro471Ser) single nucleotide variant Malignant melanoma [RCV000064046] Chr1:118086957 [GRCh38]
Chr1:118629580 [GRCh37]
Chr1:118431103 [NCBI36]
Chr1:1p12
not provided
NM_206996.2(SPAG17):c.5355C>T (p.Ser1785=) single nucleotide variant Malignant melanoma [RCV000059849] Chr1:117992472 [GRCh38]
Chr1:118535095 [GRCh37]
Chr1:118336618 [NCBI36]
Chr1:1p12
not provided
NM_206996.4(SPAG17):c.4445G>T (p.Arg1482Leu) single nucleotide variant not provided [RCV000144676] Chr1:118008186 [GRCh38]
Chr1:118550809 [GRCh37]
Chr1:1p12
uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12
pathogenic
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000504571] Chr1:118093260 [GRCh38]
Chr1:118635883 [GRCh37]
Chr1:1p12
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
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
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
NM_206996.4(SPAG17):c.4922+10T>C single nucleotide variant not provided [RCV000963769] Chr1:117996588 [GRCh38]
Chr1:118539211 [GRCh37]
Chr1:1p12
benign
NM_206996.4(SPAG17):c.2716T>C (p.Ser906Pro) single nucleotide variant not provided [RCV000880977] Chr1:118055739 [GRCh38]
Chr1:118598362 [GRCh37]
Chr1:1p12
benign
NM_206996.4(SPAG17):c.3177T>C (p.Phe1059=) single nucleotide variant not provided [RCV000970422] Chr1:118039434 [GRCh38]
Chr1:118582057 [GRCh37]
Chr1:1p12
benign
NM_206996.4(SPAG17):c.6142-7T>C single nucleotide variant not provided [RCV000946486] Chr1:117972054 [GRCh38]
Chr1:118514677 [GRCh37]
Chr1:1p12
benign
NM_206996.4(SPAG17):c.6008C>G (p.Ala2003Gly) single nucleotide variant not provided [RCV000946487] Chr1:117973558 [GRCh38]
Chr1:118516181 [GRCh37]
Chr1:1p12
benign
NM_206996.4(SPAG17):c.3450T>C (p.Asp1150=) single nucleotide variant not provided [RCV000974161] Chr1:118031851 [GRCh38]
Chr1:118574474 [GRCh37]
Chr1:1p12
benign
NM_206996.4(SPAG17):c.430C>T (p.Arg144Trp) single nucleotide variant not provided [RCV000957786] Chr1:118115327 [GRCh38]
Chr1:118657950 [GRCh37]
Chr1:1p12
benign
NM_206996.4(SPAG17):c.1684C>G (p.Gln562Glu) single nucleotide variant not provided [RCV000955769] Chr1:118086000 [GRCh38]
Chr1:118628623 [GRCh37]
Chr1:1p12
benign
GRCh37/hg19 1p12(chr1:118445052-118676705)x3 copy number gain not provided [RCV001258445] Chr1:118445052..118676705 [GRCh37]
Chr1:1p12
likely benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizures [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26620 AgrOrtholog
COSMIC SPAG17 COSMIC
Ensembl Genes ENSG00000155761 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337804 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402749 UniProtKB/TrEMBL
Ensembl Transcript ENST00000336338 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000437255 UniProtKB/TrEMBL
GTEx ENSG00000155761 GTEx
HGNC ID HGNC:26620 ENTREZGENE
Human Proteome Map SPAG17 Human Proteome Map
InterPro SPAG17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:200162 UniProtKB/Swiss-Prot
NCBI Gene 200162 ENTREZGENE
OMIM 616554 OMIM
  619380 OMIM
PANTHER PTHR21963 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670888 PharmGKB
UniProt A7LBF9_HUMAN UniProtKB/TrEMBL
  E0ZS55_HUMAN UniProtKB/TrEMBL
  Q5TDG6_HUMAN UniProtKB/TrEMBL
  Q6Q759 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8NAZ1 UniProtKB/Swiss-Prot
  Q9NT21 UniProtKB/Swiss-Prot