GAPT (GRB2 binding adaptor protein, transmembrane) - Rat Genome Database

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Gene: GAPT (GRB2 binding adaptor protein, transmembrane) Homo sapiens
Analyze
Symbol: GAPT
Name: GRB2 binding adaptor protein, transmembrane
RGD ID: 1604723
HGNC Page HGNC:26588
Description: Predicted to be involved in B cell homeostasis and B cell proliferation involved in immune response. Located in Golgi apparatus and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C5orf29; FLJ33641; GRB2-binding adapter protein, transmembrane; GRB2-binding adaptor protein, transmembrane; GRB2-binding transmembrane adaptor; growth factor receptor-bound protein 2-binding adapter protein, transmembrane; MGC70478
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
GRCh38558,491,435 - 58,497,090 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl558,491,435 - 58,497,090 (+)EnsemblGRCh38hg38GRCh38
GRCh37557,787,262 - 57,792,917 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36557,823,087 - 57,827,942 (+)NCBINCBI36Build 36hg18NCBI36
Celera554,725,819 - 54,730,674 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef554,744,437 - 54,749,291 (+)NCBIHuRef
CHM1_1557,786,938 - 57,791,793 (+)NCBICHM1_1
T2T-CHM13v2.0559,309,277 - 59,314,932 (+)NCBIT2T-CHM13v2.0
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

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:9628821   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:21873635  


Genomics

Comparative Map Data
GAPT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38558,491,435 - 58,497,090 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl558,491,435 - 58,497,090 (+)EnsemblGRCh38hg38GRCh38
GRCh37557,787,262 - 57,792,917 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36557,823,087 - 57,827,942 (+)NCBINCBI36Build 36hg18NCBI36
Celera554,725,819 - 54,730,674 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef554,744,437 - 54,749,291 (+)NCBIHuRef
CHM1_1557,786,938 - 57,791,793 (+)NCBICHM1_1
T2T-CHM13v2.0559,309,277 - 59,314,932 (+)NCBIT2T-CHM13v2.0
Gapt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913110,489,148 - 110,493,739 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13110,489,150 - 110,493,733 (-)EnsemblGRCm39 Ensembl
GRCm3813110,352,614 - 110,357,220 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13110,352,616 - 110,357,199 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713111,142,823 - 111,147,380 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613111,473,493 - 111,478,050 (-)NCBIMGSCv36mm8
Celera13114,687,702 - 114,692,344 (-)NCBICelera
Cytogenetic Map13D2.1NCBI
cM Map1361.87NCBI
Gapt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8243,660,900 - 43,665,485 (-)NCBIGRCr8
mRatBN7.2241,927,533 - 41,932,120 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl241,927,532 - 41,932,093 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx249,043,301 - 49,045,606 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0247,102,029 - 47,104,334 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0241,955,033 - 41,957,338 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0241,869,555 - 41,874,130 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl241,869,556 - 41,871,858 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0260,928,713 - 60,933,268 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4241,759,021 - 41,761,323 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera237,743,893 - 37,746,195 (-)NCBICelera
Cytogenetic Map2q14NCBI
Gapt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554469,631,970 - 9,639,215 (-)NCBIChiLan1.0ChiLan1.0
GAPT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2455,420,337 - 55,422,156 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1553,573,969 - 53,575,788 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0555,509,317 - 55,510,711 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1557,144,459 - 57,145,229 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl557,144,608 - 57,145,081 (-)Ensemblpanpan1.1panPan2
GAPT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1245,383,244 - 45,402,649 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl245,397,899 - 45,398,369 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha242,454,805 - 42,474,050 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0245,867,354 - 45,887,661 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1242,937,807 - 42,957,684 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0243,743,459 - 43,763,829 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0244,563,509 - 44,583,897 (+)NCBIUU_Cfam_GSD_1.0
Gapt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213200,707,199 - 200,708,820 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364809,644,447 - 9,644,920 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAPT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1637,344,415 - 37,349,685 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11637,321,879 - 37,351,944 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21640,110,438 - 40,115,763 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GAPT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1454,671,271 - 54,675,882 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl454,675,265 - 54,675,738 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660493,588,326 - 3,593,769 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gapt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624759752,274 - 752,744 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GAPT
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1		 pathogenic
GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 copy number gain See cases [RCV000134066] Chr5:56947850..61725401 [GRCh38]
Chr5:56243677..61021228 [GRCh37]
Chr5:56279434..61056985 [NCBI36]
Chr5:5q11.2-12.1		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q11.2(chr5:56574178-58587671)x1 copy number loss not provided [RCV000682555] Chr5:56574178..58587671 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_001304431.2(GAPT):c.247G>A (p.Ala83Thr) single nucleotide variant not provided [RCV000963844] Chr5:58494783 [GRCh38]
Chr5:57790610 [GRCh37]
Chr5:5q11.2		 benign
NM_001304431.2(GAPT):c.240C>T (p.His80=) single nucleotide variant not provided [RCV000966947] Chr5:58494776 [GRCh38]
Chr5:57790603 [GRCh37]
Chr5:5q11.2		 benign
GRCh37/hg19 5q11.2(chr5:56283070-58079028)x1 copy number loss not provided [RCV000846139] Chr5:56283070..58079028 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_001304431.2(GAPT):c.109G>T (p.Val37Phe) single nucleotide variant not specified [RCV004306256] Chr5:58494645 [GRCh38]
Chr5:57790472 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_001304431.2(GAPT):c.202G>A (p.Gly68Ser) single nucleotide variant not specified [RCV004200336] Chr5:58494738 [GRCh38]
Chr5:57790565 [GRCh37]
Chr5:5q11.2		 likely benign
NM_001304431.2(GAPT):c.241A>G (p.Lys81Glu) single nucleotide variant not specified [RCV004134712] Chr5:58494777 [GRCh38]
Chr5:57790604 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_001304431.2(GAPT):c.449T>C (p.Ile150Thr) single nucleotide variant not specified [RCV004236606] Chr5:58494985 [GRCh38]
Chr5:57790812 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_001304431.2(GAPT):c.212A>G (p.His71Arg) single nucleotide variant not specified [RCV004276024] Chr5:58494748 [GRCh38]
Chr5:57790575 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_001304431.2(GAPT):c.173C>A (p.Thr58Asn) single nucleotide variant not specified [RCV004279900] Chr5:58494709 [GRCh38]
Chr5:57790536 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_001304431.2(GAPT):c.250G>C (p.Val84Leu) single nucleotide variant not specified [RCV004327635] Chr5:58494786 [GRCh38]
Chr5:57790613 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_001304431.2(GAPT):c.332T>C (p.Leu111Pro) single nucleotide variant not specified [RCV004352598] Chr5:58494868 [GRCh38]
Chr5:57790695 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5q11.2(chr5:57769864-58521876)x3 copy number gain not provided [RCV003484613] Chr5:57769864..58521876 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5q11.2(chr5:57430832-57796291)x3 copy number gain not provided [RCV003484612] Chr5:57430832..57796291 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2		 likely pathogenic
NM_001304431.2(GAPT):c.206T>C (p.Leu69Ser) single nucleotide variant not specified [RCV004392706] Chr5:58494742 [GRCh38]
Chr5:57790569 [GRCh37]
Chr5:5q11.2		 likely benign
NM_001304431.2(GAPT):c.29C>T (p.Ala10Val) single nucleotide variant not specified [RCV004392707] Chr5:58494565 [GRCh38]
Chr5:57790392 [GRCh37]
Chr5:5q11.2		 likely benign
NM_001304431.2(GAPT):c.401A>G (p.Tyr134Cys) single nucleotide variant not specified [RCV004392708] Chr5:58494937 [GRCh38]
Chr5:57790764 [GRCh37]
Chr5:5q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2358
Count of miRNA genes:741
Interacting mature miRNAs:866
Transcripts:ENST00000318469, ENST00000396776, ENST00000502276, ENST00000511178, ENST00000511930, ENST00000513924, ENST00000515443
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 48 390 6 758 1 5 4 17 24 14
Low 1275 1056 530 220 978 115 1471 473 1165 205 646 843 104 620 1009 1
Below cutoff 986 1489 1130 369 106 312 2455 1487 2306 144 663 524 61 578 1612 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA220230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX119237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX505129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA008727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA347824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318469   ⟹   ENSP00000323075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl558,494,240 - 58,496,358 (+)Ensembl
RefSeq Acc Id: ENST00000396776   ⟹   ENSP00000379997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl558,491,435 - 58,497,090 (+)Ensembl
RefSeq Acc Id: ENST00000502276   ⟹   ENSP00000423113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl558,491,435 - 58,497,090 (+)Ensembl
RefSeq Acc Id: ENST00000511178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl558,493,735 - 58,497,090 (+)Ensembl
RefSeq Acc Id: ENST00000511930   ⟹   ENSP00000422645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl558,491,437 - 58,497,090 (+)Ensembl
RefSeq Acc Id: ENST00000513924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl558,491,481 - 58,497,090 (+)Ensembl
RefSeq Acc Id: ENST00000515443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl558,491,492 - 58,497,090 (+)Ensembl
RefSeq Acc Id: NM_001304428   ⟹   NP_001291357
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38558,491,435 - 58,496,357 (+)NCBI
CHM1_1557,786,870 - 57,791,793 (+)NCBI
T2T-CHM13v2.0559,309,277 - 59,314,199 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304429   ⟹   NP_001291358
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38558,491,435 - 58,497,090 (+)NCBI
CHM1_1557,786,870 - 57,791,793 (+)NCBI
T2T-CHM13v2.0559,309,277 - 59,314,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304431   ⟹   NP_001291360
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38558,491,435 - 58,497,090 (+)NCBI
CHM1_1557,786,870 - 57,791,793 (+)NCBI
T2T-CHM13v2.0559,309,277 - 59,314,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152687   ⟹   NP_689900
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38558,491,435 - 58,497,090 (+)NCBI
GRCh37557,787,262 - 57,792,185 (+)NCBI
Build 36557,823,087 - 57,827,942 (+)NCBI Archive
Celera554,725,819 - 54,730,674 (+)RGD
HuRef554,744,437 - 54,749,291 (+)RGD
CHM1_1557,786,870 - 57,791,793 (+)NCBI
T2T-CHM13v2.0559,309,277 - 59,314,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416909   ⟹   XP_047272865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38558,491,435 - 58,495,466 (+)NCBI
RefSeq Acc Id: XM_047416910   ⟹   XP_047272866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38558,491,435 - 58,495,466 (+)NCBI
RefSeq Acc Id: XM_054352007   ⟹   XP_054207982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0559,309,277 - 59,313,308 (+)NCBI
RefSeq Acc Id: XM_054352008   ⟹   XP_054207983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0559,309,277 - 59,313,308 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_689900   ⟸   NM_152687
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291358   ⟸   NM_001304429
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291357   ⟸   NM_001304428
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291360   ⟸   NM_001304431
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000423113   ⟸   ENST00000502276
RefSeq Acc Id: ENSP00000422645   ⟸   ENST00000511930
RefSeq Acc Id: ENSP00000323075   ⟸   ENST00000318469
RefSeq Acc Id: ENSP00000379997   ⟸   ENST00000396776
RefSeq Acc Id: XP_047272865   ⟸   XM_047416909
- Peptide Label: isoform X1
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047272866   ⟸   XM_047416910
- Peptide Label: isoform X1
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054207982   ⟸   XM_054352007
- Peptide Label: isoform X1
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054207983   ⟸   XM_054352008
- Peptide Label: isoform X1
- UniProtKB: Q8N292 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N292-F1-model_v2 AlphaFold Q8N292 1-157 view protein structure

Promoters
RGD ID:6803214
Promoter ID:HG_KWN:50175
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:NM_152687
Position:
Human AssemblyChrPosition (strand)Source
Build 36557,822,864 - 57,823,364 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26588 AgrOrtholog
COSMIC GAPT COSMIC
Ensembl Genes ENSG00000175857 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318469.2 UniProtKB/Swiss-Prot
  ENST00000396776 ENTREZGENE
  ENST00000396776.6 UniProtKB/Swiss-Prot
  ENST00000502276 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000502276.6 UniProtKB/Swiss-Prot
  ENST00000511930 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000511930.2 UniProtKB/Swiss-Prot
  ENST00000513924 ENTREZGENE
  ENST00000513924.2 UniProtKB/Swiss-Prot
  ENST00000515443 ENTREZGENE
  ENST00000515443.2 UniProtKB/Swiss-Prot
GTEx ENSG00000175857 GTEx
HGNC ID HGNC:26588 ENTREZGENE
Human Proteome Map GAPT Human Proteome Map
InterPro Protein_GAPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:202309 UniProtKB/Swiss-Prot
NCBI Gene 202309 ENTREZGENE
OMIM 620440 OMIM
PANTHER PROTEIN GAPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR37350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GAPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164720193 PharmGKB
PRINTS PROTEINGAPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RA63_HUMAN UniProtKB/TrEMBL
  D6RBK7_HUMAN UniProtKB/TrEMBL
  GAPT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-09-20 GAPT  GRB2 binding adaptor protein, transmembrane    GRB2-binding adaptor protein, transmembrane  Symbol and/or name change 5135510 APPROVED