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Aliases for SRGAP1 Gene

Aliases for SRGAP1 Gene

  • SLIT-ROBO Rho GTPase Activating Protein 1 2 3 5
  • Rho GTPase-Activating Protein 13 3 4
  • ARHGAP13 3 4
  • SLIT-ROBO Rho GTPase-Activating Protein 1 3
  • KIAA1304 4
  • SrGAP1 4
  • NMTC2 3

External Ids for SRGAP1 Gene

Previous GeneCards Identifiers for SRGAP1 Gene

  • GC12P064016
  • GC12P064330
  • GC12P062524
  • GC12P061290
  • GC12P064238

Summaries for SRGAP1 Gene

Entrez Gene Summary for SRGAP1 Gene

  • The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

GeneCards Summary for SRGAP1 Gene

SRGAP1 (SLIT-ROBO Rho GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with SRGAP1 include Thyroid Cancer, Nonmedullary, 2 and Thyroid Cancer. Among its related pathways are Guidance Cues and Growth Cone Motility and Regulation of RhoA activity. GO annotations related to this gene include GTPase activator activity and Rac GTPase binding. An important paralog of this gene is SRGAP3.

UniProtKB/Swiss-Prot for SRGAP1 Gene

  • GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42.

Gene Wiki entry for SRGAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRGAP1 Gene

Genomics for SRGAP1 Gene

Regulatory Elements for SRGAP1 Gene

Enhancers for SRGAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F064038 1.2 Ensembl ENCODE 19 +195.4 195365 1.5 ESRRA NR2F1 RARA ZNF121 NR2F6 FOS WT1 TRIM28 RXRB SRGAP1 ENSG00000255629 RNU6-1009P ENSG00000255780 LOC105369799
GH12F064085 1.6 FANTOM5 Ensembl ENCODE 16.5 +243.9 243850 5.3 TBP RAD21 RFX5 ZNF366 RCOR1 FOS EGR2 SMARCC1 USF2 CEBPB SRGAP1 ENSG00000255629 RNU6-1009P TBK1 C12orf66 LOC105369799 ENSG00000255780
GH12F064065 0.8 ENCODE 15.2 +222.0 221971 1.5 IRF2 MTA2 IKZF1 NBN ELF1 ZNF600 IRF1 SRGAP1 LOC105369799 ENSG00000255780
GH12F064104 0.6 ENCODE 14.4 +260.7 260696 1.7 PBX2 ZBTB33 SRGAP1 ENSG00000255629 RNU6-1009P LOC105369799 GC12M064120
GH12F064150 0.5 FANTOM5 6.4 +306.8 306817 0.4 ZNF362 OVOL3 FEZF1 ZEB2 BCL11B ZNF843 ZNF664 ZNF121 OSR2 BCL11A SRGAP1 ENSG00000255629 GC12P064205
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SRGAP1 on UCSC Golden Path with GeneCards custom track

Promoters for SRGAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000431908 608 3400 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 ZNF207 DEK

Genomic Location for SRGAP1 Gene

Chromosome:
12
Start:
63,844,293 bp from pter
End:
64,162,221 bp from pter
Size:
317,929 bases
Orientation:
Plus strand

Genomic View for SRGAP1 Gene

Genes around SRGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP1 Gene

Proteins for SRGAP1 Gene

  • Protein details for SRGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6B7-SRGP1_HUMAN
    Recommended name:
    SLIT-ROBO Rho GTPase-activating protein 1
    Protein Accession:
    Q7Z6B7
    Secondary Accessions:
    • Q9H8A3
    • Q9P2P2

    Protein attributes for SRGAP1 Gene

    Size:
    1085 amino acids
    Molecular mass:
    124264 Da
    Quaternary structure:
    • Homodimer (Probable). Forms a heterooligomer with SRGAP2 and SRGAP3 through its F-BAR domain. Interacts with ROBO1, CDC42 and RHOA. Interacts with FASLG.
    SequenceCaution:
    • Sequence=BAA92542.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92542.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for SRGAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRGAP1 Gene

Post-translational modifications for SRGAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRGAP1 Gene

No data available for DME Specific Peptides for SRGAP1 Gene

Domains & Families for SRGAP1 Gene

Suggested Antigen Peptide Sequences for SRGAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z6B7

UniProtKB/Swiss-Prot:

SRGP1_HUMAN :
  • The F-BAR domain mediates oligomerization, binds membranes, and constrains plasma membrane protrusions.
Domain:
  • The F-BAR domain mediates oligomerization, binds membranes, and constrains plasma membrane protrusions.
  • Contains 1 F-BAR domain.
  • Contains 1 Rho-GAP domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with SRGAP1: view

Function for SRGAP1 Gene

Molecular function for SRGAP1 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42.

Gene Ontology (GO) - Molecular Function for SRGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 17500595
GO:0048365 Rac GTPase binding IBA --
genes like me logo Genes that share ontologies with SRGAP1: view
genes like me logo Genes that share phenotypes with SRGAP1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRGAP1 Gene

Localization for SRGAP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRGAP1 Gene COMPARTMENTS Subcellular localization image for SRGAP1 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SRGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SRGAP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SRGAP1 Gene

Pathways & Interactions for SRGAP1 Gene

genes like me logo Genes that share pathways with SRGAP1: view

Pathways by source for SRGAP1 Gene

1 BioSystems pathway for SRGAP1 Gene
1 KEGG pathway for SRGAP1 Gene
1 GeneGo (Thomson Reuters) pathway for SRGAP1 Gene
2 Qiagen pathways for SRGAP1 Gene

Gene Ontology (GO) - Biological Process for SRGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0030336 negative regulation of cell migration IBA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with SRGAP1: view

No data available for SIGNOR curated interactions for SRGAP1 Gene

Transcripts for SRGAP1 Gene

Unigene Clusters for SRGAP1 Gene

SLIT-ROBO Rho GTPase activating protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRGAP1 Gene

No ASD Table

Relevant External Links for SRGAP1 Gene

GeneLoc Exon Structure for
SRGAP1
ECgene alternative splicing isoforms for
SRGAP1

Expression for SRGAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRGAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SRGAP1 Gene

This gene is overexpressed in Fetal Brain (36.5), Brain (12.9), and Heart (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SRGAP1 Gene



Protein tissue co-expression partners for SRGAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SRGAP1 Gene:

SRGAP1

SOURCE GeneReport for Unigene cluster for SRGAP1 Gene:

Hs.210751

mRNA Expression by UniProt/SwissProt for SRGAP1 Gene:

Q7Z6B7-SRGP1_HUMAN
Tissue specificity: Expressed in brain, lung, kidney, and testis.
genes like me logo Genes that share expression patterns with SRGAP1: view

Primer Products

No data available for mRNA differential expression in normal tissues for SRGAP1 Gene

Orthologs for SRGAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SRGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRGAP1 34 35
  • 99.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SRGAP1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRGAP1 34 35
  • 93.12 (n)
oppossum
(Monodelphis domestica)
Mammalia SRGAP1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SRGAP1 34 35
  • 92.63 (n)
mouse
(Mus musculus)
Mammalia Srgap1 34 16 35
  • 88.73 (n)
rat
(Rattus norvegicus)
Mammalia Srgap1 34
  • 88.73 (n)
chicken
(Gallus gallus)
Aves SRGAP1 34 35
  • 83.52 (n)
lizard
(Anolis carolinensis)
Reptilia SRGAP1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srgap1 34
  • 79.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9111 34
zebrafish
(Danio rerio)
Actinopterygii srgap1 34 35
  • 73.56 (n)
srgap2b 35
  • 70 (a)
OneToMany
zgc63672 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004772 34
  • 50.58 (n)
worm
(Caenorhabditis elegans)
Secernentea F12F6.5 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4983 34
Species where no ortholog for SRGAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SRGAP1 Gene

ENSEMBL:
Gene Tree for SRGAP1 (if available)
TreeFam:
Gene Tree for SRGAP1 (if available)

Paralogs for SRGAP1 Gene

(9) SIMAP similar genes for SRGAP1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SRGAP1: view

Variants for SRGAP1 Gene

Sequence variations from dbSNP and Humsavar for SRGAP1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs114817817 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470], other 64,108,967(+) ACATC(C/T)GCAAA intron-variant, reference, missense
rs61754221 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] 64,127,944(+) TCCAC(A/G)TGCCC intron-variant, reference, missense
rs781626187 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470], Pathogenic 64,016,970(+) TTCCA(A/C)CTTCA intron-variant, upstream-variant-2KB, reference, missense
rs797044990 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470], Pathogenic 64,062,938(+) ACCAT(A/G)CAAGT reference, missense
rs10128867 -- 63,946,987(+) TATTG(A/T)TAACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SRGAP1 Gene

Variant ID Type Subtype PubMed ID
esv25312 CNV loss 19812545
esv2577852 CNV deletion 19546169
esv2656891 CNV deletion 23128226
esv2673319 CNV deletion 23128226
esv2674940 CNV deletion 23128226
esv2745984 CNV deletion 23290073
esv2751110 CNV gain 17911159
esv2759905 CNV gain 17122850
esv33314 CNV loss 17666407
esv3580292 CNV loss 25503493
esv3629764 CNV loss 21293372
esv3629765 CNV gain 21293372
esv3629766 CNV loss 21293372
esv9153 CNV gain 19470904
nsv1046836 CNV gain 25217958
nsv1119963 CNV deletion 24896259
nsv1124746 CNV deletion 24896259
nsv437756 CNV loss 16327808
nsv438217 CNV loss 16468122
nsv442274 CNV loss 18776908
nsv498794 CNV loss 21111241
nsv507648 OTHER sequence alteration 20534489
nsv515618 CNV loss 19592680
nsv519341 CNV loss 19592680
nsv559201 CNV loss 21841781
nsv747 CNV deletion 18451855
nsv832441 CNV loss 17160897
nsv832442 CNV gain 17160897
nsv975506 CNV duplication 23825009

Variation tolerance for SRGAP1 Gene

Residual Variation Intolerance Score: 9.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRGAP1 Gene

Human Gene Mutation Database (HGMD)
SRGAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRGAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRGAP1 Gene

Disorders for SRGAP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SRGAP1 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thyroid cancer, nonmedullary, 2
  • thyroid carcinoma, follicular, somatic
thyroid cancer
  • malignant neoplasm of thyroid gland
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SRGP1_HUMAN
  • Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269 PubMed:23539728}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for SRGAP1

Genetic Association Database (GAD)
SRGAP1
Human Genome Epidemiology (HuGE) Navigator
SRGAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRGAP1
genes like me logo Genes that share disorders with SRGAP1: view

No data available for Genatlas for SRGAP1 Gene

Publications for SRGAP1 Gene

  1. Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. (PMID: 11672528) Wong K. … Rao Y. (Cell 2001) 2 3 4 64
  2. SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility. (PMID: 23539728) He H. … de la Chapelle A. (J. Clin. Endocrinol. Metab. 2013) 3 4 64
  3. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SRGAP1 Gene

Sources for SRGAP1 Gene

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