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Aliases for SRGAP1 Gene

Aliases for SRGAP1 Gene

  • SLIT-ROBO Rho GTPase Activating Protein 1 2 3 5
  • SLIT-ROBO Rho GTPase-Activating Protein 1 3 4
  • Rho GTPase-Activating Protein 13 3 4
  • ARHGAP13 3 4
  • 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 Familial Hypocalciuric Hypercalcemia. Among its related pathways are Development Slit-Robo signaling and p75 NTR receptor-mediated signalling. Gene Ontology (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

Additional gene information for SRGAP1 Gene

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

Genomics for SRGAP1 Gene

GeneHancer (GH) Regulatory Elements for SRGAP1 Gene

Promoters and enhancers for SRGAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J063842 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.7 +0.8 841 4.4 ZBTB33 ZNF687 L3MBTL2 ZNF24 PRDM1 ZSCAN21 ELF1 ZBTB7A CREM RAD21 SRGAP1 PABPC1P4 TBK1 ENSG00000255566 DPY19L2 GC12P063830 RPL36AP41
GH12J064085 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +243.8 243801 5.2 SP1 CEBPG ELF1 MAX ZNF600 FOSL2 SP7 PRDM10 CTBP1 ZEB2 SRGAP1 ENSG00000255629 RNU6-1009P TBK1 C12orf66 ENSG00000255886 ENSG00000255780
GH12J064403 Promoter/Enhancer 1.6 Ensembl ENCODE 11.4 +560.5 560492 3 SUZ12 CEBPB SP1 MNT SMARCE1 ZFX ZNF133 ZNF174 HCFC1 MLLT1 XPOT LEMD3 TBK1 SRGAP1 ENSG00000250280 PABPC1P4 ENSG00000255566 C12orf56 LOC100420899
GH12J064038 Enhancer 0.6 Ensembl ENCODE 19.1 +195.4 195364 1.5 ZSCAN4 WT1 TFAP4 SRGAP1 ENSG00000255629 RNU6-1009P ENSG00000255780 ENSG00000255886
GH12J064005 Enhancer 0.7 ENCODE 6 +164.2 164236 5.6 SMARCE1 MAFK TCF7L2 ZNF217 IKZF1 CREB1 NCOA3 FOSL2 CTBP1 IKZF2 ENSG00000255629 SRGAP1 GC12P064014 GC12P063998 LOC105369801
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRGAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SRGAP1 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU3F1
  • STAT3

Genomic Locations for SRGAP1 Gene

Genomic Locations for SRGAP1 Gene
chr12:63,844,293-64,162,221
(GRCh38/hg38)
Size:
317,929 bases
Orientation:
Plus strand
chr12:64,238,073-64,541,613
(GRCh37/hg19)
Size:
303,541 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

Gene Families for SRGAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SRGAP1 Gene

GenScript: Design optimal peptide antigens:
  • Rho GTPase-activating protein 13 (SRGP1_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for SRGAP1 Gene

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 21873635
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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SRGAP1 - Now 50% OFF >
  • * SRGAP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SRGAP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRGAP1 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
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 21873635
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

Drugs & Compounds for SRGAP1 Gene

No Compound Related Data Available

Transcripts for SRGAP1 Gene

mRNA/cDNA for SRGAP1 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(80) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SRGAP1 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SRGAP1 - Now 50% OFF >
  • * SRGAP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SRGAP1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for SRGAP1 Gene

  • Nervous system(4.7)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SRGAP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35 34
  • 99.6 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRGAP1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRGAP1 35 34
  • 93.12 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRGAP1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SRGAP1 35 34
  • 92.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Srgap1 17 35 34
  • 88.73 (n)
rat
(Rattus norvegicus)
Mammalia Srgap1 34
  • 88.73 (n)
chicken
(Gallus gallus)
Aves SRGAP1 35 34
  • 83.52 (n)
OneToOne
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 35 34
  • 73.56 (n)
OneToMany
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
Cin.4983 34
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)
Aminode:
Evolutionary constrained regions (ECRs) for SRGAP1: view image

Paralogs for SRGAP1 Gene

Paralogs for SRGAP1 Gene

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

  • SRGP1_HUMAN
  • G5EA48_HUMAN
  • L0R5D0_HUMAN
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 Variation AA Info Type
rs114817817 risk-factor, Follicular thyroid carcinoma, Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] 64,108,967(+) C/T coding_sequence_variant, missense_variant
rs61754221 Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] 64,127,944(+) A/C/G coding_sequence_variant, missense_variant
rs781626187 pathogenic, Follicular thyroid carcinoma, Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] 64,016,970(+) A/C/T coding_sequence_variant, missense_variant
rs797044990 pathogenic, Follicular thyroid carcinoma, Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] 64,062,938(+) G/A coding_sequence_variant, missense_variant
rs1000015885 -- 63,910,445(+) A/T genic_upstream_transcript_variant, 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)

Additional Variant Information for SRGAP1 Gene

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

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

Disorders for SRGAP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
thyroid cancer, nonmedullary, 2
  • nmtc2
familial hypocalciuric hypercalcemia
  • fhh
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.

Additional Disease Information for SRGAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility. (PMID: 23539728) He H … de la Chapelle A (The Journal of clinical endocrinology and metabolism 2013) 3 4 58
  3. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SRGAP1 Gene

Sources for SRGAP1 Gene

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