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] See more...

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 Cakut. Among its related pathways are Signaling by Robo receptor and Signaling by Slit. 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 Summary 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 , Rfam classification and piRNA Summary for SRGAP1 Gene

Genomics for SRGAP1 Gene

GeneHancer (GH) Regulatory Elements for SRGAP1 Gene

Promoters and enhancers for SRGAP1 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRGAP1

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
chr12:63,844,512-64,162,217
(GRCh38/hg38)
Size:
317,706 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=Truncated N-terminus.; 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

  • Glycosylation at Asn920
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SRGP1_HUMAN (2077)

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

Protein Domains for SRGAP1 Gene

Blocks:
  • RhoGAP domain
  • SH3 domain signature
  • Spectrin repeat
  • Cdc15/Fes/CIP4
InterPro:
ProtoNet:

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,IEA 15161933
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

Human Phenotype Ontology for SRGAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 2
plasma membrane 1
extracellular 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

PathCards logo

SuperPathways 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
  • Development Slit-Robo signaling
2 Qiagen pathways for SRGAP1 Gene
  • Guidance Cues and Growth Cone Motility
  • Signaling by Slit

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 :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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, MaxQB, and MOPED for SRGAP1 Gene



Protein tissue co-expression partners for SRGAP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.6 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRGAP1 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRGAP1 31 30
  • 93.12 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRGAP1 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SRGAP1 31 30
  • 92.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Srgap1 17 31 30
  • 88.73 (n)
rat
(Rattus norvegicus)
Mammalia Srgap1 30
  • 88.73 (n)
chicken
(Gallus gallus)
Aves SRGAP1 31 30
  • 83.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRGAP1 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srgap1 30
  • 79.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9111 30
zebrafish
(Danio rerio)
Actinopterygii srgap1 31 30
  • 73.56 (n)
OneToMany
srgap2b 31
  • 70 (a)
OneToMany
zgc63672 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004772 30
  • 50.58 (n)
worm
(Caenorhabditis elegans)
Secernentea F12F6.5 32
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
Cin.4983 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4983 30
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRGAP1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
684621 Pathogenic: Congenital anomalies of the kidney and urinary tract 64,062,921(+) G/A MISSENSE_VARIANT
684622 Pathogenic: Congenital anomalies of the kidney and urinary tract 64,111,835(+) C/A MISSENSE_VARIANT
710135 Benign: not provided 64,065,207(+) C/T SYNONYMOUS_VARIANT
710136 Likely Benign: not provided 64,097,267(+) A/G MISSENSE_VARIANT
720720 Benign: not provided 64,142,498(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SRGAP1 Gene

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

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

(5) MalaCards diseases for SRGAP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, and DISEASES

Disorder Aliases PubMed IDs
thyroid cancer, nonmedullary, 2
  • nmtc2
cakut
  • renal hypodysplasia, nonsyndromic, 1
chromosome 3pter-p25 deletion syndrome
  • 3p- syndrome
familial hypocalciuric hypercalcemia
  • fhh
carney complex variant
  • carney complex, type 1
- 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 54
  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 54
  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 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  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 54

Products for SRGAP1 Gene

Sources for SRGAP1 Gene