Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SMAP1 Gene

Aliases for SMAP1 Gene

  • Small ArfGAP 1 2 3 5
  • Stromal Membrane-Associated GTPase-Activating Protein 1 2 3
  • Stromal Membrane-Associated Protein 1 2 3
  • SMAP-1 3

External Ids for SMAP1 Gene

Previous GeneCards Identifiers for SMAP1 Gene

  • GC06P071335
  • GC06P071373
  • GC06P071434
  • GC06P068575
  • GC06P071377

Summaries for SMAP1 Gene

Entrez Gene Summary for SMAP1 Gene

  • The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMAP1 Gene

SMAP1 (Small ArfGAP 1) is a Protein Coding gene. Diseases associated with SMAP1 include Retinitis Pigmentosa. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and clathrin binding. An important paralog of this gene is SMAP2.

UniProtKB/Swiss-Prot for SMAP1 Gene

  • GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity).

Gene Wiki entry for SMAP1 Gene

Additional gene information for SMAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAP1 Gene

Genomics for SMAP1 Gene

GeneHancer (GH) Regulatory Elements for SMAP1 Gene

Promoters and enhancers for SMAP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I070666 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 561.5 +0.5 496 3 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF213 ZNF207 ZNF143 SMAP1 SDHAF4 B3GAT2 GC06M070679
GH06I070710 Enhancer 0.6 Ensembl 0.3 +42.3 42330 0.2 SMARCE1 JUND RFX1 JUN CREB1 CEBPB FOS ATF2 LOC100419975 NDUFAB1P1 SMAP1
GH06I070838 Enhancer 0.4 FANTOM5 0.1 +171.2 171187 0.1 FOXA2 VEZF1 THRB FAM135A PIR55092 GC06M070817 SMAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMAP1 gene promoter:

Genomic Locations for SMAP1 Gene

Genomic Locations for SMAP1 Gene
194,245 bases
Plus strand

Genomic View for SMAP1 Gene

Genes around SMAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAP1 Gene

Proteins for SMAP1 Gene

  • Protein details for SMAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Stromal membrane-associated protein 1
    Protein Accession:
    Secondary Accessions:
    • Q53H70
    • Q5SYQ2
    • Q6PK24
    • Q8NDH4
    • Q96L38
    • Q96L39
    • Q9H8X4

    Protein attributes for SMAP1 Gene

    467 amino acids
    Molecular mass:
    50386 Da
    Quaternary structure:
    • Interacts with ARF6. Interacts with clathrin heavy chains via the clathrin box-like motif (By similarity).
    • Sequence=AAH08672.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMAP1 Gene

    Alternative splice isoforms for SMAP1 Gene


neXtProt entry for SMAP1 Gene

Post-translational modifications for SMAP1 Gene

  • Ubiquitination at isoforms=2, 323
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMAP1 Gene

Domains & Families for SMAP1 Gene

Gene Families for SMAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SMAP1 Gene

Suggested Antigen Peptide Sequences for SMAP1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMAP1: view

No data available for UniProtKB/Swiss-Prot for SMAP1 Gene

Function for SMAP1 Gene

Molecular function for SMAP1 Gene

UniProtKB/Swiss-Prot Function:
GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity).

Gene Ontology (GO) - Molecular Function for SMAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0030276 clathrin binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SMAP1: view
genes like me logo Genes that share phenotypes with SMAP1: view

Animal Model Products

CRISPR Products

miRNA for SMAP1 Gene

miRTarBase miRNAs that target SMAP1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMAP1 Gene

Localization for SMAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAP1 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

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 SMAP1 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 2
golgi apparatus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SMAP1: view

Pathways & Interactions for SMAP1 Gene

SuperPathways for SMAP1 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with SMAP1: view

Pathways by source for SMAP1 Gene

1 KEGG pathway for SMAP1 Gene

Gene Ontology (GO) - Biological Process for SMAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:0045648 positive regulation of erythrocyte differentiation IEA --
GO:2000369 regulation of clathrin-dependent endocytosis IEA --
genes like me logo Genes that share ontologies with SMAP1: view

No data available for SIGNOR curated interactions for SMAP1 Gene

Drugs & Compounds for SMAP1 Gene

No Compound Related Data Available

Transcripts for SMAP1 Gene

Unigene Clusters for SMAP1 Gene

Small ArfGAP 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMAP1 Gene

No ASD Table

Relevant External Links for SMAP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SMAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMAP1 Gene

This gene is overexpressed in Frontal cortex (6.7) and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMAP1 Gene

Protein tissue co-expression partners for SMAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SMAP1 Gene:


SOURCE GeneReport for Unigene cluster for SMAP1 Gene:


mRNA Expression by UniProt/SwissProt for SMAP1 Gene:

Tissue specificity: Detected in bone marrow, adrenal gland, trachea, lymph node, spinal cord, peripheral blood leukocytes, thyroid and stomach.

Evidence on tissue expression from TISSUES for SMAP1 Gene

  • Nervous system(4.9)
  • Bone marrow(4.2)
  • Intestine(4.2)
  • Blood(4.1)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with SMAP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAP1 Gene

Orthologs for SMAP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMAP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SMAP1 34 33
  • 99.77 (n)
(Canis familiaris)
Mammalia SMAP1 34 33
  • 93.5 (n)
(Rattus norvegicus)
Mammalia Smap1 33
  • 89.88 (n)
(Mus musculus)
Mammalia Smap1 16 34 33
  • 89.88 (n)
(Bos Taurus)
Mammalia SMAP1 34 33
  • 84.83 (n)
(Ornithorhynchus anatinus)
Mammalia SMAP1 34
  • 66 (a)
(Monodelphis domestica)
Mammalia SMAP1 34
  • 60 (a)
(Gallus gallus)
Aves SMAP1 33 34
  • 78.62 (n)
(Anolis carolinensis)
Reptilia SMAP1 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia smap1 33
  • 71.86 (n)
(Danio rerio)
Actinopterygii smap1 34 33
  • 64.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8243 35 34
  • 34 (a)
(Caenorhabditis elegans)
Secernentea W09D10.1 35 34
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE2 34
  • 33 (a)
(Glycine max)
eudicotyledons Gma.6513 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9042 34
  • 37 (a)
Species where no ortholog for SMAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • 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 SMAP1 Gene

Gene Tree for SMAP1 (if available)
Gene Tree for SMAP1 (if available)

Paralogs for SMAP1 Gene

Paralogs for SMAP1 Gene

(11) SIMAP similar genes for SMAP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SMAP1: view

Variants for SMAP1 Gene

Sequence variations from dbSNP and Humsavar for SMAP1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000004784 -- 70,722,014(+) T/C intron_variant
rs1000015608 -- 70,787,051(+) A/G intron_variant
rs1000021285 -- 70,754,877(+) AATAAAT/AAT intron_variant
rs1000024910 -- 70,778,394(+) T/C intron_variant
rs1000025287 -- 70,819,231(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SMAP1 Gene

Variant ID Type Subtype PubMed ID
nsv1027049 CNV gain 25217958
nsv524328 CNV gain 19592680
nsv819061 CNV loss 19587683

Variation tolerance for SMAP1 Gene

Residual Variation Intolerance Score: 20.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.48; 82.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAP1 Gene

Disorders for SMAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMAP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards
Search SMAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMAP1

genes like me logo Genes that share disorders with SMAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMAP1 Gene

Publications for SMAP1 Gene

  1. Cloning, characterization and chromosome mapping of the human SMAP1 gene. (PMID: 12119110) Marcos I … Antiñolo G (Gene 2002) 2 3 4 58
  2. Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. (PMID: 16273301) Barragan I … Antiñolo G (International journal of molecular medicine 2005) 3 22 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for SMAP1 Gene

Sources for SMAP1 Gene

Loading form....