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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
  • 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. GO annotations related to this gene include GTPase activator activity and clathrin binding. An important paralog of this gene is ADAP1.

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

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

Genomics for SMAP1 Gene

Regulatory Elements for SMAP1 Gene

Enhancers for SMAP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMAP1 on UCSC Golden Path with GeneCards custom track

Promoters for SMAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMAP1 Gene

70,667,771 bp from pter
70,862,015 bp from pter
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

Proteomics data for SMAP1 Gene at MOPED

Post-translational modifications for SMAP1 Gene

  • Ubiquitination at Lys 23
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMAP1 Gene

Domains & Families for SMAP1 Gene

Gene Families for SMAP1 Gene

Protein Domains for SMAP1 Gene

Suggested Antigen Peptide Sequences for SMAP1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Arf-GAP domain.
  • Contains 1 Arf-GAP domain.
genes like me logo Genes that share domains with SMAP1: view

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:0005515 protein 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

miRNA for SMAP1 Gene

miRTarBase miRNAs that target SMAP1

No data available for Enzyme Numbers (IUBMB) , 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

Jensen Localization Image for SMAP1 Gene COMPARTMENTS Subcellular localization image for SMAP1 gene
Compartment Confidence
cytosol 4
plasma membrane 4
golgi apparatus 2
nucleus 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for SMAP1 Gene

Pathways & Interactions for SMAP1 Gene

SuperPathways for SMAP1 Gene

Superpath 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 --
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:

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 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, MOPED, and MaxQB for SMAP1 Gene

SOURCE GeneReport for Unigene cluster for SMAP1 Gene Hs.485717

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.
genes like me logo Genes that share expression patterns with SMAP1: view

Protein tissue co-expression partners for SMAP1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
(Bos Taurus)
Mammalia SMAP1 35
  • 84.83 (n)
  • 85.23 (a)
SMAP1 36
  • 86 (a)
(Canis familiaris)
Mammalia SMAP1 35
  • 93.5 (n)
  • 94.86 (a)
SMAP1 36
  • 94 (a)
(Mus musculus)
Mammalia Smap1 35
  • 89.88 (n)
  • 91.55 (a)
Smap1 16
Smap1 36
  • 93 (a)
(Pan troglodytes)
Mammalia SMAP1 35
  • 99.77 (n)
  • 99.3 (a)
SMAP1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Smap1 35
  • 89.88 (n)
  • 91.78 (a)
(Monodelphis domestica)
Mammalia SMAP1 36
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia SMAP1 36
  • 66 (a)
(Gallus gallus)
Aves SMAP1 35
  • 78.62 (n)
  • 79.7 (a)
SMAP1 36
  • 76 (a)
(Anolis carolinensis)
Reptilia SMAP1 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia smap1 35
  • 71.86 (n)
  • 70.35 (a)
(Danio rerio)
Actinopterygii smap1 35
  • 64.35 (n)
  • 61.57 (a)
smap1 36
  • 59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8243 37
  • 34 (a)
CG8243 36
  • 30 (a)
(Caenorhabditis elegans)
Secernentea W09D10.1 37
  • 31 (a)
W09D10.1 36
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGE2 36
  • 33 (a)
(Glycine max)
eudicotyledons Gma.6513 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9042 36
  • 37 (a)
Species with no ortholog for SMAP1:
  • 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 Sequence Context AA Info Type
rs2273566 - 70,836,999(+) AGCTG(C/T)GGAGC reference, missense
rs1024211 -- 70,849,223(-) CAAGG(C/T)TGACA intron-variant
rs1084381 -- 70,688,758(+) tggtc(A/T)tgcat intron-variant
rs1084382 -- 70,689,448(+) ccaat(A/G)ttgta intron-variant
rs1084383 -- 70,690,026(+) tccaa(A/T)ttgaa intron-variant

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

Variant ID Type Subtype PubMed ID
nsv524328 CNV Gain 19592680
nsv886147 CNV Gain 21882294
nsv482946 CNV Gain 15286789
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search SMAP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMAP1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. … Antinolo G. (Gene 2002) 2 3 4 67
  2. Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. (PMID: 16273301) Barragan I. … AntiA+olo G. (Int. J. Mol. Med. 2005) 3 23
  3. Involvement of stromal membrane-associated protein (SMAP-1) in erythropoietic microenvironment. (PMID: 9644265) Sato Y. … Obinata M. (J. Biochem. 1998) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3

Products for SMAP1 Gene

Sources for SMAP1 Gene