Gene Gene information from NCBI Gene database.
Entrez ID 60682
Gene name Small ArfGAP 1
Gene symbol SMAP1
Synonyms (NCBI Gene)
SMAP-1
Chromosome 6
Chromosome location 6q13
Summary 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 ce
miRNA miRNA information provided by mirtarbase database.
270
miRTarBase ID miRNA Experiments Reference
MIRT050219 hsa-miR-25-3p CLASH 23622248
MIRT1371311 hsa-miR-101 CLIP-seq
MIRT1371312 hsa-miR-127-5p CLIP-seq
MIRT1371313 hsa-miR-130a CLIP-seq
MIRT1371314 hsa-miR-130b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611372 19651 ENSG00000112305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYB5
Protein name Stromal membrane-associated protein 1
Protein function GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity).
PDB 2CRR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01412 ArfGap 18 132 Putative GTPase activating protein for Arf Domain
Tissue specificity TISSUE SPECIFICITY: Detected in bone marrow, adrenal gland, trachea, lymph node, spinal cord, peripheral blood leukocytes, thyroid and stomach. {ECO:0000269|PubMed:12119110}.
Sequence
MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWASWNIGVFICIRCAGIH
RNLGVHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANLPENFRRPQTDQAVEFFIR
DKYEKKKYYDKN
AIAITNISSSDAPLQPLVSSPSLQAAVDKNKLEKEKEKKKEEKKREKE
PEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDLLGLDGPAVAPVTNGNTTVPPLN
DDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLSTVTSGDLDLFTEQTTKSEEVAKKQL
SKDSILSLYGTGTIQQQSTPGVFMGPTNIPFTSQAPAAFQGFPSMGVPVPAAPGLIGNVM
GQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVVGPQGGMVGQMGAPQSKFGLPQAQQPQWS
LSQMNQQMAGMSISSATPTAGFGQPSSTTAGWSGSSSGQTLSTQLWK
Sequence length 467
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR HYPOTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Carcinoma Colorectal Cancer BEFREE 23752192
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36494580 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 23752192
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa 25 Retinitis Pigmentosa BEFREE 16273301
★☆☆☆☆
Found in Text Mining only
Venous Thromboembolism Venous thromboembolism Pubtator 28011674 Associate
★☆☆☆☆
Found in Text Mining only