Gene
SHANK1
SH3 and multiple ankyrin repeat domains 1
- HGNC 15474↗(opens in a new tab)
- Ensembl gene ENSG00000161681↗(opens in a new tab)
- NCBI Gene 50944↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.33
- Coordinates
- Chromosome 19: 50,659,255–50,719,802 (GRCh38)
- Exons
- 24 exons across 60.5 kb
- Protein
- 2,161 amino acids
- Also known as
- SSTRIP, SPANK-1, synamon
- MANE Select transcript
- ENST00000293441.6NM_016148.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Autism Spectrum Disorder
A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Early intervention services, behavioral therapy, speech and occupational therapy, psychopharmacology for associated features
How SHANK1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 9.6 kb of the gene's 60.5 kb; 6,486 of those bases code for the protein.
Genes linked to the same conditions
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SHANK1 gene: SH3 and multiple ankyrin repeat domains 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/shank1
Dante Labs. SHANK1 gene: SH3 and multiple ankyrin repeat domains 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/shank1
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