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    SHTN1 shootin 1 [ Homo sapiens (human) ]

    Gene ID: 57698, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SHTN1provided by HGNC
    Official Full Name
    shootin 1provided by HGNC
    Primary source
    HGNC:HGNC:29319
    See related
    Ensembl:ENSG00000187164 MIM:611171; AllianceGenome:HGNC:29319
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1598; shootin-1
    Summary
    Enables identical protein binding activity. Involved in positive regulation of neuron migration. Located in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 8.9), thyroid (RPKM 3.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SHTN1 in Genome Data Viewer
    Location:
    10q25.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (116881477..117126586, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (117775790..118020853, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (118640988..118886097, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 12A Neighboring gene uncharacterized LOC105378498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118534387-118534886 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:118538206-118539405 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:118544309-118544475 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:118595447-118596082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4095 Neighboring gene microRNA 9851 Neighboring gene enolase 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:118665638-118666837 Neighboring gene Sharpr-MPRA regulatory region 1976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2857 Neighboring gene VISTA enhancer hs841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118885664-118886164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118890627-118891154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118891155-118891681 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118899364-118899950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118899951-118900536 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:118918871-118919627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118925104-118925658 Neighboring gene MIR3663 host gene Neighboring gene ventral anterior homeobox 1 Neighboring gene microRNA 3663

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Putative Coiled-Coil Domain-Dependent Autoinhibition and Alternative Splicing Determine SHTN1's Actin-Binding Activity. Ergin V, et al. J Mol Biol, 2020 Jun 26. PMID 32371045, Free PMC Article
    2. Rnaset2 inhibits melanocyte outgrowth possibly through interacting with shootin1. Wang Q, et al. J Dermatol Sci, 2015 Oct. PMID 26293343
    3. Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate. Li B, et al. Mol Genet Genomic Med, 2018 Nov. PMID 30411541, Free PMC Article
    4. Shootin1: A protein involved in the organization of an asymmetric signal for neuronal polarization. Toriyama M, et al. J Cell Biol, 2006 Oct 9. PMID 17030985, Free PMC Article
    5. Shootin1 interacts with actin retrograde flow and L1-CAM to promote axon outgrowth. Shimada T, et al. J Cell Biol, 2008 Jun 2. PMID 18519736, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Putative Coiled-Coil Domain-Dependent Autoinhibition and Alternative Splicing Determine SHTN1's Actin-Binding Activity.
      Title: Putative Coiled-Coil Domain-Dependent Autoinhibition and Alternative Splicing Determine SHTN1's Actin-Binding Activity.
    2. SHTN1 might be associated with the development of nonsyndromic cleft lip with or without cleft palate.
      Title: Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate.
    3. Rnaset2 inhibits melanocyte outgrowth through interacting with shootin1, and this effect may be associated with vitiligo pathogenesis.
      Title: Rnaset2 inhibits melanocyte outgrowth possibly through interacting with shootin1.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
    EBI GWAS Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1598, MGC40476, DKFZp686A0439

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables kinesin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Cdc42 protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in Ras protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in actin filament bundle retrograde transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cytoplasmic actin-based contraction involved in cell motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endoplasmic reticulum polarization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in netrin-activated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neuron migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of establishment of cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in substrate-dependent cell migration, cell extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axonal growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axonal growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cell leading edge IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell leading edge ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of microtubule associated complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    shootin-1
    Names
    shootin1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001127211.3 → NP_001120683.1  shootin-1 isoform a

      See identical proteins and their annotated locations for NP_001120683.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a, also known as shootin 1b).
      Source sequence(s)
      AC023283, BC022348, BC032303, BE348500, BE897523, BI086871, DN993119
      Consensus CDS
      CCDS44482.1
      UniProtKB/Swiss-Prot
      A0MZ66, A8MYU7, B3KRD3, B3KRH2, B3KTE0, B3KTJ7, B3KTJ8, B4E3U1, B7Z7Z9, Q68DG1, Q6PIM5, Q9HCH4, Q9NUV0
      Related
      ENSP00000347532.4, ENST00000355371.9
      Conserved Domains (2) summary
      pfam06156
      Location:141 → 189
      DUF972; Protein of unknown function (DUF972)
      pfam10267
      Location:268 → 350
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    2. NM_001258298.2 → NP_001245227.1  shootin-1 isoform c

      See identical proteins and their annotated locations for NP_001245227.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region compared to variant 1, which results in translation initiation from an in-frame downstream AUG, and an isoform (c) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC023283, AK304865, BC022348, BE348500, BE897523, BI086871
      Consensus CDS
      CCDS73207.1
      UniProtKB/Swiss-Prot
      A0MZ66
      Related
      ENSP00000260777.11, ENST00000260777.14
      Conserved Domains (2) summary
      pfam06156
      Location:81 → 129
      DUF972; Protein of unknown function (DUF972)
      pfam10267
      Location:208 → 290
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    3. NM_001258299.2 → NP_001245228.1  shootin-1 isoform d

      See identical proteins and their annotated locations for NP_001245228.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 3' terminal exon compared to variant 1, which results in a shorter isoform (d) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK302705, BC032303, DN993119
      Consensus CDS
      CCDS73208.1
      UniProtKB/Swiss-Prot
      A0MZ66
      Related
      ENSP00000376636.3, ENST00000392903.3
      Conserved Domains (1) summary
      cl25732
      Location:140 → 350
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001258300.1 → NP_001245229.1  shootin-1 isoform e

      See identical proteins and their annotated locations for NP_001245229.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs at the 5' and 3' ends compared to variant 1, which results in translation initiation from an in-frame downstream AUG, and an isoform (d) with a shorter N-terminus and a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK302705, DC402821
      Consensus CDS
      CCDS58097.1
      UniProtKB/Swiss-Prot
      A0MZ66
      Related
      ENSP00000376635.4, ENST00000392901.10
      Conserved Domains (1) summary
      cl25732
      Location:80 → 290
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_018330.7 → NP_060800.2  shootin-1 isoform b

      See identical proteins and their annotated locations for NP_060800.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons in the 3' coding region compared to variant 1, which results in a frame-shift and a shorter isoform (b, also known as shootin 1a) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC023283, AK095703, BC022348, BE348500, BE897523, BI086871
      Consensus CDS
      CCDS31293.1
      UniProtKB/Swiss-Prot
      A0MZ66
      Related
      ENSP00000480109.1, ENST00000615301.4
      Conserved Domains (1) summary
      cl25732
      Location:140 → 350
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      116881477..117126586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      117775790..118020853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0MZ66.4 GenPept UniProtKB/Swiss-Prot:A0MZ66

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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    Molecular Biology Databases
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