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SHTN1 shootin 1 [ Homo sapiens (human) ]

Gene ID: 57698, updated on 4-Jul-2021

Summary

Official Symbol
SHTN1provided by HGNC
Official Full Name
shootin 1provided by HGNC
Primary source
HGNC:HGNC:29319
See related
Ensembl:ENSG00000187164 MIM:611171
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
Expression
Ubiquitous expression in brain (RPKM 8.9), thyroid (RPKM 3.4) and 23 other tissues See more
Orthologs
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Genomic context

See SHTN1 in Genome Data Viewer
Location:
10q25.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (116881477..117126586, complement)
105.20201022 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 Sharpr-MPRA regulatory region 690 Neighboring gene microRNA 9851 Neighboring gene enolase 4 Neighboring gene VISTA enhancer hs841 Neighboring gene MIR3663 host gene Neighboring gene ventral anterior homeobox 1 Neighboring gene microRNA 3663

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
GeneReviews: Not available
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 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 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
 
located_in axonal growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell leading edge ISS
Inferred from Sequence or Structural Similarity
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 IEA
Inferred from Electronic Annotation
more info
 
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
 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001127211.3NP_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
    Related
    ENSP00000347532.4, ENST00000355371.9
    Conserved Domains (2) summary
    pfam06156
    Location:141189
    DUF972; Protein of unknown function (DUF972)
    pfam10267
    Location:268350
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  2. NM_001258298.2NP_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:81129
    DUF972; Protein of unknown function (DUF972)
    pfam10267
    Location:208290
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  3. NM_001258299.2NP_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:140350
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001258300.1NP_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:80290
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_018330.7NP_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:140350
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006717931.4XP_006717994.1  shootin-1 isoform X1

    See identical proteins and their annotated locations for XP_006717994.1

    Conserved Domains (2) summary
    pfam06156
    Location:141189
    DUF972; Protein of unknown function (DUF972)
    pfam10267
    Location:268350
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  2. XM_005270002.4XP_005270059.1  shootin-1 isoform X2

    Conserved Domains (2) summary
    pfam06156
    Location:141189
    DUF972; Protein of unknown function (DUF972)
    pfam10267
    Location:268350
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
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