SHTN1 (shootin 1)

Gene

• Entrez ID: 57698
• Gene name: Shootin 1
• Gene symbol: SHTN1
• Synonyms (NCBI Gene): KIAA1598, shootin-1
• Chromosome: 10
• Chromosome location: 10q25.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	25468996
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	23864681
GO:0005875	Component	Microtubule associated complex	IEA
GO:0005875	Component	Microtubule associated complex	ISS
GO:0006930	Process	Substrate-dependent cell migration, cell extension	ISS
GO:0007265	Process	Ras protein signal transduction	ISS
GO:0007409	Process	Axonogenesis	ISS
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0015630	Component	Microtubule cytoskeleton	ISS
GO:0019894	Function	Kinesin binding	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	IEA
GO:0030175	Component	Filopodium	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0031252	Component	Cell leading edge	IBA
GO:0031252	Component	Cell leading edge	IEA
GO:0031252	Component	Cell leading edge	ISS
GO:0032488	Process	Cdc42 protein signal transduction	ISS
GO:0038007	Process	Netrin-activated signaling pathway	ISS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0044295	Component	Axonal growth cone	IBA
GO:0044295	Component	Axonal growth cone	IEA
GO:0044295	Component	Axonal growth cone	ISS
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045773	Process	Positive regulation of axon extension	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048812	Process	Neuron projection morphogenesis	IBA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0051015	Function	Actin filament binding	ISS
GO:0060327	Process	Cytoplasmic actin-based contraction involved in cell motility	ISS
GO:0061163	Process	Endoplasmic reticulum polarization	IEA
GO:0061163	Process	Endoplasmic reticulum polarization	ISS
GO:0061573	Process	Actin filament bundle retrograde transport	ISS
GO:2000114	Process	Regulation of establishment of cell polarity	IEA
GO:2000114	Process	Regulation of establishment of cell polarity	ISS
GO:2001222	Process	Regulation of neuron migration	IEA
GO:2001224	Process	Positive regulation of neuron migration	IBA
GO:2001224	Process	Positive regulation of neuron migration	IDA	23864681
GO:2001224	Process	Positive regulation of neuron migration	IEA

Other IDs

• MIM: 611171
• HGNC: 29319
• e!Ensembl: ENSG00000187164

Protein

• UniProt ID: A0MZ66
• Protein name: Shootin-1 (Shootin1)
• Protein function: Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC
• Sequence:

  MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISH
  MVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINID
  DEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVN
  KVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFI
  EQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLH
  KEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPP
  PLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKG
  VHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERI
  LRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEP
  GEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKD
  PTQHKEDEGEIQPENKEDSIENVRETDSSNC

• Sequence length: 631

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	22806168	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39260052	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24563076	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	23463464, 27321816, 28662356, 30411541, 33132092	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	23463464, 27369588, 28008912, 28383424, 28422192, 30411541, 32241273, 33132092, 35419918	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29696386	Stimulate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30267839		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	GWASCAT_DG	28054174		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	28383424, 33132092	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	39260052	Stimulate	★☆☆☆☆ Found in Text Mining only