Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	57698
Gene name	Shootin 1
Gene symbol	SHTN1
Synonyms (NCBI Gene)	KIAA1598shootin-1
Chromosome	10
Chromosome location	10q25.3

52 Show/Hide all (52)

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

MIM	HGNC	e!Ensembl
611171	29319	ENSG00000187164

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	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
Family and domains
Sequence	MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISH MVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINID DEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVN KVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFI EQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLH KEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPP PLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKG VHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERI LRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEP GEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKD PTQHKEDEGEIQPENKEDSIENVRETDSSNC
Sequence length	631
Interactions	View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (7)
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	37156939, 37985822	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	20023658, 22863734, 28054174, 41075272	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935, 37985822	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	38162683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
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

SHTN1 (shootin 1)

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