• Gene id: 6299

Gene Summary

• Gene Symbol: SALL1   Gene   UCSC   Ensembl
• Aliases: HEL-S-89, HSAL1, Sal-1, TBS, ZNF794
• Gene name: spalt like transcription factor 1
• Alternate names: sal-like protein 1, epididymis secretory protein Li 89, zinc finger protein 794, zinc finger protein SALL1, zinc finger protein Spalt-1,
• Gene location: 16q12.1 (51151269: 51135974)     Exons: 4     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two
• OMIM: 140555

Protein Summary

• Protein general information: Q9NSC2  
  • Name: Sal like protein 1 (Spalt like transcription factor 1) (Zinc finger protein 794) (Zinc finger protein SALL1) (Zinc finger protein Spalt 1) (HSal1) (Sal 1)
  • Length: 1324  
  • Mass: 140405
  • Tissue specificity: Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
• Sequence:

  MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHVCGRCCAEFFELSDLLLHKKNCTKNQLVLIVN
  ENPASPPETFSPSPPPDNPDEQMNDTVNKTDQVDCSDLSEHNGLDREESMEVEAPVANKSGSGTSSGSHSSTAPS
  SSSSSSSSSGGGGSSSTGTSAITTSLPQLGDLTTLGNFSVINSNVIIENLQSTKVAVAQFSQEARCGGASGGKLA
  VPALMEQLLALQQQQIHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLRTSANPLSTLSSHLSQQLAAAAGLA
  QSLASQSASISGVKQLPPIQLPQSSSGNTIIPSNSGSSPNMNILAAAVTTPSSEKVASSAGASHVSNPAVSSSSS
  PAFAISSLLSPASNPLLPQQASANSVFPSPLPNIGTTAEDLNSLSALAQQRKSKPPNVTAFEAKSTSDEAFFKHK
  CRFCAKVFGSDSALQIHLRSHTGERPFKCNICGNRFSTKGNLKVHFQRHKEKYPHIQMNPYPVPEHLDNIPTSTG
  IPYGMSIPPEKPVTSWLDTKPVLPTLTTSVGLPLPPTLPSLIPFIKTEEPAPIPISHSATSPPGSVKSDSGGPES
  ATRNLGGLPEEAEGSTLPPSGGKSEESGMVTNSVPTASSSVLSSPAADCGPAGSATTFTNPLLPLMSEQFKAKFP
  FGGLLDSAQASETSKLQQLVENIDKKATDPNECIICHRVLSCQSALKMHYRTHTGERPFKCKICGRAFTTKGNLK
  THYSVHRAMPPLRVQHSCPICQKKFTNAVVLQQHIRMHMGGQIPNTPVPDSYSESMESDTGSFDEKNFDDLDNFS
  DENMEDCPEGSIPDTPKSADASQDSLSSSPLPLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTN
  DSSSVGGDMESQSAGSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGLSPTPVNGGALDLTSS
  HAEKIIKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHYRSHTKERPFICTVCNRGFSTKGNLKQHMLT
  HQMRDLPSQLFEPSSNLGPNQNSAVIPANSLSSLIKTEVNGFVHVSPQDSKDTPTSHVPSGPLSSSATSPVLLPA
  LPRRTPKQHYCNTCGKTFSSSSALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTPARRGRRLSVD
  GPMTFLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGIPPIPGSLGSGNSSPV
  SGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKEIVTS

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000251020
• Other Databases: GeneCards:  SALL1  Malacards:  SALL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0030177	positive regulation of Wnt signaling pathway	IDA	biological process
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0010369	chromocenter	IDA	cellular component
GO:0000792	heterochromatin	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0061034	olfactory bulb mitral cell layer development	IMP	biological process
GO:0021983	pituitary gland development	IEP	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0072073	kidney epithelium development	ISS	biological process
GO:0060173	limb development	IMP	biological process
GO:0048566	embryonic digestive tract development	IMP	biological process
GO:0042473	outer ear morphogenesis	IMP	biological process
GO:0031129	inductive cell-cell signaling	ISS	biological process
GO:0021553	olfactory nerve development	ISS	biological process
GO:0007507	heart development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IEP	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072092	ureteric bud invasion	ISS	biological process
GO:0030325	adrenal gland development	IEP	biological process
GO:0021889	olfactory bulb interneuron differentiation	ISS	biological process
GO:0008406	gonad development	IEP	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001657	ureteric bud development	ISS	biological process

Diseases

Associated diseases	References
Townes-Brocks syndrome	KEGG:H00573
Townes-Brocks syndrome	KEGG:H00573
Middle lobe syndrome	PMID:11102974
Middle lobe syndrome	PMID:16088922
hepatoblastoma	PMID:23822878
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881