• Gene id: 57167

Gene Summary

• Gene Symbol: SALL4   Gene   UCSC   Ensembl
• Aliases: DRRS, HSAL4, ZNF797
• Gene name: spalt like transcription factor 4
• Alternate names: sal-like protein 4, zinc finger protein 797, zinc finger protein SALL4,
• Gene location: 20q13.2 (51802520: 51782330)     Exons: 12     NC_000020.11
• Gene summary(Entrez): This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants en
• OMIM: 607343

Protein Summary

• Protein general information: Q9UJQ4  
  • Name: Sal like protein 4 (Zinc finger protein 797) (Zinc finger protein SALL4)
  • Length: 1053  
  • Mass: 112231
  • Tissue specificity: Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML). {ECO
• Sequence:

  MSRRKQAKPQHINSEEDQGEQQPQQQTPEFADAAPAAPAAGELGAPVNHPGNDEVASEDEATVKRLRREETHVCE
  KCCAEFFSISEFLEHKKNCTKNPPVLIMNDSEGPVPSEDFSGAVLSHQPTSPGSKDCHRENGGSSEDMKEKPDAE
  SVVYLKTETALPPTPQDISYLAKGKVANTNVTLQALRGTKVAVNQRSADALPAPVPGANSIPWVLEQILCLQQQQ
  LQQIQLTEQIRIQVNMWASHALHSSGAGADTLKTLGSHMSQQVSAAVALLSQKAGSQGLSLDALKQAKLPHANIP
  SATSSLSPGLAPFTLKPDGTRVLPNVMSRLPSALLPQAPGSVLFQSPFSTVALDTSKKGKGKPPNISAVDVKPKD
  EAALYKHKCKYCSKVFGTDSSLQIHLRSHTGERPFVCSVCGHRFTTKGNLKVHFHRHPQVKANPQLFAEFQDKVA
  AGNGIPYALSVPDPIDEPSLSLDSKPVLVTTSVGLPQNLSSGTNPKDLTGGSLPGDLQPGPSPESEGGPTLPGVG
  PNYNSPRAGGFQGSGTPEPGSETLKLQQLVENIDKATTDPNECLICHRVLSCQSSLKMHYRTHTGERPFQCKICG
  RAFSTKGNLKTHLGVHRTNTSIKTQHSCPICQKKFTNAVMLQQHIRMHMGGQIPNTPLPENPCDFTGSEPMTVGE
  NGSTGAICHDDVIESIDVEEVSSQEAPSSSSKVPTPLPSIHSASPTLGFAMMASLDAPGKVGPAPFNLQRQGSRE
  NGSVESDGLTNDSSSLMGDQEYQSRSPDILETTSFQALSPANSQAESIKSKSPDAGSKAESSENSRTEMEGRSSL
  PSTFIRAPPTYVKVEVPGTFVGPSTLSPGMTPLLAAQPRRQAKQHGCTRCGKNFSSASALQIHERTHTGEKPFVC
  NICGRAFTTKGNLKVHYMTHGANNNSARRGRKLAIENTMALLGTDGKRVSEIFPKEILAPSVNVDPVVWNQYTSM
  LNGGLAVKTNEISVIQSGGVPTLPVSLGATSVVNNATVSKMDGSQSGISADVEKPSATDGVPKHQFPHFLEENKI
  AVS

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 5XWR
  • PDBsum: 5XWR
  • STRING: ENSP00000217086
• Other Databases: GeneCards:  SALL4  Malacards:  SALL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0000792	heterochromatin	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003281	ventricular septum development	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001833	inner cell mass cell proliferation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Duane-radial ray syndrome	KEGG:H00634
IVIC syndrome	KEGG:H02283
Duane-radial ray syndrome	KEGG:H00634
IVIC syndrome	KEGG:H02283
Holt-Oram syndrome	PMID:12843316
Duane retraction syndrome	PMID:26791099
Duane retraction syndrome	PMID:16411190
Duane retraction syndrome	PMID:12395297
Duane retraction syndrome	PMID:23687435
Duane retraction syndrome	PMID:12393809
Ventricular septal defect	PMID:19619907
Endodermal sinus tumor	PMID:23347651
ovarian germ cell cancer	PMID:19295406
hepatoblastoma	PMID:23822878
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia, Oligozoospermia	MIK: 19478329
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
19478329	Azoospermia, Oligozoospermia	rs6068020	Caucasi an	56 cases	Male infertility	GWAS