• Gene id: 27164

Gene Summary

• Gene Symbol: SALL3   Gene   UCSC   Ensembl
• Aliases: ZNF796
• Gene name: spalt like transcription factor 3
• Alternate names: sal-like protein 3, C2H2 zinc finger protein SALL3, epididymis secretory sperm binding protein, hSALL3, spalt-like zinc finger protein, zinc finger protein 796,
• Gene location: 18q23 (78980274: 78998968)     Exons: 12     NC_000018.10
• Gene summary(Entrez): This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital d
• OMIM: 605079

Protein Summary

• Protein general information: Q9BXA9  
  • Name: Sal like protein 3 (Zinc finger protein 796) (Zinc finger protein SALL3) (hSALL3)
  • Length: 1300  
  • Mass: 135346
  • Tissue specificity: Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).
• Sequence:

  MSRRKQAKPQHLKSDEELLPPDGAPEHAAPGEGAEDADSGPESRSGGEETSVCEKCCAEFFKWADFLEHQRSCTK
  LPPVLIVHEDAPAPPPEDFPEPSPASSPSERAESEAAEEAGAEGAEGEARPVEKEAEPMDAEPAGDTRAPRPPPA
  APAPPTPAYGAPSTNVTLEALLSTKVAVAQFSQGARAAGGSGAGGGVAAAAVPLILEQLMALQQQQIHQLQLIEQ
  IRSQVALMQRPPPRPSLSPAAAPSAPGPAPSQLPGLAALPLSAGAPAAAIAGSGPAAPAAFEGAQPLSRPESGAS
  TPGGPAEPSAPAAPSAAPAPAAPAPAPAPQSAASSQPQSASTPPALAPGSLLGAAPGLPSPLLPQTSASGVIFPN
  PLVSIAATANALDPLSALMKHRKGKPPNVSVFEPKASAEDPFFKHKCRFCAKVFGSDSALQIHLRSHTGERPFKC
  NICGNRFSTKGNLKVHFQRHKEKYPHIQMNPYPVPEYLDNVPTCSGIPYGMSLPPEKPVTTWLDSKPVLPTVPTS
  VGLQLPPTVPGAHGYADSPSATPASRSPQRPSPASSECASLSPGLNHVESGVSATAESPQSLLGGPPLTKAEPVS
  LPCTNARAGDAPVGAQASAAPTSVDGAPTSLGSPGLPAVSEQFKAQFPFGGLLDSMQTSETSKLQQLVENIDKKM
  TDPNQCVICHRVLSCQSALKMHYRTHTGERPFKCKICGRAFTTKGNLKTHFGVHRAKPPLRVQHSCPICQKKFTN
  AVVLQQHIRMHMGGQIPNTPLPEGFQDAMDSELAYDDKNAETLSSYDDDMDENSMEDDAELKDAATDPAKPLLSY
  AGSCPPSPPSVISSIAALENQMKMIDSVMSCQQLTGLKSVENGSGESDRLSNDSSSAVGDLESRSAGSPALSESS
  SSQALSPAPSNGESFRSKSPGLGAPEEPQEIPLKTERPDSPAAAPGSGGAPGRAGIKEEAPFSLLFLSRERGKCP
  STVCGVCGKPFACKSALEIHYRSHTKERPFVCALCRRGCSTMGNLKQHLLTHRLKELPSQLFDPNFALGPSQSTP
  SLISSAAPTMIKMEVNGHGKAMALGEGPPLPAGVQVPAGPQTVMGPGLAPMLAPPPRRTPKQHNCQSCGKTFSSA
  SALQIHERTHTGEKPFGCTICGRAFTTKGNLKVHMGTHMWNNAPARRGRRLSVENPMALLGGDALKFSEMFQKDL
  AARAMNVDPSFWNQYAAAITNGLAMKNNEISVIQNGGIPQLPVSLGGSALPPLGSMASGMDKARTGSSPPIVSLD
  KASSETAASRPFTRFIEDNKEIGIN

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000441823
• Other Databases: GeneCards:  SALL3  Malacards:  SALL3

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:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0035137	hindlimb morphogenesis	IEA	biological process
GO:0035136	forelimb morphogenesis	IEA	biological process
GO:0021891	olfactory bulb interneuron development	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881