• Gene id: 6294

Gene Summary

• Gene Symbol: SAFB   Gene   UCSC   Ensembl
• Aliases: HAP, HET, SAB-B1, SAF-B, SAF-B1, SAFB1
• Gene name: scaffold attachment factor B
• Alternate names: scaffold attachment factor B1, HSP27 ERE-TATA-binding protein, HSP27 estrogen response element-TATA box-binding protein, Hsp27 ERE-TATA binding protein, glutathione S-transferase fusion protein, heat-shock protein (HSP27) estrogen response element and TATA box,
• Gene location: 19p13.3 (5623080: 5668477)     Exons: 21     NC_000019.10
• Gene summary(Entrez): This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is confli
• OMIM: 200350

Protein Summary

• Protein general information: Q15424  
  • Name: Scaffold attachment factor B1 (SAF B) (SAF B1) (HSP27 estrogen response element TATA box binding protein) (HSP27 ERE TATA binding protein)
  • Length: 915  
  • Mass: 102642
  • Tissue specificity: Ubiquitous. Expressed at high levels in the CNS and at low levels in the liver. Expressed in a wide number of breast cancer cell lines.
• Sequence:

  MAETLSGLGDSGAAGAAALSSASSETGTRRLSDLRVIDLRAELRKRNVDSSGNKSVLMERLKKAIEDEGGNPDEI
  EITSEGNKKTSKRSSKGRKPEEEGVEDNGLEENSGDGQEDVETSLENLQDIDIMDISVLDEAEIDNGSVADCVED
  DDADNLQESLSDSRELVEGEMKELPEQLQEHAIEDKETINNLDTSSSDFTILQEIEEPSLEPENEKILDILGETC
  KSEPVKEESSELEQPFAQDTSSVGPDRKLAEEEDLFDSAHPEEGDLDLASESTAHAQSSKADSLLAVVKREPAEQ
  PGDGERTDCEPVGLEPAVEQSSAASELAEASSEELAEAPTEAPSPEARDSKEDGRKFDFDACNEVPPAPKESSTS
  EGADQKMSSPEDDSDTKRLSKEEKGRSSCGRNFWVSGLSSTTRATDLKNLFSKYGKVVGAKVVTNARSPGARCYG
  FVTMSTAEEATKCINHLHKTELHGKMISVEKAKNEPVGKKTSDKRDSDGKKEKSSNSDRSTNLKRDDKCDRKDDA
  KKGDDGSGEKSKDQDDQKPGPSERSRATKSGSRGTERTVVMDKSKGVPVISVKTSGSKERASKSQDRKSASREKR
  SVVSFDKVKEPRKSRDSESHSRVRERSEREQRMQAQWEREERERLEIARERLAFQRQRLERERMERERLERERMH
  VEHERRREQERIHREREELRRQQELRYEQERRPAVRRPYDLDRRDDAYWPEAKRAALDERYHSDFNRQDRFHDFD
  HRDRGRYPDHSVDRREGSRSMMGEREGQHYPERHGGPERHGRDSRDGWGGYGSDKRMSEGRGLPPPPRRDWGDHG
  RREDDRSWQGTADGGMMDRDHKRWQGGERSMSGHSGPGHMMNRGGMSGRGSFAPGGASRGHPIPHGGMQGGFGGQ
  SRGSRPSDARFTRRY

• Structural information:
  • Protein Domains: (31..6-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186-)
    (406..48-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR000504  IPR034781  IPR003034   IPR036361  
  • Prosite: PS50102 PS50800
  • STRING: ENSP00000467423
• Other Databases: GeneCards:  SAFB  Malacards:  SAFB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0050684	regulation of mRNA processing	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0030520	intracellular estrogen receptor signaling pathway	IBA	biological process
GO:0003682	chromatin binding	ISS	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050684	regulation of mRNA processing	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003690	double-stranded DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006325	chromatin organization	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042445	hormone metabolic process	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq