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sal-like protein 4; zinc finger protein SALL4 (SALL4)
Function:
- probable transcription factor
- interacts with NANOG (putative)
Structure:
- belongs to the sal C2H2-type Zn+2-finger protein family
- contains 7 C2H2-type Zn+2 fingers
Compartment: nucleus (probable)
Expression: expressed in testis
Pathology:
- defects in SALL4 are the cause of
a) Duane-radial ray syndrome
b) IVIC syndrome
General
C2H2 type zinc finger protein
nuclear protein
Properties
SIZE: entity length = 1053 aa
MW = 112 kD
COMPARTMENT: cell nucleus
MOTIF: Zn finger C2H2-type
SITE: 382-404
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 410-432
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 566-588
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 594-616
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 626-648
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 870-892
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 898-920
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM correlations
MORBIDMAP 607343
UniProt Q9UJQ4
Pfam PF00096
Entrez Gene 57167
Kegg hsa:57167
References
- UniProt :accession Q9UJQ4
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SALL4