Q9UJQ4 (SALL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sal-like protein 4

Alternative name(s):
Zinc finger protein 797
Zinc finger protein SALL4

Gene names

Name:	SALL4
Synonyms:	ZNF797

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1053 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable transcription factor.
Subunit structure	Interacts with NANOG By similarity.
Subcellular location	Nucleus Probable.
Tissue specificity	Expressed in testis.
Involvement in disease	Defects in SALL4 are the cause of Duane-radial ray syndrome (DRRS) [MIM:607323]; also known as Okihiro syndrome. DRRS is a disorder characterized by the association of forearm malformations with Duane retraction syndrome. Ref.4 Ref.5 Ref.6 Defects in SALL4 are the cause of oculootoradial syndrome (OORS) [MIM:147750]. Oculootoradial syndrome is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype. Ref.7
Sequence similarities	Belongs to the sal C2H2-type zinc-finger protein family. Contains 7 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1053	1053	Sal-like protein 4		PRO_0000047026
Regions
	Zinc finger	382 – 404	23	C2H2-type 1
	Zinc finger	410 – 432	23	C2H2-type 2
	Zinc finger	566 – 588	23	C2H2-type 3
	Zinc finger	594 – 616	23	C2H2-type 4
	Zinc finger	626 – 648	23	C2H2-type 5
	Zinc finger	870 – 892	23	C2H2-type 6
	Zinc finger	898 – 920	23	C2H2-type 7
Natural variations
	Natural variant	507	1	L → R. Ref.5 Corresponds to variant rs6126344 [ dbSNP | Ensembl ].		VAR_016042
	Natural variant	798	1	I → L. Ref.5 Corresponds to variant rs6091375 [ dbSNP | Ensembl ].		VAR_016043
	Natural variant	888	1	H → R in DRRS. Ref.6		VAR_033054

Sequences

	Sequence		Length	Mass (Da)
	Q9UJQ4 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 61D0D1F21CB2B337	FASTA	1,053	112,231
	10 20 30 40 50 60 MSRRKQAKPQ HINSEEDQGE QQPQQQTPEF ADAAPAAPAA GELGAPVNHP GNDEVASEDE 70 80 90 100 110 120 ATVKRLRREE THVCEKCCAE FFSISEFLEH KKNCTKNPPV LIMNDSEGPV PSEDFSGAVL 130 140 150 160 170 180 SHQPTSPGSK DCHRENGGSS EDMKEKPDAE SVVYLKTETA LPPTPQDISY LAKGKVANTN 190 200 210 220 230 240 VTLQALRGTK VAVNQRSADA LPAPVPGANS IPWVLEQILC LQQQQLQQIQ LTEQIRIQVN 250 260 270 280 290 300 MWASHALHSS GAGADTLKTL GSHMSQQVSA AVALLSQKAG SQGLSLDALK QAKLPHANIP 310 320 330 340 350 360 SATSSLSPGL APFTLKPDGT RVLPNVMSRL PSALLPQAPG SVLFQSPFST VALDTSKKGK 370 380 390 400 410 420 GKPPNISAVD VKPKDEAALY KHKCKYCSKV FGTDSSLQIH LRSHTGERPF VCSVCGHRFT 430 440 450 460 470 480 TKGNLKVHFH RHPQVKANPQ LFAEFQDKVA AGNGIPYALS VPDPIDEPSL SLDSKPVLVT 490 500 510 520 530 540 TSVGLPQNLS SGTNPKDLTG GSLPGDLQPG PSPESEGGPT LPGVGPNYNS PRAGGFQGSG 550 560 570 580 590 600 TPEPGSETLK LQQLVENIDK ATTDPNECLI CHRVLSCQSS LKMHYRTHTG ERPFQCKICG 610 620 630 640 650 660 RAFSTKGNLK THLGVHRTNT SIKTQHSCPI CQKKFTNAVM LQQHIRMHMG GQIPNTPLPE 670 680 690 700 710 720 NPCDFTGSEP MTVGENGSTG AICHDDVIES IDVEEVSSQE APSSSSKVPT PLPSIHSASP 730 740 750 760 770 780 TLGFAMMASL DAPGKVGPAP FNLQRQGSRE NGSVESDGLT NDSSSLMGDQ EYQSRSPDIL 790 800 810 820 830 840 ETTSFQALSP ANSQAESIKS KSPDAGSKAE SSENSRTEME GRSSLPSTFI RAPPTYVKVE 850 860 870 880 890 900 VPGTFVGPST LSPGMTPLLA AQPRRQAKQH GCTRCGKNFS SASALQIHER THTGEKPFVC 910 920 930 940 950 960 NICGRAFTTK GNLKVHYMTH GANNNSARRG RKLAIENTMA LLGTDGKRVS EIFPKEILAP 970 980 990 1000 1010 1020 SVNVDPVVWN QYTSMLNGGL AVKTNEISVI QSGGVPTLPV SLGATSVVNN ATVSKMDGSQ 1030 1040 1050 SGISADVEKP SATDGVPKHQ FPHFLEENKI AVS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The cloning and functional characterization of SALL4, a novel member of the SAL gene family: implications for regulation and cellular function." Di C., Chai L., Lai R., Juco J., Ma Y. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Okihiro syndrome is caused by SALL4 mutations." Kohlhase J., Heinrich M., Schubert L., Liebers M., Kispert A., Laccone F., Turnpenny P., Winter R.M., Reardon W. Hum. Mol. Genet. 11:2979-2987(2002) [PubMed: 12393809] [Abstract] Cited for: INVOLVEMENT IN DRRS.
[5]	"Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family." Al-Baradie R., Yamada K., St Hilaire C., Chan W.-M., Andrews C., McIntosh N., Nakano M., Martonyi E.J., Raymond W.R., Okumura S., Okihiro M.M., Engle E.C. Am. J. Hum. Genet. 71:1195-1199(2002) [PubMed: 12395297] [Abstract] Cited for: VARIANTS ARG-507 AND LEU-798, INVOLVEMENT IN DRRS.
[6]	"A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome." Miertus J., Borozdin W., Frecer V., Tonini G., Bertok S., Amoroso A., Miertus S., Kohlhase J. Hum. Genet. 119:154-161(2006) [PubMed: 16402211] [Abstract] Cited for: VARIANT DRRS ARG-888.
[7]	"IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus." Paradisi I., Arias S. Am. J. Med. Genet. A 143:326-332(2007) [PubMed: 17256792] [Abstract] Cited for: INVOLVEMENT IN OORS.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY172738 mRNA. Translation: AAO44950.1. AL034420 Genomic DNA. Translation: CAB61485.1. BC111714 mRNA. Translation: AAI11715.1.
IPI	IPI00007032.
RefSeq	NP_065169.1. NM_020436.3.
UniGene	Hs.517113.
3D structure databases
ProteinModelPortal	Q9UJQ4.
SMR	Q9UJQ4. Positions 373-469, 565-648, 788-923.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9UJQ4.
PTM databases
PhosphoSite	Q9UJQ4.
Polymorphism databases
DMDM	24212387.
Proteomic databases
PRIDE	Q9UJQ4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000217086; ENSP00000217086; ENSG00000101115.
GeneID	57167.
KEGG	hsa:57167.
UCSC	uc002xwh.2. human.
Organism-specific databases
CTD	57167.
GeneCards	GC20M050400.
H-InvDB	HIX0015921.
HGNC	HGNC:15924. SALL4.
HPA	HPA015291. HPA015791.
MIM	147750. phenotype. 607323. phenotype. 607343. gene.
neXtProt	NX_Q9UJQ4.
Orphanet	959. Acro-renal-ocular syndrome. 2307. IVIC syndrome. 93293. Okihiro syndrome. 261638. Okihiro syndrome due to 20q13 microdeletion.
PharmGKB	PA34936.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19426.
GeneTree	ENSGT00550000074555.
HOGENOM	HBG716076.
HOVERGEN	HBG058921.
InParanoid	Q9UJQ4.
OMA	LFAEFQD.
OrthoDB	EOG4WWRHV.
PhylomeDB	Q9UJQ4.
Gene expression databases
ArrayExpress	Q9UJQ4.
Bgee	Q9UJQ4.
CleanEx	HS_SALL4.
Genevestigator	Q9UJQ4.
GermOnline	ENSG00000101115. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 7 hits.
Pfam	PF00096. zf-C2H2. 6 hits. [Graphical view]
SMART	SM00355. ZnF_C2H2. 8 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 7 hits. PS50157. ZINC_FINGER_C2H2_2. 7 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	63177.
SOURCE	Search...

Entry information

Entry name

SALL4_HUMAN

Accession

Primary (citable) accession number: Q9UJQ4
Secondary accession number(s): Q540H3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 97 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.