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SALL4 spalt-like transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 57167, updated on 19-Jul-2014
Official Symbol
SALL4provided by HGNC
Official Full Name
spalt-like transcription factor 4provided by HGNC
Primary source
HGNC:15924
See related
Ensembl:ENSG00000101115; HPRD:08458; MIM:607343; Vega:OTTHUMG00000032752
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DRRS; HSAL4; ZNF797; dJ1112F19.1
Summary
The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). [provided by RefSeq, Jul 2008]
See SALL4 in Epigenomics, MapViewer
Location:
20q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (51784012..51802509, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (50400551..50419059, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 Neighboring gene microRNA 3194 Neighboring gene ATPase, class II, type 9A Neighboring gene ribosomal protein L29 pseudogene Neighboring gene long intergenic non-protein coding RNA 1429 Neighboring gene RNA, U7 small nuclear 6 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Duane-radial ray syndrome
MedGen: C1623209 OMIM: 607323 GeneReviews: SALL4-Related Disorders
Compare labs
IVIC syndrome
MedGen: C1327918 OMIM: 147750 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-19)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC133050

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
stem cell maintenance IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
heterochromatin IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
sal-like protein 4
Names
sal-like protein 4
zinc finger protein 797
zinc finger protein SALL4

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008000.1 

    Range
    5001..23468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_675

mRNA and Protein(s)

  1. NM_020436.3NP_065169.1  sal-like protein 4

    See proteins identical to NP_065169.1

    Status: REVIEWED

    Source sequence(s)
    AI638036, AK001666, AY172738, DB066881
    Consensus CDS
    CCDS13438.1
    UniProtKB/Swiss-Prot
    Q9UJQ4
    Related
    ENSP00000217086, OTTHUMP00000031296, ENST00000217086, OTTHUMT00000079738
    Conserved Domains (5) summary
    smart00355
    Location:382404
    Blast Score: 85
    ZnF_C2H2; zinc finger
    cd11674
    Location:791891
    Blast Score: 91
    lambda-1; inner capsid protein lambda-1 or VP3
    COG5048
    Location:562920
    Blast Score: 91
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:626648
    Blast Score: 86
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:580605
    Blast Score: 122
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    51784012..51802509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723835.1XP_006723898.1  

    See proteins identical to XP_006723898.1

    Conserved Domains (5) summary
    smart00355
    Location:280302
    Blast Score: 87
    ZnF_C2H2; zinc finger
    cd11674
    Location:689789
    Blast Score: 90
    lambda-1; inner capsid protein lambda-1 or VP3
    COG5048
    Location:460818
    Blast Score: 91
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:524546
    Blast Score: 88
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:478503
    Blast Score: 124
    zf-H2C2_2; Zinc-finger double domain
  2. XM_006723834.1XP_006723897.1  

    See proteins identical to XP_006723897.1

    Conserved Domains (5) summary
    smart00355
    Location:280302
    Blast Score: 87
    ZnF_C2H2; zinc finger
    cd11674
    Location:689789
    Blast Score: 90
    lambda-1; inner capsid protein lambda-1 or VP3
    COG5048
    Location:460818
    Blast Score: 91
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:524546
    Blast Score: 88
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:478503
    Blast Score: 124
    zf-H2C2_2; Zinc-finger double domain
  3. XM_005260467.1XP_005260524.1  

    See proteins identical to XP_005260524.1

    Conserved Domains (5) summary
    smart00355
    Location:280302
    Blast Score: 87
    ZnF_C2H2; zinc finger
    cd11674
    Location:689789
    Blast Score: 90
    lambda-1; inner capsid protein lambda-1 or VP3
    COG5048
    Location:460818
    Blast Score: 91
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam00096
    Location:524546
    Blast Score: 88
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:478503
    Blast Score: 124
    zf-H2C2_2; Zinc-finger double domain

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    47147931..47166405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    50305475..50323937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)