SALL1 - spalt like transcription factor 1 Gene

Homo sapiens

Also known as TBS; HSAL1; Sal-1; ZNF794; HEL-S-89

Gene ID: 6299 | Gene type: protein coding

About SALL1

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:51,135,982-51,152,334 (from NCBI)

This gene has 7 transcripts (splice variants), 237 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 14.2), thyroid (RPKM 12.6) and 8 other tissues.

Summary

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SALL1 Products(2)

mRNA	Protein	Name
NM_001127892.2	NP_001121364.1	sal-like protein 1 isoform b
NM_002968.3	NP_002959.2	sal-like protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-catenin binding	IDA IDA: Inferred from direct assay	15158448	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18297069	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adrenal gland development	IEP IEP: Inferred from expression pattern	12065233	GOA
involved in embryonic digestive tract development	IMP IMP: Inferred from mutant phenotype	18280297	GOA
involved in embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	18280297	GOA
involved in gonad development	IEP IEP: Inferred from expression pattern	11511981	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	11484202	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	16971658	GOA
involved in limb development	IMP IMP: Inferred from mutant phenotype	18470945	GOA
involved in mesenchymal to epithelial transition involved in metanephros morphogenesis	IEP IEP: Inferred from expression pattern	11511981	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16443351	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16443351	GOA
involved in olfactory bulb mitral cell layer development	IMP IMP: Inferred from mutant phenotype	18024993	GOA
involved in pituitary gland development	IEP IEP: Inferred from expression pattern	12065233	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15158448	GOA
involved in positive regulation of Wnt signaling pathway	IDA IDA: Inferred from direct assay	15158448	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15158448	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromocenter	IDA IDA: Inferred from direct assay	16443351	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12065233	GOA
located in heterochromatin	IDA IDA: Inferred from direct assay	15158448	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12065233	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SALL1 Protein Structure

zf-H2C2_2

zf-C2H2_4

zf-H2C2_2

0
300
600
900
1200
1324 a.a.

Protein Preferred Names

Protein Names

sal-like protein 1

epididymis secretory protein Li 89

SALL1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SALL1	Q9NSC2	PPP1R13B	Homo sapiens	Q96KQ4	Y2H Prey Pooling	32296183
Intra	SALL1	Q9NSC2	PPP1R13B	Homo sapiens	Q96KQ4	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Townes-Brocks Syndrome 1

Townes-Brocks Branchiootorenal-Like Syndrome	TBS1
Renal-Ear-Anal-Radial Syndrome	Rear Syndrome
Anus, Imperforate, With Hand, Foot, And Ear Anomalies	Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies
Townes-Brocks-Branchiootorenal-Like Syndrome

Townes-Brocks Syndrome

Townes Syndrome	Renal-Ear-Anal-Radial Syndrome
Anus, Imperforate, With Hand, Foot And Ear Anomalies	Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome
Rear Syndrome	Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs
Tbs	Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs
Imperforate Anus With Hand, Foot And Ear Anomalies	Anal-Ear-Renal-Radial Malformation Syndrome
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome	Imperforate Anus-Hand And Foot Anomalies Syndrome
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome	Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Duane-Radial Ray Syndrome

Okihiro Syndrome	DRRS
Dr Syndrome	Duane Anomaly With Radial Ray Abnormalities And Deafness
Acrorenoocular Syndrome	Acrorenocular Syndrome
Duane Anomaly With Radial Abnormalities And Deafness	Acro-Renal-Ocular Syndrome

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Renal Hypodysplasia/Aplasia 1

Renal Agenesis	Renal Adysplasia
Renal Aplasia	RHDA1
Hereditary Renal Aplasia	Hra
Hereditary Urogenital Adysplasia	Hypodysplasia/Aplasia, Renal, Type 1
Congenital Absence Of Kidneys Syndrome	Congenital Absence Of Kidney
Aplastic Kidney

Ivic Syndrome

Oculootoradial Syndrome	Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, And Thrombocytopenia
IVIC	Instituto Venezolano De Investigaciones Cientificas Syndrome
Oculo-Oto-Radial Syndrome	Oors

Papillorenal Syndrome

Renal Coloboma Syndrome	Coloboma Of Optic Nerve With Renal Disease
Renal-Coloboma Syndrome	Optic Nerve Coloboma With Renal Disease
Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies	Renal-Coloboma Syndrome With Macular Abnormalities
Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities	Cakut With Or Without Ocular Abnormalities
PAPRS	Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies
Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease	Coloboma-Ureteral-Renal Syndrome
Oncr	Optic Nerve Coloboma Renal Syndrome
Rcs	Papillo-Renal Syndrome
Optic Coloboma Vesicoureteral Reflux And Renal Anomalies

Anus, Imperforate

Imperforate Anus	Anorectal Malformation
Anal Atresia	Anorectal Malformations
Congenital Atresia Of Anus	Congenital Or Infantile Occlusion Of Anus
Anal Stenosis	Arm

Anus Disease

Anal Fissure	Ulcer Of Anus
Anus Diseases	Anal Disease
Anal Fissure And Fistula	Anal Ulcer
Fissure In Ano	Nontraumatic Tear Of Anus
Solitary Anal Ulcer	Abnormality Of The Anus
Anal Disorders	Ulcer Of Anus And Rectum
Solitary Ulcer Of Anus	Stercoral Ulcer Of Anus

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Craniofacial Microsomia

Goldenhar Syndrome	Hemifacial Microsomia
Oculoauriculovertebral Spectrum	Oavs
Oculo-Auriculo-Vertebral Spectrum	CFM
Oav Dysplasia	Facioauriculovertebral Sequence
Fav Sequence	First And Second Branchial Arch Syndrome
Otomandibular Dysostosis	Hfm
Oculoauriculovertebral Dysplasia	Facio-Auriculo-Vertebral Spectrum
Facioauriculovertebral Dysplasia	Oculo-Auriculo-Vertebral Dysplasia
First Arch Syndrome	Oav Dysplasia
Goldenhar Disease	Expanded Spectrum Hemifacial Microsomia
Expanded Spectrum Of Hemifacial Microsomia	Oculoauriculovertebral Syndrome
Oavd	Asymmetric Hypoplasia Of Facial Structures
Auriculobranchiogenic Dysplasia	Fav
First And Second Pharyngeal Arch Syndromes	Goldenhar-Gorlin Syndrome
Lateral Facial Dysplasia	Oav Complex
Oral-Mandibular-Auricular Syndrome	Unilateral Intrauterine Facial Necrosis
Unilateral Mandibulofacial Dysostosis	Oav Spectrum
Oculoauricular Vertebral Dysplasia	Microsomia, Hemifacial
Goldenhar Syndrome With Ipsilateral Radial Defect

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome	Bor Syndrome
Branchiootorenal Dysplasia	Melnick-Fraser Syndrome
Branchiootorenal Spectrum Disorders	Branchio-Otorenal Dysplasia
Branchio Oto Renal Syndrome	Branchiootorenal/Branchiootic Syndrome
Bo Syndrome	Bor
Bos	Branchio-Otorenal Syndrome
Branchiootic Syndrome	Branchiootorenal Syndrome
Branchiootic Syndrome 1

Plasmodium Vivax Malaria

Malaria, Vivax	Malaria By Plasmodium Vivax
Vivax Malaria	Malaria Vivax

Renal Hypoplasia

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations

Star Syndrome	Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Syndactyly With Renal And Anogenital Malformations	STAR
Syndactyly, Telecanthus, Anogenital And Renal Malformations	Toe Syndactyly, Telecanthus, Anogenital And Renal Malformations

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Vacterl Association

Vater Association

Vater Syndrome

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Mixed Malaria

Malaria By More Than One Parasite

Malaria Fever By More Than One Parasite

Rectal Disease

Rectal Diseases

Rectal Disorders

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Oligomeganephronia

Oligomeganephronic Renal Hypoplasia

Oligomeganephronic Hypoplasia Of Kidney

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome	BOFS
Bof Syndrome	Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome	Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging	Bofs Syndrome
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

Prune Belly Syndrome

Eagle-Barrett Syndrome	Abdominal Muscle Deficiency Syndrome
PBS	Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism
Egbrs	Eagle-Barret Syndrome
Urethral Obstruction Sequence	Obrinsky Syndrome
Triad Syndrome	Obrisnksy Syndrome
Euos	Early Urethral Obstruction Sequence
Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction	Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism
Abdomen Muscle Deficiency Syndrome	Abdomen Muscular Deficiency Syndrome
Abdominal Muscular Deficiency Syndrome	Abdominal Muscle Aplasia Syndrome

Gastroesophageal Reflux

Gastroesophageal Reflux Disease	Gerd
GER	Gastroesophageal Reflux, Pediatric
Acid Reflux	Gastresophageal Reflux
Gastro-Esophageal Reflux	Gerd - Gastro-Esophageal Reflux Disease

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12417	SALL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SALL1	VGNC	VGNC:45847
Rattus norvegicus	SALL1	RGD	RGD:1309916
Macaca mulatta	SALL1	VGNC	VGNC:76966
Felis catus	SALL1	VGNC	VGNC:64857
Bos taurus	SALL1	VGNC	VGNC:34264
Mus musculus	SALL1	MGD	MGI:1889585