SALL1 - spalt like transcription factor 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6299

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12417	SALL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SALL1	NCBI