HYLS1 - HYLS1 centriolar and ciliogenesis associated Gene

Also Known as HLS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 219844

About HYLS1

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:125,883,614-125,900,646 (from NCBI)

This gene has 3 transcripts (splice variants), 185 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 4.6), duodenum (RPKM 0.9) and 23 other tissues.

Summary

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

HYLS1 Products (4)

mRNA	Protein	Name
NM_001134793.2	NP_001128265.1	centriolar and ciliogenesis-associated protein HYLS1
NM_001377269.1	NP_001364198.1	centriolar and ciliogenesis-associated protein HYLS1
NM_001377270.1	NP_001364199.1	centriolar and ciliogenesis-associated protein HYLS1
NM_145014.3	NP_659451.1	centriolar and ciliogenesis-associated protein HYLS1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15843405	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15843405	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

HYLS1 Protein Structure

HYLS1_C

0
100
200
299 a.a.

Protein Preferred Names	Protein Names
centriolar and ciliogenesis-associated protein HYLS1 hydrolethalus syndrome protein 1	hydrolethalus syndrome 1

Protein Preferred Names

Protein Names

centriolar and ciliogenesis-associated protein HYLS1

hydrolethalus syndrome protein 1

hydrolethalus syndrome 1

HYLS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	HYLS1	Q96M11	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	25416956
Intra	HYLS1	Q96M11	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hydrolethalus Syndrome 1	Hydrolethalus Syndrome HLS1 Salonen-Herva-Norio Syndrome Hls Hydrolethalus Hydrolethalus Syndrome, Type 1
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome NEDMIGS Mental Retardation, Autosomal Recessive 55, Formerly Mrt55, Formerly Mrt55
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Polyhydramnios
Central Nervous System Malformation
Dandy-Walker Syndrome	Dandy-Walker Malformation DWS Atresia Of Foramina Of Magendie And Luschka Dandy-Walker Complex Dandy-Walker Cyst Dandy-Walker Deformity Dandy Walker Cyst Dw Complex Dandy-Walker Syndrome Or Malformation Dandy-Walker Variant Mega Cisterna Magna Dwm Hydrocephalus, Internal, Dandy-Walker Type Hydrocephalus, Noncommunicating, Dandy-Walker Type Luschka-Magendie Foramina Atresia Isolated Dandy-Walker Malformation Mega-Cisterna Magna Dandy Walker Variant Atresia Of Foramen Of Luschka Atresia Of Foramen Of Magendie Congenital Blockage Of Foramen Magendie
Heart, Malformation Of
Hydrolethalus Syndrome 2	HLS2 Hydrolethalus Syndrome, Type 2
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
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Hyperinsulinemic Hypoglycemia, Familial, 3	HHF3 Hyperinsulinism Due To Glucokinase Deficiency Familial Hyperinsulinemic Hypoglycemia 3 Hyperinsulinemic Hypoglycemia Due To Glucokinase Deficiency Hyperinsulinemic Hypoglycemia Familial 3 Congenital Hyperinsulinism Persistent Hyperinsulinemic Hypoglycemia Of Infancy Phhi Hypoglycemia, Hyperinsulinemic, Familial, Type 3
Complement Component 7 Deficiency	C7 Deficiency C7D
Culler-Jones Syndrome	Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome CJS Pallister-Hall Syndrome 2, Formerly Phs2, Formerly Pallister-Hall Syndrome 2 Phs2
Childhood Lymphoma	Pediatric Lymphoma
Hyperinsulinemic Hypoglycemia, Familial, 2	Persistent Hyperinsulinemic Hypoglycemia Of Infancy Phhi Familial Hyperinsulinism Congenital Hyperinsulinism HHF2 Nesidioblastosis Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia Familial Hyperinsulinemic Hypoglycemia 2 Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency Chi Congenital Isolated Hyperinsulinism Hyperinsulinemic Hypoglycemia, Persistent Hyperinsulinism, Neonatal Hyperinsulinism, Congenital Hyperinsulinism, Familial Hyperinsulinemic Hypoglycemia Familial Hyperinsulinism Congenital Hyperinsulinism Familial With Pancreatic Nesidioblastosis Hypoglycemia Hyperinsulinemic Of Infancy Nesidioblastosis Of Pancreas Hyperinsulinemic Hypoglycemia Familial 2 Hyperinsulinemia Hypoglycemia Of Infancy Infancy Hyperinsulinemia Hypoglycemia Neonatal Hyperinsulinism Persistent Hyperinsulinemia Hypoglycemia Of Infancy Persistent Hyperinsulinemic Hypoglycemia Phhi Hypoglycemia Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency Dominant Katp Hyperinsulinism Due To Kir6.2 Deficiency Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency, Diazoxide-Resistant Focal Form Fhi Familial Hyperinsulinemic Hypoglycemia Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency Hypoglycemia, Hyperinsulinemic, Familial, Type 2 Hi-C
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos

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 (5)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-183819	CRBN ligand-903-trans-1,4-cyclohexanediamine-Boc		/	Unkown
HY-RS06502	HYLS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21599	Hyls1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28117	Hyls1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W570889	DMT-LNA-5mA phosphoramidite		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HYLS1	MGD	MGI:1924082
Rattus norvegicus	HYLS1	RGD	RGD:1594169
Bos taurus	HYLS1	VGNC	VGNC:30014
Canis familiaris	HYLS1	VGNC	VGNC:41846
Macaca mulatta	HYLS1	VGNC	VGNC:101094
Felis catus	HYLS1	VGNC	VGNC:103076
Others	HYLS1	NCBI