1. Gene
  2. HYLS1 - HYLS1 centriolar and ciliogenesis associated Gene

HYLS1 - HYLS1 centriolar and ciliogenesis associated Gene

中文名称:HYLS1 中心粒和纤毛发生相关

种属: Homo sapiens

同用名: HLS

基因 ID: 219844 | 基因类型: protein coding

关于 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.

功能概要

该基因编码定位于细胞质的蛋白质。该基因的突变与水致死综合症有关。已经鉴定出编码相同蛋白质的多个可变剪接变体。[RefSeq 提供,2008 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15843405 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15843405 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HYLS1 蛋白结构

HYLS1_C

HYLS1_C: Hydrolethalus syndrome protein 1 C-terminus (196 - 284)

  • 0
  • 100
  • 200
  • 299 a.a.
蛋白主名 其他名称

centriolar and ciliogenesis-associated protein HYLS1

hydrolethalus syndrome protein 1

hydrolethalus syndrome 1

HYLS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra HYLS1 Q96M11 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
25416956
Intra HYLS1 Q96M11 GOLGA2 Homo sapiens Q08379
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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