ALMS1 - ALMS1 centrosome and basal body associated protein Gene

Also Known as ALSS

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 7840

About ALMS1

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:73,385,758-73,609,919 (from NCBI)

This gene has 25 transcripts (splice variants), 114 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 15.5), ovary (RPKM 5.0) and 21 other tissues.

Summary

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

ALMS1 Products (2)

mRNA	Protein	Name
NM_001378454.1	NP_001365383.1	centrosome-associated protein ALMS1 isoform 2
NM_015120.4	NP_055935.4	centrosome-associated protein ALMS1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	31413325	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
acts upstream of or within endosomal transport	IMP IMP: Inferred from mutant phenotype	22693585	GOA
acts upstream of or within regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	22693585	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
colocalizes with centriole	IDA IDA: Inferred from direct assay	20844083	GOA
located in centrosome	IDA IDA: Inferred from direct assay	15855349	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

ALMS1 Protein Structure

ALMS_motif

0
700
1400
2100
2800
3500
4167 a.a.

Protein Preferred Names	Protein Names
centrosome-associated protein ALMS1	Alstrom syndrome 1

関連疾患

Diseases	Alias
Alstrom Syndrome	ALMS Alström Syndrome Alss Alstrom-Hallgren Syndrome Alstroem Syndrome
Retinohepatoendocrinologic Syndrome	Alstrom'S Syndrome Rhe Syndrome Alström Syndrome Alms Alss Alstrom Syndrome Rh Deficiency Syndrome Rh Disease
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Leukodystrophy	Leukodystrophies
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Acanthosis Nigricans	Keratosis Nigricans An
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, And Leber Congenital Amaurosis Shilca Syndrome SHILCA Spondyloepiphyseal Dysplasia-Sensorineural Hearing Loss-Intellectual Disability-Leber Congenital Amaurosis Syndrome
Deafness, Autosomal Recessive 66	DFNB66 Autosomal Recessive Nonsyndromic Deafness 66 Autosomal Recessive Deafness 66 Deafness, Autosomal Recessive, 66 Deafness, Autosomal Recessive, Type 66
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Borjeson-Forssman-Lehmann Syndrome	BFLS Borj Borjeson Syndrome Mrxsbfl Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type Mental Retardation, Epilepsy, And Endocrine Disorders Mental Retardation, Epilepsy, And Endocrine Disorder Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type Mental Deficiency, Epilepsy And Endocrine Disorders Boerjeson-Forssman-Lehmann Syndrome Borjeson-Forssman Syndrome Mental Deficiency-Epilepsy- Endocrine Disorders
Diabetes Mellitus	Diabetes
Bardet-Biedl Syndrome 6	BBS6 Bardet-Biedl Syndrome, Type 6
Transvestism	Dual-Role Transvestism Fetishistic Transvestism Cross Dresser Transvestic Fetishism
Bardet-Biedl Syndrome 10	BBS10 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 10
Bardet-Biedl Syndrome 1	BBS1 Bardet-Biedl Syndrome 1, Modifier Of Bardet-Biedl Syndrome BBS Bardet-Biedl Syndrome, Type 1 Laurence-Moon-Bardet-Biedl Syndrome
Leptin Deficiency Or Dysfunction	Morbid Obesity Obesity Due To Congenital Leptin Deficiency LEPD Congenital Leptin Deficiency Obesity, Morbid Obesity, Morbid, Due To Leptin Deficiency Severe Obesity Obesity, Morbid, Nonsyndromic 1 Leptin Deficiency Obesity, Severe, Due To Leptin Deficiency Leptin Morbid Obesity Due To Leptin Deficiency Obesity Morbid Leptin Dysfunction
Pseudohypoparathyroidism, Type Ia	Albright'S Hereditary Osteodystrophy Albright Hereditary Osteodystrophy Pseudohypoparathyroidism Type 1a PHP1A Albright Hereditary Osteodystrophy With Multiple Hormone Resistance Pseudohypoparathyroidism Ia AHO Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy Pseudo-Pseudohypoparathyroidism Pseudohypoparathyroidism Type I A Php Ia Pseudopseudohypoparathyroidism Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance Pphp Pseudopseudo-Hypoparathyroidism Aho-Php Syndrome Ia Albright Hereditary Osteodystrophy-Php Syndrome Ia Pseudohypoparathyroidism 1a Pseudohypoparathyroidism
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
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
Usher Syndrome, Type Id	Usher Syndrome Type 1d USH1D Usher Syndrome, Type 1d Usher Syndrome Type Id Usher Syndrome, Type Id/F, Digenic Usher Syndrome, Type 1d/F Digenic Usher Syndrome 1d Usher'S Syndrome Type 1d Usher Syndrome 1d/F USH1DF Ush1d/F Usher'S Syndrome Type 1h Usher Syndrome 1h Usher Syndrome Type Ih Usher Syndrome, Type 1d/F
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

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 (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS00611	ALMS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22387	Alms1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28911	Alms1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	ALMS1	MGD	MGI:1934606
Rattus norvegicus	ALMS1	RGD	RGD:1311590
Felis catus	ALMS1	VGNC	VGNC:82432
Macaca mulatta	ALMS1	VGNC	VGNC:69794
Bos taurus	ALMS1	VGNC	VGNC:54402
Canis familiaris	ALMS1	VGNC	VGNC:54917
Others	ALMS1	NCBI