ALMS1 - ALMS1 centrosome and basal body associated protein Gene

Homo sapiens

Also known as ALSS

Gene ID: 7840 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31413325	GOA

Biological Process GO Annotation	Evidence	Reference	Source
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	Reference	Source
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

Related Diseases

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00611	ALMS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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