ASB10 - ankyrin repeat and SOCS box containing 10 Gene

Homo sapiens

Also known as GLC1F

Gene ID: 136371 | Gene type: protein coding

About ASB10

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,175,698-151,187,792 (from NCBI)

This gene has 4 transcripts (splice variants), 194 orthologues, 7 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 1.4), prostate (RPKM 0.5) and 1 other tissue.

Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]

ASB10 Products(3)

mRNA	Protein	Name
NM_001142459.2	NP_001135931.2	ankyrin repeat and SOCS box protein 10 isoform 1
NM_001142460.1	NP_001135932.2	ankyrin repeat and SOCS box protein 10 isoform 2
NM_080871.4	NP_543147.2	ankyrin repeat and SOCS box protein 10 isoform 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22156576	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22156576	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

ASB10 Protein Structure

Ank_2

Ank

Ank_2

SOCS_box

0
100
200
300
400
467 a.a.

Protein Preferred Names

Protein Names

ankyrin repeat and SOCS box protein 10

Related Diseases

Diseases

Alias

Glaucoma 1, Open Angle, F

GLC1F	Glaucoma, Primary Open Angle, Adult-Onset
Adult-Onset Primary Open Angle Glaucoma	Poag
Primary Open Angle Glaucoma 1f	Glaucoma, Primary Open Angle

Open-Angle Glaucoma

Glaucoma Simplex	Pigmentary Glaucoma
Wide-Angle Glaucoma	Glaucoma, Open-Angle
Open Angle Glaucoma	Glaucoma Open-Angle
Chronic Simple Glaucoma	Coag - [Chronic Open-Angle Glaucoma]
Csg - [Chronic Simple Glaucoma]	Poag - [Primary Open-Angle Glaucoma]
Oag - [Open-Angle Glaucoma]	Chronic Glaucoma
Chronic Open Angle Glaucoma	Simple Glaucoma
Chronic Noncongestive Glaucoma	Ltg - [Low Tension Glaucoma]
Noncongestive Glaucoma	Nonobstructive Glaucoma
Normal Pressure Glaucoma	Primary Low Tension Glaucoma
Low-Tension Glaucoma	Residual Stage Low Tension Glaucoma
Open Cleft Glaucoma

Non-Syndromic X-Linked Intellectual Disability 103

Mrx103

X-Linked Mental Retardation 103

Syndromic X-Linked Intellectual Disability Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type	Intellectual Disability, X-Linked Syndromic, Turner Type
Brooks-Wisniewski-Brown Syndrome	Mental Retardation And Macrocephaly Syndrome
Mrxst	X-Linked Intellectual Disability, Brooks Type
Mental Retardation, X-Linked, Syndromic, Turner Type

Ataxia, Sensory, 1, Autosomal Dominant

Autosomal Dominant Sensory Ataxia 1	SNAX1
Adsa	Ataxia, Sensory, Type 1, Autosomal Dominant
Ataxia, Sensory, Autosomal Dominant

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Non-Syndromic X-Linked Intellectual Disability 101

Mrx101

X-Linked Mental Retardation 101

Neuronopathy, Distal Hereditary Motor, Type Iid

HMN2D	Hmn Iid
Dhmn2d	Distal Hereditary Motor Neuronopathy Type 2d
Distal Hereditary Motor Neuropathy Type Iid	Neuronopathy, Distal Hereditary Motor, Type 2d
Neuropathy, Distal Hereditary Motor, Type Iid	Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant
Distal Spinal Muscular Atrophy With Calf Predominance	Neuronopathy, Distal Hereditary Motor, 2d
Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant	Dhmn Iid
Neuropathy, Motor, Distal, Hereditary, Type 2d

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Primary Congenital Glaucoma

Ocular Pigment Dispersion With Or Without Glaucoma

Pigment Dispersion Syndrome	Glaucoma-Related Pigment Dispersion Syndrome
OPDG	Pds
Glaucoma, Pigment-Dispersion Type	Gpds1
Pigment-Dispersion Type Glaucoma	Pigment-Dispersion Syndrome
Glaucoma, Open-Angle

Charcot-Marie-Tooth Disease, Axonal, Type 2r

Charcot-Marie-Tooth Disease Type 2r	CMT2R
Charcot-Marie-Tooth Neuropathy, Type 2r	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r
Charcot-Marie-Tooth Disease, Type 2r	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r
Charcot-Marie-Tooth Neuropathy Type 2r	Charcot-Marie-Tooth Disease 2r
Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r	Charcot-Marie-Tooth Disease Axonal Type 2r
Charcot-Marie-Tooth Neuropathy Axonal Type 2r

Syndromic X-Linked Intellectual Disability Cabezas Type

Cabezas Syndrome	Syndromic X-Linked Mental Retardation 15
Mental Retardation, X-Linked, Syndromic 15	Mrss
Mrxs15	Mrxsc
X-Linked Mental Retardation With Short Stature	X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait
Mental Retardation, X-Linked, With Short Stature	Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Kaufman Oculocerebrofacial Syndrome

KOS	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Oculocerebrofacial Syndrome, Kaufman Type	Bpids
Blepharophimosis Ptosis Intellectual Disability Syndrome	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet	Bpid Syndrome

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Axenfeld-Rieger Syndrome

Axenfeld Syndrome	Rieger Syndrome
Rieger Anomaly	Axenfeld Anomaly
Anomaly, Rieger'S	Hagedoom Syndrome
Rgs - Rieger Syndrome	Rieger'S Anomaly
Goniodysgenesis Hypodontia	Iridogoniodysgenesis With Somatic Anomalies
Ars	Axenfeld And Rieger Anomaly
Axra	Axrs
Rieger Eye Malformation Sequence

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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-RS01059	ASB10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ASB10	VGNC	VGNC:38155
Rattus norvegicus	ASB10	RGD	RGD:1562922
Felis catus	ASB10	VGNC	VGNC:69350
Mus musculus	ASB10	MGD	MGI:2152836
Bos taurus	ASB10	VGNC	VGNC:26187
Macaca mulatta	ASB10	VGNC	VGNC:80794

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