STAC3 - SH3 and cysteine rich domain 3 Gene

Also Known as NAM; MYPBB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 246329

About STAC3

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,243,458-57,251,187 (from NCBI)

This gene has 7 transcripts (splice variants), 224 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 23.6), esophagus (RPKM 13.8) and 8 other tissues.

Summary

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]

STAC3 Products (3)

mRNA	Protein	Name
NM_001286256.2	NP_001273185.1	SH3 and cysteine-rich domain-containing protein 3 isoform b
NM_001286257.2	NP_001273186.1	SH3 and cysteine-rich domain-containing protein 3 isoform c
NM_145064.3	NP_659501.1	SH3 and cysteine-rich domain-containing protein 3 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in neuromuscular synaptic transmission	IMP IMP: Inferred from mutant phenotype	23736855	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	23736855	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

STAC3 Protein Structure

C1_1

SH3_1

SH3_2

0
100
200
300
364 a.a.

Protein Preferred Names	Protein Names
SH3 and cysteine-rich domain-containing protein 3

STAC3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	STAC3	Q96MF2	NKAPD1	Homo sapiens	Q6ZUT1-2	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5-2	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5-2	Validated Y2H	25416956
Intra	STAC3	Q96MF2	DIP2A	Homo sapiens	Q14689-6	Validated Y2H	25416956
Intra	STAC3	Q96MF2	DIP2A	Homo sapiens	Q14689-6	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	DIP2A	Homo sapiens	Q14689-6	Y2H Array	25416956
Intra	STAC3	Q96MF2	MAB21L3	Homo sapiens	Q8N8X9	Y2H Array	31515488
Intra	STAC3	Q96MF2	MAB21L3	Homo sapiens	Q8N8X9	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	FAM133A	Homo sapiens	Q8N9E0	Y2H Array	25416956
Intra	STAC3	Q96MF2	SREK1IP1	Homo sapiens	Q8N9Q2	Validated Y2H	25416956
Intra	STAC3	Q96MF2	BAZ2B	Homo sapiens	Q9UIF8-2	Validated Y2H	25416956
Intra	STAC3	Q96MF2	BAZ2B	Homo sapiens	Q9UIF8-2	Y2H Array	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5	Validated Y2H	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5	Y2H Array	25416956
Intra	STAC3	Q96MF2	CSNK2A1	Homo sapiens	P68400	Y2H Array	29892012
Intra	STAC3	Q96MF2	CSNK2A1	Homo sapiens	P68400	Y2H Array	25416956
Intra	STAC3	Q96MF2	NKAPD1	Homo sapiens	Q6ZUT1	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	STAC3	Q96MF2	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	STAC3	Q96MF2	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	STAC3	Q96MF2	ZCCHC10	Homo sapiens	Q8TBK6	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	INO80B	Homo sapiens	Q9C086	Validated Y2H	32296183
Intra	STAC3	Q96MF2	HMGXB4	Homo sapiens	Q9UGU5	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	HMGXB4	Homo sapiens	Q9UGU5	Validated Y2H	32296183
Intra	STAC3	Q96MF2	HMGXB4	Homo sapiens	Q9UGU5	Y2H Array	32296183
Intra	STAC3	Q96MF2	L3MBTL2	Homo sapiens	Q969R5	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	L3MBTL2	Homo sapiens	Q969R5	Y2H Array	25416956
Intra	STAC3	Q96MF2	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	STAC3	Q96MF2	MMTAG2	Homo sapiens	Q9BU76	Validated Y2H	32296183
Intra	STAC3	Q96MF2	ENKD1	Homo sapiens	Q9H0I2	Y2H	21516116
Intra	STAC3	Q96MF2	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
Intra	STAC3	Q96MF2	FAM124A	Homo sapiens	Q86V42	Y2H Array	25416956
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Pull Down	16189514
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Y2H Array	25416956
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Y2H Pooling	16189514
Intra	STAC3	Q96MF2	FAM9A	Homo sapiens	Q8IZU1	Y2H Array	32296183
Intra	STAC3	Q96MF2	FAM9A	Homo sapiens	Q8IZU1	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	GIGYF1	Homo sapiens	O75420	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	GIGYF1	Homo sapiens	O75420	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Congenital, Bailey-Bloch	Native American Myopathy Nam MYPBB Myopathy, Congenital, Baily-Bloch Anti-Hmg-Coa Myopathy Anti-Srp Myopathy Autoimmune Necrotizing Myositis Imnm Immune Myopathy With Myocyte Necrosis Immune-Mediated Necrotizing Myopathy Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia Necrotizing Autoimmune Myopathy Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
Stac3 Disorder	Native American Myopathy Bailey-Bloch Congenital Myopathy Congenital Myopathy - Cleft Palate - Malignant Hyperthermia Congenital Myopathy Cleft Palate And Malignant Hyperthermia Congenital Myopathy With Myopathic Facies, Scoliosis, And Malignant Hyperthermia Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome Myopathy, Congenital, Bailey-Bloch Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia Nam
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
King-Denborough Syndrome	King Denborough Syndrome King Syndrome Kousseff Nichols Syndrome KDS Noonan Like Contracture Myopathy Hyperpyrexia Anesthetic-Induced Malignant Hyperpyrexia In Children Koussef-Nichols Syndrome
Carey-Fineman-Ziter Syndrome 1	Carey-Fineman-Ziter Syndrome CFZS Congenital Nonprogressive Myopathy With Moebius And Robin Sequences Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence Cfz Syndrome Carey Fineman Ziter Syndrome Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences Myopathy-Moebius-Robin Syndrome CFZS1 Moebius Sequence, Robin Complex, And Hypotonia Congenital Non-Progressive Myopathy With Moebius And Robin Sequences
Myopathy	Muscular Diseases Myopathies
Malignant Hyperthermia Susceptibility	Malignant Hyperpyrexia Hyperthermia, Malignant, Susceptibility Malignant Hyperpyrexia Due To Anesthesia
Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement	CFEOM3A Fibrosis Of Extraocular Muscles, Congenital, 3a Congenital Fibrosis Of The Extraocular Muscles 3a Feom3 Locus Congenital Fibrosis Of Extraocular Muscles 3a With Or Without Extraocular Involvement Feom3 Tubb3 Syndrome Fibrosis Of Extraocular Muscles, Congenital, Type 3a
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Developmental And Epileptic Encephalopathy 42	DEE42 Epileptic Encephalopathy, Early Infantile, 42 Eiee42 Developmental And Epileptic Encephalopathy, 42 Early Infantile Epileptic Encephalopathy 42 Encephalopathy, Epileptic, Early Infantile, Type 42
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	EMARDD Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Alzheimer Disease 8	Ad8 Alzheimer'S Disease 8 Alzheimer Disease, Familial, 8 Alzheimer Disease, Familial 8 Alzheimer'S Disease 8, Late Onset
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Lagophthalmos	Defective Lid Closure Poor Closure Eyelids
Congenital Structural Myopathy
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13865	STAC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	STAC3	VGNC	VGNC:46872
Mus musculus	STAC3	MGD	MGI:3606571
Felis catus	STAC3	VGNC	VGNC:65743
Macaca mulatta	STAC3	VGNC	VGNC:78010
Bos taurus	STAC3	VGNC	VGNC:35352
Rattus norvegicus	STAC3	RGD	RGD:1308964
Others	STAC3	NCBI