MCM3AP - minichromosome maintenance complex component 3 associated protein Gene

Also Known as GANP; SAC3; MAP80; PNRIID

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8888

About MCM3AP

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,235,133-46,286,265 (from NCBI)

This gene has 10 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 12.6), spleen (RPKM 12.4) and 25 other tissues.

Summary

The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]

MCM3AP Products (1)

mRNA	Protein	Name
NM_003906.5	NP_003897.2	germinal-center associated nuclear protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	23652018	GOA
enables histone H3 acetyltransferase activity	IDA IDA: Inferred from direct assay	23652018	GOA
enables histone acetyltransferase activity	IDA IDA: Inferred from direct assay	23652018	GOA
enables histone binding	IDA IDA: Inferred from direct assay	23652018	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23591820	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nucleosome organization	IDA IDA: Inferred from direct assay	23652018	GOA
involved in poly(A)+ mRNA export from nucleus	IMP IMP: Inferred from mutant phenotype	23591820	GOA
involved in somatic hypermutation of immunoglobulin genes	IDA IDA: Inferred from direct assay	23652018	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of nuclear pore nuclear basket	IDA IDA: Inferred from direct assay	23591820	GOA
part of transcription export complex 2	IDA IDA: Inferred from direct assay	23591820	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

MCM3AP Protein Structure

SAC3_GANP

0
400
800
1200
1600
1980 a.a.

Protein Preferred Names	Protein Names
germinal-center associated nuclear protein	80 kDa MCM3-associated protein

Related Diseases

Diseases	Alias
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	PNRIID
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Charcot-Marie-Tooth Disease Recessive Intermediate C CMTRIC Ri-Cmtc Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C Ri-Cmt Type C Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C Charcot-Marie-Tooth Neuropathy Recessive Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate E	CMTDIE Charcot-Marie-Tooth Disease Dominant Intermediate E Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E Charcot-Marie-Tooth Disease-Nephropathy Syndrome Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
Meier-Gorlin Syndrome 8	MGORS8
Deafness, Autosomal Dominant 70	DFNA70 Autosomal Dominant Nonsyndromic Deafness 70 Autosomal Dominant Deafness 70 Deafness, Autosomal Dominant, 70
Charcot-Marie-Tooth Disease, Axonal, Type 2t	CMT2T Charcot-Marie-Tooth Disease Axonal Type 2t Charcot-Marie-Tooth Neuropathy, Type 2t Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t Ar-Cmt2t Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy Type 2t Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Cmt2 Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Disease 2t Charcot-Marie-Tooth Neuropathy Axonal Type 2t
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv

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-RS08236	MCM3AP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MCM3AP	VGNC	VGNC:31310
Felis catus	MCM3AP	VGNC	VGNC:68214
Canis familiaris	MCM3AP	VGNC	VGNC:43083
Mus musculus	MCM3AP	MGD	MGI:1930089
Rattus norvegicus	MCM3AP	RGD	RGD:1306834
Macaca mulatta	MCM3AP	VGNC	VGNC:74682
Others	MCM3AP	NCBI