Reading the record for MCPH1 from HGNC, NCBI Gene and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 115 seconds for it, and its scripts then bring in the page, or a line saying what did not arrive.
The full name, the identifiers, the location and the notes from the sources arrive with the record. Nothing is filled in ahead of it.
Order door
The door to order for MCPH1 opens with the record, which decides which product it carries. The order page itself is open now.
Cytogenetic band 8p23.1NCBI: 8:6,406,627-6,648,508 on the plus strand, GRCh38.p14 (GCF_000001405.40), sequence NC_000008.11, annotation GCF_000001405.40-RS_2025_08 of 2025-08-01Ensembl: 8:6,406,592-6,648,508 on the plus strand, GRCh38.p14 (GCA_000001405.29), release 116Coordinates are one-based with both ends included, as each source reports them.
NCBI places this gene on more than one sequence of GRCh38.p14 (8 NC_000008.11, 8 NW_018654717.1, 8 NW_025791785.1); the coordinates shown are the 8 placement
Silence this gene
The order page opens with MCPH1 and human filled in. The sequences are designed against the transcripts below; the price is on that page.
Reading NCBI Gene and UniProt.Still reading. A first read of a gene can take a while; this page waits up to 30 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.
02 / Transcripts and isoforms
The RNA a design targets
19 RefSeq and 52 Ensembl transcripts on GRCh38.p14; MANE Select NM_024596.5.
NCBI Datasets · Ensembl
Ready in a moment
Reading NCBI Datasets and Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 80 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.
03 / Expression by tissue
Where MCPH1 is expressed
54 GTEx tissues; the highest median in Cells - EBV-transformed lymphocytes, 4.93 TPM.
GTEx
Ready in a moment
04 / Protein
The protein MCPH1 encodes
835 residues, reviewed Q8NEM0; 12 entries from the member databases this page shows along the chain; mean pLDDT 59.34; 9 PDB entries.
UniProt · InterPro · AlphaFold DB · PDBe
Ready in a moment
05 / Interactions
Proteins STRING associates with MCPH1
Reading STRING.Still reading. A first read of a gene can take a while; this page waits up to 50 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
06 / Pathways
Where MCPH1 acts, as Reactome curates it
1 curated, 0 inferred Reactome pathways for Q8NEM0 in human, v97.
Reactome
Ready in a moment
07 / Disease associations
Diseases linked to MCPH1
1,697 Open Targets disease associations; microcephaly 1, primary, autosomal recessive first, at 0.77.
Open Targets
Ready in a moment
08 / Variants
Classified variants of MCPH1
Reading ClinVar.Still reading. A first read of a gene can take a while; this page waits up to 60 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
09 / Constraint
How much variation MCPH1 tolerates
Reading gnomAD and Open Targets.Still reading. A first read of a gene can take a while; this page waits up to 45 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
10 / Orthologs
The same gene in mouse, rat and human
Reading the Alliance, NCBI, Ensembl Compara and RGD.Still reading. A first read of a gene can take a while; this page waits up to 145 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
11 /MicroRNAs
MicroRNAs hosted within MCPH1
Reading Ensembl and miRBase.Still reading. A first read of a gene can take a while; this page waits up to 110 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
12 / Long non-coding RNAs
Long non-coding RNAs at the MCPH1 locus
Reading Ensembl.Still reading. A first read of a gene can take a while; this page waits up to 110 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
13 / Literature
Papers that mention MCPH1
Reading Europe PMC.Still reading. A first read of a gene can take a while; this page waits up to 55 seconds for it, and its scripts then bring in this line, or a line saying what did not arrive.
Ready in a moment
14 / Silencing this gene
From MCPH1 to a sequence that silences it
The AUMsilence™ platform designs the sequences against the human transcripts on this page. Six decisions are yours before it does. What is written under each is AUM's guidance; the timings and the concentrations are in the usage guide below.
01
Choose the region
A knockdown oligonucleotide can sit in the 5' untranslated region, the coding sequence or the 3' untranslated region, and all three are used. The coding sequence and the 3' untranslated region are the usual first choices for an RNase H design; the 5' end near the start codon suits a steric block. The map above shows where each region sits on the isoforms it draws.
02
Cover the isoforms you mean
An exon every isoform carries silences the whole gene; an exon only some isoforms carry silences those and spares the rest. Decide which you want before a sequence is chosen, and check the reference transcript (MANE Select in human; RefSeq Select and Ensembl canonical in mouse and rat) is the one your cells express.
03
Think across species early
The orthologs panel says whether mouse and rat carry the same gene. Whether one oligonucleotide can serve two species is a sequence question, settled at design by matching the candidate against each transcript, not by the protein identity shown there.
04
Check expression in your model
A transcript that is not expressed in your cells cannot show knockdown. Confirm the gene is expressed in the cell type and condition you will use, from your own data or a reference atlas, before the order. The expression panel above gives GTEx's median per tissue for a human gene; for mouse and rat it says that no atlas is on this page yet.
05
Run the controls
A scramble control of the same chemistry, a positive control against a gene known to knock down in your cells, untreated cells, and a mock condition where a transfection reagent is used. Read knockdown at the RNA level first, then at the protein; the usage guide gives the timing and the concentrations to start from.
06
Pick the product
AUMsilence sdASO needs no transfection reagent and works in the cells that resist one. AUMsilence toASO is the transfection-optimised version of the same design, and AUMsiRNA™ is the siRNA route. The selection guide compares them.
For research use only. Not for use in diagnostic or therapeutic procedures.
Gene summary
This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.
Provided by RefSeq, Feb 2010, through NCBI Gene. NCBI disclaimer
Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex
NCBI Gene summary · NCBI Gene annotation RS_2025_08 · read · NCBI Gene 79648Data from NCBI, provided as is; NCBI's policies and disclaimers apply.
UniProtKB function · 2026_03 · read · UniProt Q8NEM0UniProt data are available under the Creative Commons Attribution 4.0 licence.
Placed on GRCh38.p14 (GCF_000001405.40). MANE Select marks the one transcript RefSeq and Ensembl agree is the reference for this gene.
RefSeq 19 transcripts
coding sequence, tall
untranslated region, thin
non-coding exon
intron, fixed width
Genomic strand: plus. Drawn 5' to 3', so exon 1 sits at the left here and at the lowest coordinate on the chromosome.
NM_024596.5NM_024596.5MANE Select
NM_001322042.2NM_001322042.2
XM_047422234.1XM_047422234.1
XM_017013833.3XM_017013833.3
NM_001363980.2NM_001363980.2
NM_001363979.1NM_001363979.1
NM_001322045.2NM_001322045.2
NM_001172574.2NM_001172574.2
NM_001322043.2NM_001322043.2
NM_001172575.2NM_001172575.2
XM_011534758.4XM_011534758.4
XM_017013829.3XM_017013829.3
NM_001410917.1NM_001410917.1
XM_017013832.3XM_017013832.3
XM_011534757.4XM_011534757.4
XM_047422233.1XM_047422233.1
NM_001410916.1NM_001410916.1
XM_011534756.4XM_011534756.4
NR_136159.2NR_136159.2
scale
Drawn 5' to 3' from each transcript's exons as placed on the reference assembly; exon 1 is the 5' exon on the transcript's own strand. Exon blocks are to scale with each other, except 6 blocks too short to see, widened to a fixed few pixels; introns are drawn at one fixed width whatever their length, so the map is not to scale along the chromosome. Numbers are exon ranks along the strand; a rank is omitted where the exon is too narrow to carry it.
A window on one transcript
One pixel of the map above stands for several bases, and a block too short to see is drawn wider than its own scale, so the map chooses a region and the sequence here chooses the window. Click an exon on a row of the map, or drag across a row; then set the exact start and end below.
These controls are ready in a moment.
No transcript is chosen.
Once a window is chosen this panel shows its length, its G and C count as a percentage of that length, the letters it is made of, the exons it falls in, whether it crosses a junction, and its antisense strand.
NCBI also places this transcript on 8 NW_025791785.1 in this annotation, with 7 exons; only the 8 placement is drawn
transcript variant 7
non coding
none
7
3,606 nt
none
Ready in a moment
Not listed, because the source places them on another assembly only: XM_054361224.1 (not placed on GRCh38.p14); XM_054361225.1 (not placed on GRCh38.p14); XM_054361226.1 (not placed on GRCh38.p14); XM_054361227.1 (not placed on GRCh38.p14); XM_054361228.1 (not placed on GRCh38.p14); XM_054361229.1 (not placed on GRCh38.p14); XM_054361230.1 (not placed on GRCh38.p14); XM_054361231.1 (not placed on GRCh38.p14).
NCBI Datasets, RefSeq transcripts · NCBI Datasets 18.37.0; GCF_000001405.40-RS_2025_08 · read · NCBI Gene 79648Data from NCBI, provided as is; NCBI's policies and disclaimers apply.
Ensembl 52 transcripts
coding sequence, tall
untranslated region, thin
non-coding exon
intron, fixed width
Genomic strand: plus. Drawn 5' to 3', so exon 1 sits at the left here and at the lowest coordinate on the chromosome.
Drawn 5' to 3' from each transcript's exons as placed on the reference assembly; exon 1 is the 5' exon on the transcript's own strand. Exon blocks are to scale with each other, except 1 block too short to see, widened to a fixed few pixels; introns are drawn at one fixed width whatever their length, so the map is not to scale along the chromosome. Numbers are exon ranks along the strand; a rank is omitted where the exon is too narrow to carry it. Showing 1 of 52 isoforms: the ones this catalogue marks as its reference.
A window on one transcript
One pixel of the map above stands for several bases, and a block too short to see is drawn wider than its own scale, so the map chooses a region and the sequence here chooses the window. Click an exon on a row of the map, or drag across a row; then set the exact start and end below.
These controls are ready in a moment.
No transcript is chosen.
Once a window is chosen this panel shows its length, its G and C count as a percentage of that length, the letters it is made of, the exons it falls in, whether it crosses a junction, and its antisense strand.
51 more isoforms are annotated for this gene, carrying 495 exons between them. They are drawn when you ask for them, so that a page for a gene this large does not arrive as several megabytes.
Lengths are spliced lengths, as each source states them. Exon ranks follow the strand: on a minus-strand gene exon 1 has the highest genomic coordinate. Reference assembly for human: GRCh38.
1 microRNA gene overlaps MCPH1 in Ensembl release 116: MIR8055.
ClinVar asked this site to slow down, so the variant counts could not be read. Try again in a minute. Reference a368415b-0b4.
1,344 PubMed-indexed papers mention MCPH1 at Europe PMC, newest first. Europe PMC ignores letter case, so the count also covers another species' symbol spelled with the same letters.
Europe PMC
The 25 highest-scoring STRING partners at or above a combined score of 0.4, of up to 25 asked for; ASPM, CDK5RAP2, STIL lead.
STRING v12.0
Mouse Mcph1 by 3 of 3 votes; rat Mcph1 by 3 of 3 votes. RGD is not answering, so the ortholog list could not be shown. Try again later. Reference ff9e9442-be3.
Alliance · NCBI · Ensembl Compara
pLI below 0.0001 and LOEUF 1.45 in gnomAD v4 (GRCh38), on ENST00000344683.10.
