MCPH1 (microcephalin 1) - Rat Genome Database

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Gene: MCPH1 (microcephalin 1) Canis lupus familiaris
Analyze
Symbol: MCPH1
Name: microcephalin 1
RGD ID: 12422193
Description: ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN bone development (ortholog); cerebral cortex development (ortholog); establishment of mitotic spindle orientation (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH breast cancer (ortholog); Breast Neoplasms (ortholog); Developmental Disabilities (ortholog); FOUND IN centrosome (inferred); cytoskeleton (inferred)
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: microcephalin; microcephaly, primary autosomal recessive 1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11658,306,761 - 58,529,090 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1658,295,280 - 58,529,433 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1653,827,270 - 54,059,123 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01657,520,814 - 57,753,393 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1657,520,814 - 57,753,412 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11658,441,000 - 58,688,068 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01655,530,366 - 55,762,093 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01655,905,580 - 56,138,767 (-)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IEA)
cytoskeleton  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
MCPH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11658,306,761 - 58,529,090 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1658,295,280 - 58,529,433 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1653,827,270 - 54,059,123 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01657,520,814 - 57,753,393 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1657,520,814 - 57,753,412 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11658,441,000 - 58,688,068 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01655,530,366 - 55,762,093 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01655,905,580 - 56,138,767 (-)NCBIUU_Cfam_GSD_1.0
MCPH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3886,406,627 - 6,648,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl86,406,592 - 6,648,508 (+)EnsemblGRCh38hg38GRCh38
GRCh3786,264,148 - 6,506,029 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,251,529 - 6,493,434 (+)NCBINCBI36Build 36hg18NCBI36
Build 3486,276,479 - 6,489,214NCBI
Celera86,241,660 - 6,478,643 (+)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef86,046,225 - 6,282,052 (+)NCBIHuRef
CHM1_186,352,911 - 6,590,285 (+)NCBICHM1_1
T2T-CHM13v2.086,161,207 - 6,402,976 (+)NCBIT2T-CHM13v2.0
Mcph1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39818,645,132 - 18,858,110 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl818,645,147 - 18,853,205 (+)EnsemblGRCm39 Ensembl
GRCm38818,595,116 - 18,808,089 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl818,595,131 - 18,803,189 (+)EnsemblGRCm38mm10GRCm38
MGSCv37818,595,173 - 18,803,189 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36818,595,150 - 18,803,166 (+)NCBIMGSCv36mm8
Celera818,728,614 - 18,936,696 (+)NCBICelera
Cytogenetic Map8A1.3NCBI
cM Map810.24NCBI
Mcph1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81677,724,251 - 77,926,773 (-)NCBIGRCr8
mRatBN7.21671,021,855 - 71,224,067 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1671,024,588 - 71,224,122 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01675,904,087 - 76,110,624 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1675,904,006 - 76,110,553 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01675,508,903 - 75,716,058 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41675,839,877 - 76,026,968 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1668,871,372 - 69,069,330 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Mcph1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540354,143,454 - 54,273,201 (-)NCBIChiLan1.0ChiLan1.0
MCPH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2721,203,748 - 21,473,839 (+)NCBINHGRI_mPanPan1-v2
Mhudiblu_PPA_v08624,877 - 877,839 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.186,409,072 - 6,651,846 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl86,409,072 - 6,646,394 (+)Ensemblpanpan1.1panPan2
Mcph1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049434,386,615 - 4,580,738 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366154,386,635 - 4,580,747 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366154,386,667 - 4,580,720 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCPH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1537,455,551 - 37,673,633 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11537,455,186 - 37,674,971 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21542,711,671 - 42,747,818 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MCPH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.186,190,272 - 6,425,683 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl86,190,047 - 6,425,131 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605448,304,204 - 48,541,439 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mcph1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248614,373,743 - 4,556,933 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MCPH1
3799 total Variants

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system adipose tissue
High
Medium 8 4 8 4
Low 5 5 14 6 6 6 6 6 8 6 6
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001003366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_038688833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_005438727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_005438728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_005438729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AAEX04000016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY570944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAHUQ010000191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAQRD010000021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAAUVH010000104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  REHQ01000016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSCAFT00000013608   ⟹   ENSCAFP00000012590
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl1658,306,726 - 58,517,427 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000046328   ⟹   ENSCAFP00000039739
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl1658,295,280 - 58,529,433 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000063520   ⟹   ENSCAFP00000048635
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl1658,306,726 - 58,517,045 (+)Ensembl
RefSeq Acc Id: ENSCAFT00000093892   ⟹   ENSCAFP00000061609
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl1658,306,726 - 58,529,433 (+)Ensembl
RefSeq Acc Id: ENSCAFT00845039201   ⟹   ENSCAFP00845030703
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1657,520,814 - 57,753,412 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845039286   ⟹   ENSCAFP00845030773
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1657,520,814 - 57,753,412 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845039419   ⟹   ENSCAFP00845030889
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1657,521,294 - 57,753,412 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845039579   ⟹   ENSCAFP00845031012
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1657,533,699 - 57,751,938 (-)Ensembl
RefSeq Acc Id: NM_001003366   ⟹   NP_001003366
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.11658,306,761 - 58,529,090 (+)NCBI
Dog10K_Boxer_Tasha1653,827,270 - 54,059,123 (+)NCBI
ROS_Cfam_1.01657,521,648 - 57,753,356 (-)NCBI
UMICH_Zoey_3.11658,441,000 - 58,688,068 (+)NCBI
UNSW_CanFamBas_1.01655,530,366 - 55,762,093 (-)NCBI
UU_Cfam_GSD_1.01655,905,580 - 56,138,767 (-)NCBI
Sequence:
RefSeq Acc Id: XM_038688825   ⟹   XP_038544753
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,529,422 - 57,753,393 (-)NCBI
RefSeq Acc Id: XM_038688826   ⟹   XP_038544754
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,533,316 - 57,753,393 (-)NCBI
RefSeq Acc Id: XM_038688827   ⟹   XP_038544755
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,520,814 - 57,753,393 (-)NCBI
RefSeq Acc Id: XM_038688828   ⟹   XP_038544756
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,635,051 - 57,753,393 (-)NCBI
RefSeq Acc Id: XM_038688830   ⟹   XP_038544758
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,609,034 - 57,753,393 (-)NCBI
RefSeq Acc Id: XM_038688831   ⟹   XP_038544759
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,635,051 - 57,753,393 (-)NCBI
RefSeq Acc Id: XM_038688832   ⟹   XP_038544760
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,609,036 - 57,753,393 (-)NCBI
RefSeq Acc Id: XM_038688833   ⟹   XP_038544761
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,521,529 - 57,753,393 (-)NCBI
RefSeq Acc Id: XR_005438727
Type: NON-CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,636,703 - 57,753,393 (-)NCBI
RefSeq Acc Id: XR_005438728
Type: NON-CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,520,814 - 57,753,393 (-)NCBI
RefSeq Acc Id: XR_005438729
Type: NON-CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01657,636,703 - 57,753,393 (-)NCBI
RefSeq Acc Id: NP_001003366   ⟸   NM_001003366
- UniProtKB: Q6PYB7 (UniProtKB/TrEMBL),   A0A8C0MSD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCAFP00000061609   ⟸   ENSCAFT00000093892
RefSeq Acc Id: ENSCAFP00000048635   ⟸   ENSCAFT00000063520
RefSeq Acc Id: ENSCAFP00000012590   ⟸   ENSCAFT00000013608
RefSeq Acc Id: ENSCAFP00000039739   ⟸   ENSCAFT00000046328
RefSeq Acc Id: XP_038544755   ⟸   XM_038688827
- Peptide Label: isoform X3
- UniProtKB: A0A8C0QEA4 (UniProtKB/TrEMBL),   A0A8I3PEE1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038544761   ⟸   XM_038688833
- Peptide Label: isoform X8
- UniProtKB: A0A8P0NR27 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038544753   ⟸   XM_038688825
- Peptide Label: isoform X1
- UniProtKB: A0A8C0MVP3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038544754   ⟸   XM_038688826
- Peptide Label: isoform X2
- UniProtKB: A0A8C0MRT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038544758   ⟸   XM_038688830
- Peptide Label: isoform X5
- UniProtKB: A0A8P0NR27 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038544760   ⟸   XM_038688832
- Peptide Label: isoform X7
- UniProtKB: A0A8P0NR27 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038544759   ⟸   XM_038688831
- Peptide Label: isoform X6
- UniProtKB: A0A8P0NR27 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038544756   ⟸   XM_038688828
- Peptide Label: isoform X4
- UniProtKB: A0A8P0NR27 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSCAFP00845030889   ⟸   ENSCAFT00845039419
RefSeq Acc Id: ENSCAFP00845030703   ⟸   ENSCAFT00845039201
RefSeq Acc Id: ENSCAFP00845030773   ⟸   ENSCAFT00845039286
RefSeq Acc Id: ENSCAFP00845031012   ⟸   ENSCAFT00845039579
Protein Domains
BRCT


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000008577 Ensembl, UniProtKB/TrEMBL
  ENSCAFG00030008491 UniProtKB/TrEMBL
  ENSCAFG00040007966 UniProtKB/TrEMBL
  ENSCAFG00845022163 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000013608.6 UniProtKB/TrEMBL
  ENSCAFT00000046328.3 UniProtKB/TrEMBL
  ENSCAFT00000063520.2 UniProtKB/TrEMBL
  ENSCAFT00000093892.2 UniProtKB/TrEMBL
  ENSCAFT00030015769.1 UniProtKB/TrEMBL
  ENSCAFT00030015820.1 UniProtKB/TrEMBL
  ENSCAFT00030015934.1 UniProtKB/TrEMBL
  ENSCAFT00040015031.1 UniProtKB/TrEMBL
  ENSCAFT00845039201 ENTREZGENE
  ENSCAFT00845039201.1 UniProtKB/TrEMBL
  ENSCAFT00845039286.1 UniProtKB/TrEMBL
  ENSCAFT00845039419 ENTREZGENE
  ENSCAFT00845039419.1 UniProtKB/TrEMBL
  ENSCAFT00845039579.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10190 UniProtKB/TrEMBL
InterPro BRCT_dom UniProtKB/TrEMBL
  BRCT_dom_sf UniProtKB/TrEMBL
  Microcephalin-like UniProtKB/TrEMBL
  Microcephalin_mammal UniProtKB/TrEMBL
KEGG Report cfa:442960 UniProtKB/TrEMBL
NCBI Gene MCPH1 ENTREZGENE
PANTHER MICROCEPHALIN UniProtKB/TrEMBL
  PTHR14625 UniProtKB/TrEMBL
Pfam Microcephalin UniProtKB/TrEMBL
  PTCB-BRCT UniProtKB/TrEMBL
PROSITE BRCT UniProtKB/TrEMBL
SMART BRCT UniProtKB/TrEMBL
Superfamily-SCOP SSF52113 UniProtKB/TrEMBL
UniProt A0A8C0MRT6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0MSD3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0MVP3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0QEA4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3PEE1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3PJX9_CANLF UniProtKB/TrEMBL
  A0A8I3PQL3_CANLF UniProtKB/TrEMBL
  A0A8I3S5H4_CANLF UniProtKB/TrEMBL
  A0A8P0NAZ0_CANLF UniProtKB/TrEMBL
  A0A8P0NR27 ENTREZGENE, UniProtKB/TrEMBL
  A0A8P0NYM6_CANLF UniProtKB/TrEMBL
  A0A8P0PAE6_CANLF UniProtKB/TrEMBL
  Q6PYB7 ENTREZGENE, UniProtKB/TrEMBL
VGNC ID VGNC:43091 ENTREZGENE