These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in this
section to the one reported in Genomic regions, transcripts, and products above.
Genomic
-
NG_016619.1 RefSeqGene
- Range
- 5001..242028
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001172574.1 → NP_001166045.1 microcephalin isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
- Source sequence(s)
-
AC016065, AI379664, AK301702, BC030702, DC321458
- Consensus CDS
-
CCDS55190.1
- UniProtKB/TrEMBL
-
B4DWW2
- UniProtKB/Swiss-Prot
-
Q8NEM0
- Related
- ENSP00000430962, OTTHUMP00000224562, ENST00000519480, OTTHUMT00000374531
- Conserved Domains (2) summary
-
- pfam12258
Location:225 – 608
Blast Score: 1411
- Microcephalin; Microcephalin protein
- cl00038
Location:9 – 75
Blast Score: 178
- BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
-
NM_001172575.1 → NP_001166046.1 microcephalin isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
- Source sequence(s)
-
AC016065, AI379664, AK301702, BC030702, DC321458
- Consensus CDS
-
CCDS55191.1
- UniProtKB/TrEMBL
-
B4DWW2
- UniProtKB/TrEMBL
-
E9PH63
- UniProtKB/Swiss-Prot
-
Q8NEM0
- Related
- ENSP00000430768, OTTHUMP00000224501, ENST00000522905, OTTHUMT00000374667
- Conserved Domains (2) summary
-
- pfam12258
Location:177 – 560
Blast Score: 1408
- Microcephalin; Microcephalin protein
- cl00038
Location:9 – 75
Blast Score: 178
- BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
-
NM_024596.3 → NP_078872.2 microcephalin isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (1).
- Source sequence(s)
-
AC016065, AF287957, AI480294, BC030702, BC056195, BK004076, DC321458
- Consensus CDS
-
CCDS43689.1
- UniProtKB/Swiss-Prot
-
Q8NEM0
- Related
- ENSP00000342924, OTTHUMP00000224448, ENST00000344683, OTTHUMT00000374532
- Conserved Domains (2) summary
-
- pfam12258
Location:225 – 608
Blast Score: 1438
- Microcephalin; Microcephalin protein
- cl00038
Location:9 – 75
Blast Score: 175
- BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs
for chromosomes and scaffolds (contigs) from both reference and alternate assemblies.
Model RNAs and proteins are also reported here.
Reference GRCh37.p5 Primary Assembly
Genomic
-
NC_000008.10 Reference GRCh37.p5 Primary Assembly
- Range
- 6264113..6501140
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000140.1 Alternate HuRef
- Range
- 6046225..6282052
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)