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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_008860.1 RefSeqGene
- Range
-
4948..56336
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_158
mRNA and Protein(s)
-
NM_001024688.3 → NP_001019859.1 nibrin isoform 2
See identical proteins and their annotated locations for NP_001019859.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) has an additional exon in the 5' region, as compared to variant 1. This results in translation initiation from a downstream AUG codon and an isoform (2) with a shorter N-terminus compared to isoform 1.
- Source sequence(s)
-
AF069291, BC040519, BC136802, BX640816
- Consensus CDS
-
CCDS43753.1
- UniProtKB/TrEMBL
- A0A0C4DG07, A6H8Y5, A8K1D3, E5RGN7
- Related
- ENSP00000428252.2, ENST00000523444.2
- Conserved Domains (4) summary
-
- cd00027
Location:32 → 100
- 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 ...
- pfam08599
Location:601 → 663
- Nbs1_C; DNA damage repair protein Nbs1
- pfam16508
Location:135 → 243
- NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
- cl26761
Location:420 → 564
- MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
-
NM_002485.5 → NP_002476.2 nibrin isoform 1
See identical proteins and their annotated locations for NP_002476.2
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) encodes the longer isoform (1).
- Source sequence(s)
-
AF069291, BC040519, BC071590, BX640816
- Consensus CDS
-
CCDS6249.1
- UniProtKB/Swiss-Prot
- B2R626, B2RNC5, O60672, O60934, Q32NF7, Q53FM6, Q63HR6, Q7LDM2
- UniProtKB/TrEMBL
- A6H8Y5, A8K1D3
- Related
- ENSP00000265433.4, ENST00000265433.8
- Conserved Domains (4) summary
-
- cd00027
Location:114 → 182
- 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 ...
- cd00060
Location:1 → 109
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
- pfam08599
Location:683 → 745
- Nbs1_C; DNA damage repair protein Nbs1
- pfam16508
Location:216 → 325
- NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
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 GRCh38.p14 Primary Assembly
Genomic
-
NC_000008.11 Reference GRCh38.p14 Primary Assembly
- Range
-
89933331..89984667 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_024447163.2 → XP_024302931.1 nibrin isoform X1
- UniProtKB/TrEMBL
- A0A0C4DG07, A6H8Y5, A8K1D3, E5RGN7
- Related
- ENSP00000386924.1, ENST00000409330.5
- Conserved Domains (4) summary
-
- cd00027
Location:32 → 100
- 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 ...
- pfam08599
Location:601 → 663
- Nbs1_C; DNA damage repair protein Nbs1
- pfam16508
Location:135 → 243
- NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
- cl26761
Location:420 → 564
- MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
-
XM_011517045.2 → XP_011515347.1 nibrin isoform X1
See identical proteins and their annotated locations for XP_011515347.1
- UniProtKB/TrEMBL
- A0A0C4DG07, A6H8Y5, A8K1D3, E5RGN7
- Related
- ENSP00000429971.2, ENST00000517337.2
- Conserved Domains (4) summary
-
- cd00027
Location:32 → 100
- 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 ...
- pfam08599
Location:601 → 663
- Nbs1_C; DNA damage repair protein Nbs1
- pfam16508
Location:135 → 243
- NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
- cl26761
Location:420 → 564
- MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
-
XM_047421795.1 → XP_047277751.1 nibrin isoform X3
-
XM_011517046.2 → XP_011515348.1 nibrin isoform X2
- UniProtKB/TrEMBL
-
A0PJ71
- Conserved Domains (3) summary
-
- cd00027
Location:114 → 182
- 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 ...
- cd00060
Location:1 → 109
- FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
- pfam16508
Location:216 → 325
- NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
-
XM_047421796.1 → XP_047277752.1 nibrin isoform X4
Alternate T2T-CHM13v2.0
Genomic
-
NC_060932.1 Alternate T2T-CHM13v2.0
- Range
-
91056512..91107848 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054360508.1 → XP_054216483.1 nibrin isoform X1
- UniProtKB/TrEMBL
- A0A0C4DG07, A6H8Y5, A8K1D3, E5RGN7
-
XM_054360510.1 → XP_054216485.1 nibrin isoform X3
-
XM_054360509.1 → XP_054216484.1 nibrin isoform X2
- UniProtKB/TrEMBL
-
A0PJ71
-
XM_054360511.1 → XP_054216486.1 nibrin isoform X4