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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_009442.1 RefSeqGene
- Range
-
4979..89622
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_465
mRNA and Protein(s)
-
NM_000124.4 → NP_000115.1 DNA excision repair protein ERCC-6 isoform 2
See identical proteins and their annotated locations for NP_000115.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) represents the longest transcript and encodes the longer protein (isoform 2).
- Source sequence(s)
-
AB209504, AC073366, AL138760, DA457690, L04791
- Consensus CDS
-
CCDS7229.1
- UniProtKB/Swiss-Prot
- D3DX94, E7EV46, Q03468, Q5W0L9
- UniProtKB/TrEMBL
-
A0JP10
- Related
- ENSP00000348089.5, ENST00000355832.10
- Conserved Domains (3) summary
-
- COG0553
Location:459 → 1007
- HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
- cd18000
Location:507 → 694
- DEXHc_ERCC6; DEXH-box helicase domain of ERCC6
- cd21397
Location:83 → 159
- cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins
-
NM_001277058.2 → NP_001263987.1 ERCC6-PGBD3 fusion protein isoform 1
See identical proteins and their annotated locations for NP_001263987.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) contains an alternate 3' terminal exon, compared to variant 3. It is generated as a result of splicing of ERCC6 exon 5 to the 3' splice site upstream of the PGBD3 ORF that activates the alternative polyadenylation site downstream of the PGBD3 ORF. The resulting protein (isoform 1, ERCC6-PGBD3 fusion protein) is shorter and has a distinct C-terminus, compared to isoform 2.
- Source sequence(s)
-
AC073366, AK291018, AL138760
- Consensus CDS
-
CCDS60529.1
- UniProtKB/Swiss-Prot
-
P0DP91
- UniProtKB/TrEMBL
-
A8K4Q3
- Related
- ENSP00000387966.2, ENST00000447839.7
- Conserved Domains (3) summary
-
- pfam13843
Location:609 → 967
- DDE_Tnp_1_7; Transposase IS4
- cd21397
Location:83 → 159
- cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins
- cl00040
Location:1019 → 1055
- C1; protein kinase C conserved region 1 (C1 domain) superfamily
-
NM_001277059.2 → NP_001263988.1 ERCC6-PGBD3 fusion protein isoform 1
See identical proteins and their annotated locations for NP_001263988.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate 3' terminal exon, compared to variant 3. It is generated as a result of splicing of ERCC6 exon 5 to the 3' splice site upstream of the PGBD3 ORF that activates the alternative polyadenylation site downstream of the PGBD3 ORF. The resulting protein (isoform 1, ERCC6-PGBD3 fusion protein) is shorter and has a distinct C-terminus, compared to isoform 2.
- Source sequence(s)
-
AK291018, AL138760, BC034479
- Consensus CDS
-
CCDS60529.1
- UniProtKB/Swiss-Prot
-
P0DP91
- UniProtKB/TrEMBL
-
A8K4Q3
- Related
- ENSP00000423550.1, ENST00000515869.1
- Conserved Domains (3) summary
-
- pfam13843
Location:609 → 967
- DDE_Tnp_1_7; Transposase IS4
- cd21397
Location:83 → 159
- cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins
- cl00040
Location:1019 → 1055
- C1; protein kinase C conserved region 1 (C1 domain) superfamily
-
NM_001346440.2 → NP_001333369.1 DNA excision repair protein ERCC-6 isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (4 ) uses an alternate splice site in the 5' UTR, compared to variant 3, and encodes isoform 2. Variants 3 and 4 encode the same protein (isoform 2).
- Source sequence(s)
-
AC073366, AL138760, DA457690, L04791
- Consensus CDS
-
CCDS7229.1
- UniProtKB/Swiss-Prot
- D3DX94, E7EV46, Q03468, Q5W0L9
- UniProtKB/TrEMBL
-
A0JP10
- Conserved Domains (3) summary
-
- COG0553
Location:459 → 1007
- HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
- cd18000
Location:507 → 694
- DEXHc_ERCC6; DEXH-box helicase domain of ERCC6
- cd21397
Location:83 → 159
- cc_ERCC-6_N; coiled-coil domain located near the N-terminus of human Excision Repair Cross Complementing 6 (ERCC-6) and related proteins
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_000010.11 Reference GRCh38.p14 Primary Assembly
- Range
-
49434881..49539538 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060934.1 Alternate T2T-CHM13v2.0
- Range
-
50283667..50388257 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)