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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_033901.1 RefSeqGene
- Range
-
5503..43436
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_1149
mRNA and Protein(s)
-
NM_001283009.2 → NP_001269938.1 regulator of telomere elongation helicase 1 isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) represents the longest transcript and encodes the longest protein (isoform 3).
- Source sequence(s)
-
AF217795, AW005229, JX119186
- Consensus CDS
-
CCDS63331.1
- UniProtKB/TrEMBL
-
R4IXY3
- Related
- ENSP00000353332.5, ENST00000360203.11
- Conserved Domains (3) summary
-
- PRK07764
Location:989 → 1240
- PRK07764; DNA polymerase III subunits gamma and tau; Validated
- cd13932
Location:877 → 976
- HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
- TIGR00604
Location:10 → 743
- rad3; DNA repair helicase (rad3)
-
NM_001283010.1 → NP_001269939.1 regulator of telomere elongation helicase 1 isoform 4
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences include translation initiation at a downstream AUG and a translational frameshift. The resulting protein (isoform 4) has a shorter N-terminus and distinct C-terminus, compared to isoform 3.
- Source sequence(s)
-
AF217795, AK304798, AW005229
- Consensus CDS
-
CCDS74751.1
- UniProtKB/Swiss-Prot
-
Q9NZ71
- Related
- ENSP00000322287.5, ENST00000318100.9
- Conserved Domains (4) summary
-
- cd13932
Location:654 → 753
- HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
- TIGR00604
Location:2 → 520
- rad3; DNA repair helicase (rad3)
- pfam13307
Location:322 → 508
- Helicase_C_2; Helicase C-terminal domain
- cl21455
Location:1 → 49
- P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
-
NM_016434.4 → NP_057518.1 regulator of telomere elongation helicase 1 isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region that results in a translational frameshift, compared to variant 3. The resulting protein (isoform 1) has a distinct C-terminus and is shorter than isoform 3.
- Source sequence(s)
-
AF217795, AL353715
- Consensus CDS
-
CCDS13531.1
- UniProtKB/Swiss-Prot
- A2A397, A2A398, B4DRM5, B4DYM3, B4E3N6, E1P5J4, E1P5J5, Q5JTV3, Q5JTV4, Q9BW37, Q9H402, Q9H4X6, Q9NX25, Q9NZ71, Q9NZ73, Q9UPR4, Q9Y4R6
- UniProtKB/TrEMBL
-
R4IXY3
- Related
- ENSP00000359035.3, ENST00000370018.7
- Conserved Domains (5) summary
-
- cd13932
Location:877 → 976
- HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
- TIGR00604
Location:10 → 743
- rad3; DNA repair helicase (rad3)
- pfam06733
Location:111 → 272
- DEAD_2; DEAD_2
- pfam13307
Location:545 → 731
- Helicase_C_2; Helicase C-terminal domain
- cl21455
Location:15 → 60
- P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
-
NM_032957.5 → NP_116575.3 regulator of telomere elongation helicase 1 isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 3, one of which results in a translational frameshift. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 3.
- Source sequence(s)
-
AF217795, AK302508, AL353715
- Consensus CDS
-
CCDS13530.3
- UniProtKB/TrEMBL
-
R4IXY3
- Related
- ENSP00000424307.2, ENST00000508582.7
- Conserved Domains (5) summary
-
- cd13932
Location:901 → 1000
- HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
- TIGR00604
Location:10 → 767
- rad3; DNA repair helicase (rad3)
- pfam06733
Location:111 → 296
- DEAD_2; DEAD_2
- pfam13307
Location:569 → 755
- Helicase_C_2; Helicase C-terminal domain
- cl21455
Location:15 → 60
- P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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_000020.11 Reference GRCh38.p14 Primary Assembly
- Range
-
63657810..63696253
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060944.1 Alternate T2T-CHM13v2.0
- Range
-
65471931..65516559
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
The following Reference Sequences have been suppressed. Explain
These RefSeqs were suppressed for the
cited reason(s). Suppressed RefSeqs do not appear in BLAST databases, related
sequence links, or BLAST links (BLink), but may still be retrieved by clicking on
their accession.version below.
-
NM_015647.2: Suppressed sequence
- Description
- NM_015647.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.