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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_007272.1 RefSeqGene
- Range
-
4957..103091
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_20
mRNA and Protein(s)
-
NM_000057.4 → NP_000048.1 recQ-like DNA helicase BLM isoform 1
See identical proteins and their annotated locations for NP_000048.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.
- Source sequence(s)
-
AC124248, BC034480, BC062697, BC115030, CD707743, U39817
- Consensus CDS
-
CCDS10363.1
- UniProtKB/Swiss-Prot
- P54132, Q52M96
- UniProtKB/TrEMBL
-
B2RAN0
- Related
- ENSP00000347232.3, ENST00000355112.8
- Conserved Domains (9) summary
-
- smart00341
Location:1213 → 1292
- HRDC; Helicase and RNase D C-terminal
- TIGR00614
Location:657 → 1143
- recQ_fam; ATP-dependent DNA helicase, RecQ family
- cd00079
Location:861 → 992
- HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
- pfam00270
Location:669 → 841
- DEAD; DEAD/DEAH box helicase
- pfam08072
Location:372 → 409
- BDHCT; BDHCT (NUC031) domain
- pfam09382
Location:1072 → 1189
- RQC; RQC domain
- pfam16124
Location:997 → 1066
- RecQ_Zn_bind; RecQ zinc-binding
- pfam16202
Location:1 → 366
- BLM_N; N-terminal region of Bloom syndrome protein
- pfam16204
Location:425 → 647
- BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
-
NM_001287246.2 → NP_001274175.1 recQ-like DNA helicase BLM isoform 1
See identical proteins and their annotated locations for NP_001274175.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
- Source sequence(s)
-
AC124248, BC115032, BC143288, BP363946, CD707743, DB520927
- Consensus CDS
-
CCDS10363.1
- UniProtKB/Swiss-Prot
- P54132, Q52M96
- UniProtKB/TrEMBL
-
B2RAN0
- Related
- ENSP00000506117.1, ENST00000680772.1
- Conserved Domains (9) summary
-
- smart00341
Location:1213 → 1292
- HRDC; Helicase and RNase D C-terminal
- TIGR00614
Location:657 → 1143
- recQ_fam; ATP-dependent DNA helicase, RecQ family
- cd00079
Location:861 → 992
- HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
- pfam00270
Location:669 → 841
- DEAD; DEAD/DEAH box helicase
- pfam08072
Location:372 → 409
- BDHCT; BDHCT (NUC031) domain
- pfam09382
Location:1072 → 1189
- RQC; RQC domain
- pfam16124
Location:997 → 1066
- RecQ_Zn_bind; RecQ zinc-binding
- pfam16202
Location:1 → 366
- BLM_N; N-terminal region of Bloom syndrome protein
- pfam16204
Location:425 → 647
- BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
-
NM_001287247.2 → NP_001274176.1 recQ-like DNA helicase BLM isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
- Source sequence(s)
-
AC124248, BC062697, BC101567, BC115028, CD707743, DB520927
- Consensus CDS
-
CCDS73782.1
- UniProtKB/TrEMBL
- B2RAN0, H0YNU5
- Related
- ENSP00000454158.1, ENST00000560509.5
- Conserved Domains (5) summary
-
- TIGR00614
Location:657 → 1123
- recQ_fam; ATP-dependent DNA helicase, RecQ family
- pfam08072
Location:372 → 411
- BDHCT; BDHCT (NUC031) domain
- pfam16202
Location:1 → 368
- BLM_N; N-terminal region of Bloom syndrome protein
- pfam16204
Location:425 → 647
- BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
- cl02578
Location:1109 → 1161
- HRDC; HRDC domain
-
NM_001287248.2 → NP_001274177.1 recQ-like DNA helicase BLM isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) uses an alternate splice site in a 5' exon and uses a downstream translation start compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
- Source sequence(s)
-
AC021422, AC124248, BC062697, BC115032, BC143280, CD707743, DA122319, DB520927
- UniProtKB/TrEMBL
-
B7ZKN7
- Conserved Domains (4) summary
-
- smart00341
Location:838 → 917
- HRDC; Helicase and RNase D C-terminal
- TIGR00614
Location:282 → 768
- recQ_fam; ATP-dependent DNA helicase, RecQ family
- pfam08072
Location:1 → 36
- BDHCT; BDHCT (NUC031) domain
- pfam16204
Location:50 → 272
- BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome 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_000015.10 Reference GRCh38.p14 Primary Assembly
- Range
-
90717346..90816166
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_011521882.4 → XP_011520184.1 recQ-like DNA helicase BLM isoform X2
- Conserved Domains (4) summary
-
- pfam00270
Location:669 → 841
- DEAD; DEAD/DEAH box helicase
- pfam08072
Location:372 → 409
- BDHCT; BDHCT (NUC031) domain
- pfam16202
Location:1 → 366
- BLM_N; N-terminal region of Bloom syndrome protein
- pfam16204
Location:425 → 647
- BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
-
XM_047432934.1 → XP_047288890.1 recQ-like DNA helicase BLM isoform X1
- UniProtKB/TrEMBL
-
B7ZKN7
-
XM_006720632.3 → XP_006720695.1 recQ-like DNA helicase BLM isoform X3
- Conserved Domains (6) summary
-
- smart00341
Location:559 → 638
- HRDC; Helicase and RNase D C-terminal
- TIGR00614
Location:3 → 489
- recQ_fam; ATP-dependent DNA helicase, RecQ family
- cd00079
Location:207 → 338
- HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
- pfam00270
Location:15 → 187
- DEAD; DEAD/DEAH box helicase
- pfam09382
Location:418 → 535
- RQC; RQC domain
- pfam16124
Location:343 → 412
- RecQ_Zn_bind; RecQ zinc-binding
Alternate T2T-CHM13v2.0
Genomic
-
NC_060939.1 Alternate T2T-CHM13v2.0
- Range
-
88475676..88575539
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054378602.1 → XP_054234577.1 recQ-like DNA helicase BLM isoform X2
-
XM_054378601.1 → XP_054234576.1 recQ-like DNA helicase BLM isoform X1
- UniProtKB/TrEMBL
-
B7ZKN7
-
XM_054378603.1 → XP_054234578.1 recQ-like DNA helicase BLM isoform X3