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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_007098.2 RefSeqGene
- Range
-
5001..869321
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_351
mRNA and Protein(s)
-
NM_015243.3 → NP_056058.2 intermembrane lipid transfer protein VPS13B isoform 3
See identical proteins and their annotated locations for NP_056058.2
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) includes an alternate exon, which results in an early stop codon, compared to variant 5. The resulting isoform (3) has a shorter and distinct C-terminus, compared to isoform 5.
- Source sequence(s)
-
AC105195, AY223817
- UniProtKB/Swiss-Prot
-
Q7Z7G8
- Related
-
ENST00000682853.1
- Conserved Domains (1) summary
-
- pfam12624
Location:3 → 94
- Chorein_N; N-terminal region of Chorein or VPS13
-
NM_017890.5 → NP_060360.3 intermembrane lipid transfer protein VPS13B isoform 5
See identical proteins and their annotated locations for NP_060360.3
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) encodes the longest isoform (5).
- Source sequence(s)
-
AC023933, AC026827, AC105195, AC105328, AY223814
- Consensus CDS
-
CCDS6280.1
- UniProtKB/Swiss-Prot
- C9JD30, Q709C6, Q709C7, Q7Z7G4, Q7Z7G5, Q7Z7G6, Q7Z7G7, Q7Z7G8, Q8NB77, Q9NWV1, Q9Y4E7
- UniProtKB/TrEMBL
-
A0A804HKG9
- Related
- ENSP00000351346.2, ENST00000358544.7
- Conserved Domains (4) summary
-
- pfam06650
Location:2632 → 2712
- SHR-BD; SHR-binding domain of vacuolar-sorting associated protein 13
- pfam09333
Location:3733 → 3839
- ATG_C; Autophagy-related protein C terminal domain
- pfam12624
Location:3 → 94
- Chorein_N; N-terminal region of Chorein or VPS13
- pfam16909
Location:3585 → 3731
- VPS13_C; Vacuolar-sorting-associated 13 protein C-terminal
-
NM_152564.5 → NP_689777.3 intermembrane lipid transfer protein VPS13B isoform 1
See identical proteins and their annotated locations for NP_689777.3
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) lacks one alternate in-frame exon and includes a different in-frame exon, compared to variant 5. The resulting isoform (1) is shorter and varies within this region of the protein, but has the same C- and N-termini, compared to isoform 5.
- Source sequence(s)
-
AC023933, AC105195, AC105328, AY223815
- Consensus CDS
-
CCDS6281.1
- UniProtKB/TrEMBL
-
A0A804HKG9
- Related
- ENSP00000349685.2, ENST00000357162.7
- Conserved Domains (4) summary
-
- pfam06650
Location:2607 → 2687
- SHR-BD; SHR-binding domain of vacuolar-sorting associated protein 13
- pfam09333
Location:3708 → 3814
- ATG_C; Autophagy-related protein C terminal domain
- pfam12624
Location:3 → 94
- Chorein_N; N-terminal region of Chorein or VPS13
- pfam16909
Location:3560 → 3706
- VPS13_C; Vacuolar-sorting-associated 13 protein C-terminal
-
NM_181661.3 → NP_858047.2 intermembrane lipid transfer protein VPS13B isoform 4
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) uses an alternate splice site in the coding region, which results in introduction of a stop codon, compared to variant 5. The resulting isoform (4) has a shorter and distinct C-terminus, compared to isoform 5.
- Source sequence(s)
-
AC107909, AY223818
- Consensus CDS
-
CCDS47903.1
- UniProtKB/TrEMBL
-
Q53G09
- Related
- ENSP00000398472.2, ENST00000441350.2
- Conserved Domains (1) summary
-
- pfam12624
Location:3 → 94
- Chorein_N; N-terminal region of Chorein or VPS13
RNA
-
NR_047582.2 RNA Sequence
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) has multiple differences compared to variant 5. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
AC104986, AC107909, BC144379
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
-
99013274..99877580
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060932.1 Alternate T2T-CHM13v2.0
- Range
-
100138009..101002539
- 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_184042.1: Suppressed sequence
- Description
- NM_184042.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.