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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_008877.1Â RefSeqGene
- Range
-
5001..48505
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_586
mRNA and Protein(s)
-
NM_007216.4 → NP_009147.3  BLOC-2 complex member HPS5 isoform b
See identical proteins and their annotated locations for NP_009147.3
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) with a shorter N-terminus compared to isoform a.
- Source sequence(s)
-
AC084117, AC107948
- Consensus CDS
-
CCDS7837.1
- UniProtKB/Swiss-Prot
-
Q9UPZ3
- Related
- ENSP00000379552.3, ENST00000396253.7
-
NM_181507.2 → NP_852608.1  BLOC-2 complex member HPS5 isoform a
See identical proteins and their annotated locations for NP_852608.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript, and encodes the longer isoform (a).
- Source sequence(s)
-
AC084117, AC107948
- Consensus CDS
-
CCDS7836.1
- UniProtKB/Swiss-Prot
- Q8N4U0, Q9UPZ3
- Related
- ENSP00000265967.5, ENST00000349215.8
- Conserved Domains (1) summary
-
- sd00039
Location:37 → 75
- 7WD40; WD40 repeat [structural motif]
-
NM_181508.1 → NP_852609.1  BLOC-2 complex member HPS5 isoform b
See identical proteins and their annotated locations for NP_852609.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) with a shorter N-terminus compared to isoform a.
- Source sequence(s)
-
AA886415, AF534400
- Consensus CDS
-
CCDS7837.1
- UniProtKB/Swiss-Prot
-
Q9UPZ3
- Related
- ENSP00000399590.2, ENST00000438420.6