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.
mRNA and Protein(s)
-
NM_001128617.1 → NP_001122089.1 ralBP1-associated Eps domain-containing protein 1 isoform b
Status: VALIDATED
- Description
- Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
- Source sequence(s)
-
AL121834, AL832307, BC012764
- Consensus CDS
-
CCDS47488.1
- UniProtKB/Swiss-Prot
-
Q96D71
- Related
- ENSP00000356635, OTTHUMP00000017308, ENST00000367663, OTTHUMT00000042451
- Conserved Domains (3) summary
-
- cd00052
Location:289 – 355
Blast Score: 220
- EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
- smart00027
Location:278 – 369
Blast Score: 285
- EH; Eps15 homology domain
- cl08302
Location:14 – 81
Blast Score: 99
- EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
-
NM_031922.3 → NP_114128.3 ralBP1-associated Eps domain-containing protein 1 isoform a
Status: VALIDATED
- Description
- Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
- Source sequence(s)
-
AL121834, BC012764
- Consensus CDS
-
CCDS5193.2
- UniProtKB/Swiss-Prot
-
Q96D71
- Related
- ENSP00000258062, OTTHUMP00000017307, ENST00000258062, OTTHUMT00000042449
- Conserved Domains (3) summary
-
- cd00052
Location:289 – 355
Blast Score: 220
- EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
- smart00027
Location:278 – 369
Blast Score: 284
- EH; Eps15 homology domain
- cl08302
Location:14 – 81
Blast Score: 99
- EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
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 GRCh37.p5 Primary Assembly
Genomic
-
NC_000006.11 Reference GRCh37.p5 Primary Assembly
- Range
- 139225620..139309398, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000138.1 Alternate HuRef
- Range
- 136787266..136871047, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)