RefSeqs maintained independently of Annotated Genomes
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_029367.1 RefSeqGene
- Range
- 5001..46742
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001204171.1 → NP_001191100.1 protein Mdm4 isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment in the 3' coding region compared to isoform 1.
- Source sequence(s)
-
AB209383, AK097188, AL512306, BC105106, BP247507, BP334671, BX108199
- Consensus CDS
-
CCDS55674.1
- UniProtKB/TrEMBL
-
Q2M2Y2
- UniProtKB/TrEMBL
-
Q59FS6
- Related
- ENSP00000396840, ENST00000454264
- Conserved Domains (3) summary
-
- cl02489
Location:26 – 101
Blast Score: 163
- SWIB; SWIB/MDM2 domain
- cl02656
Location:254 – 279
Blast Score: 98
- zf-RanBP; Zn-finger in Ran binding protein and others
- cl15348
Location:387 – 432
Blast Score: 100
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
-
NM_001204172.1 → NP_001191101.1 protein Mdm4 isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) is missing 8 consecutive coding exons, and uses an alternate acceptor splice site at the 3' terminal exon compared to variant 1. However, it maintains the reading frame, and encodes a very short isoform (3, also known as HDMX211) that lacks the N-terminal p53 binding domain, but retains the ring finger domain at the C-terminus. This isoform has been shown to bind and stabilize oncoprotein HDM2, and also indirectly stabilize p53 protein by counteracting its degradation by HDM2. Screening of lung cancer biopsies shows the presence of this isoform in samples that overexpress HDM2 protein, supporting a pathologic role for this protein (PMID:16266988).
- Source sequence(s)
-
AB209383, AK097188, AL512306, AY923176, BP247507, BP334671, BX108199
- Consensus CDS
-
CCDS55675.1
- UniProtKB/TrEMBL
-
Q32SL2
- UniProtKB/TrEMBL
-
Q59FS6
- Related
- ENSP00000356151, ENST00000367183
- Conserved Domains (1) summary
-
- cl15348
Location:111 – 156
Blast Score: 87
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
-
NM_002393.4 → NP_002384.2 protein Mdm4 isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longest isoform (1, also known as HDMX).
- Source sequence(s)
-
AB209383, AK097188, AL512306, BC067299, BP247507, BP334671, BX108199
- Consensus CDS
-
CCDS1447.1
- UniProtKB/Swiss-Prot
-
O15151
- UniProtKB/TrEMBL
-
Q59FS6
- Related
- ENSP00000356150, OTTHUMP00000034072, ENST00000367182, OTTHUMT00000087415
- Conserved Domains (3) summary
-
- cl02489
Location:26 – 101
Blast Score: 165
- SWIB; SWIB/MDM2 domain
- cl02656
Location:304 – 329
Blast Score: 100
- zf-RanBP; Zn-finger in Ran binding protein and others
- cl15348
Location:437 – 482
Blast Score: 104
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
RNA
-
NR_024171.2 RNA Sequence
- Description
- Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. This causes a frame-shift, and premature translation termination, rendering this transcript a candidate for nonsense-mediated decay (NMD).
- Source sequence(s)
-
AB209383, AK097188, AL512306, BC143431, BP247507, BP334671, BX108199
RefSeqs of Annotated Genomes: Build 37.3
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_000001.10 Reference GRCh37.p5 Primary Assembly
- Range
- 204485507..204527248
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000133.1 Alternate HuRef
- Range
- 175650570..175692491
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)