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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.
mRNA and Protein(s)
-
NM_001297624.2 → NP_001284553.1 zinc finger protein 480 isoform 2
Status: VALIDATED
- Description
- Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
- Source sequence(s)
-
AC010320, AK303271, AL832560, DA501214
- Consensus CDS
-
CCDS77346.1
- UniProtKB/TrEMBL
-
F8WEZ9
- Related
- ENSP00000334164.6, ENST00000334564.11
- Conserved Domains (6) summary
-
- smart00349
Location:27 → 67
- KRAB; krueppel associated box
- COG5048
Location:115 → 458
- COG5048; FOG: Zn-finger [General function prediction only]
- sd00017
Location:302 → 322
- ZF_C2H2; C2H2 Zn finger [structural motif]
- pfam00096
Location:356 → 378
- zf-C2H2; Zinc finger, C2H2 type
- pfam01352
Location:27 → 66
- KRAB; KRAB box
- pfam13465
Location:454 → 479
- zf-H2C2_2; Zinc-finger double domain
-
NM_001297625.2 → NP_001284554.1 zinc finger protein 480 isoform 3
Status: VALIDATED
- Description
- Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus, compared to isoform 1.
- Source sequence(s)
-
AC010320, AK096442, AL832560, DA501214
- Consensus CDS
-
CCDS74437.1
- UniProtKB/Swiss-Prot
-
Q8WV37
- Related
- ENSP00000335670.6, ENST00000335090.6
- Conserved Domains (4) summary
-
- COG5048
Location:81 → 424
- COG5048; FOG: Zn-finger [General function prediction only]
- sd00017
Location:268 → 288
- ZF_C2H2; C2H2 Zn finger [structural motif]
- pfam00096
Location:322 → 344
- zf-C2H2; Zinc finger, C2H2 type
- pfam13465
Location:420 → 445
- zf-H2C2_2; Zinc-finger double domain
-
NM_001412109.1 → NP_001399038.1 zinc finger protein 480 isoform 4
Status: VALIDATED
- Description
- Transcript Variant: This variant (4) represents an alternate allele of this gene in several human genome assemblies including T2T-CHM13v2.0. It includes a 'TG' deletion (rs3217319) compared to GRCh38, resulting in the use of a downstream start codon. The encoded protein (isoform 4) has a shorter N-terminus compared to isoform 1.
- Source sequence(s)
-
CP068259
-
NM_144684.4 → NP_653285.2 zinc finger protein 480 isoform 1
Status: VALIDATED
- Description
- Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein.
- Source sequence(s)
-
AC010320, AK096442, AK303271, AL832560, AY512662, DA501214
- Consensus CDS
-
CCDS12850.2
- UniProtKB/Swiss-Prot
- Q5JPG9, Q6P0Q4, Q8N1M5, Q8WV37
- Related
- ENSP00000471754.1, ENST00000595962.6
- Conserved Domains (6) summary
-
- smart00349
Location:27 → 87
- KRAB; krueppel associated box
- COG5048
Location:158 → 501
- COG5048; FOG: Zn-finger [General function prediction only]
- sd00017
Location:345 → 365
- ZF_C2H2; C2H2 Zn finger [structural motif]
- pfam00096
Location:399 → 421
- zf-C2H2; Zinc finger, C2H2 type
- pfam01352
Location:27 → 66
- KRAB; KRAB box
- pfam13465
Location:497 → 522
- zf-H2C2_2; Zinc-finger double domain
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_000019.10 Reference GRCh38.p14 Primary Assembly
- Range
-
52297169..52325922
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060943.1 Alternate T2T-CHM13v2.0
- Range
-
55384358..55413117
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)