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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_011807.1 RefSeqGene
- Range
-
5001..33846
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_870
mRNA and Protein(s)
-
NM_001127487.2 → NP_001120959.1 filamin-C isoform b
See identical proteins and their annotated locations for NP_001120959.1
Status: REVIEWED
- 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)
-
AC025594
- Consensus CDS
-
CCDS47705.1
- UniProtKB/Swiss-Prot
-
Q14315
- UniProtKB/TrEMBL
-
Q59H94
- Related
- ENSP00000344002.6, ENST00000346177.6
- Conserved Domains (4) summary
-
- smart00033
Location:165 → 257
- CH; Calponin homology domain
- smart00557
Location:1443 → 1536
- IG_FLMN; Filamin-type immunoglobulin domains
- cd00014
Location:37 → 141
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- pfam00630
Location:1823 → 1910
- Filamin; Filamin/ABP280 repeat
-
NM_001458.5 → NP_001449.3 filamin-C isoform a
See identical proteins and their annotated locations for NP_001449.3
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
- Source sequence(s)
-
AC025594
- Consensus CDS
-
CCDS43644.1
- UniProtKB/Swiss-Prot
- B2ZZ88, O95303, Q07985, Q14315, Q9NS12, Q9NYE5, Q9UMR8, Q9Y503
- Related
- ENSP00000327145.8, ENST00000325888.13
- Conserved Domains (4) summary
-
- smart00033
Location:165 → 257
- CH; Calponin homology domain
- smart00557
Location:1443 → 1536
- IG_FLMN; Filamin-type immunoglobulin domains
- cd00014
Location:37 → 141
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- pfam00630
Location:1856 → 1943
- Filamin; Filamin/ABP280 repeat
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_000007.14 Reference GRCh38.p14 Primary Assembly
- Range
-
128830406..128859272
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060931.1 Alternate T2T-CHM13v2.0
- Range
-
130143333..130172198
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)