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_007529.1 RefSeqGene
- Range
- 4961..44139
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001185075.1 → NP_001172004.1 fragile X mental retardation protein 1 isoform ISO6
Status: REVIEWED
- Description
- Transcript Variant: This variant (ISO6) lacks an alternate segment and uses a different splice site in the 3' coding region which shifts the reading frame, compared to variant ISO1. The resulting protein (isoform ISO6) has a shorter and distinct C-terminus when it is compared to isoform ISO1.
- Source sequence(s)
-
BC086957, BQ213316, BX498094, CK825936, L29074
- Consensus CDS
-
CCDS55518.1
- UniProtKB/TrEMBL
-
G8JLE9
- UniProtKB/Swiss-Prot
-
Q06787
- Related
- ENSP00000359502, ENST00000370471
- Conserved Domains (2) summary
-
- cl00098
Location:283 – 326
Blast Score: 104
- KH-II; KH-II (K homology RNA-binding domain, type II). KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins (e.g. ribosomal protein S3), transcription factors (e.g. NusA_K), and post-transcriptional ...
- cl15261
Location:59 – 117
Blast Score: 113
- CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
-
NM_001185076.1 → NP_001172005.1 fragile X mental retardation protein 1 isoform ISO7
Status: REVIEWED
- Description
- Transcript Variant: This variant (ISO7) lacks an alternate segment, compared to variant ISO1. The resulting protein (isoform ISO7) is shorter when it is compared to isoform ISO1.
- Source sequence(s)
-
BC086957, BQ213316, BQ417290, CN315330, CX871385, L29074
- Consensus CDS
-
CCDS55519.1
- UniProtKB/TrEMBL
-
G8JL90
- UniProtKB/Swiss-Prot
-
Q06787
- Related
- ENSP00000218200, ENST00000218200
- Conserved Domains (4) summary
-
- cd00105
Location:286 – 332
Blast Score: 99
- KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
- pfam12235
Location:406 – 460
Blast Score: 199
- FXR1P_C; Fragile X-related 1 protein C terminal
- cl00098
Location:221 – 276
Blast Score: 96
- KH-II; KH-II (K homology RNA-binding domain, type II). KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins (e.g. ribosomal protein S3), transcription factors (e.g. NusA_K), and post-transcriptional ...
- cl15261
Location:59 – 117
Blast Score: 114
- CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
-
NM_001185081.1 → NP_001172010.1 fragile X mental retardation protein 1 isoform ISO12
Status: REVIEWED
- Description
- Transcript Variant: This variant (ISO12) lacks two alternate segments and uses a different splice site which changes the reading frame, compared to variant ISO1. The resulting protein (isoform ISO12) has a shorter and distinct C-terminus when it is compared to isoform ISO1.
- Source sequence(s)
-
BC086957, BQ213316, BQ287827, CK825936, L29074
- UniProtKB/Swiss-Prot
-
Q06787
- Conserved Domains (2) summary
-
- cl00098
Location:283 – 326
Blast Score: 103
- KH-II; KH-II (K homology RNA-binding domain, type II). KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins (e.g. ribosomal protein S3), transcription factors (e.g. NusA_K), and post-transcriptional ...
- cl15261
Location:59 – 117
Blast Score: 114
- CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
-
NM_001185082.1 → NP_001172011.1 fragile X mental retardation protein 1 isoform ISO9
Status: REVIEWED
- Description
- Transcript Variant: This variant (ISO9) lacks an alternate segment and uses a different splice site in the 3' coding region, compared to variant ISO1. The resulting protein (isoform ISO9) is shorter when it is compared to isoform ISO1.
- Source sequence(s)
-
BC086957, L29074
- UniProtKB/Swiss-Prot
-
Q06787
- Conserved Domains (3) summary
-
- pfam12235
Location:406 – 531
Blast Score: 212
- FXR1P_C; Fragile X-related 1 protein C terminal
- cl00098
Location:283 – 326
Blast Score: 108
- KH-II; KH-II (K homology RNA-binding domain, type II). KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins (e.g. ribosomal protein S3), transcription factors (e.g. NusA_K), and post-transcriptional ...
- cl15261
Location:59 – 117
Blast Score: 114
- CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
-
NM_002024.5 → NP_002015.1 fragile X mental retardation protein 1 isoform ISO1
Status: REVIEWED
- Description
- Transcript Variant: This variant (ISO1) represents the longest transcript and it encodes the longest protein (isoform ISO1).
- Source sequence(s)
-
BC086957, L29074, X69962
- Consensus CDS
-
CCDS14682.1
- UniProtKB/Swiss-Prot
-
Q06787
- Related
- ENSP00000359506, OTTHUMP00000024197, ENST00000370475, OTTHUMT00000058655
- Conserved Domains (4) summary
-
- cd00105
Location:286 – 332
Blast Score: 99
- KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
- pfam12235
Location:427 – 481
Blast Score: 200
- FXR1P_C; Fragile X-related 1 protein C terminal
- cl00098
Location:221 – 276
Blast Score: 96
- KH-II; KH-II (K homology RNA-binding domain, type II). KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins (e.g. ribosomal protein S3), transcription factors (e.g. NusA_K), and post-transcriptional ...
- cl15261
Location:59 – 117
Blast Score: 114
- CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
RNA
-
NR_033699.1 RNA Sequence
- Description
- Transcript Variant: This variant (ISO4) lacks an alternate segment, compared to variant ISO1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant ISO1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
BC086957, BQ213316, BX498094, CK825936, L29074
-
NR_033700.1 RNA Sequence
- Description
- Transcript Variant: This variant (ISO10) lacks two alternate segments, compared to variant ISO1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant ISO1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
BC086957, BQ213316, CK825936, L29074
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_000023.10 Reference GRCh37.p5 Primary Assembly
- Range
- 146993469..147032647
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000155.1 Alternate HuRef
- Range
- 135963879..135993282
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)