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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_041943.1 RefSeqGene
- Range
-
5197..113322
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001002909.4 → NP_001002909.1 G patch domain-containing protein 8 isoform 1
See identical proteins and their annotated locations for NP_001002909.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) encodes the longest isoform (1).
- Source sequence(s)
-
AK025600, BC024147, BC136629, HY048299
- Consensus CDS
-
CCDS32666.1
- UniProtKB/Swiss-Prot
- B9EGP9, O60300, Q8TB99, Q9UKJ3
- Related
- ENSP00000467556.1, ENST00000591680.6
- Conserved Domains (3) summary
-
- pfam01585
Location:40 → 82
- G-patch; G-patch domain
- pfam12171
Location:136 → 163
- zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
- cl02488
Location:94 → 206
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_001304939.2 → NP_001291868.1 G patch domain-containing protein 8 isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
- Source sequence(s)
-
BC024147, BC136629, CN388519, HY048299
- UniProtKB/Swiss-Prot
-
Q9UKJ3
- Related
-
ENST00000335500.8
- Conserved Domains (3) summary
-
- pfam01585
Location:16 → 57
- G-patch; G-patch domain
- pfam12171
Location:111 → 138
- zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
- cl02488
Location:69 → 181
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_001304940.2 → NP_001291869.1 G patch domain-containing protein 8 isoform 3
See identical proteins and their annotated locations for NP_001291869.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) contains two alternate exons in the 5' region compared to variant 1. This variant represents translation initiation at an in-frame downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
- Source sequence(s)
-
AK025600, BC024147, BC136629, DA736259, HY048299
- UniProtKB/Swiss-Prot
-
Q9UKJ3
- Conserved Domains (2) summary
-
- pfam12171
Location:58 → 85
- zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
- cl02488
Location:16 → 128
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_001304941.2 → NP_001291870.1 G patch domain-containing protein 8 isoform 3
See identical proteins and their annotated locations for NP_001291870.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) contains an alternate exon in the 5' region compared to variant 1. This variant represents translation initiation at an in-frame downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
- Source sequence(s)
-
BC024147, BC136629, HY048299
- UniProtKB/Swiss-Prot
-
Q9UKJ3
- Conserved Domains (2) summary
-
- pfam12171
Location:58 → 85
- zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
- cl02488
Location:16 → 128
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_001304942.2 → NP_001291871.1 G patch domain-containing protein 8 isoform 3
See identical proteins and their annotated locations for NP_001291871.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) lacks an alternate 5' exon compared to variant 1. This variant represents translation initiation at an in-frame downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
- Source sequence(s)
-
BC024147, BC136629, CN388517, HY048299
- UniProtKB/Swiss-Prot
-
Q9UKJ3
- Conserved Domains (2) summary
-
- pfam12171
Location:58 → 85
- zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
- cl02488
Location:16 → 128
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_001304943.2 → NP_001291872.1 G patch domain-containing protein 8 isoform 3
See identical proteins and their annotated locations for NP_001291872.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) lacks several exons in the 5' coding region, its 5' terminal exon extends upstream of a splice site that is used in variant 1, and it represents use of an alternate promoter. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1.The encoded isoform (3) is shorter than isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
- Source sequence(s)
-
AK025600, BC024147, BC136629, BM722954
- UniProtKB/Swiss-Prot
-
Q9UKJ3
- Conserved Domains (2) summary
-
- pfam12171
Location:58 → 85
- zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
- cl02488
Location:16 → 128
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...