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.
-
NM_001164750.2 → NP_001158222.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus, compared to isoform a. This isoform includes the beta-hydroxylase domain found in isoform a and is likely to have catalytic activity.
- Source sequence(s)
-
AC090094, AF339775, AK304314, BC025236, DN993915, S83325
- Consensus CDS
-
CCDS55234.1
- UniProtKB/Swiss-Prot
-
Q12797
- Related
- ENSP00000437864.1, ENST00000541428.5
- Conserved Domains (5) summary
-
- TIGR02795
Location:313 → 426
- tol_pal_ybgF; tol-pal system protein YbgF
- pfam05279
Location:14 → 281
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
- sd00006
Location:429 → 453
- TPR; TPR repeat [structural motif]
- pfam05118
Location:562 → 715
- Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
- pfam13428
Location:316 → 355
- TPR_14; Tetratricopeptide repeat
-
NM_001164751.2 → NP_001158223.1 aspartyl/asparaginyl beta-hydroxylase isoform 7
See identical proteins and their annotated locations for NP_001158223.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (7) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (g) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
- Source sequence(s)
-
AC067881, BC144362, BU623111, DN993915
- Consensus CDS
-
CCDS55236.1
- UniProtKB/TrEMBL
-
E5RG56
- Related
- ENSP00000430245.1, ENST00000517903.5
- Conserved Domains (1) summary
-
- pfam05279
Location:14 → 295
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_001164752.2 → NP_001158224.1 aspartyl/asparaginyl beta-hydroxylase isoform 8
See identical proteins and their annotated locations for NP_001158224.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (8) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, lacks an alternate in-frame exon, and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (h) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
- Source sequence(s)
-
AC067881, BC144363, BU623111, DN993915
- UniProtKB/TrEMBL
- B4DQ07, B7ZM96
- Conserved Domains (1) summary
-
- pfam05279
Location:14 → 276
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_001164753.2 → NP_001158225.1 aspartyl/asparaginyl beta-hydroxylase isoform 9
See identical proteins and their annotated locations for NP_001158225.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (9) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (i) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
- Source sequence(s)
-
AC067881, AK295528, BU623111, DN993915
- Consensus CDS
-
CCDS55235.1
- UniProtKB/Swiss-Prot
-
Q12797
- Related
- ENSP00000429160.1, ENST00000522835.5
- Conserved Domains (1) summary
-
- pfam05279
Location:14 → 253
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_001164754.2 → NP_001158226.1 aspartyl/asparaginyl beta-hydroxylase isoform 10
Status: REVIEWED
- Description
- Transcript Variant: This variant (10) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (j) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
- Source sequence(s)
-
AC067881, AK298577, BU623111, DA136318
- Consensus CDS
-
CCDS75746.1
- UniProtKB/TrEMBL
-
Q6PJH4
- Related
- ENSP00000394013.4, ENST00000445642.6
- Conserved Domains (1) summary
-
- pfam05279
Location:43 → 291
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_001164755.2 → NP_001158227.1 aspartyl/asparaginyl beta-hydroxylase isoform 11
See identical proteins and their annotated locations for NP_001158227.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (11) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (k) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
- Source sequence(s)
-
AC067881, BC025236, BU623111
- Consensus CDS
-
CCDS55237.1
- UniProtKB/TrEMBL
-
A8K721
- Related
- ENSP00000429286.1, ENST00000518068.5
- Conserved Domains (1) summary
-
- pfam05279
Location:43 → 267
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_001164756.2 → NP_001158228.1 aspartyl/asparaginyl beta-hydroxylase isoform 12
See identical proteins and their annotated locations for NP_001158228.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (12) includes an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (l) includes an alternate segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
- Source sequence(s)
-
BC066929, BU741737, DA136318
- Consensus CDS
-
CCDS55238.1
- UniProtKB/Swiss-Prot
-
Q12797
- Related
- ENSP00000368762.5, ENST00000379449.11
- Conserved Domains (1) summary
-
- pfam05279
Location:43 → 146
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_001413844.1 → NP_001400773.1 aspartyl/asparaginyl beta-hydroxylase isoform 13
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413845.1 → NP_001400774.1 aspartyl/asparaginyl beta-hydroxylase isoform 14
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413846.1 → NP_001400775.1 aspartyl/asparaginyl beta-hydroxylase isoform 15
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413847.1 → NP_001400776.1 aspartyl/asparaginyl beta-hydroxylase isoform 16
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413848.1 → NP_001400777.1 aspartyl/asparaginyl beta-hydroxylase isoform 17
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413849.1 → NP_001400778.1 aspartyl/asparaginyl beta-hydroxylase isoform 1
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413850.1 → NP_001400779.1 aspartyl/asparaginyl beta-hydroxylase isoform 18
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413851.1 → NP_001400780.1 aspartyl/asparaginyl beta-hydroxylase isoform 18
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413852.1 → NP_001400781.1 aspartyl/asparaginyl beta-hydroxylase isoform 19
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413853.1 → NP_001400782.1 aspartyl/asparaginyl beta-hydroxylase isoform 20
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413854.1 → NP_001400783.1 aspartyl/asparaginyl beta-hydroxylase isoform 21
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413855.1 → NP_001400784.1 aspartyl/asparaginyl beta-hydroxylase isoform 21
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413856.1 → NP_001400785.1 aspartyl/asparaginyl beta-hydroxylase isoform 21
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413857.1 → NP_001400786.1 aspartyl/asparaginyl beta-hydroxylase isoform 22
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413858.1 → NP_001400787.1 aspartyl/asparaginyl beta-hydroxylase isoform 23
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413859.1 → NP_001400788.1 aspartyl/asparaginyl beta-hydroxylase isoform 23
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413860.1 → NP_001400789.1 aspartyl/asparaginyl beta-hydroxylase isoform 24
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413861.1 → NP_001400790.1 aspartyl/asparaginyl beta-hydroxylase isoform 25
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413862.1 → NP_001400791.1 aspartyl/asparaginyl beta-hydroxylase isoform 26
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413863.1 → NP_001400792.1 aspartyl/asparaginyl beta-hydroxylase isoform 27
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413864.1 → NP_001400793.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413865.1 → NP_001400794.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413866.1 → NP_001400795.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413867.1 → NP_001400796.1 aspartyl/asparaginyl beta-hydroxylase isoform 28
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413868.1 → NP_001400797.1 aspartyl/asparaginyl beta-hydroxylase isoform 28
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413869.1 → NP_001400798.1 aspartyl/asparaginyl beta-hydroxylase isoform 29
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413870.1 → NP_001400799.1 aspartyl/asparaginyl beta-hydroxylase isoform 30
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413871.1 → NP_001400800.1 aspartyl/asparaginyl beta-hydroxylase isoform 31
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413872.1 → NP_001400801.1 aspartyl/asparaginyl beta-hydroxylase isoform 31
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413873.1 → NP_001400802.1 aspartyl/asparaginyl beta-hydroxylase isoform 32
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413874.1 → NP_001400803.1 aspartyl/asparaginyl beta-hydroxylase isoform 33
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413875.1 → NP_001400804.1 aspartyl/asparaginyl beta-hydroxylase isoform 34
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413876.1 → NP_001400805.1 aspartyl/asparaginyl beta-hydroxylase isoform 35
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413877.1 → NP_001400806.1 aspartyl/asparaginyl beta-hydroxylase isoform 35
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413878.1 → NP_001400807.1 aspartyl/asparaginyl beta-hydroxylase isoform 36
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413879.1 → NP_001400808.1 aspartyl/asparaginyl beta-hydroxylase isoform 37
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413880.1 → NP_001400809.1 aspartyl/asparaginyl beta-hydroxylase isoform 38
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413881.1 → NP_001400810.1 aspartyl/asparaginyl beta-hydroxylase isoform 39
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413882.1 → NP_001400811.1 aspartyl/asparaginyl beta-hydroxylase isoform 40
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413883.1 → NP_001400812.1 aspartyl/asparaginyl beta-hydroxylase isoform 41
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413884.1 → NP_001400813.1 aspartyl/asparaginyl beta-hydroxylase isoform 42
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413885.1 → NP_001400814.1 aspartyl/asparaginyl beta-hydroxylase isoform 43
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413886.1 → NP_001400815.1 aspartyl/asparaginyl beta-hydroxylase isoform 44
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413887.1 → NP_001400816.1 aspartyl/asparaginyl beta-hydroxylase isoform 44
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413888.1 → NP_001400817.1 aspartyl/asparaginyl beta-hydroxylase isoform 45
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413889.1 → NP_001400818.1 aspartyl/asparaginyl beta-hydroxylase isoform 46
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413890.1 → NP_001400819.1 aspartyl/asparaginyl beta-hydroxylase isoform 47
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413891.1 → NP_001400820.1 aspartyl/asparaginyl beta-hydroxylase isoform 48
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413893.1 → NP_001400822.1 aspartyl/asparaginyl beta-hydroxylase isoform 49
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413894.1 → NP_001400823.1 aspartyl/asparaginyl beta-hydroxylase isoform 50
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413895.1 → NP_001400824.1 aspartyl/asparaginyl beta-hydroxylase isoform 51
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413896.1 → NP_001400825.1 aspartyl/asparaginyl beta-hydroxylase isoform 52
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413897.1 → NP_001400826.1 aspartyl/asparaginyl beta-hydroxylase isoform 53
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413898.1 → NP_001400827.1 aspartyl/asparaginyl beta-hydroxylase isoform 54
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413899.1 → NP_001400828.1 aspartyl/asparaginyl beta-hydroxylase isoform 55
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413900.1 → NP_001400829.1 aspartyl/asparaginyl beta-hydroxylase isoform 56
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413901.1 → NP_001400830.1 aspartyl/asparaginyl beta-hydroxylase isoform 58
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_001413902.1 → NP_001400831.1 aspartyl/asparaginyl beta-hydroxylase isoform 2
Status: REVIEWED
- Source sequence(s)
-
AC067881
- UniProtKB/TrEMBL
-
E5RG56
-
NM_001413903.1 → NP_001400832.1 aspartyl/asparaginyl beta-hydroxylase isoform 59
Status: REVIEWED
- Source sequence(s)
-
AC067881
- UniProtKB/TrEMBL
-
A8K721
-
NM_001413904.1 → NP_001400833.1 aspartyl/asparaginyl beta-hydroxylase isoform 60
Status: REVIEWED
- Source sequence(s)
-
AC067881
- UniProtKB/TrEMBL
-
A8K721
-
NM_001413905.1 → NP_001400834.1 aspartyl/asparaginyl beta-hydroxylase isoform 61
Status: REVIEWED
- Source sequence(s)
-
AC067881
- UniProtKB/TrEMBL
-
B4DQ07
-
NM_001413906.1 → NP_001400835.1 aspartyl/asparaginyl beta-hydroxylase isoform 62
Status: REVIEWED
- Source sequence(s)
-
AC067881
- UniProtKB/TrEMBL
-
E5RG29
-
NM_001413907.1 → NP_001400836.1 aspartyl/asparaginyl beta-hydroxylase isoform 63
Status: REVIEWED
- Source sequence(s)
-
AC067881
- UniProtKB/TrEMBL
-
E5RG29
-
NM_001413908.1 → NP_001400837.1 aspartyl/asparaginyl beta-hydroxylase isoform 64
Status: REVIEWED
- Source sequence(s)
-
AC067881
- UniProtKB/TrEMBL
-
E5RG29
- Related
- ENSP00000427877.1, ENST00000518306.5
-
NM_001413909.1 → NP_001400838.1 aspartyl/asparaginyl beta-hydroxylase isoform 57
Status: REVIEWED
- Source sequence(s)
-
AC067881, AC090094
-
NM_004318.4 → NP_004309.2 aspartyl/asparaginyl beta-hydroxylase isoform 1
See identical proteins and their annotated locations for NP_004309.2
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform. The distinct C-terminus of this isoform has enzymatic activity which hydroxylates the beta carbon of aspartic acid or asparagine residues in certain epidermal growth factor-like domains of proteins such as protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
- Source sequence(s)
-
AC067881, AC090094, S83325, U03109
- Consensus CDS
-
CCDS34898.1
- UniProtKB/Swiss-Prot
- A0A0A0MSK8, A6NDF4, A6NHI2, B4DIC9, B4E2K4, B7ZM95, E5RGP5, F5H667, Q12797, Q6NXR7, Q8TB28, Q9H291, Q9H2C4, Q9NRI0, Q9NRI1, Q9Y4J0
- Related
- ENSP00000368767.4, ENST00000379454.9
- Conserved Domains (5) summary
-
- TIGR02795
Location:342 → 455
- tol_pal_ybgF; tol-pal system protein YbgF
- pfam05279
Location:43 → 310
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
- sd00006
Location:458 → 482
- TPR; TPR repeat [structural motif]
- pfam05118
Location:591 → 744
- Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
- pfam13428
Location:345 → 384
- TPR_14; Tetratricopeptide repeat
-
NM_020164.5 → NP_064549.1 aspartyl/asparaginyl beta-hydroxylase isoform 5
See identical proteins and their annotated locations for NP_064549.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (e) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin isoform 1 and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
- Source sequence(s)
-
AC067881, AF224469, BX102882, DN993915
- Consensus CDS
-
CCDS34900.1
- UniProtKB/Swiss-Prot
-
Q12797
- Related
- ENSP00000373856.4, ENST00000389204.9
- Conserved Domains (1) summary
-
- pfam05279
Location:14 → 205
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_032466.4 → NP_115855.1 aspartyl/asparaginyl beta-hydroxylase isoform 3
See identical proteins and their annotated locations for NP_115855.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (c), also known as humbug, is identical to the N-terminal and central region of isoform a. Because this transcript variant lacks the alternative 3' terminal exon which encodes a catalytic domain for isoform a, isoform c is considered a noncatalytic isoform. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
- Source sequence(s)
-
AC067881, AF289489, BC025236, BU623111
- Consensus CDS
-
CCDS43742.1
- UniProtKB/TrEMBL
-
A8K721
- Related
- ENSP00000348841.5, ENST00000356457.9
- Conserved Domains (1) summary
-
- pfam05279
Location:43 → 310
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_032467.4 → NP_115856.1 aspartyl/asparaginyl beta-hydroxylase isoform 4
See identical proteins and their annotated locations for NP_115856.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (d) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a, but lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
- Source sequence(s)
-
AC067881, AF224468, BX102882, DN993915
- Consensus CDS
-
CCDS34899.1
- UniProtKB/Swiss-Prot
-
Q12797
- Related
- ENSP00000436188.1, ENST00000522603.5
- Conserved Domains (1) summary
-
- pfam05279
Location:14 → 190
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
-
NM_032468.5 → NP_115857.1 aspartyl/asparaginyl beta-hydroxylase isoform 2
See identical proteins and their annotated locations for NP_115857.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (b) shares residues with the central region of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. Isoform b has also been referred to as junctate and is located in both the endoplasmic and sarcoplasmic reticulum. Calcium binding properties of this isoform suggest an active role in the calcium storage and release process in the endoplasmic reticulum. This variant is expressed in heart, brain, pancreas, placenta, lung, liver, kidney, and skeletal muscle tissues.
- Source sequence(s)
-
AC067881, AF306765, BU623111, DN993915
- Consensus CDS
-
CCDS47866.1
- UniProtKB/TrEMBL
-
E5RG56
- Related
- ENSP00000429954.2, ENST00000517847.7
- Conserved Domains (1) summary
-
- pfam05279
Location:14 → 296
- Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region