UniProtKB - Q9C0A6 (SETD5_HUMAN)
Protein
Histone-lysine N-methyltransferase SETD5
Gene
SETD5
Organism
Homo sapiens (Human)
Status
Functioni
Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion.By similarity
Catalytic activityi
- L-lysyl9-[histone H3] + S-adenosyl-L-methionine = H+ + N6-methyl-L-lysyl9-[histone H3] + S-adenosyl-L-homocysteineBy similarityEC:2.1.1.367By similarity
- L-lysyl36-[histone H3] + 3 S-adenosyl-L-methionine = 3 H+ + N6,N6,N6-trimethyl-L-lysyl36-[histone H3] + 3 S-adenosyl-L-homocysteineBy similarityEC:2.1.1.359By similarityThis reaction proceeds in the forwardBy similarity direction.
GO - Molecular functioni
- histone methyltransferase activity (H3-K36 specific) Source: UniProtKB
- histone methyltransferase activity (H3-K9 specific) Source: UniProtKB
GO - Biological processi
- cognition Source: UniProtKB
- covalent chromatin modification Source: UniProtKB
- histone H3-K36 trimethylation Source: UniProtKB
- regulation of chromatin organization Source: UniProtKB
- regulation of DNA-templated transcription, elongation Source: UniProtKB
- regulation of histone acetylation Source: UniProtKB
- regulation of synapse assembly Source: UniProtKB
Keywordsi
Molecular function | Chromatin regulator, Methyltransferase, Transferase |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9C0A6 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25566, SETD5 |
MIMi | 615743, gene |
neXtProti | NX_Q9C0A6 |
VEuPathDBi | HostDB:ENSG00000168137.15 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Other locations
- Chromosome By similarity
Note: Localizes to active transcribed genes.By similarity
Nucleus
- nuclear euchromatin Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Involvement in diseasei
Mental retardation, autosomal dominant 23 (MRD23)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078954 | 175 | S → G in MRD23. 1 Publication | 1 | |
Natural variantiVAR_078955 | 399 – 1442 | Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777325Add BLAST | 1044 | |
Natural variantiVAR_078956 | 445 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 998 | |
Natural variantiVAR_078957 | 622 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 821 | |
Natural variantiVAR_083220 | 656 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 787 | |
Natural variantiVAR_078958 | 768 – 1442 | Missing in MRD23. 2 PublicationsCorresponds to variant dbSNP:rs864321657Add BLAST | 675 | |
Natural variantiVAR_078959 | 973 – 1442 | Missing in MRD23. 2 PublicationsAdd BLAST | 470 | |
Natural variantiVAR_083221 | 985 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 458 | |
Natural variantiVAR_078960 | 1001 – 1442 | Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777327Add BLAST | 442 | |
Natural variantiVAR_078961 | 1071 | Y → C in MRD23; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Autism, Autism spectrum disorder, Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 55209 |
MalaCardsi | SETD5 |
MIMi | 615761, phenotype |
OpenTargetsi | ENSG00000168137 |
Orphaneti | 199, Cornelia de Lange syndrome 404440, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
PharmGKBi | PA143485613 |
Miscellaneous databases
Pharosi | Q9C0A6, Tbio |
Genetic variation databases
BioMutai | SETD5 |
DMDMi | 143584285 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000281905 | 1 – 1442 | Histone-lysine N-methyltransferase SETD5Add BLAST | 1442 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 72 | PhosphoserineCombined sources | 1 | |
Modified residuei | 829 | PhosphoserineCombined sources | 1 | |
Modified residuei | 852 | PhosphoserineBy similarity | 1 | |
Modified residuei | 855 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 1198 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9C0A6 |
jPOSTi | Q9C0A6 |
MassIVEi | Q9C0A6 |
MaxQBi | Q9C0A6 |
PaxDbi | Q9C0A6 |
PeptideAtlasi | Q9C0A6 |
PRIDEi | Q9C0A6 |
ProteomicsDBi | 79978 [Q9C0A6-1] 79979 [Q9C0A6-2] 79980 [Q9C0A6-3] |
PTM databases
iPTMneti | Q9C0A6 |
PhosphoSitePlusi | Q9C0A6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000168137, Expressed in intestine and 236 other tissues |
ExpressionAtlasi | Q9C0A6, baseline and differential |
Genevisiblei | Q9C0A6, HS |
Organism-specific databases
HPAi | ENSG00000168137, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with components of the PAF1 complex (PAF1C) such as LEO1, CTR9 and CDC73.
Interacts with NCOR1.
Interacts with HDAC3.
By similarityBinary interactionsi
Hide detailsIsoform 2 [Q9C0A6-2]
With | #Exp. | IntAct |
---|---|---|
CEP70 [Q8NHQ1] | 3 | EBI-10303449,EBI-739624 |
KRT40 [Q6A162] | 3 | EBI-10303449,EBI-10171697 |
MTUS2 [Q5JR59] | 3 | EBI-10303449,EBI-742948 |
Isoform 3 [Q9C0A6-3]
With | #Exp. | IntAct |
---|---|---|
CALCOCO2 [Q13137] | 3 | EBI-12233047,EBI-739580 |
PLEKHG4 [Q58EX7] | 3 | EBI-12233047,EBI-949255 |
SORBS3 [O60504] | 3 | EBI-12233047,EBI-741237 |
TP53BP2 [Q05BL1] | 3 | EBI-12233047,EBI-11952721 |
Protein-protein interaction databases
BioGRIDi | 120505, 21 interactors |
IntActi | Q9C0A6, 18 interactors |
STRINGi | 9606.ENSP00000385852 |
Miscellaneous databases
RNActi | Q9C0A6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 269 – 390 | SETPROSITE-ProRule annotationAdd BLAST | 122 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1089 – 1411 | Ser-richAdd BLAST | 323 |
Phylogenomic databases
eggNOGi | KOG1844, Eukaryota |
GeneTreei | ENSGT00940000157446 |
InParanoidi | Q9C0A6 |
OrthoDBi | 86638at2759 |
PhylomeDBi | Q9C0A6 |
TreeFami | TF106417 |
Family and domain databases
InterProi | View protein in InterPro IPR001214, SET_dom |
Pfami | View protein in Pfam PF00856, SET, 1 hit |
SMARTi | View protein in SMART SM00317, SET, 1 hit |
PROSITEi | View protein in PROSITE PS50280, SET, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9C0A6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSIAIPLGVT TSDTSYSDMA AGSDPESVEA SPAVNEKSVY STHNYGTTQR
60 70 80 90 100
HGCRGLPYAT IIPRSDLNGL PSPVEERCGD SPNSEGETVP TWCPCGLSQD
110 120 130 140 150
GFLLNCDKCR GMSRGKVIRL HRRKQDNISG GDSSATESWD EELSPSTVLY
160 170 180 190 200
TATQHTPTSI TLTVRRTKPK KRKKSPEKGR AAPKTKKIKN SPSEAQNLDE
210 220 230 240 250
NTTEGWENRI RLWTDQYEEA FTNQYSADVQ NALEQHLHSS KEFVGKPTIL
260 270 280 290 300
DTINKTELAC NNTVIGSQMQ LQLGRVTRVQ KHRKILRAAR DLALDTLIIE
310 320 330 340 350
YRGKVMLRQQ FEVNGHFFKK PYPFVLFYSK FNGVEMCVDA RTFGNDARFI
360 370 380 390 400
RRSCTPNAEV RHMIADGMIH LCIYAVSAIT KDAEVTIAFD YEYSNCNYKV
410 420 430 440 450
DCACHKGNRN CPIQKRNPNA TELPLLPPPP SLPTIGAETR RRKARRKELE
460 470 480 490 500
MEQQNEASEE NNDQQSQEVP EKVTVSSDHE EVDNPEEKPE EEKEEVIDDQ
510 520 530 540 550
ENLAHSRRTR EDRKVEAIMH AFENLEKRKK RRDQPLEQSN SDVEITTTTS
560 570 580 590 600
ETPVGEETKT EAPESEVSNS VSNVTIPSTP QSVGVNTRRS SQAGDIAAEK
610 620 630 640 650
LVPKPPPAKP SRPRPKSRIS RYRTSSAQRL KRQKQANAQQ AELSQAALEE
660 670 680 690 700
GGSNSLVTPT EAGSLDSSGE NRPLTGSDPT VVSITGSHVN RAASKYPKTK
710 720 730 740 750
KYLVTEWLND KAEKQECPVE CPLRITTDPT VLATTLNMLP GLIHSPLICT
760 770 780 790 800
TPKHYIRFGS PFIPERRRRP LLPDGTFSSC KKRWIKQALE EGMTQTSSVP
810 820 830 840 850
QETRTQHLYQ SNENSSSSSI CKDNADLLSP LKKWKSRYLM EQNVTKLLRP
860 870 880 890 900
LSPVTPPPPN SGSKSPQLAT PGSSHPGEEE CRNGYSLMFS PVTSLTTASR
910 920 930 940 950
CNTPLQFELC HRKDLDLAKV GYLDSNTNSC ADRPSLLNSG HSDLAPHPSL
960 970 980 990 1000
GPTSETGFPS RSGDGHQTLV RNSDQAFRTE FNLMYAYSPL NAMPRADGLY
1010 1020 1030 1040 1050
RGSPLVGDRK PLHLDGGYCS PAEGFSSRYE HGLMKDLSRG SLSPGGERAC
1060 1070 1080 1090 1100
EGVPSAPQNP PQRKKVSLLE YRKRKQEAKE NSAGGGGDSA QSKSKSAGAG
1110 1120 1130 1140 1150
QGSSNSVSDT GAHGVQGSSA RTPSSPHKKF SPSHSSMSHL EAVSPSDSRG
1160 1170 1180 1190 1200
TSSSHCRPQE NISSRWMVPT SVERLREGGS IPKVLRSSVR VAQKGEPSPT
1210 1220 1230 1240 1250
WESNITEKDS DPADGEGPET LSSALSKGAT VYSPSRYSYQ LLQCDSPRTE
1260 1270 1280 1290 1300
SQSLLQQSSS PFRGHPTQSP GYSYRTTALR PGNPPSHGSS ESSLSSTSYS
1310 1320 1330 1340 1350
SPAHPVSTDS LAPFTGTPGY FSSQPHSGNS TGSNLPRRSC PSSAASPTLQ
1360 1370 1380 1390 1400
GPSDSPTSDS VSQSSTGTLS STSFPQNSRS SLPSDLRTIS LPSAGQSAVY
1410 1420 1430 1440
QASRVSAVSN SQHYPHRGSG GVHQYRLQPL QGSGVKTQTG LS
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EWN3 | E7EWN3_HUMAN | Histone-lysine N-methyltransferase ... | SETD5 | 1,461 | Annotation score: | ||
H0Y3R4 | H0Y3R4_HUMAN | Histone-lysine N-methyltransferase ... | SETD5 | 911 | Annotation score: | ||
H7C1Q2 | H7C1Q2_HUMAN | Histone-lysine N-methyltransferase ... | SETD5 | 177 | Annotation score: | ||
H7C1F2 | H7C1F2_HUMAN | Histone-lysine N-methyltransferase ... | SETD5 | 441 | Annotation score: | ||
F2Z2J0 | F2Z2J0_HUMAN | Histone-lysine N-methyltransferase ... | SETD5 | 52 | Annotation score: | ||
F8WD12 | F8WD12_HUMAN | Histone-lysine N-methyltransferase ... | SETD5 | 65 | Annotation score: |
Sequence cautioni
The sequence AAH20956 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA91762 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14903 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15144 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB21848 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 369 | I → N in CAH10497 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 869 | A → V in CAH10497 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 985 | Y → H in CAH10497 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1123 | P → S in BAB14903 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051336 | 77 | R → H. Corresponds to variant dbSNP:rs41387348EnsemblClinVar. | 1 | |
Natural variantiVAR_051337 | 119 | R → I. Corresponds to variant dbSNP:rs11720526Ensembl. | 1 | |
Natural variantiVAR_078954 | 175 | S → G in MRD23. 1 Publication | 1 | |
Natural variantiVAR_078955 | 399 – 1442 | Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777325Add BLAST | 1044 | |
Natural variantiVAR_078956 | 445 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 998 | |
Natural variantiVAR_078957 | 622 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 821 | |
Natural variantiVAR_083220 | 656 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 787 | |
Natural variantiVAR_078958 | 768 – 1442 | Missing in MRD23. 2 PublicationsCorresponds to variant dbSNP:rs864321657Add BLAST | 675 | |
Natural variantiVAR_078959 | 973 – 1442 | Missing in MRD23. 2 PublicationsAdd BLAST | 470 | |
Natural variantiVAR_083221 | 985 – 1442 | Missing in MRD23. 1 PublicationAdd BLAST | 458 | |
Natural variantiVAR_078960 | 1001 – 1442 | Missing in MRD23. 1 PublicationCorresponds to variant dbSNP:rs587777327Add BLAST | 442 | |
Natural variantiVAR_078961 | 1071 | Y → C in MRD23; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_051338 | 1137 | M → V. Corresponds to variant dbSNP:rs13327456EnsemblClinVar. | 1 | |
Natural variantiVAR_061705 | 1308 | T → I. Corresponds to variant dbSNP:rs11542009Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024094 | 1 – 111 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 111 | |
Alternative sequenceiVSP_024095 | 188 | I → IKAFREGSRKSLRM in isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB051544 mRNA Translation: BAB21848.1 Different initiation. AL442073 mRNA Translation: CAC09439.2 CR627408 mRNA Translation: CAH10497.1 AC018506 Genomic DNA No translation available. BC020956 mRNA Translation: AAH20956.1 Different initiation. AK001569 mRNA Translation: BAA91762.1 Different initiation. AK024384 mRNA Translation: BAB14903.1 Different initiation. AK025478 mRNA Translation: BAB15144.1 Different initiation. |
CCDSi | CCDS46741.1 [Q9C0A6-1] CCDS74892.1 [Q9C0A6-3] |
RefSeqi | NP_001073986.1, NM_001080517.2 [Q9C0A6-1] NP_001278972.1, NM_001292043.1 [Q9C0A6-3] XP_016862270.1, XM_017006781.1 |
Genome annotation databases
Ensembli | ENST00000402198; ENSP00000385852; ENSG00000168137 [Q9C0A6-1] ENST00000406341; ENSP00000383939; ENSG00000168137 [Q9C0A6-1] |
GeneIDi | 55209 |
KEGGi | hsa:55209 |
UCSCi | uc003brt.3, human [Q9C0A6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB051544 mRNA Translation: BAB21848.1 Different initiation. AL442073 mRNA Translation: CAC09439.2 CR627408 mRNA Translation: CAH10497.1 AC018506 Genomic DNA No translation available. BC020956 mRNA Translation: AAH20956.1 Different initiation. AK001569 mRNA Translation: BAA91762.1 Different initiation. AK024384 mRNA Translation: BAB14903.1 Different initiation. AK025478 mRNA Translation: BAB15144.1 Different initiation. |
CCDSi | CCDS46741.1 [Q9C0A6-1] CCDS74892.1 [Q9C0A6-3] |
RefSeqi | NP_001073986.1, NM_001080517.2 [Q9C0A6-1] NP_001278972.1, NM_001292043.1 [Q9C0A6-3] XP_016862270.1, XM_017006781.1 |
3D structure databases
SMRi | Q9C0A6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120505, 21 interactors |
IntActi | Q9C0A6, 18 interactors |
STRINGi | 9606.ENSP00000385852 |
PTM databases
iPTMneti | Q9C0A6 |
PhosphoSitePlusi | Q9C0A6 |
Genetic variation databases
BioMutai | SETD5 |
DMDMi | 143584285 |
Proteomic databases
EPDi | Q9C0A6 |
jPOSTi | Q9C0A6 |
MassIVEi | Q9C0A6 |
MaxQBi | Q9C0A6 |
PaxDbi | Q9C0A6 |
PeptideAtlasi | Q9C0A6 |
PRIDEi | Q9C0A6 |
ProteomicsDBi | 79978 [Q9C0A6-1] 79979 [Q9C0A6-2] 79980 [Q9C0A6-3] |
Protocols and materials databases
Antibodypediai | 60053, 82 antibodies |
Genome annotation databases
Ensembli | ENST00000402198; ENSP00000385852; ENSG00000168137 [Q9C0A6-1] ENST00000406341; ENSP00000383939; ENSG00000168137 [Q9C0A6-1] |
GeneIDi | 55209 |
KEGGi | hsa:55209 |
UCSCi | uc003brt.3, human [Q9C0A6-1] |
Organism-specific databases
CTDi | 55209 |
DisGeNETi | 55209 |
GeneCardsi | SETD5 |
HGNCi | HGNC:25566, SETD5 |
HPAi | ENSG00000168137, Low tissue specificity |
MalaCardsi | SETD5 |
MIMi | 615743, gene 615761, phenotype |
neXtProti | NX_Q9C0A6 |
OpenTargetsi | ENSG00000168137 |
Orphaneti | 199, Cornelia de Lange syndrome 404440, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
PharmGKBi | PA143485613 |
VEuPathDBi | HostDB:ENSG00000168137.15 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1844, Eukaryota |
GeneTreei | ENSGT00940000157446 |
InParanoidi | Q9C0A6 |
OrthoDBi | 86638at2759 |
PhylomeDBi | Q9C0A6 |
TreeFami | TF106417 |
Enzyme and pathway databases
PathwayCommonsi | Q9C0A6 |
Miscellaneous databases
BioGRID-ORCSi | 55209, 88 hits in 880 CRISPR screens |
ChiTaRSi | SETD5, human |
GenomeRNAii | 55209 |
Pharosi | Q9C0A6, Tbio |
PROi | PR:Q9C0A6 |
RNActi | Q9C0A6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168137, Expressed in intestine and 236 other tissues |
ExpressionAtlasi | Q9C0A6, baseline and differential |
Genevisiblei | Q9C0A6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR001214, SET_dom |
Pfami | View protein in Pfam PF00856, SET, 1 hit |
SMARTi | View protein in SMART SM00317, SET, 1 hit |
PROSITEi | View protein in PROSITE PS50280, SET, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SETD5_HUMAN | |
Accessioni | Q9C0A6Primary (citable) accession number: Q9C0A6 Secondary accession number(s): Q6AI17 Q9NVI9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 3, 2007 |
Last sequence update: | April 3, 2007 | |
Last modified: | February 10, 2021 | |
This is version 128 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot