UniProtKB - Q9NRG9 (AAAS_HUMAN)
Protein
Aladin
Gene
AAAS
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606).4 Publications
GO - Biological processi
- fertilization Source: Ensembl
- intracellular transport of virus Source: Reactome
- learning Source: Ensembl
- microtubule bundle formation Source: UniProtKB
- mitotic spindle assembly Source: UniProtKB
- mRNA export from nucleus Source: Reactome
- nucleocytoplasmic transport Source: MGI
- protein sumoylation Source: Reactome
- regulation of cellular response to heat Source: Reactome
- regulation of gene silencing by miRNA Source: Reactome
- regulation of glycolytic process Source: Reactome
- regulation of nucleocytoplasmic transport Source: UniProtKB
- tRNA export from nucleus Source: Reactome
- viral process Source: Reactome
- viral transcription Source: Reactome
Keywordsi
Biological process | mRNA transport, Protein transport, Translocation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9NRG9 |
Reactomei | R-HSA-1169408, ISG15 antiviral mechanism R-HSA-159227, Transport of the SLBP independent Mature mRNA R-HSA-159230, Transport of the SLBP Dependant Mature mRNA R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript R-HSA-165054, Rev-mediated nuclear export of HIV RNA R-HSA-168271, Transport of Ribonucleoproteins into the Host Nucleus R-HSA-168276, NS1 Mediated Effects on Host Pathways R-HSA-168325, Viral Messenger RNA Synthesis R-HSA-168333, NEP/NS2 Interacts with the Cellular Export Machinery R-HSA-170822, Regulation of Glucokinase by Glucokinase Regulatory Protein R-HSA-180746, Nuclear import of Rev protein R-HSA-180910, Vpr-mediated nuclear import of PICs R-HSA-191859, snRNP Assembly R-HSA-3108214, SUMOylation of DNA damage response and repair proteins R-HSA-3232142, SUMOylation of ubiquitinylation proteins R-HSA-3301854, Nuclear Pore Complex (NPC) Disassembly R-HSA-3371453, Regulation of HSF1-mediated heat shock response R-HSA-4085377, SUMOylation of SUMOylation proteins R-HSA-4551638, SUMOylation of chromatin organization proteins R-HSA-4570464, SUMOylation of RNA binding proteins R-HSA-4615885, SUMOylation of DNA replication proteins R-HSA-5578749, Transcriptional regulation by small RNAs R-HSA-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) R-HSA-6784531, tRNA processing in the nucleus R-HSA-9609690, HCMV Early Events R-HSA-9610379, HCMV Late Events |
SignaLinki | Q9NRG9 |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family |
Names & Taxonomyi
Protein namesi | Recommended name: AladinAlternative name(s): Adracalin |
Gene namesi | Name:AAAS Synonyms:ADRACALA ORF Names:GL003 |
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:13666, AAAS |
MIMi | 605378, gene |
neXtProti | NX_Q9NRG9 |
VEuPathDBi | HostDB:ENSG00000094914.12 |
Subcellular locationi
Cytoskeleton
- spindle pole 1 Publication
Nucleus
- nuclear pore complex 1 Publication
- Nucleus envelope 1 Publication
Note: In metaphase cells localizes within the spindle with some accumulation around spindle poles, with the highest concentration between the centrosome and metaphase plate (PubMed:26246606). The localization to the spindle is microtubule-mediated (PubMed:26246606).1 Publication
Cytoskeleton
- centrosome Source: HPA
- mitotic spindle Source: UniProtKB
- spindle pole Source: UniProtKB
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear envelope Source: UniProtKB
- nuclear membrane Source: HPA
- nuclear pore Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, Nuclear pore complex, NucleusPathology & Biotechi
Involvement in diseasei
Achalasia-addisonianism-alacrima syndrome (AAAS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012804 | 15 | Q → K in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918549EnsemblClinVar. | 1 | |
Natural variantiVAR_080414 | 84 – 546 | Missing in AAAS. 1 PublicationAdd BLAST | 463 | |
Natural variantiVAR_012805 | 160 | H → R in AAAS. 1 PublicationCorresponds to variant dbSNP:rs1297831120Ensembl. | 1 | |
Natural variantiVAR_012806 | 263 | S → P in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918550EnsemblClinVar. | 1 | |
Natural variantiVAR_080415 | 286 – 546 | Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST | 261 | |
Natural variantiVAR_080416 | 342 – 546 | Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST | 205 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 8086 |
MalaCardsi | AAAS |
MIMi | 231550, phenotype |
OpenTargetsi | ENSG00000094914 |
Orphaneti | 869, Triple A syndrome |
PharmGKBi | PA24361 |
Miscellaneous databases
Pharosi | Q9NRG9, Tbio |
Genetic variation databases
BioMutai | AAAS |
DMDMi | 20137527 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000050828 | 2 – 546 | AladinAdd BLAST | 545 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylcysteineCombined sources | 1 | |
Modified residuei | 33 | PhosphoserineCombined sources | 1 | |
Modified residuei | 495 | PhosphoserineCombined sources | 1 | |
Modified residuei | 511 | PhosphoserineCombined sources | 1 | |
Modified residuei | 522 | PhosphoserineBy similarity | 1 | |
Modified residuei | 525 | PhosphoserineBy similarity | 1 | |
Modified residuei | 541 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9NRG9 |
jPOSTi | Q9NRG9 |
MassIVEi | Q9NRG9 |
MaxQBi | Q9NRG9 |
PaxDbi | Q9NRG9 |
PeptideAtlasi | Q9NRG9 |
PRIDEi | Q9NRG9 |
ProteomicsDBi | 82359 [Q9NRG9-1] 82360 [Q9NRG9-2] |
PTM databases
iPTMneti | Q9NRG9 |
PhosphoSitePlusi | Q9NRG9 |
SwissPalmi | Q9NRG9 |
Expressioni
Tissue specificityi
Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).2 Publications
Gene expression databases
Bgeei | ENSG00000094914, Expressed in lower esophagus muscularis layer and 215 other tissues |
ExpressionAtlasi | Q9NRG9, baseline and differential |
Genevisiblei | Q9NRG9, HS |
Organism-specific databases
HPAi | ENSG00000094914, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 113759, 63 interactors |
ComplexPortali | CPX-873, Nuclear pore complex |
IntActi | Q9NRG9, 22 interactors |
STRINGi | 9606.ENSP00000209873 |
Miscellaneous databases
RNActi | Q9NRG9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 142 – 180 | WD 1Add BLAST | 39 | |
Repeati | 183 – 222 | WD 2Add BLAST | 40 | |
Repeati | 234 – 274 | WD 3Add BLAST | 41 | |
Repeati | 280 – 316 | WD 4Add BLAST | 37 | |
Repeati | 324 – 380 | WD 5Add BLAST | 57 | |
Repeati | 386 – 433 | WD 6Add BLAST | 48 | |
Repeati | 442 – 482 | WD 7Add BLAST | 41 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 544 – 546 | Microbody targeting signalSequence analysis | 3 |
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG2139, Eukaryota |
GeneTreei | ENSGT00390000009446 |
HOGENOMi | CLU_027691_0_1_1 |
InParanoidi | Q9NRG9 |
OMAi | LNWSDCV |
OrthoDBi | 628517at2759 |
PhylomeDBi | Q9NRG9 |
TreeFami | TF324412 |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom |
Pfami | View protein in Pfam PF00400, WD40, 1 hit |
SMARTi | View protein in SMART SM00320, WD40, 4 hits |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 1 hit PS50082, WD_REPEATS_2, 1 hit PS50294, WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NRG9-1) [UniParc]FASTAAdd to basket
Also known as: AAAS-v1
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
MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL
60 70 80 90 100
TKDPLKTPGR LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE
110 120 130 140 150
EEVFEWVKTA SGWALALCRW ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS
160 170 180 190 200
SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA SSTIVPSLKH RLQRNVASLA
210 220 230 240 250
WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS HPGHTPVTSL
260 270 280 290 300
AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS
310 320 330 340 350
KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE
360 370 380 390 400
PLIYSLSFPE RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH
410 420 430 440 450
SMVWDPSGER LAVLMKGKPR VQDGKPVILL FRTRNSPVFE LLPCGIIQGE
460 470 480 490 500
PGAQPQLITF HPSFNKGALL SVGWSTGRIA HIPLYFVNAQ FPRFSPVLGR
510 520 530 540
AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH SPHSHL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VZ44 | F8VZ44_HUMAN | Aladin | AAAS | 422 | Annotation score: | ||
H3BU82 | H3BU82_HUMAN | Aladin | AAAS | 358 | Annotation score: | ||
F8VUB6 | F8VUB6_HUMAN | Aladin | AAAS | 127 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 122 | S → P in BAA91394 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 135 | R → K in BAA91394 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 479 | I → V in BAA91394 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012804 | 15 | Q → K in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918549EnsemblClinVar. | 1 | |
Natural variantiVAR_080414 | 84 – 546 | Missing in AAAS. 1 PublicationAdd BLAST | 463 | |
Natural variantiVAR_037060 | 108 | K → M. Corresponds to variant dbSNP:rs13330Ensembl. | 1 | |
Natural variantiVAR_012805 | 160 | H → R in AAAS. 1 PublicationCorresponds to variant dbSNP:rs1297831120Ensembl. | 1 | |
Natural variantiVAR_012806 | 263 | S → P in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918550EnsemblClinVar. | 1 | |
Natural variantiVAR_080415 | 286 – 546 | Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST | 261 | |
Natural variantiVAR_080416 | 342 – 546 | Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST | 205 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043014 | 149 – 182 | WSSCC…YNASS → C in isoform 2. 1 PublicationAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ289857 mRNA Translation: CAC19017.1 AJ289841 , AJ289842, AJ289843, AJ289844, AJ289845, AJ289846, AJ289847, AJ289848, AJ289849, AJ289850, AJ289851, AJ289852, AJ289853, AJ289854, AJ289855, AJ289856 Genomic DNA Translation: CAC19038.1 AJ297977 Genomic DNA Translation: CAC17465.1 AY237818 mRNA Translation: AAP69911.1 AF226048 mRNA Translation: AAF86948.1 AK000833 mRNA Translation: BAA91394.1 BT006912 mRNA Translation: AAP35558.1 AC073611 Genomic DNA No translation available. BC000659 mRNA Translation: AAH00659.1 AL110160 mRNA Translation: CAB53665.2 |
CCDSi | CCDS53797.1 [Q9NRG9-2] CCDS8856.1 [Q9NRG9-1] |
RefSeqi | NP_001166937.1, NM_001173466.1 [Q9NRG9-2] NP_056480.1, NM_015665.5 [Q9NRG9-1] |
Genome annotation databases
Ensembli | ENST00000209873; ENSP00000209873; ENSG00000094914 [Q9NRG9-1] ENST00000394384; ENSP00000377908; ENSG00000094914 [Q9NRG9-2] |
GeneIDi | 8086 |
KEGGi | hsa:8086 |
UCSCi | uc001scr.5, human [Q9NRG9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ289857 mRNA Translation: CAC19017.1 AJ289841 , AJ289842, AJ289843, AJ289844, AJ289845, AJ289846, AJ289847, AJ289848, AJ289849, AJ289850, AJ289851, AJ289852, AJ289853, AJ289854, AJ289855, AJ289856 Genomic DNA Translation: CAC19038.1 AJ297977 Genomic DNA Translation: CAC17465.1 AY237818 mRNA Translation: AAP69911.1 AF226048 mRNA Translation: AAF86948.1 AK000833 mRNA Translation: BAA91394.1 BT006912 mRNA Translation: AAP35558.1 AC073611 Genomic DNA No translation available. BC000659 mRNA Translation: AAH00659.1 AL110160 mRNA Translation: CAB53665.2 |
CCDSi | CCDS53797.1 [Q9NRG9-2] CCDS8856.1 [Q9NRG9-1] |
RefSeqi | NP_001166937.1, NM_001173466.1 [Q9NRG9-2] NP_056480.1, NM_015665.5 [Q9NRG9-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 113759, 63 interactors |
ComplexPortali | CPX-873, Nuclear pore complex |
IntActi | Q9NRG9, 22 interactors |
STRINGi | 9606.ENSP00000209873 |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family |
PTM databases
iPTMneti | Q9NRG9 |
PhosphoSitePlusi | Q9NRG9 |
SwissPalmi | Q9NRG9 |
Genetic variation databases
BioMutai | AAAS |
DMDMi | 20137527 |
Proteomic databases
EPDi | Q9NRG9 |
jPOSTi | Q9NRG9 |
MassIVEi | Q9NRG9 |
MaxQBi | Q9NRG9 |
PaxDbi | Q9NRG9 |
PeptideAtlasi | Q9NRG9 |
PRIDEi | Q9NRG9 |
ProteomicsDBi | 82359 [Q9NRG9-1] 82360 [Q9NRG9-2] |
Protocols and materials databases
Antibodypediai | 27006, 236 antibodies |
DNASUi | 8086 |
Genome annotation databases
Ensembli | ENST00000209873; ENSP00000209873; ENSG00000094914 [Q9NRG9-1] ENST00000394384; ENSP00000377908; ENSG00000094914 [Q9NRG9-2] |
GeneIDi | 8086 |
KEGGi | hsa:8086 |
UCSCi | uc001scr.5, human [Q9NRG9-1] |
Organism-specific databases
CTDi | 8086 |
DisGeNETi | 8086 |
GeneCardsi | AAAS |
HGNCi | HGNC:13666, AAAS |
HPAi | ENSG00000094914, Low tissue specificity |
MalaCardsi | AAAS |
MIMi | 231550, phenotype 605378, gene |
neXtProti | NX_Q9NRG9 |
OpenTargetsi | ENSG00000094914 |
Orphaneti | 869, Triple A syndrome |
PharmGKBi | PA24361 |
VEuPathDBi | HostDB:ENSG00000094914.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2139, Eukaryota |
GeneTreei | ENSGT00390000009446 |
HOGENOMi | CLU_027691_0_1_1 |
InParanoidi | Q9NRG9 |
OMAi | LNWSDCV |
OrthoDBi | 628517at2759 |
PhylomeDBi | Q9NRG9 |
TreeFami | TF324412 |
Enzyme and pathway databases
PathwayCommonsi | Q9NRG9 |
Reactomei | R-HSA-1169408, ISG15 antiviral mechanism R-HSA-159227, Transport of the SLBP independent Mature mRNA R-HSA-159230, Transport of the SLBP Dependant Mature mRNA R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript R-HSA-165054, Rev-mediated nuclear export of HIV RNA R-HSA-168271, Transport of Ribonucleoproteins into the Host Nucleus R-HSA-168276, NS1 Mediated Effects on Host Pathways R-HSA-168325, Viral Messenger RNA Synthesis R-HSA-168333, NEP/NS2 Interacts with the Cellular Export Machinery R-HSA-170822, Regulation of Glucokinase by Glucokinase Regulatory Protein R-HSA-180746, Nuclear import of Rev protein R-HSA-180910, Vpr-mediated nuclear import of PICs R-HSA-191859, snRNP Assembly R-HSA-3108214, SUMOylation of DNA damage response and repair proteins R-HSA-3232142, SUMOylation of ubiquitinylation proteins R-HSA-3301854, Nuclear Pore Complex (NPC) Disassembly R-HSA-3371453, Regulation of HSF1-mediated heat shock response R-HSA-4085377, SUMOylation of SUMOylation proteins R-HSA-4551638, SUMOylation of chromatin organization proteins R-HSA-4570464, SUMOylation of RNA binding proteins R-HSA-4615885, SUMOylation of DNA replication proteins R-HSA-5578749, Transcriptional regulation by small RNAs R-HSA-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) R-HSA-6784531, tRNA processing in the nucleus R-HSA-9609690, HCMV Early Events R-HSA-9610379, HCMV Late Events |
SignaLinki | Q9NRG9 |
Miscellaneous databases
BioGRID-ORCSi | 8086, 165 hits in 877 CRISPR screens |
ChiTaRSi | AAAS, human |
GeneWikii | AAAS_(gene) |
GenomeRNAii | 8086 |
Pharosi | Q9NRG9, Tbio |
PROi | PR:Q9NRG9 |
RNActi | Q9NRG9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000094914, Expressed in lower esophagus muscularis layer and 215 other tissues |
ExpressionAtlasi | Q9NRG9, baseline and differential |
Genevisiblei | Q9NRG9, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits |
InterProi | View protein in InterPro IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR019775, WD40_repeat_CS IPR017986, WD40_repeat_dom |
Pfami | View protein in Pfam PF00400, WD40, 1 hit |
SMARTi | View protein in SMART SM00320, WD40, 4 hits |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 1 hit PS50082, WD_REPEATS_2, 1 hit PS50294, WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AAAS_HUMAN | |
Accessioni | Q9NRG9Primary (citable) accession number: Q9NRG9 Secondary accession number(s): Q5JB47, Q9NWI6, Q9UG19 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 27, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 191 of the entry and version 1 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 12
Human chromosome 12: 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