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UniProtKB - Q9H7C9 (AAMDC_HUMAN)
Protein
Mth938 domain-containing protein
Gene
AAMDC
Organism
Homo sapiens (Human)
Status
Functioni
May play a role in preadipocyte differentiation and adipogenesis.
By similarityGO - Biological processi
- positive regulation of fat cell differentiation Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q9H7C9 |
SignaLinki | Q9H7C9 |
Names & Taxonomyi
Protein namesi | Recommended name: Mth938 domain-containing proteinAlternative name(s): Adipogenesis associated Mth938 domain-containing protein |
Gene namesi | Name:AAMDC Synonyms:C11orf67 ORF Names:PTD015 |
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:30205, AAMDC |
neXtProti | NX_Q9H7C9 |
VEuPathDBi | HostDB:ENSG00000087884 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Note: Diffuse distribution with some highly concentrated spots around the nucleus.By similarity
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 28971 |
OpenTargetsi | ENSG00000087884 |
PharmGKBi | PA144596486 |
Miscellaneous databases
Pharosi | Q9H7C9, Tdark |
Genetic variation databases
BioMutai | AAMDC |
DMDMi | 74733628 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000239814 | 1 – 122 | Mth938 domain-containing proteinAdd BLAST | 122 |
Proteomic databases
EPDi | Q9H7C9 |
jPOSTi | Q9H7C9 |
MassIVEi | Q9H7C9 |
MaxQBi | Q9H7C9 |
PaxDbi | Q9H7C9 |
PeptideAtlasi | Q9H7C9 |
PRIDEi | Q9H7C9 |
ProteomicsDBi | 81102 [Q9H7C9-1] 81103 [Q9H7C9-2] 81104 [Q9H7C9-3] |
PTM databases
iPTMneti | Q9H7C9 |
PhosphoSitePlusi | Q9H7C9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000087884, Expressed in vastus lateralis and 238 other tissues |
ExpressionAtlasi | Q9H7C9, baseline and differential |
Genevisiblei | Q9H7C9, HS |
Organism-specific databases
HPAi | ENSG00000087884, Tissue enhanced (skeletal) |
Interactioni
Binary interactionsi
Q9H7C9
Protein-protein interaction databases
BioGRIDi | 118795, 32 interactors |
IntActi | Q9H7C9, 13 interactors |
MINTi | Q9H7C9 |
STRINGi | 9606.ENSP00000431808 |
Miscellaneous databases
RNActi | Q9H7C9, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q9H7C9 |
SMRi | Q9H7C9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9H7C9 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 6 – 122 | MTH138-like domainBy similarityAdd BLAST | 117 |
Sequence similaritiesi
Belongs to the AAMDC family.Curated
Phylogenomic databases
eggNOGi | ENOG502S00Z, Eukaryota |
GeneTreei | ENSGT00390000011958 |
HOGENOMi | CLU_074390_4_0_1 |
InParanoidi | Q9H7C9 |
OrthoDBi | 1403160at2759 |
PhylomeDBi | Q9H7C9 |
TreeFami | TF332083 |
Family and domain databases
CDDi | cd05126, Mth938, 1 hit |
Gene3Di | 3.40.1230.10, 1 hit |
InterProi | View protein in InterPro IPR034096, AAMDC IPR036748, MTH938-like_sf IPR007523, NDUFAF3/AAMDC |
Pfami | View protein in Pfam PF04430, DUF498, 1 hit |
SUPFAMi | SSF64076, SSF64076, 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 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9H7C9-1) [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
MTSPEIASLS WGQMKVKGSN TTYKDCKVWP GGSRTWDWRE TGTEHSPGVQ
60 70 80 90 100
PADVKEVVEK GVQTLVIGRG MSEALKVPSS TVEYLKKHGI DVRVLQTEQA
110 120
VKEYNALVAQ GVRVGGVFHS TC
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK4DI89 | K4DI89_HUMAN | Mth938 domain-containing protein | AAMDC PTD015, hCG_27117 | 147 | Annotation score: | ||
E9PLK9 | E9PLK9_HUMAN | Mth938 domain-containing protein | AAMDC | 137 | Annotation score: | ||
E9PNP3 | E9PNP3_HUMAN | Mth938 domain-containing protein | AAMDC | 141 | Annotation score: | ||
E9PR47 | E9PR47_HUMAN | Mth938 domain-containing protein | AAMDC | 168 | Annotation score: | ||
E9PIQ4 | E9PIQ4_HUMAN | Mth938 domain-containing protein | AAMDC | 90 | Annotation score: | ||
E9PJP1 | E9PJP1_HUMAN | Mth938 domain-containing protein | AAMDC | 93 | Annotation score: | ||
H0YF35 | H0YF35_HUMAN | Mth938 domain-containing protein | AAMDC | 51 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052696 | 92 | V → M. Corresponds to variant dbSNP:rs2186564Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_019267 | 77 – 118 | VPSST…VGGVF → APTQQLPSGVHVRAGVQFHL LQLHGTSFERCKTGAGLTSN ML in isoform 2. 1 PublicationAdd BLAST | 42 | |
Alternative sequenceiVSP_019266 | 77 – 88 | VPSST…YLKKH → DGIQGAQLDLNC in isoform 3. 1 PublicationAdd BLAST | 12 | |
Alternative sequenceiVSP_019268 | 89 – 122 | Missing in isoform 3. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_019269 | 119 – 122 | Missing in isoform 2. 1 Publication | 4 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF092136 mRNA Translation: AAD40378.1 AK024688 mRNA Translation: BAB14963.1 CR457332 mRNA Translation: CAG33613.1 AP000580 Genomic DNA No translation available. AP002812 Genomic DNA No translation available. BC002752 mRNA Translation: AAH02752.1 BC016854 mRNA Translation: AAH16854.1 |
CCDSi | CCDS8254.1 [Q9H7C9-1] CCDS86232.1 [Q9H7C9-1] |
RefSeqi | NP_001303886.1, NM_001316957.1 NP_001303889.1, NM_001316960.1 [Q9H7C9-1] NP_001303890.1, NM_001316961.1 [Q9H7C9-1] NP_001303891.1, NM_001316962.1 [Q9H7C9-1] NP_078960.1, NM_024684.3 [Q9H7C9-1] XP_011543271.1, XM_011544969.2 [Q9H7C9-1] |
Genome annotation databases
Ensembli | ENST00000393427.7; ENSP00000377078.2; ENSG00000087884.15 ENST00000526415.5; ENSP00000431808.1; ENSG00000087884.15 ENST00000532481.5; ENSP00000433293.1; ENSG00000087884.15 [Q9H7C9-3] |
GeneIDi | 28971 |
KEGGi | hsa:28971 |
MANE-Selecti | ENST00000393427.7; ENSP00000377078.2; NM_024684.4; NP_078960.1 |
UCSCi | uc001oyp.4, human [Q9H7C9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF092136 mRNA Translation: AAD40378.1 AK024688 mRNA Translation: BAB14963.1 CR457332 mRNA Translation: CAG33613.1 AP000580 Genomic DNA No translation available. AP002812 Genomic DNA No translation available. BC002752 mRNA Translation: AAH02752.1 BC016854 mRNA Translation: AAH16854.1 |
CCDSi | CCDS8254.1 [Q9H7C9-1] CCDS86232.1 [Q9H7C9-1] |
RefSeqi | NP_001303886.1, NM_001316957.1 NP_001303889.1, NM_001316960.1 [Q9H7C9-1] NP_001303890.1, NM_001316961.1 [Q9H7C9-1] NP_001303891.1, NM_001316962.1 [Q9H7C9-1] NP_078960.1, NM_024684.3 [Q9H7C9-1] XP_011543271.1, XM_011544969.2 [Q9H7C9-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2AB1 | X-ray | 2.59 | A/B | 2-122 | [»] | |
2Q4Q | X-ray | 2.59 | A/B | 2-122 | [»] | |
AlphaFoldDBi | Q9H7C9 | |||||
SMRi | Q9H7C9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 118795, 32 interactors |
IntActi | Q9H7C9, 13 interactors |
MINTi | Q9H7C9 |
STRINGi | 9606.ENSP00000431808 |
PTM databases
iPTMneti | Q9H7C9 |
PhosphoSitePlusi | Q9H7C9 |
Genetic variation databases
BioMutai | AAMDC |
DMDMi | 74733628 |
Proteomic databases
EPDi | Q9H7C9 |
jPOSTi | Q9H7C9 |
MassIVEi | Q9H7C9 |
MaxQBi | Q9H7C9 |
PaxDbi | Q9H7C9 |
PeptideAtlasi | Q9H7C9 |
PRIDEi | Q9H7C9 |
ProteomicsDBi | 81102 [Q9H7C9-1] 81103 [Q9H7C9-2] 81104 [Q9H7C9-3] |
Protocols and materials databases
Antibodypediai | 31275, 160 antibodies from 19 providers |
DNASUi | 28971 |
Genome annotation databases
Ensembli | ENST00000393427.7; ENSP00000377078.2; ENSG00000087884.15 ENST00000526415.5; ENSP00000431808.1; ENSG00000087884.15 ENST00000532481.5; ENSP00000433293.1; ENSG00000087884.15 [Q9H7C9-3] |
GeneIDi | 28971 |
KEGGi | hsa:28971 |
MANE-Selecti | ENST00000393427.7; ENSP00000377078.2; NM_024684.4; NP_078960.1 |
UCSCi | uc001oyp.4, human [Q9H7C9-1] |
Organism-specific databases
CTDi | 28971 |
DisGeNETi | 28971 |
GeneCardsi | AAMDC |
HGNCi | HGNC:30205, AAMDC |
HPAi | ENSG00000087884, Tissue enhanced (skeletal) |
neXtProti | NX_Q9H7C9 |
OpenTargetsi | ENSG00000087884 |
PharmGKBi | PA144596486 |
VEuPathDBi | HostDB:ENSG00000087884 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S00Z, Eukaryota |
GeneTreei | ENSGT00390000011958 |
HOGENOMi | CLU_074390_4_0_1 |
InParanoidi | Q9H7C9 |
OrthoDBi | 1403160at2759 |
PhylomeDBi | Q9H7C9 |
TreeFami | TF332083 |
Enzyme and pathway databases
PathwayCommonsi | Q9H7C9 |
SignaLinki | Q9H7C9 |
Miscellaneous databases
BioGRID-ORCSi | 28971, 16 hits in 1080 CRISPR screens |
ChiTaRSi | AAMDC, human |
EvolutionaryTracei | Q9H7C9 |
GenomeRNAii | 28971 |
Pharosi | Q9H7C9, Tdark |
PROi | PR:Q9H7C9 |
RNActi | Q9H7C9, protein |
Gene expression databases
Bgeei | ENSG00000087884, Expressed in vastus lateralis and 238 other tissues |
ExpressionAtlasi | Q9H7C9, baseline and differential |
Genevisiblei | Q9H7C9, HS |
Family and domain databases
CDDi | cd05126, Mth938, 1 hit |
Gene3Di | 3.40.1230.10, 1 hit |
InterProi | View protein in InterPro IPR034096, AAMDC IPR036748, MTH938-like_sf IPR007523, NDUFAF3/AAMDC |
Pfami | View protein in Pfam PF04430, DUF498, 1 hit |
SUPFAMi | SSF64076, SSF64076, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | AAMDC_HUMAN | |
Accessioni | Q9H7C9Primary (citable) accession number: Q9H7C9 Secondary accession number(s): Q96AQ4, Q9Y6B1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 13, 2006 |
Last sequence update: | March 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 144 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
3D-structure, Reference proteomeDocuments
- Uncharacterized protein families (UPF)
List of uncharacterized protein family (UPF) entries - Human chromosome 11
Human chromosome 11: 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families