AAMDC_HUMAN
ID AAMDC_HUMAN Reviewed; 122 AA.
AC Q9H7C9; Q96AQ4; Q9Y6B1;
DT 13-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Mth938 domain-containing protein;
DE AltName: Full=Adipogenesis associated Mth938 domain-containing protein;
GN Name=AAMDC; Synonyms=C11orf67; ORFNames=PTD015;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Pituitary tumor;
RA Mao M., Peng Y., Dai M., Song H., Mao Y., Zhang Q., Huang Q., Fu G.,
RA Luo M., Chen J., Hu R.;
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, and Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP X-RAY CRYSTALLOGRAPHY (2.59 ANGSTROMS).
RG Center for eukaryotic structural genomics (CESG);
RT "X-ray structure of gene product from Homo sapiens HS.95870.";
RL Submitted (JUL-2005) to the PDB data bank.
RN [8]
RP X-RAY CRYSTALLOGRAPHY (2.59 ANGSTROMS).
RX PubMed=17850744; DOI=10.1016/j.str.2007.06.019;
RA Levin E.J., Kondrashov D.A., Wesenberg G.E., Phillips G.N. Jr.;
RT "Ensemble refinement of protein crystal structures: validation and
RT application.";
RL Structure 15:1040-1052(2007).
CC -!- FUNCTION: May play a role in preadipocyte differentiation and
CC adipogenesis. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9H7C9; Q96HD9: ACY3; NbExp=3; IntAct=EBI-10308705, EBI-3916242;
CC Q9H7C9; P05067-2: APP; NbExp=3; IntAct=EBI-10308705, EBI-17264467;
CC Q9H7C9; P54252: ATXN3; NbExp=3; IntAct=EBI-10308705, EBI-946046;
CC Q9H7C9; P50570-2: DNM2; NbExp=3; IntAct=EBI-10308705, EBI-10968534;
CC Q9H7C9; Q8TB36: GDAP1; NbExp=3; IntAct=EBI-10308705, EBI-11110431;
CC Q9H7C9; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-10308705, EBI-739467;
CC Q9H7C9; P42858: HTT; NbExp=3; IntAct=EBI-10308705, EBI-466029;
CC Q9H7C9; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-10308705, EBI-9031083;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Diffuse
CC distribution with some highly concentrated spots around the nucleus.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9H7C9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H7C9-2; Sequence=VSP_019267, VSP_019269;
CC Name=3;
CC IsoId=Q9H7C9-3; Sequence=VSP_019266, VSP_019268;
CC -!- SIMILARITY: Belongs to the AAMDC family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF092136; AAD40378.1; -; mRNA.
DR EMBL; AK024688; BAB14963.1; -; mRNA.
DR EMBL; CR457332; CAG33613.1; -; mRNA.
DR EMBL; AP000580; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP002812; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC002752; AAH02752.1; -; mRNA.
DR EMBL; BC016854; AAH16854.1; -; mRNA.
DR CCDS; CCDS8254.1; -. [Q9H7C9-1]
DR CCDS; CCDS86232.1; -. [Q9H7C9-1]
DR RefSeq; NP_001303886.1; NM_001316957.1.
DR RefSeq; NP_001303889.1; NM_001316960.1. [Q9H7C9-1]
DR RefSeq; NP_001303890.1; NM_001316961.1. [Q9H7C9-1]
DR RefSeq; NP_001303891.1; NM_001316962.1. [Q9H7C9-1]
DR RefSeq; NP_078960.1; NM_024684.3. [Q9H7C9-1]
DR RefSeq; XP_011543271.1; XM_011544969.2. [Q9H7C9-1]
DR PDB; 2AB1; X-ray; 2.59 A; A/B=2-122.
DR PDB; 2Q4Q; X-ray; 2.59 A; A/B=2-122.
DR PDBsum; 2AB1; -.
DR PDBsum; 2Q4Q; -.
DR AlphaFoldDB; Q9H7C9; -.
DR SMR; Q9H7C9; -.
DR BioGRID; 118795; 32.
DR IntAct; Q9H7C9; 13.
DR MINT; Q9H7C9; -.
DR STRING; 9606.ENSP00000431808; -.
DR iPTMnet; Q9H7C9; -.
DR PhosphoSitePlus; Q9H7C9; -.
DR BioMuta; AAMDC; -.
DR DMDM; 74733628; -.
DR EPD; Q9H7C9; -.
DR jPOST; Q9H7C9; -.
DR MassIVE; Q9H7C9; -.
DR MaxQB; Q9H7C9; -.
DR PaxDb; Q9H7C9; -.
DR PeptideAtlas; Q9H7C9; -.
DR PRIDE; Q9H7C9; -.
DR ProteomicsDB; 81102; -. [Q9H7C9-1]
DR ProteomicsDB; 81103; -. [Q9H7C9-2]
DR ProteomicsDB; 81104; -. [Q9H7C9-3]
DR Antibodypedia; 31275; 172 antibodies from 19 providers.
DR DNASU; 28971; -.
DR Ensembl; ENST00000393427.7; ENSP00000377078.2; ENSG00000087884.15. [Q9H7C9-1]
DR Ensembl; ENST00000526415.5; ENSP00000431808.1; ENSG00000087884.15. [Q9H7C9-1]
DR Ensembl; ENST00000532481.5; ENSP00000433293.1; ENSG00000087884.15. [Q9H7C9-3]
DR GeneID; 28971; -.
DR KEGG; hsa:28971; -.
DR MANE-Select; ENST00000393427.7; ENSP00000377078.2; NM_024684.4; NP_078960.1.
DR UCSC; uc001oyp.4; human. [Q9H7C9-1]
DR CTD; 28971; -.
DR DisGeNET; 28971; -.
DR GeneCards; AAMDC; -.
DR HGNC; HGNC:30205; AAMDC.
DR HPA; ENSG00000087884; Tissue enhanced (skeletal).
DR neXtProt; NX_Q9H7C9; -.
DR OpenTargets; ENSG00000087884; -.
DR PharmGKB; PA144596486; -.
DR VEuPathDB; HostDB:ENSG00000087884; -.
DR eggNOG; ENOG502S00Z; Eukaryota.
DR GeneTree; ENSGT00390000011958; -.
DR HOGENOM; CLU_074390_4_0_1; -.
DR InParanoid; Q9H7C9; -.
DR OrthoDB; 1403160at2759; -.
DR PhylomeDB; Q9H7C9; -.
DR TreeFam; TF332083; -.
DR PathwayCommons; Q9H7C9; -.
DR SignaLink; Q9H7C9; -.
DR BioGRID-ORCS; 28971; 16 hits in 1080 CRISPR screens.
DR ChiTaRS; AAMDC; human.
DR EvolutionaryTrace; Q9H7C9; -.
DR GenomeRNAi; 28971; -.
DR Pharos; Q9H7C9; Tdark.
DR PRO; PR:Q9H7C9; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9H7C9; protein.
DR Bgee; ENSG00000087884; Expressed in tendon of biceps brachii and 201 other tissues.
DR ExpressionAtlas; Q9H7C9; baseline and differential.
DR Genevisible; Q9H7C9; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0045600; P:positive regulation of fat cell differentiation; IBA:GO_Central.
DR CDD; cd05126; Mth938; 1.
DR Gene3D; 3.40.1230.10; -; 1.
DR InterPro; IPR034096; AAMDC.
DR InterPro; IPR036748; MTH938-like_sf.
DR InterPro; IPR007523; NDUFAF3/AAMDC.
DR Pfam; PF04430; DUF498; 1.
DR SUPFAM; SSF64076; SSF64076; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cytoplasm; Reference proteome.
FT CHAIN 1..122
FT /note="Mth938 domain-containing protein"
FT /id="PRO_0000239814"
FT REGION 6..122
FT /note="MTH138-like domain"
FT /evidence="ECO:0000250"
FT VAR_SEQ 77..118
FT /note="VPSSTVEYLKKHGIDVRVLQTEQAVKEYNALVAQGVRVGGVF -> APTQQL
FT PSGVHVRAGVQFHLLQLHGTSFERCKTGAGLTSNML (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_019267"
FT VAR_SEQ 77..88
FT /note="VPSSTVEYLKKH -> DGIQGAQLDLNC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019266"
FT VAR_SEQ 89..122
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019268"
FT VAR_SEQ 119..122
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_019269"
FT VARIANT 92
FT /note="V -> M (in dbSNP:rs2186564)"
FT /id="VAR_052696"
FT STRAND 6..10
FT /evidence="ECO:0007829|PDB:2AB1"
FT STRAND 13..16
FT /evidence="ECO:0007829|PDB:2AB1"
FT STRAND 22..29
FT /evidence="ECO:0007829|PDB:2AB1"
FT STRAND 32..36
FT /evidence="ECO:0007829|PDB:2AB1"
FT HELIX 38..41
FT /evidence="ECO:0007829|PDB:2AB1"
FT STRAND 45..47
FT /evidence="ECO:0007829|PDB:2AB1"
FT HELIX 51..58
FT /evidence="ECO:0007829|PDB:2AB1"
FT STRAND 63..69
FT /evidence="ECO:0007829|PDB:2AB1"
FT HELIX 79..87
FT /evidence="ECO:0007829|PDB:2AB1"
FT STRAND 91..95
FT /evidence="ECO:0007829|PDB:2AB1"
FT HELIX 97..109
FT /evidence="ECO:0007829|PDB:2AB1"
FT STRAND 114..119
FT /evidence="ECO:0007829|PDB:2AB1"
SQ SEQUENCE 122 AA; 13332 MW; A0C88AD311E62C78 CRC64;
MTSPEIASLS WGQMKVKGSN TTYKDCKVWP GGSRTWDWRE TGTEHSPGVQ PADVKEVVEK
GVQTLVIGRG MSEALKVPSS TVEYLKKHGI DVRVLQTEQA VKEYNALVAQ GVRVGGVFHS
TC
