SAMD7_HUMAN
ID SAMD7_HUMAN Reviewed; 446 AA.
AC Q7Z3H4;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Sterile alpha motif domain-containing protein 7;
DE Short=SAM domain-containing protein 7;
GN Name=SAMD7;
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].
RC TISSUE=Retina;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP TISSUE SPECIFICITY.
RX PubMed=26887858; DOI=10.1038/srep21307;
RA Van Schil K., Karlstetter M., Aslanidis A., Dannhausen K., Azam M.,
RA Qamar R., Leroy B.P., Depasse F., Langmann T., De Baere E.;
RT "Autosomal recessive retinitis pigmentosa with homozygous rhodopsin
RT mutation E150K and non-coding cis-regulatory variants in CRX-binding
RT regions of SAMD7.";
RL Sci. Rep. 6:21307-21307(2016).
CC -!- FUNCTION: Involved in the regulation of gene expression in the retina.
CC It functions as a negative regulator of CRX-controlled genes.
CC {ECO:0000250|UniProtKB:Q8C8Y5}.
CC -!- INTERACTION:
CC Q7Z3H4; A1KXE4-2: FAM168B; NbExp=3; IntAct=EBI-12148649, EBI-12193763;
CC Q7Z3H4; O60333-2: KIF1B; NbExp=3; IntAct=EBI-12148649, EBI-10975473;
CC Q7Z3H4; Q9BYR8: KRTAP3-1; NbExp=3; IntAct=EBI-12148649, EBI-9996449;
CC Q7Z3H4; Q3LI66: KRTAP6-2; NbExp=5; IntAct=EBI-12148649, EBI-11962084;
CC Q7Z3H4; O43482: OIP5; NbExp=3; IntAct=EBI-12148649, EBI-536879;
CC Q7Z3H4; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-12148649, EBI-396669;
CC Q7Z3H4; Q86WV8: TSC1; NbExp=3; IntAct=EBI-12148649, EBI-12806590;
CC Q7Z3H4; O76024: WFS1; NbExp=3; IntAct=EBI-12148649, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8C8Y5}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q8C8Y5}.
CC -!- TISSUE SPECIFICITY: Expressed in the retina (at protein level).
CC {ECO:0000269|PubMed:26887858}.
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; BX537903; CAD97889.1; -; mRNA.
DR EMBL; BC117339; AAI17340.1; -; mRNA.
DR CCDS; CCDS3209.1; -.
DR RefSeq; NP_001291295.1; NM_001304366.1.
DR RefSeq; NP_872416.1; NM_182610.3.
DR AlphaFoldDB; Q7Z3H4; -.
DR SMR; Q7Z3H4; -.
DR BioGRID; 131314; 14.
DR IntAct; Q7Z3H4; 12.
DR STRING; 9606.ENSP00000391299; -.
DR iPTMnet; Q7Z3H4; -.
DR PhosphoSitePlus; Q7Z3H4; -.
DR BioMuta; SAMD7; -.
DR DMDM; 74713382; -.
DR MassIVE; Q7Z3H4; -.
DR PaxDb; Q7Z3H4; -.
DR PeptideAtlas; Q7Z3H4; -.
DR PRIDE; Q7Z3H4; -.
DR ProteomicsDB; 69051; -.
DR Antibodypedia; 51043; 149 antibodies from 14 providers.
DR DNASU; 344658; -.
DR Ensembl; ENST00000335556.7; ENSP00000334668.3; ENSG00000187033.9.
DR Ensembl; ENST00000428432.6; ENSP00000391299.2; ENSG00000187033.9.
DR GeneID; 344658; -.
DR KEGG; hsa:344658; -.
DR MANE-Select; ENST00000335556.7; ENSP00000334668.3; NM_001304366.2; NP_001291295.1.
DR UCSC; uc003fgd.4; human.
DR CTD; 344658; -.
DR DisGeNET; 344658; -.
DR GeneCards; SAMD7; -.
DR HGNC; HGNC:25394; SAMD7.
DR HPA; ENSG00000187033; Tissue enriched (retina).
DR neXtProt; NX_Q7Z3H4; -.
DR OpenTargets; ENSG00000187033; -.
DR PharmGKB; PA134861212; -.
DR VEuPathDB; HostDB:ENSG00000187033; -.
DR eggNOG; KOG3829; Eukaryota.
DR GeneTree; ENSGT00940000160075; -.
DR HOGENOM; CLU_046957_0_0_1; -.
DR InParanoid; Q7Z3H4; -.
DR OMA; DEFAKEP; -.
DR OrthoDB; 622508at2759; -.
DR PhylomeDB; Q7Z3H4; -.
DR TreeFam; TF331299; -.
DR PathwayCommons; Q7Z3H4; -.
DR SignaLink; Q7Z3H4; -.
DR BioGRID-ORCS; 344658; 11 hits in 1060 CRISPR screens.
DR GenomeRNAi; 344658; -.
DR Pharos; Q7Z3H4; Tdark.
DR PRO; PR:Q7Z3H4; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q7Z3H4; protein.
DR Bgee; ENSG00000187033; Expressed in lymph node and 2 other tissues.
DR ExpressionAtlas; Q7Z3H4; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0042393; F:histone binding; IBA:GO_Central.
DR GO; GO:0010629; P:negative regulation of gene expression; IEA:Ensembl.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IBA:GO_Central.
DR Gene3D; 1.10.150.50; -; 1.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR Pfam; PF00536; SAM_1; 1.
DR SMART; SM00454; SAM; 1.
DR SUPFAM; SSF47769; SSF47769; 1.
DR PROSITE; PS50105; SAM_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..446
FT /note="Sterile alpha motif domain-containing protein 7"
FT /id="PRO_0000263102"
FT DOMAIN 327..392
FT /note="SAM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT REGION 187..207
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 225..277
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 231..252
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 220
FT /note="E -> D (in dbSNP:rs10513680)"
FT /id="VAR_029586"
SQ SEQUENCE 446 AA; 49112 MW; 798E09885F1A0C17 CRC64;
MAVNPLLTPT GQQTIPLIPS PFGPPTVDRD VLPSTVAPTD PRQFCVPSQF GSSVLPNTNM
ANVLSSRIYP GWGILPPESI KAVARRNEMI QRHHTARTEM EMYAIYQQRR MEKINPKGLA
GLGIPFLYGS SVPAAPAAYH GRSMLPAGDL HFHRSTLRNL QGNPMLAATA PHFEESWGQR
CRRLRKNTGN QKALDSDAES SKSQAEEKIL GQTHAVPYEE DHYAKDPDIE APSNQKSSET
NEKPTTALAN TCGELEPTHR KPWGSHTTTL KAKAWDDGKE EASEQIFATC DEKNGVCPPV
PRPSLPGTHA LVTIGGNLSL DEDIQKWTVD DVHSFIRSLP GCSDYAQVFK DHAIDGETLP
LLTEEHLRGT MGLKLGPALK IQSQVSQHVG SMFYKKTLSF PIRQAFDQPA DTSPLLDPNS
WSDTMNIFCP QDTIIPKGIE RGSMRN
