SAM13_HUMAN
ID SAM13_HUMAN Reviewed; 122 AA.
AC Q5VXD3; B3KPW8; D3DT11; Q53AI4; Q5VXD2; Q5VXD4;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Sterile alpha motif domain-containing protein 13;
DE Short=SAM domain-containing protein 13;
GN Name=SAMD13; ORFNames=HSD-42, HSD42;
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 3).
RC TISSUE=Testis;
RA Yang C.B., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Salivary gland;
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 4).
RC TISSUE=Testis;
RA Arakawa T., Carninci P., Fukuda S., Hasegawa A., Hayashida K., Hori F.,
RA Kai C., Kawai J., Kojima M., Murata M., Nakamura M., Nishiyori H.,
RA Nomura K., Ohno M., Sasaki D., Shibazaki E., Tagami M., Tagami Y.,
RA Hayashizaki Y.;
RL Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q5VXD3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VXD3-2; Sequence=VSP_023463;
CC Name=3;
CC IsoId=Q5VXD3-3; Sequence=VSP_023464;
CC Name=4;
CC IsoId=Q5VXD3-4; Sequence=VSP_044972;
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DR EMBL; AY604570; AAU14234.1; -; mRNA.
DR EMBL; AK056937; BAG51830.1; -; mRNA.
DR EMBL; DB459148; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL359273; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471097; EAW73240.1; -; Genomic_DNA.
DR EMBL; CH471097; EAW73241.1; -; Genomic_DNA.
DR EMBL; CH471097; EAW73242.1; -; Genomic_DNA.
DR CCDS; CCDS30760.1; -. [Q5VXD3-2]
DR CCDS; CCDS44166.1; -. [Q5VXD3-4]
DR RefSeq; NP_001010971.1; NM_001010971.2. [Q5VXD3-2]
DR RefSeq; NP_001128135.1; NM_001134663.1. [Q5VXD3-4]
DR RefSeq; NP_001128136.1; NM_001134664.1. [Q5VXD3-4]
DR RefSeq; XP_016855866.1; XM_017000377.1. [Q5VXD3-1]
DR AlphaFoldDB; Q5VXD3; -.
DR SMR; Q5VXD3; -.
DR BioGRID; 127148; 5.
DR IntAct; Q5VXD3; 1.
DR MINT; Q5VXD3; -.
DR STRING; 9606.ENSP00000359707; -.
DR iPTMnet; Q5VXD3; -.
DR PhosphoSitePlus; Q5VXD3; -.
DR BioMuta; SAMD13; -.
DR DMDM; 74747524; -.
DR jPOST; Q5VXD3; -.
DR MassIVE; Q5VXD3; -.
DR PaxDb; Q5VXD3; -.
DR PeptideAtlas; Q5VXD3; -.
DR PRIDE; Q5VXD3; -.
DR ProteomicsDB; 12759; -.
DR ProteomicsDB; 65587; -. [Q5VXD3-1]
DR ProteomicsDB; 65588; -. [Q5VXD3-2]
DR ProteomicsDB; 65589; -. [Q5VXD3-3]
DR Antibodypedia; 71629; 16 antibodies from 10 providers.
DR DNASU; 148418; -.
DR Ensembl; ENST00000370668.7; ENSP00000359702.3; ENSG00000203943.9. [Q5VXD3-4]
DR Ensembl; ENST00000370669.5; ENSP00000359703.1; ENSG00000203943.9. [Q5VXD3-4]
DR Ensembl; ENST00000370670.2; ENSP00000359704.2; ENSG00000203943.9. [Q5VXD3-4]
DR Ensembl; ENST00000370671.7; ENSP00000359705.3; ENSG00000203943.9. [Q5VXD3-1]
DR Ensembl; ENST00000370673.7; ENSP00000359707.3; ENSG00000203943.9. [Q5VXD3-2]
DR Ensembl; ENST00000394834.8; ENSP00000378311.3; ENSG00000203943.9. [Q5VXD3-4]
DR GeneID; 148418; -.
DR KEGG; hsa:148418; -.
DR MANE-Select; ENST00000394834.8; ENSP00000378311.3; NM_001134663.2; NP_001128135.1. [Q5VXD3-4]
DR UCSC; uc001djr.3; human. [Q5VXD3-1]
DR CTD; 148418; -.
DR DisGeNET; 148418; -.
DR GeneCards; SAMD13; -.
DR HGNC; HGNC:24582; SAMD13.
DR HPA; ENSG00000203943; Tissue enhanced (brain, choroid plexus, intestine).
DR neXtProt; NX_Q5VXD3; -.
DR OpenTargets; ENSG00000203943; -.
DR PharmGKB; PA142670952; -.
DR VEuPathDB; HostDB:ENSG00000203943; -.
DR eggNOG; ENOG502RZ5A; Eukaryota.
DR GeneTree; ENSGT00530000063936; -.
DR HOGENOM; CLU_179421_0_0_1; -.
DR InParanoid; Q5VXD3; -.
DR OrthoDB; 619766at2759; -.
DR PhylomeDB; Q5VXD3; -.
DR PathwayCommons; Q5VXD3; -.
DR SignaLink; Q5VXD3; -.
DR BioGRID-ORCS; 148418; 11 hits in 1065 CRISPR screens.
DR ChiTaRS; SAMD13; human.
DR GenomeRNAi; 148418; -.
DR Pharos; Q5VXD3; Tdark.
DR PRO; PR:Q5VXD3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VXD3; protein.
DR Bgee; ENSG00000203943; Expressed in rectum and 95 other tissues.
DR ExpressionAtlas; Q5VXD3; baseline and differential.
DR Genevisible; Q5VXD3; HS.
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: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 SUPFAM; SSF47769; SSF47769; 1.
DR PROSITE; PS50105; SAM_DOMAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..122
FT /note="Sterile alpha motif domain-containing protein 13"
FT /id="PRO_0000279505"
FT DOMAIN 51..119
FT /note="SAM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT VAR_SEQ 1..74
FT /note="MANSLLEGVFAEVKEPCSLPMLSVDMENKENGSVGVKNSMENGRPPDPADWA
FT VMDVVNYFRTVGFEEQASAFQE -> MRSCLMPGNEMSMTSPEGTEPKGKQRRWQRQKT
FT FGGGTMHSQDS (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_023464"
FT VAR_SEQ 1..20
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_044972"
FT VAR_SEQ 1..10
FT /note="MANSLLEGVF -> MRGV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023463"
SQ SEQUENCE 122 AA; 13570 MW; CF36A3DC07CE1644 CRC64;
MANSLLEGVF AEVKEPCSLP MLSVDMENKE NGSVGVKNSM ENGRPPDPAD WAVMDVVNYF
RTVGFEEQAS AFQEQEIDGK SLLLMTRNDV LTGLQLKLGP ALKIYEYHVK PLQTKHLKNN
SS
