SMTL2_HUMAN
ID SMTL2_HUMAN Reviewed; 461 AA.
AC Q2TAL5; Q6ZVK6;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JAN-2006, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Smoothelin-like protein 2;
GN Name=SMTNL2;
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), AND VARIANT THR-162.
RC TISSUE=Cerebellum;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP THR-162.
RC TISSUE=Brain, and Colon;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2TAL5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2TAL5-2; Sequence=VSP_030931;
CC -!- SIMILARITY: Belongs to the smoothelin family. {ECO:0000305}.
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DR EMBL; AK124452; BAC85855.1; -; mRNA.
DR EMBL; BC110859; AAI10860.1; -; mRNA.
DR EMBL; BC105050; AAI05051.1; -; mRNA.
DR EMBL; BC112177; AAI12178.1; -; mRNA.
DR CCDS; CCDS11048.1; -. [Q2TAL5-2]
DR CCDS; CCDS45583.1; -. [Q2TAL5-1]
DR RefSeq; NP_001108446.1; NM_001114974.1. [Q2TAL5-1]
DR RefSeq; NP_940903.2; NM_198501.2. [Q2TAL5-2]
DR RefSeq; XP_006721578.1; XM_006721515.2. [Q2TAL5-2]
DR AlphaFoldDB; Q2TAL5; -.
DR SMR; Q2TAL5; -.
DR BioGRID; 131181; 38.
DR ELM; Q2TAL5; -.
DR IntAct; Q2TAL5; 20.
DR MINT; Q2TAL5; -.
DR STRING; 9606.ENSP00000373964; -.
DR GlyGen; Q2TAL5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q2TAL5; -.
DR PhosphoSitePlus; Q2TAL5; -.
DR BioMuta; SMTNL2; -.
DR DMDM; 121941770; -.
DR jPOST; Q2TAL5; -.
DR MassIVE; Q2TAL5; -.
DR MaxQB; Q2TAL5; -.
DR PaxDb; Q2TAL5; -.
DR PeptideAtlas; Q2TAL5; -.
DR PRIDE; Q2TAL5; -.
DR ProteomicsDB; 61465; -. [Q2TAL5-1]
DR ProteomicsDB; 61466; -. [Q2TAL5-2]
DR Antibodypedia; 11245; 75 antibodies from 21 providers.
DR DNASU; 342527; -.
DR Ensembl; ENST00000338859.8; ENSP00000345143.4; ENSG00000188176.12. [Q2TAL5-2]
DR Ensembl; ENST00000389313.9; ENSP00000373964.4; ENSG00000188176.12. [Q2TAL5-1]
DR GeneID; 342527; -.
DR KEGG; hsa:342527; -.
DR MANE-Select; ENST00000389313.9; ENSP00000373964.4; NM_001114974.2; NP_001108446.1.
DR UCSC; uc002fye.3; human. [Q2TAL5-1]
DR CTD; 342527; -.
DR DisGeNET; 342527; -.
DR GeneCards; SMTNL2; -.
DR HGNC; HGNC:24764; SMTNL2.
DR HPA; ENSG00000188176; Group enriched (skeletal muscle, tongue).
DR neXtProt; NX_Q2TAL5; -.
DR OpenTargets; ENSG00000188176; -.
DR PharmGKB; PA145007828; -.
DR VEuPathDB; HostDB:ENSG00000188176; -.
DR eggNOG; KOG4678; Eukaryota.
DR GeneTree; ENSGT00940000154495; -.
DR HOGENOM; CLU_040651_5_0_1; -.
DR InParanoid; Q2TAL5; -.
DR OMA; APHQGER; -.
DR OrthoDB; 168604at2759; -.
DR PhylomeDB; Q2TAL5; -.
DR TreeFam; TF316716; -.
DR PathwayCommons; Q2TAL5; -.
DR SignaLink; Q2TAL5; -.
DR BioGRID-ORCS; 342527; 8 hits in 1061 CRISPR screens.
DR ChiTaRS; SMTNL2; human.
DR GenomeRNAi; 342527; -.
DR Pharos; Q2TAL5; Tdark.
DR PRO; PR:Q2TAL5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q2TAL5; protein.
DR Bgee; ENSG00000188176; Expressed in gastrocnemius and 123 other tissues.
DR ExpressionAtlas; Q2TAL5; baseline and differential.
DR Genevisible; Q2TAL5; HS.
DR GO; GO:0031941; C:filamentous actin; IBA:GO_Central.
DR GO; GO:0031674; C:I band; IBA:GO_Central.
DR GO; GO:0031430; C:M band; IBA:GO_Central.
DR GO; GO:0005815; C:microtubule organizing center; IBA:GO_Central.
DR GO; GO:0008157; F:protein phosphatase 1 binding; IBA:GO_Central.
DR GO; GO:0005523; F:tropomyosin binding; IBA:GO_Central.
DR GO; GO:0030036; P:actin cytoskeleton organization; IBA:GO_Central.
DR GO; GO:0045907; P:positive regulation of vasoconstriction; IBA:GO_Central.
DR CDD; cd00014; CH; 1.
DR Gene3D; 1.10.418.10; -; 1.
DR InterPro; IPR001715; CH-domain.
DR InterPro; IPR036872; CH_dom_sf.
DR Pfam; PF00307; CH; 1.
DR SMART; SM00033; CH; 1.
DR SUPFAM; SSF47576; SSF47576; 1.
DR PROSITE; PS50021; CH; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome.
FT CHAIN 1..461
FT /note="Smoothelin-like protein 2"
FT /id="PRO_0000317278"
FT DOMAIN 351..458
FT /note="Calponin-homology (CH)"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00044"
FT REGION 87..193
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 227..248
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 260..307
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 55..88
FT /evidence="ECO:0000255"
FT COMPBIAS 95..110
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 96
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 101
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 129
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 134
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 256
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 269
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 274
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 278
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT MOD_RES 344
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8CI12"
FT VAR_SEQ 1..144
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_030931"
FT VARIANT 162
FT /note="A -> T (in dbSNP:rs12449695)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_038498"
FT VARIANT 251
FT /note="W -> R (in dbSNP:rs9916524)"
FT /id="VAR_060164"
SQ SEQUENCE 461 AA; 50196 MW; A12786420E5796CE CRC64;
MEPAPDAQEA RTVREALGRY EAALEGAVRA LHEDMRGLQR GVERRVAEAM RLAGPLARTV
ADLQRDNQRL QAQLERLTRQ VEALGLASGM SPVPGTPGTP SPPPAPGVPD RAPRLGSARF
ASHATFSLSG RGQSLDHDEA SESEMRKTSN SCIMENGHQP GAGPGDGPPE IAQNFSAPDP
PRPRPVSLSL RLPHQPVTAI TRVSDRFSGE TSAAALSPMS AATLGGLNPS PSEVITPWTP
SPSEKNSSFT WSVPSSGYGA VTASKHSNSP PLVTPPQSPV SPQPPAITQV HRQGERRREL
VRSQTLPRTS EAQARKALFE KWEQETAAGK GKGEARARLK RSQSFGVASA SSIKQILLEW
CRSKTLGYQH VDLQNFSSSW SDGMAFCALV HSFFPDAFDY NSLSPTQRQK NFELAFTMAE
NLANCERLIE VEDMMVMGRK PDPMCVFTYV QSLYNHLRRF E
