NPS3B_HUMAN
ID NPS3B_HUMAN Reviewed; 247 AA.
AC Q9BS92; Q5VX30; Q9NUM2;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Protein NipSnap homolog 3B;
DE Short=NipSnap3B;
DE AltName: Full=SNAP1;
GN Name=NIPSNAP3B; Synonyms=NIPSNAP3;
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 [GENOMIC DNA].
RX PubMed=11352567; DOI=10.1006/geno.2000.6467;
RA Qiu Y., Cavelier L., Chiu S., Yang X., Rubin E., Cheng J.-F.;
RT "Human and mouse ABCA1 comparative sequencing and transgenesis studies
RT revealing novel regulatory sequences.";
RL Genomics 73:66-76(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PRO-94 AND GLY-159.
RC TISSUE=Placenta;
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 GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Heart, and Skeletal muscle;
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 -!- SIMILARITY: Belongs to the NipSnap family. {ECO:0000305}.
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DR EMBL; AF287262; AAK43527.1; -; Genomic_DNA.
DR EMBL; AK002137; BAA92101.1; -; mRNA.
DR EMBL; AL359846; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471105; EAW58991.1; -; Genomic_DNA.
DR EMBL; BC005202; AAH05202.1; -; mRNA.
DR EMBL; BC017914; AAH17914.1; -; mRNA.
DR CCDS; CCDS6761.1; -.
DR RefSeq; NP_060846.2; NM_018376.3.
DR AlphaFoldDB; Q9BS92; -.
DR SMR; Q9BS92; -.
DR BioGRID; 120616; 21.
DR STRING; 9606.ENSP00000363894; -.
DR iPTMnet; Q9BS92; -.
DR PhosphoSitePlus; Q9BS92; -.
DR BioMuta; NIPSNAP3B; -.
DR DMDM; 17380145; -.
DR jPOST; Q9BS92; -.
DR MassIVE; Q9BS92; -.
DR MaxQB; Q9BS92; -.
DR PaxDb; Q9BS92; -.
DR PeptideAtlas; Q9BS92; -.
DR PRIDE; Q9BS92; -.
DR ProteomicsDB; 78868; -.
DR Antibodypedia; 29254; 145 antibodies from 27 providers.
DR DNASU; 55335; -.
DR Ensembl; ENST00000374762.4; ENSP00000363894.3; ENSG00000165028.12.
DR GeneID; 55335; -.
DR KEGG; hsa:55335; -.
DR MANE-Select; ENST00000374762.4; ENSP00000363894.3; NM_018376.4; NP_060846.2.
DR UCSC; uc004bci.3; human.
DR CTD; 55335; -.
DR DisGeNET; 55335; -.
DR GeneCards; NIPSNAP3B; -.
DR HGNC; HGNC:23641; NIPSNAP3B.
DR HPA; ENSG00000165028; Tissue enhanced (skeletal muscle, tongue).
DR MIM; 608872; gene.
DR neXtProt; NX_Q9BS92; -.
DR OpenTargets; ENSG00000165028; -.
DR PharmGKB; PA134947095; -.
DR VEuPathDB; HostDB:ENSG00000165028; -.
DR eggNOG; KOG2883; Eukaryota.
DR GeneTree; ENSGT00950000183018; -.
DR HOGENOM; CLU_085919_0_1_1; -.
DR InParanoid; Q9BS92; -.
DR OMA; VHALWWY; -.
DR OrthoDB; 1141024at2759; -.
DR PhylomeDB; Q9BS92; -.
DR TreeFam; TF314501; -.
DR PathwayCommons; Q9BS92; -.
DR BioGRID-ORCS; 55335; 9 hits in 1074 CRISPR screens.
DR ChiTaRS; NIPSNAP3B; human.
DR GenomeRNAi; 55335; -.
DR Pharos; Q9BS92; Tbio.
DR PRO; PR:Q9BS92; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9BS92; protein.
DR Bgee; ENSG00000165028; Expressed in biceps brachii and 133 other tissues.
DR ExpressionAtlas; Q9BS92; baseline and differential.
DR Genevisible; Q9BS92; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR InterPro; IPR011008; Dimeric_a/b-barrel.
DR InterPro; IPR012577; NIPSNAP.
DR Pfam; PF07978; NIPSNAP; 2.
DR SUPFAM; SSF54909; SSF54909; 2.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..247
FT /note="Protein NipSnap homolog 3B"
FT /id="PRO_0000221154"
FT MOD_RES 45
FT /note="N6-succinyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9CQE1"
FT MOD_RES 57
FT /note="N6-succinyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9CQE1"
FT VARIANT 94
FT /note="A -> P (in dbSNP:rs10761084)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_050277"
FT VARIANT 154
FT /note="K -> E (in dbSNP:rs3739740)"
FT /id="VAR_050278"
FT VARIANT 159
FT /note="A -> G (in dbSNP:rs3739741)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_050279"
FT CONFLICT 190
FT /note="E -> G (in Ref. 2; BAA92101)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 247 AA; 28313 MW; 3D979E5AD99FC318 CRC64;
MLVLRSGLTK ALASRTLAPQ VCSSFATGPR QYDGTFYEFR TYYLKPSNMN AFMENLKKNI
HLRTSYSELV GFWSVEFGGR TNKVFHIWKY DNFAHRAEVR KALANCKEWQ EQSIIPNLAR
IDKQETEITY LIPWSKLEKP PKEGVYELAV FQMKPGGPAL WGDAFERAIN AHVNLGYTKV
VGVFHTEYGE LNRVHVLWWN ESADSRAAGR HKSHEDPRVV AAVRESVNYL VSQQNMLLIP
ASFSPLK
